Gene | Chr | Position | RefSeq | VarSeq | RefSeeq | VarType | Pathogenic | Disease | VarInfo |
PRKDC | chr8 | 48686746 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48686778 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48686820 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48686829 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48686838 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48686905 | A | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48686942 | GA | G | Deletion | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48687031 | C | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48689366 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48689431 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48689445 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48689449 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48689454 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48689465 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48689473 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48689481 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48689538 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48689560 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48689773 | A | AT | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48689773 | AT | A | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48690066 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48690186 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48690240 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48690244 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48690263 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690271 | G | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48690291 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690299 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690311 | G | A | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690322 | C | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48690335 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690345 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690349 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690354 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690358 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48690359 | G | A | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690369 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690378 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690395 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48690424 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48690558 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48691014 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48691028 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691029 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691038 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691059 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691064 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691067 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691068 | G | A | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691079 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691107 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691113 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691119 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691160 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691175 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691177 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691188 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691206 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691220 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691280 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48691290 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691305 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691325 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691334 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691350 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691357 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691583 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691595 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691632 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691636 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691637 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48691639 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48691655 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001574|splice_acceptor_variant | SO:0001574|splice_acceptor_variant |
PRKDC | chr8 | 48691906 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48694521 | A | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48694746 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
PRKDC | chr8 | 48694956 | A | G | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48694969 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48694998 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48695013 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48695046 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48695047 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48695059 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48695089 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48695094 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48695098 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48695103 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48695113 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48695181 | C | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48695210 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48695211 | T | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48695447 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48696318 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48696319 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48696356 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48696357 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48696360 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48696598 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48697424 | C | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48697675 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48697675 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48697705 | C | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48697733 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48697752 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48697802 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48697855 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48697877 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48701329 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48701502 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48701505 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48701537 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48701583 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48701591 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48701595 | C | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48701596 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48701618 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48701621 | A | G | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48701720 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48701749 | G | A | single_nucleotide_variant | Pathogenic | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48701770 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48701786 | A | T | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48706854 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48706884 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48706895 | G | A | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48706943 | C | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48706943 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48706953 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48706988 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48706997 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48707019 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48707035 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48707053 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48707335 | T | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48710684 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48710814 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48710835 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48710880 | T | C | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48710894 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48710909 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48710933 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48710934 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48710955 | A | G | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48710970 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48711467 | T | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48711682 | C | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48711758 | A | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48711775 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48711777 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48711793 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48711794 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48711795 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48711804 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48711824 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48711857 | C | T | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48711862 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48711872 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48711881 | GCCT | G | Microsatellite | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001822|inframe_deletion | SO:0001822|inframe_deletion |
PRKDC | chr8 | 48711896 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48711904 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48711926 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713359 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713404 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713416 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713428 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713433 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713456 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48713457 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713485 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713488 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713504 | A | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48713527 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713532 | GAC | G | Microsatellite | Uncertain_significance | not_provided | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
PRKDC | chr8 | 48713537 | G | A | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48713538 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48713540 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48713557 | T | TA | Duplication | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48715854 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48715864 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48715919 | G | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48715924 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48715944 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48715944 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48715952 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48715978 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48715979 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48715985 | G | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48716001 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48716005 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48716006 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48716028 | A | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48716037 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48719705 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48719721 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48719721 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48719744 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48719752 | G | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48719844 | G | A | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48719852 | G | C | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48719887 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48719895 | A | G | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48729746 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48729811 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48729960 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48730003 | C | T | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48730007 | T | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48730014 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48730054 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48730058 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48730064 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48730081 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48730106 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48730122 | C | T | single_nucleotide_variant | Benign/Likely_benign | Malignant_tumor_of_breast|Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48730131 | A | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48730400 | C | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48731966 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48732009 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48732023 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48732033 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48732074 | T | TA | Duplication | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48732074 | T | TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | Insertion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48732074 | TA | T | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48732074 | TAA | T | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48732074 | TAAA | T | Deletion | Benign/Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48732075 | A | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48733276 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48733324 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48733389 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48733390 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48733399 | G | A | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48733405 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48733431 | A | C | single_nucleotide_variant | Pathogenic | Immunodeficiency_26_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48733446 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48733452 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48733471 | G | A | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48733479 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48734172 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48734205 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48734246 | T | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48734258 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48734290 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48734324 | A | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48734360 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48734371 | A | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48736459 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48736484 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48736522 | C | T | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48736554 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48736557 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48736565 | A | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48739233 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739256 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739257 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739268 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739305 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739308 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739315 | C | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48739318 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48739321 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48739338 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739338 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739338 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739339 | G | A | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48739348 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48739387 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48739401 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739421 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48739440 | C | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48740550 | TG | T | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48740753 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48740812 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48740837 | A | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48740848 | T | C | single_nucleotide_variant | Uncertain_significance | Microcephaly | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48740849 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48740886 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48740899 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48740922 | A | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48741171 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48743175 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48743180 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48743185 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48743206 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48743236 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48743237 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48743238 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48743246 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48743271 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48743289 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48743295 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48743307 | C | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48743307 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48744370 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48744382 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48744411 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48744462 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48744467 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48744470 | C | CTG | Insertion | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
PRKDC | chr8 | 48744473 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48744477 | G | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48744484 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48744487 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48746761 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48746779 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48746805 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48746845 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48746848 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48746860 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48746866 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48746878 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48746905 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48746912 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48746949 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48746955 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48746967 | G | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48747246 | A | ACTT | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48748881 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48748915 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48748925 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48748958 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48748960 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48748967 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48748968 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48748976 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48748991 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48748994 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48748995 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749008 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48749017 | G | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48749039 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749042 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749057 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749064 | G | A | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749068 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48749763 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48749764 | C | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48749784 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749803 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48749810 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749840 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749848 | C | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48749856 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749878 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48749882 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749885 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749887 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48749899 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749901 | A | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749934 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48749953 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48751788 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48751797 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48751803 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48751813 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48752082 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48752567 | T | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48752592 | A | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48752600 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48752617 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48752626 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48752647 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48752648 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48752656 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48752659 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48752660 | G | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48752676 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48752700 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48761742 | T | C | single_nucleotide_variant | Uncertain_significance | Microcephaly | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48761750 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48761765 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48761791 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48761797 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48761837 | C | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48761869 | C | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48761869 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48761872 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48761924 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48761956 | G | A | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48761962 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48761978 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48761990 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48762007 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48762009 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48762034 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48762060 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48765089 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48765287 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48765288 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48765303 | A | G | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48765322 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48765338 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48765348 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48766674 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48766679 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48766685 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48766700 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48766727 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48766735 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48766753 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48766765 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001587|nonsense | SO:0001587|nonsense |
PRKDC | chr8 | 48766783 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48767518 | C | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48767560 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48767773 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48767785 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48767838 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48767859 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48767909 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48767923 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48769719 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48769749 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48769773 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48769811 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48769843 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48769846 | G | A | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48769853 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48769869 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48770975 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48771028 | C | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48771083 | T | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48771084 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771101 | G | C | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48771127 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771128 | T | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48771131 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771145 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771172 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771180 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771194 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48771243 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48771291 | C | CA | Duplication | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48771301 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48771400 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48771413 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48771414 | TCTC | T | Deletion | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001822|inframe_deletion | SO:0001822|inframe_deletion |
PRKDC | chr8 | 48771425 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48771426 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771428 | G | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48771430 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771435 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771441 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771452 | G | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48771464 | C | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48771471 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771475 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771487 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771525 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771527 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48771540 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48771550 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48771551 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48771552 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48771674 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48772173 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48772178 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48772190 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48772238 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48772244 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48772307 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48772312 | A | G | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48772402 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48772414 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48773432 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48774629 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48774631 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48774641 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48774645 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48774648 | C | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48774649 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48774651 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48774652 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48774698 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48774918 | C | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48774985 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48775008 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48775012 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48775016 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48775035 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48775040 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48775092 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48775093 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48775094 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48775099 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48775106 | CAG | C | Microsatellite | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48775111 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48775205 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48775953 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48775954 | TCTTA | T | Microsatellite | Uncertain_significance | not_specified | SO:0001575|splice_donor_variant | SO:0001575|splice_donor_variant |
PRKDC | chr8 | 48775999 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48776001 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48776007 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48776016 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48776065 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48776076 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48776085 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48776121 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48776134 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48776142 | C | T | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48776189 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48777112 | G | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48777129 | G | A | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48777138 | C | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48777151 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48777155 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48777161 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48777191 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48777221 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48777222 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48777223 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48777225 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48777260 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48790280 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48790283 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001575|splice_donor_variant | SO:0001575|splice_donor_variant |
PRKDC | chr8 | 48790292 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48790327 | A | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48790329 | G | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48790332 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48790379 | T | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48790395 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48790664 | G | GT | Duplication | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48791842 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48792042 | A | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48792046 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48792077 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48792085 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48792125 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48792167 | A | T | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48792180 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48792199 | A | C | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48792206 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48792208 | G | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48793644 | CAAGA | C | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48793970 | T | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48793983 | A | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794014 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794018 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794033 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794048 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794065 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794090 | A | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48794171 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48794465 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48794499 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48794518 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48794528 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794552 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794568 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794574 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794579 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794579 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794606 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794626 | C | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794649 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48794663 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48794906 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48798361 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48798507 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798508 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48798519 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798539 | T | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798543 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48798575 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798578 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798581 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798599 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798617 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798630 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798634 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48798651 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798655 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48798662 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798662 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798687 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798701 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48798718 | AG | GT | Indel | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48800114 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48800194 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48800211 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48800245 | C | G | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48800250 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48800565 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48800981 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48801040 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48801072 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48801085 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801095 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801098 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801100 | C | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801106 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801117 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801121 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801121 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801138 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801142 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801150 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801170 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801171 | C | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801172 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801178 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801182 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801184 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801192 | C | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801208 | A | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801210 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801554 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48801562 | C | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48801584 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801621 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801629 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801676 | A | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801677 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801691 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801696 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801701 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801717 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801718 | G | A | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48801731 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801738 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801747 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48801771 | CCTT | C | Microsatellite | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001822|inframe_deletion | SO:0001822|inframe_deletion |
PRKDC | chr8 | 48801790 | C | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48801791 | AGATT | A | Deletion | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48802046 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48802573 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48802690 | T | TATA | Microsatellite | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48802690 | TATA | T | Microsatellite | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48802830 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48802837 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48802837 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48802875 | C | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48802880 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48802948 | C | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48802958 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48802968 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48802969 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48802970 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48802978 | T | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48802979 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48802991 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48803004 | A | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48803048 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48803055 | T | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48805697 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48805713 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48805714 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805726 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805727 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805744 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805759 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805760 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805765 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805773 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48805788 | C | T | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48805803 | G | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48805806 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48805815 | A | AC | Insertion | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
PRKDC | chr8 | 48805816 | A | AGG | Duplication | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
PRKDC | chr8 | 48805816 | A | G | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805837 | C | T | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805848 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805878 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805914 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805924 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48805938 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48805955 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48809730 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48809737 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48809737 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48809745 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48809757 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48809772 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48809777 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48809792 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48809812 | G | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48809830 | CAAT | C | Deletion | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001822|inframe_deletion | SO:0001822|inframe_deletion |
PRKDC | chr8 | 48809854 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48811032 | C | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48811044 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48811106 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48811126 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48812928 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48812929 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48812982 | C | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48812982 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48813016 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48813036 | T | TA | Duplication | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48813147 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48815134 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48815141 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48815142 | A | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48815161 | T | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48815176 | C | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48815186 | T | C | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48815241 | G | A | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48815247 | TCTC | T | Deletion | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001822|inframe_deletion | SO:0001822|inframe_deletion |
PRKDC | chr8 | 48815266 | T | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48815293 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48815297 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48815306 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48815338 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48815346 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48815353 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48815354 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48817093 | G | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48817411 | G | T | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48817412 | AATCAACT | A | Deletion | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48817421 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48817434 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48817460 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48817502 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48817505 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48817516 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48817539 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48817590 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48824965 | C | G | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48825005 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48825013 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48825014 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48825064 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48825066 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48825070 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48825103 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48826333 | TA | T | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48826382 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48826456 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48826457 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48826482 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48826487 | G | A | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48826498 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48826512 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48826525 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48826546 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48826575 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48826578 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48826580 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48826604 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48826613 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48826622 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48826927 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48827896 | A | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48827905 | T | C | single_nucleotide_variant | Uncertain_significance | Microcephaly | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48827906 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48827954 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48827976 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48830863 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48830868 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48830905 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48830930 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48830931 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48830942 | A | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48839876 | G | C | single_nucleotide_variant | Uncertain_significance | Microcephaly | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48839882 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48839882 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48839903 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48839909 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48839917 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48839920 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48840100 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48840324 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48840325 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48840339 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48840341 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48840345 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48840360 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48840370 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48840393 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48840394 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48840447 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48840469 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48840714 | C | CT | Duplication | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48841617 | CATG | C | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48841679 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48841691 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48841708 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48841710 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48842155 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48842425 | T | C | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48842452 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48842464 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48842474 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48842494 | A | G | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48842497 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48842497 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48842505 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48842520 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48842554 | T | C | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48842569 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48842582 | C | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48842584 | A | C | single_nucleotide_variant | Benign/Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48842889 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48843189 | AC | A | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48843246 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48843262 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48843281 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48843297 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48843305 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48843306 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48843310 | G | C | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48843315 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48843333 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48843926 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48844056 | G | GT | Duplication | Pathogenic | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48845594 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48845596 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48845613 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48845628 | A | C | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48845642 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48845643 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48845663 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48845680 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48845710 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48845711 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48845716 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48845726 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48846258 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48846519 | T | C | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48846558 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48846566 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48846567 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48846584 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48846609 | T | C | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48846611 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48846613 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48846619 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48846622 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48846623 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48847564 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48847586 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48847628 | G | GA | Duplication | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48847705 | T | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48848281 | T | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48848296 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48848350 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48848371 | C | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48848401 | G | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48848402 | A | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48848427 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48848441 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48848464 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48848466 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48848632 | AAC | A | Microsatellite | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48848933 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48848939 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48848955 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48848973 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48848978 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48848979 | G | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48848988 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48849004 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48849020 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48849058 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48849060 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48849068 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48849075 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48849076 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48849078 | C | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001574|splice_acceptor_variant | SO:0001574|splice_acceptor_variant |
PRKDC | chr8 | 48849342 | A | AT | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48849342 | AT | A | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48852101 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48852114 | T | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48852121 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48852162 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48852170 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48852184 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48852200 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48852207 | C | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48852221 | T | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48852225 | C | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48852233 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48852241 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48852267 | C | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48852328 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48855811 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48855835 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48855864 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48855898 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48855900 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48856423 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48856427 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48856547 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48856555 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48866189 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48866208 | C | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48866235 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48866246 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48866295 | TAAG | T | Microsatellite | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48866369 | GGGTCTTAAGTTCACCCAGAAAAGCGC | G | Deletion | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
PRKDC | chr8 | 48866394 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48866395 | C | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48866416 | T | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48866483 | A | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48866483 | A | T | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48866788 | T | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48866881 | A | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48866888 | T | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48866889 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48866902 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48866909 | A | AT | Duplication | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
PRKDC | chr8 | 48866979 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48866980 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48866984 | G | C | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48867015 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48867152 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48867273 | G | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48868419 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48868427 | TAA | T | Deletion | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48868440 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48868517 | T | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48868517 | T | TA | Duplication | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48869533 | T | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48869538 | C | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48869737 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48869755 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48869790 | A | G | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48869821 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48869906 | T | C | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48869923 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48869924 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48869967 | G | T | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48869995 | T | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48869997 | C | CA | Duplication | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48870181 | CTA | C | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48872238 | C | CA | Duplication | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48872515 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001627|intron_variant | SO:0001627|intron_variant |
PRKDC | chr8 | 48872535 | A | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48872558 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48872566 | C | G | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48872587 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48872600 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48872618 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48872630 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48872645 | C | T | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48872650 | G | C | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48872653 | G | A | single_nucleotide_variant | Likely_benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
PRKDC | chr8 | 48872670 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48872671 | C | A | single_nucleotide_variant | Benign | Immunodeficiency_26_with_or_without_neurologic_abnormalities|not_specified | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48872676 | G | A | single_nucleotide_variant | Uncertain_significance | Immunodeficiency_26_with_or_without_neurologic_abnormalities | SO:0001583|missense_variant | SO:0001583|missense_variant |
PRKDC | chr8 | 48872715 | C | T | single_nucleotide_variant | Likely_benign | not_specified | | |