PPI interactors with RMND1 |
FAM9B, RIC3, SRPRB, DDRGK1, CACNG4, ST3GAL4, SLC39A4, P2RY12, GLT8D2, LPAR1, FAM134C, TUSC5, Tmem109, NDUFA4, DEFB104A, CHST12, TPTE2, DNAJC1, SLC39A9, IPPK, UXS1, TMEM5, RXFP4, GALNT6, HTR2C, ST3GAL1, SPPL2B, FPR2, CHSY3, GALNT16, C3AR1, GALNT7, RNF4, ESR2, PTPRN2, PLEKHA4, nsp6, HSCB, KIF14, ACAD9, ACOT2, AFG3L2, AIFM1, ATP5D, CHCHD3, CLPB, CLPX, COQ5, COX15, COX2, COX4I1, COX5A, COX5B, COX6A1, COX6B1, COX6C, COX7A2L, CTSB, DAP3, DHX30, DLST, ECHS1, ECSIT, ELAC2, ERAL1, ETFA, ETFB, GLS, GLUD1, HADHA, HNRNPUL2, HSDL2, IARS2, IMMT, IVD, KIAA0391, LARS2, LETM1, LRPPRC, LY6G5C, MRPL12, MRPL37, MRPL44, MRPS10, MRPS14, MRPS16, MRPS17, MRPS18B, MRPS2, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS28, MRPS31, MRPS34, MRPS35, MRPS5, MRPS6, MRPS7, MRPS9, MTX2, MYH10, MYO1C, MYO1D, NDUFA12, NDUFA5, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB10, NDUFS1, NDUFS2, NDUFS3, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, NFS1, OCIAD1, OCIAD2, OGDH, OXA1L, PDK3, PDPR, PHB, PLGRKT, POLDIP2, PPIF, PTCD3, PUS1, PYCR1, PYCR2, SAMM50, SDHA, SHMT2, SLC30A9, SLIRP, STOML2, TACO1, TARS2, TEFM, TIMM44, TIMMDC1, VARS2, VWA8, DDX39A, C5AR1, KRTCAP2, CCR6, PTPRT, MLNR, KCNH2, B3GALT5, TMEM106B, GLT6D1, GALNT2, BTNL9, PDE3A, CHODL, EFNA4, LEAP2, B3GAT2, KLRK1, PTGFRN, SLC51B, GALNT8, TPST2, MFNG, PGA3, PLEKHM3, CRELD1, SMIM21, CHST7, CR1L, HSD17B3, GPR17, FFAR1, S1PR4, LPAR2, P2RY2, TMEM43, GPC1, ZRANB1, |
Gene | Chr | Position | RefSeq | VarSeq | RefSeeq | VarType | Pathogenic | Disease | VarInfo |
RMND1 | chr6 | 151725993 | C | CATTT | Microsatellite | Benign | not_provided | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
RMND1 | chr6 | 151726175 | G | T | single_nucleotide_variant | Benign | not_provided | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
RMND1 | chr6 | 151726300 | G | C | single_nucleotide_variant | Benign | not_provided | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
RMND1 | chr6 | 151726371 | C | G | single_nucleotide_variant | Pathogenic | Combined_oxidative_phosphorylation_deficiency_11|Mitochondrial_disease|Inborn_genetic_diseases | SO:0001578|stop_lost | SO:0001578|stop_lost |
RMND1 | chr6 | 151726371 | C | T | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
RMND1 | chr6 | 151726372 | A | G | single_nucleotide_variant | Likely_pathogenic | Inborn_genetic_diseases | SO:0001578|stop_lost | SO:0001578|stop_lost |
RMND1 | chr6 | 151726385 | T | C | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
RMND1 | chr6 | 151726399 | T | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151726413 | A | G | single_nucleotide_variant | Uncertain_significance | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151726756 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151726759 | G | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151726797 | GC | G | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151726829 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151726854 | C | A | single_nucleotide_variant | Pathogenic | Mitochondrial_disease | SO:0001575|splice_donor_variant | SO:0001575|splice_donor_variant |
RMND1 | chr6 | 151726869 | G | A | single_nucleotide_variant | Pathogenic | Mitochondrial_disease | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151726886 | T | A | single_nucleotide_variant | Uncertain_significance | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151726892 | C | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151726922 | C | T | single_nucleotide_variant | Pathogenic | Combined_oxidative_phosphorylation_deficiency_11|Mitochondrial_disease | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151726963 | A | G | single_nucleotide_variant | Benign/Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
RMND1 | chr6 | 151727101 | TCA | T | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151727208 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151727254 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151738131 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151738370 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151738376 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151738410 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151738447 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
RMND1 | chr6 | 151738456 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
RMND1 | chr6 | 151738529 | C | T | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Combined_oxidative_phosphorylation_deficiency_11|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151738566 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151738627 | CT | C | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151738854 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151742410 | A | G | single_nucleotide_variant | Uncertain_significance | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151742420 | C | T | single_nucleotide_variant | Uncertain_significance | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151742457 | C | CTCA | Insertion | Uncertain_significance | not_provided | SO:0001574|splice_acceptor_variant | SO:0001574|splice_acceptor_variant |
RMND1 | chr6 | 151742541 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151742542 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151743408 | CTATT | C | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151743629 | A | C | single_nucleotide_variant | Benign | Combined_oxidative_phosphorylation_deficiency_11|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151743661 | A | G | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151743673 | T | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151743745 | G | GA | Duplication | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151743938 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151743948 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151744403 | A | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151744649 | T | C | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151744671 | A | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151744677 | T | C | single_nucleotide_variant | Uncertain_significance | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151744698 | A | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151744738 | T | A | single_nucleotide_variant | Likely_pathogenic | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151744739 | T | A | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151744740 | TC | T | Deletion | Pathogenic | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
RMND1 | chr6 | 151744745 | C | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151744811 | C | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151744937 | T | TC | Duplication | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151744986 | C | CT | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151744986 | CT | C | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151745022 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151748320 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151748334 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151748510 | CA | C | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151748614 | TACTC | T | Deletion | Pathogenic | Nephronophthisis | SO:0001575|splice_donor_variant | SO:0001575|splice_donor_variant |
RMND1 | chr6 | 151748616 | C | T | single_nucleotide_variant | Pathogenic | Mitochondrial_disease | SO:0001575|splice_donor_variant | SO:0001575|splice_donor_variant |
RMND1 | chr6 | 151748653 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151748664 | G | A | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
RMND1 | chr6 | 151748808 | C | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151748938 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151748995 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151750960 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151751037 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151751274 | GT | G | Deletion | Likely_pathogenic | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
RMND1 | chr6 | 151751289 | T | C | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | Nephronophthisis|Combined_oxidative_phosphorylation_deficiency_11|Mitochondrial_oxidative_phosphorylation_disorder|Mitochondrial_disease|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151751291 | C | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001587|nonsense | SO:0001587|nonsense |
RMND1 | chr6 | 151751326 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151751332 | G | C | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151751412 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151753995 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151754058 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151754273 | T | C | single_nucleotide_variant | Benign | Combined_oxidative_phosphorylation_deficiency_11|not_specified|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151754311 | G | A | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151754348 | C | T | single_nucleotide_variant | Pathogenic | Mitochondrial_disease | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151754427 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151754572 | A | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757240 | C | CA | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757247 | C | CA | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757247 | CA | C | Deletion | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757250 | A | AC | Insertion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757251 | A | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757252 | A | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757327 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757332 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757568 | CAAG | C | Microsatellite | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757581 | C | A | single_nucleotide_variant | Pathogenic | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151757612 | G | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
RMND1 | chr6 | 151757629 | G | A | single_nucleotide_variant | Pathogenic | Mitochondrial_disease | SO:0001587|nonsense | SO:0001587|nonsense |
RMND1 | chr6 | 151757633 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
RMND1 | chr6 | 151757660 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
RMND1 | chr6 | 151757661 | G | T | single_nucleotide_variant | Pathogenic | Mitochondrial_disease | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151757664 | G | A | single_nucleotide_variant | Uncertain_significance | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001583|missense_variant | SO:0001583|missense_variant |
RMND1 | chr6 | 151757745 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757907 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151757960 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151758029 | A | AATG | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151766118 | ATTTT | A | Deletion | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151766162 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151766199 | A | G | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151766397 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151766442 | C | T | single_nucleotide_variant | Pathogenic | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001575|splice_donor_variant,SO:0001627|intron_variant | SO:0001575|splice_donor_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766446 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766449 | CACAG | C | Microsatellite | Likely_pathogenic | not_provided | SO:0001587|nonsense,SO:0001627|intron_variant | SO:0001587|nonsense,SO:0001627|intron_variant |
RMND1 | chr6 | 151766461 | TG | T | Deletion | Pathogenic | not_provided | SO:0001589|frameshift_variant,SO:0001627|intron_variant | SO:0001589|frameshift_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766500 | T | C | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766552 | G | A | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766558 | AC | A | Deletion | Likely_pathogenic | Combined_oxidative_phosphorylation_deficiency_11 | SO:0001589|frameshift_variant,SO:0001627|intron_variant | SO:0001589|frameshift_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766578 | T | C | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766627 | A | T | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766655 | TG | T | Deletion | Likely_pathogenic | not_provided | SO:0001589|frameshift_variant,SO:0001627|intron_variant | SO:0001589|frameshift_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766701 | T | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766746 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766791 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant,SO:0001627|intron_variant | SO:0001819|synonymous_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766807 | C | T | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766822 | C | A | single_nucleotide_variant | Benign | Combined_oxidative_phosphorylation_deficiency_11|not_specified|not_provided | SO:0001583|missense_variant,SO:0001627|intron_variant | SO:0001583|missense_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151766859 | AC | A | Deletion | Pathogenic | Combined_oxidative_phosphorylation_deficiency_11|not_provided | SO:0001589|frameshift_variant,SO:0001627|intron_variant | SO:0001589|frameshift_variant,SO:0001627|intron_variant |
RMND1 | chr6 | 151767257 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
RMND1 | chr6 | 151773160 | GGAAGA | G | Microsatellite | Likely_benign | not_specified | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
RMND1 | chr6 | 151773163 | AGAG | A | Deletion | Likely_benign | not_specified | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
RMND1 | chr6 | 151773164 | G | A | single_nucleotide_variant | Benign | not_specified | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
RMND1 | chr6 | 151773173 | G | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
RMND1 | chr6 | 151773206 | C | G | single_nucleotide_variant | Benign | not_provided | SO:0001623|5_prime_UTR_variant | SO:0001623|5_prime_UTR_variant |
RMND1 | chr6 | 151773320 | T | A | single_nucleotide_variant | Benign | not_provided | | |
RMND1 | chr6 | 151773353 | G | C | single_nucleotide_variant | Benign | not_provided | | |