NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000033054]|not provided [RCV000523226] |
Chr11:68033140 [GRCh38] Chr11:67800607 [GRCh37] Chr11:11q13.2 |
pathogenic|uncertain significance |
NM_002496.4(NDUFS8):c.476C>A (p.Ala159Asp) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000033055] |
Chr11:68036356 [GRCh38] Chr11:67803823 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_002496.4(NDUFS8):c.187G>C (p.Glu63Gln) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000033056] |
Chr11:68033000 [GRCh38] Chr11:67800467 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) |
single nucleotide variant |
Leigh syndrome [RCV000762861]|Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000007941]|not provided [RCV000442702] |
Chr11:68033147 [GRCh38] Chr11:67800614 [GRCh37] Chr11:11q13.2 |
pathogenic|likely pathogenic |
NM_002496.4(NDUFS8):c.305G>A (p.Arg102His) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000007942]|not provided [RCV000426335] |
Chr11:68033216 [GRCh38] Chr11:67800683 [GRCh37] Chr11:11q13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000007943] |
Chr11:68033165 [GRCh38] Chr11:67800632 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_002496.4(NDUFS8):c.413G>A (p.Arg138His) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000007944]|not provided [RCV002512884] |
Chr11:68036293 [GRCh38] Chr11:67803760 [GRCh37] Chr11:11q13.2 |
pathogenic|uncertain significance |
GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1 |
copy number loss |
See cases [RCV000052683] |
Chr11:67446153..68679073 [GRCh38] Chr11:67213624..68446541 [GRCh37] Chr11:66970200..68203117 [NCBI36] Chr11:11q13.2 |
pathogenic |
NM_002496.3(NDUFS8):c.79C>T (p.Leu27Phe) |
single nucleotide variant |
Malignant melanoma [RCV000069640] |
Chr11:68032306 [GRCh38] Chr11:67799773 [GRCh37] Chr11:67556349 [NCBI36] Chr11:11q13.2 |
not provided |
NM_002496.3(NDUFS8):c.492C>T (p.Ala164=) |
single nucleotide variant |
Malignant melanoma [RCV000062334] |
Chr11:68036372 [GRCh38] Chr11:67803839 [GRCh37] Chr11:67560415 [NCBI36] Chr11:11q13.2 |
not provided |
NM_002496.4(NDUFS8):c.-45A>C |
single nucleotide variant |
Leigh syndrome [RCV001108402]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001108401]|not provided [RCV004704982]|not specified [RCV000127164] |
Chr11:68030689 [GRCh38] Chr11:67798156 [GRCh37] Chr11:11q13.2 |
benign|likely benign |
Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1 |
copy number loss |
See cases [RCV000135609] |
Chr11:67217264..69448598 [GRCh38] Chr11:66984735..69263366 [GRCh37] Chr11:66741311..68972547 [NCBI36] Chr11:11q13.2-13.3 |
likely pathogenic |
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV001027993]|not provided [RCV000514571] |
Chr11:68036340 [GRCh38] Chr11:67803807 [GRCh37] Chr11:11q13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 |
copy number loss |
See cases [RCV000142138] |
Chr11:68031693..71593495 [GRCh38] Chr11:67799160..71304541 [GRCh37] Chr11:67555736..70982189 [NCBI36] Chr11:11q13.2-13.4 |
likely pathogenic |
NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu) |
single nucleotide variant |
Leigh syndrome [RCV000200148]|not provided [RCV001853220] |
Chr11:68033254 [GRCh38] Chr11:67800721 [GRCh37] Chr11:11q13.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) |
single nucleotide variant |
Leigh syndrome [RCV000389629]|Mitochondrial complex I deficiency [RCV000276295]|not provided [RCV001731428] |
Chr11:68032291 [GRCh38] Chr11:67799758 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_002496.4(NDUFS8):c.428A>T (p.Tyr143Phe) |
single nucleotide variant |
not provided [RCV000197784] |
Chr11:68036308 [GRCh38] Chr11:67803775 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_002496.4(NDUFS8):c.611A>T (p.Gln204Leu) |
single nucleotide variant |
not provided [RCV000197878] |
Chr11:68036571 [GRCh38] Chr11:67804038 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.313C>T (p.Pro105Ser) |
single nucleotide variant |
not provided [RCV000195877] |
Chr11:68033224 [GRCh38] Chr11:67800691 [GRCh37] Chr11:11q13.2 |
likely pathogenic|uncertain significance |
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002517245]|Leigh syndrome [RCV000765008]|Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003458354]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001108403]|NDUFS8-related disorder [RCV003907737]|not provided [RCV000726015] |
Chr11:68032155 [GRCh38] Chr11:67799622 [GRCh37] Chr11:11q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002496.3(NDUFS8):c.481C>A (p.Pro161Thr) |
single nucleotide variant |
not provided [RCV000196020] |
Chr11:68036361 [GRCh38] Chr11:67803828 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_002496.4(NDUFS8):c.373-5C>T |
single nucleotide variant |
NDUFS8-related disorder [RCV003902735]|not provided [RCV000487603] |
Chr11:68036248 [GRCh38] Chr11:67803715 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_002496.4(NDUFS8):c.199+5G>A |
single nucleotide variant |
Leigh syndrome [RCV000282341]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000337029] |
Chr11:68033017 [GRCh38] Chr11:67800484 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.199+15T>G |
single nucleotide variant |
Leigh syndrome [RCV000283040]|Mitochondrial complex 1 deficiency, nuclear type 2 [RCV001778899]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000377576]|not provided [RCV001515841] |
Chr11:68033027 [GRCh38] Chr11:67800494 [GRCh37] Chr11:11q13.2 |
benign |
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) |
single nucleotide variant |
Leigh syndrome [RCV000307867]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000344135]|not provided [RCV000490220] |
Chr11:68033210 [GRCh38] Chr11:67800677 [GRCh37] Chr11:11q13.2 |
likely pathogenic|uncertain significance |
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) |
single nucleotide variant |
Leigh syndrome [RCV000308579]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000390917]|not provided [RCV000907728] |
Chr11:68036339 [GRCh38] Chr11:67803806 [GRCh37] Chr11:11q13.2 |
benign|likely benign|uncertain significance |
NM_002496.3(NDUFS8):c.-76C>T |
single nucleotide variant |
Leigh syndrome [RCV000275260]|Mitochondrial complex I deficiency [RCV000330456] |
Chr11:68030658 [GRCh38] Chr11:67798125 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.502-10C>T |
single nucleotide variant |
Leigh syndrome [RCV000315895]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000260796]|NDUFS8-related disorder [RCV003950032]|not provided [RCV000898642]|not specified [RCV000602666] |
Chr11:68036452 [GRCh38] Chr11:67803919 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_002496.4(NDUFS8):c.*44C>T |
single nucleotide variant |
Leigh syndrome [RCV000352578]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000293152] |
Chr11:68036637 [GRCh38] Chr11:67804104 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) |
single nucleotide variant |
Leigh syndrome [RCV000356692]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000265926]|not provided [RCV001718621] |
Chr11:68036557 [GRCh38] Chr11:67804024 [GRCh37] Chr11:11q13.2 |
benign|likely benign|uncertain significance |
NM_002496.4(NDUFS8):c.200-14C>T |
single nucleotide variant |
Leigh syndrome [RCV000342747]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000401109]|not provided [RCV002520746] |
Chr11:68033097 [GRCh38] Chr11:67800564 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_002496.4(NDUFS8):c.501+12C>G |
single nucleotide variant |
Leigh syndrome [RCV000367973]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000390827]|not provided [RCV002056233] |
Chr11:68036393 [GRCh38] Chr11:67803860 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) |
single nucleotide variant |
Leigh syndrome [RCV000380344]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000321000]|not provided [RCV002520747] |
Chr11:68036558 [GRCh38] Chr11:67804025 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.502-13C>T |
single nucleotide variant |
Leigh syndrome [RCV000369510]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000314847]|not provided [RCV002056234]|not specified [RCV000427186] |
Chr11:68036449 [GRCh38] Chr11:67803916 [GRCh37] Chr11:11q13.2 |
benign|likely benign|uncertain significance |
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) |
single nucleotide variant |
Leigh syndrome [RCV000372098]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000317408] |
Chr11:68032946 [GRCh38] Chr11:67800413 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.*26T>G |
single nucleotide variant |
Leigh syndrome [RCV000291771]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000381321] |
Chr11:68036619 [GRCh38] Chr11:67804086 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.*40A>G |
single nucleotide variant |
Leigh syndrome [RCV000346629]|Mitochondrial complex I deficiency [RCV000399461]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001109242]|Osteopetrosis [RCV000370635]|not provided [RCV001660604] |
Chr11:68036633 [GRCh38] Chr11:67804100 [GRCh37] Chr11:11q13.2 |
benign|likely benign|uncertain significance |
NM_002496.3(NDUFS8):c.-98G>A |
single nucleotide variant |
Leigh syndrome [RCV000310649]|Mitochondrial complex I deficiency [RCV000365206] |
Chr11:68030636 [GRCh38] Chr11:67798103 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.*14C>T |
single nucleotide variant |
Leigh syndrome [RCV000285968]|Mitochondrial complex I deficiency [RCV000326666]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001114885]|Osteopetrosis [RCV000313524]|not provided [RCV001653506] |
Chr11:68036607 [GRCh38] Chr11:67804074 [GRCh37] Chr11:11q13.2 |
benign|likely benign |
NM_002496.4(NDUFS8):c.170G>A (p.Arg57His) |
single nucleotide variant |
not provided [RCV002524834]|not specified [RCV000437809] |
Chr11:68032983 [GRCh38] Chr11:67800450 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_002496.4(NDUFS8):c.573C>T (p.Asn191=) |
single nucleotide variant |
not provided [RCV000964211] |
Chr11:68036533 [GRCh38] Chr11:67804000 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.576G>T (p.Gly192=) |
single nucleotide variant |
not specified [RCV000431345] |
Chr11:68036536 [GRCh38] Chr11:67804003 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) |
single nucleotide variant |
Leigh syndrome [RCV001111480]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001111479]|NDUFS8-related disorder [RCV003912624]|not provided [RCV000676967]|not specified [RCV000431887] |
Chr11:68033166 [GRCh38] Chr11:67800633 [GRCh37] Chr11:11q13.2 |
benign|likely benign|uncertain significance |
NM_002496.4(NDUFS8):c.199+15T>A |
single nucleotide variant |
not provided [RCV002062376]|not specified [RCV000442240] |
Chr11:68033027 [GRCh38] Chr11:67800494 [GRCh37] Chr11:11q13.2 |
benign|likely benign |
NM_002496.4(NDUFS8):c.200-8G>T |
single nucleotide variant |
not provided [RCV002059726]|not specified [RCV000435423] |
Chr11:68033103 [GRCh38] Chr11:67800570 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.110-11C>T |
single nucleotide variant |
not provided [RCV002519553]|not specified [RCV000419159] |
Chr11:68032912 [GRCh38] Chr11:67800379 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.300G>A (p.Ala100=) |
single nucleotide variant |
NDUFS8-related disorder [RCV004757230]|not provided [RCV000910288] |
Chr11:68033211 [GRCh38] Chr11:67800678 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.372+11G>T |
single nucleotide variant |
not specified [RCV000426890] |
Chr11:68033294 [GRCh38] Chr11:67800761 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.*19C>T |
single nucleotide variant |
not provided [RCV001703471] |
Chr11:68036612 [GRCh38] Chr11:67804079 [GRCh37] Chr11:11q13.2 |
likely benign |
GRCh37/hg19 11q13.2(chr11:67764080-67811086)x3 |
copy number gain |
See cases [RCV000448016] |
Chr11:67764080..67811086 [GRCh37] Chr11:11q13.2 |
benign |
GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1 |
copy number loss |
See cases [RCV000510219] |
Chr11:67799160..70701268 [GRCh37] Chr11:11q13.2-13.4 |
likely pathogenic |
NM_002496.4(NDUFS8):c.436G>A (p.Asp146Asn) |
single nucleotide variant |
not provided [RCV000493719] |
Chr11:68036316 [GRCh38] Chr11:67803783 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_002496.4(NDUFS8):c.292G>A (p.Glu98Lys) |
single nucleotide variant |
not provided [RCV000492994] |
Chr11:68033203 [GRCh38] Chr11:67800670 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met) |
single nucleotide variant |
Leigh syndrome [RCV000625885] |
Chr11:68036364 [GRCh38] Chr11:67803831 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.-16GCG[2] |
microsatellite |
not specified [RCV000602140] |
Chr11:68030718..68030720 [GRCh38] Chr11:67798185..67798187 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile) |
single nucleotide variant |
Leigh syndrome [RCV000578254]|not provided [RCV001815416] |
Chr11:68036321 [GRCh38] Chr11:67803788 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_002496.4(NDUFS8):c.237G>A (p.Pro79=) |
single nucleotide variant |
not provided [RCV005056276]|not specified [RCV000600231] |
Chr11:68033148 [GRCh38] Chr11:67800615 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.373-211dup |
duplication |
not provided [RCV001665261] |
Chr11:68036017..68036018 [GRCh38] Chr11:67803484..67803485 [GRCh37] Chr11:11q13.2 |
benign |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_002496.4(NDUFS8):c.1-35C>T |
single nucleotide variant |
not provided [RCV001586558] |
Chr11:68032117 [GRCh38] Chr11:67799584 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.109+123T>C |
single nucleotide variant |
not provided [RCV001707337] |
Chr11:68032459 [GRCh38] Chr11:67799926 [GRCh37] Chr11:11q13.2 |
benign |
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) |
single nucleotide variant |
Leigh syndrome [RCV001103232]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001103233]|not provided [RCV000923575] |
Chr11:68032170 [GRCh38] Chr11:67799637 [GRCh37] Chr11:11q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002496.4(NDUFS8):c.59-10C>G |
single nucleotide variant |
not provided [RCV000942556] |
Chr11:68032276 [GRCh38] Chr11:67799743 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.373-267T>G |
single nucleotide variant |
not provided [RCV000831000] |
Chr11:68035986 [GRCh38] Chr11:67803453 [GRCh37] Chr11:11q13.2 |
benign |
NM_002496.4(NDUFS8):c.384C>G (p.Ile128Met) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV001174541] |
Chr11:68036264 [GRCh38] Chr11:67803731 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) |
single nucleotide variant |
Leigh syndrome [RCV001111481]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001111482] |
Chr11:68033180 [GRCh38] Chr11:67800647 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His) |
single nucleotide variant |
Leigh syndrome [RCV001103231]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001103230] |
Chr11:68032156 [GRCh38] Chr11:67799623 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.-1+38G>C |
single nucleotide variant |
not provided [RCV001576712] |
Chr11:68030771 [GRCh38] Chr11:67798238 [GRCh37] Chr11:11q13.2 |
likely benign |
NC_000011.9:g.(?_64973914)_(70052579_?)dup |
duplication |
Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] |
Chr11:64973914..70052579 [GRCh37] Chr11:11q13.1-13.3 |
uncertain significance |
NC_000011.9:g.(?_67759017)_(68216538_?)dup |
duplication |
not provided [RCV003107647] |
Chr11:67759017..68216538 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.1-139G>C |
single nucleotide variant |
not provided [RCV001681105] |
Chr11:68032013 [GRCh38] Chr11:67799480 [GRCh37] Chr11:11q13.2 |
benign |
NM_002496.4(NDUFS8):c.110-284C>T |
single nucleotide variant |
not provided [RCV001552647] |
Chr11:68032639 [GRCh38] Chr11:67800106 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg) |
single nucleotide variant |
Leigh syndrome [RCV001114883]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001114884] |
Chr11:68036534 [GRCh38] Chr11:67804001 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.325G>A (p.Glu109Lys) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV002470355] |
Chr11:68033236 [GRCh38] Chr11:67800703 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3 |
copy number gain |
not provided [RCV001006414] |
Chr11:66820585..67979510 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.373-221_373-211del |
deletion |
not provided [RCV001617029] |
Chr11:68036018..68036028 [GRCh38] Chr11:67803485..67803495 [GRCh37] Chr11:11q13.2 |
benign |
NM_002496.4(NDUFS8):c.*1C>T |
single nucleotide variant |
not provided [RCV001698852] |
Chr11:68036594 [GRCh38] Chr11:67804061 [GRCh37] Chr11:11q13.2 |
likely benign |
NC_000011.10:g.68036689C>T |
single nucleotide variant |
not provided [RCV001681629] |
Chr11:68036689 [GRCh38] Chr11:67804156 [GRCh37] Chr11:11q13.2 |
benign |
NM_002496.4(NDUFS8):c.53G>T (p.Arg18Leu) |
single nucleotide variant |
Leigh syndrome [RCV001335040]|not provided [RCV002547333] |
Chr11:68032204 [GRCh38] Chr11:67799671 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NC_000011.9:g.(?_59596957)_(68707199_?)dup |
duplication |
Familial temporal lobe epilepsy 8 [RCV001372442] |
Chr11:59596957..68707199 [GRCh37] Chr11:11q12.1-13.3 |
uncertain significance |
NM_002496.4(NDUFS8):c.59-22C>G |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV001779274]|not provided [RCV001643648] |
Chr11:68032264 [GRCh38] Chr11:67799731 [GRCh37] Chr11:11q13.2 |
benign |
NM_002496.4(NDUFS8):c.347T>C (p.Leu116Pro) |
single nucleotide variant |
not provided [RCV001762765] |
Chr11:68033258 [GRCh38] Chr11:67800725 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.454T>C (p.Tyr152His) |
single nucleotide variant |
See cases [RCV002252520] |
Chr11:68036334 [GRCh38] Chr11:67803801 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.328C>T (p.Arg110Cys) |
single nucleotide variant |
not provided [RCV001771136] |
Chr11:68033239 [GRCh38] Chr11:67800706 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.592G>A (p.Glu198Lys) |
single nucleotide variant |
not provided [RCV001768863] |
Chr11:68036552 [GRCh38] Chr11:67804019 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.585G>A (p.Trp195Ter) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003107938]|not provided [RCV002025602] |
Chr11:68036545 [GRCh38] Chr11:67804012 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.457T>C (p.Cys153Arg) |
single nucleotide variant |
not provided [RCV001984552] |
Chr11:68036337 [GRCh38] Chr11:67803804 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NC_000011.9:g.(?_67759017)_(67800770_?)dup |
duplication |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001943213] |
Chr11:67759017..67800770 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.85A>G (p.Ser29Gly) |
single nucleotide variant |
not provided [RCV001942945] |
Chr11:68032312 [GRCh38] Chr11:67799779 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.605A>C (p.Asn202Thr) |
single nucleotide variant |
not provided [RCV002030935] |
Chr11:68036565 [GRCh38] Chr11:67804032 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.380C>T (p.Thr127Ile) |
single nucleotide variant |
not provided [RCV001998349] |
Chr11:68036260 [GRCh38] Chr11:67803727 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.243C>A (p.Thr81=) |
single nucleotide variant |
not provided [RCV002147858] |
Chr11:68033154 [GRCh38] Chr11:67800621 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.110-10C>T |
single nucleotide variant |
not provided [RCV002188508] |
Chr11:68032913 [GRCh38] Chr11:67800380 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.318C>T (p.Ser106=) |
single nucleotide variant |
not provided [RCV002174156] |
Chr11:68033229 [GRCh38] Chr11:67800696 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.591C>T (p.Ala197=) |
single nucleotide variant |
not provided [RCV002131305] |
Chr11:68036551 [GRCh38] Chr11:67804018 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.273G>A (p.Leu91=) |
single nucleotide variant |
not provided [RCV002154455] |
Chr11:68033184 [GRCh38] Chr11:67800651 [GRCh37] Chr11:11q13.2 |
likely benign |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_002496.4(NDUFS8):c.499G>A (p.Glu167Lys) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV002289103] |
Chr11:68036379 [GRCh38] Chr11:67803846 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.170G>C (p.Arg57Pro) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV002468753] |
Chr11:68032983 [GRCh38] Chr11:67800450 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_002496.4(NDUFS8):c.159C>A (p.Asp53Glu) |
single nucleotide variant |
not provided [RCV002572003] |
Chr11:68032972 [GRCh38] Chr11:67800439 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.372+17A>G |
single nucleotide variant |
not provided [RCV002639203] |
Chr11:68033300 [GRCh38] Chr11:67800767 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.551A>T (p.Asn184Ile) |
single nucleotide variant |
not provided [RCV002658899] |
Chr11:68036511 [GRCh38] Chr11:67803978 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.53G>A (p.Arg18His) |
single nucleotide variant |
not provided [RCV002781361] |
Chr11:68032204 [GRCh38] Chr11:67799671 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.415C>T (p.Arg139Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002758211] |
Chr11:68036295 [GRCh38] Chr11:67803762 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.223C>T (p.Leu75=) |
single nucleotide variant |
not provided [RCV002620043] |
Chr11:68033134 [GRCh38] Chr11:67800601 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.169C>T (p.Arg57Cys) |
single nucleotide variant |
not provided [RCV002591503] |
Chr11:68032982 [GRCh38] Chr11:67800449 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.132C>T (p.Pro44=) |
single nucleotide variant |
not provided [RCV002625496] |
Chr11:68032945 [GRCh38] Chr11:67800412 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.297T>C (p.His99=) |
single nucleotide variant |
not provided [RCV002741148] |
Chr11:68033208 [GRCh38] Chr11:67800675 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.200-13G>A |
single nucleotide variant |
not provided [RCV002800624] |
Chr11:68033098 [GRCh38] Chr11:67800565 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.628C>T (p.Arg210Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002764002] |
Chr11:68036588 [GRCh38] Chr11:67804055 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.600C>T (p.Ala200=) |
single nucleotide variant |
not provided [RCV002626685] |
Chr11:68036560 [GRCh38] Chr11:67804027 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.371A>G (p.Gln124Arg) |
single nucleotide variant |
not provided [RCV003042017] |
Chr11:68033282 [GRCh38] Chr11:67800749 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.216G>A (p.Leu72=) |
single nucleotide variant |
not provided [RCV002890394] |
Chr11:68033127 [GRCh38] Chr11:67800594 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.605del (p.Asn202fs) |
deletion |
not provided [RCV003031785] |
Chr11:68036564 [GRCh38] Chr11:67804031 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.32G>A (p.Arg11Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002964432] |
Chr11:68032183 [GRCh38] Chr11:67799650 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.307C>T (p.Arg103Trp) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003108141]|not provided [RCV003011235] |
Chr11:68033218 [GRCh38] Chr11:67800685 [GRCh37] Chr11:11q13.2 |
likely pathogenic|uncertain significance |
NM_002496.4(NDUFS8):c.161G>A (p.Arg54Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003289525]|not provided [RCV002577432] |
Chr11:68032974 [GRCh38] Chr11:67800441 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.185C>G (p.Thr62Ser) |
single nucleotide variant |
not provided [RCV002963015] |
Chr11:68032998 [GRCh38] Chr11:67800465 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.495C>T (p.Ile165=) |
single nucleotide variant |
not provided [RCV002580483] |
Chr11:68036375 [GRCh38] Chr11:67803842 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_002496.4(NDUFS8):c.392A>G (p.Glu131Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002702945] |
Chr11:68036272 [GRCh38] Chr11:67803739 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.412C>T (p.Arg138Cys) |
single nucleotide variant |
not provided [RCV002725619] |
Chr11:68036292 [GRCh38] Chr11:67803759 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.501+16G>A |
single nucleotide variant |
not provided [RCV002608499] |
Chr11:68036397 [GRCh38] Chr11:67803864 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.416G>A (p.Arg139Gln) |
single nucleotide variant |
not provided [RCV002583678] |
Chr11:68036296 [GRCh38] Chr11:67803763 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.18G>A (p.Thr6=) |
single nucleotide variant |
not provided [RCV002613175] |
Chr11:68032169 [GRCh38] Chr11:67799636 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.59-17C>T |
single nucleotide variant |
not provided [RCV002588898] |
Chr11:68032269 [GRCh38] Chr11:67799736 [GRCh37] Chr11:11q13.2 |
benign |
NM_002496.4(NDUFS8):c.84C>T (p.His28=) |
single nucleotide variant |
not provided [RCV002589182] |
Chr11:68032311 [GRCh38] Chr11:67799778 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.367G>T (p.Ala123Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003269547]|Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003142644] |
Chr11:68033278 [GRCh38] Chr11:67800745 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.308G>A (p.Arg103Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003193309] |
Chr11:68033219 [GRCh38] Chr11:67800686 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.160C>T (p.Arg54Trp) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003324450] |
Chr11:68032973 [GRCh38] Chr11:67800440 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_002496.4(NDUFS8):c.502-3C>T |
single nucleotide variant |
not provided [RCV003332783] |
Chr11:68036459 [GRCh38] Chr11:67803926 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh37/hg19 11q13.2(chr11:67799161-68393180)x1 |
copy number loss |
not provided [RCV003483126] |
Chr11:67799161..68393180 [GRCh37] Chr11:11q13.2 |
pathogenic |
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 |
copy number gain |
not provided [RCV003484842] |
Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5 |
pathogenic |
NM_002496.4(NDUFS8):c.201C>T (p.Gly67=) |
single nucleotide variant |
not provided [RCV003693009] |
Chr11:68033112 [GRCh38] Chr11:67800579 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV003849202] |
Chr11:68032152 [GRCh38] Chr11:67799619 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.110-20C>G |
single nucleotide variant |
not provided [RCV003546182] |
Chr11:68032903 [GRCh38] Chr11:67800370 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.329G>A (p.Arg110His) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003493105] |
Chr11:68033240 [GRCh38] Chr11:67800707 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.319G>A (p.Gly107Arg) |
single nucleotide variant |
not provided [RCV003828599] |
Chr11:68033230 [GRCh38] Chr11:67800697 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.405T>C (p.Asp135=) |
single nucleotide variant |
not provided [RCV003664141] |
Chr11:68036285 [GRCh38] Chr11:67803752 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.502-11T>G |
single nucleotide variant |
not provided [RCV003696794] |
Chr11:68036451 [GRCh38] Chr11:67803918 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.426C>G (p.Arg142=) |
single nucleotide variant |
not provided [RCV003702562] |
Chr11:68036306 [GRCh38] Chr11:67803773 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.78C>T (p.Ser26=) |
single nucleotide variant |
not provided [RCV003541842] |
Chr11:68032305 [GRCh38] Chr11:67799772 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.373-4G>A |
single nucleotide variant |
not provided [RCV003722852] |
Chr11:68036249 [GRCh38] Chr11:67803716 [GRCh37] Chr11:11q13.2 |
likely benign |
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 |
copy number gain |
not specified [RCV003986944] |
Chr11:56895955..69295402 [GRCh37] Chr11:11q12.1-13.3 |
likely pathogenic |
NM_002496.4(NDUFS8):c.372+1G>A |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003988300] |
Chr11:68033284 [GRCh38] Chr11:67800751 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_002496.4(NDUFS8):c.*10G>A |
single nucleotide variant |
NDUFS8-related disorder [RCV003894454] |
Chr11:68036603 [GRCh38] Chr11:67804070 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.121A>C (p.Met41Leu) |
single nucleotide variant |
not provided [RCV004592345] |
Chr11:68032934 [GRCh38] Chr11:67800401 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.5G>T (p.Arg2Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004480345] |
Chr11:68032156 [GRCh38] Chr11:67799623 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.417G>C (p.Arg139=) |
single nucleotide variant |
not provided [RCV004585278] |
Chr11:68036297 [GRCh38] Chr11:67803764 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.220_372+130del |
deletion |
not provided [RCV004576098] |
Chr11:68033125..68033407 [GRCh38] Chr11:67800592..67800874 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_002496.4(NDUFS8):c.376A>G (p.Ile126Val) |
single nucleotide variant |
not provided [RCV004575108] |
Chr11:68036256 [GRCh38] Chr11:67803723 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_002496.4(NDUFS8):c.423C>G (p.Thr141=) |
single nucleotide variant |
not provided [RCV004585279] |
Chr11:68036303 [GRCh38] Chr11:67803770 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.429T>C (p.Tyr143=) |
single nucleotide variant |
not provided [RCV004585280] |
Chr11:68036309 [GRCh38] Chr11:67803776 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.456C>T (p.Tyr152=) |
single nucleotide variant |
not provided [RCV004585281] |
Chr11:68036336 [GRCh38] Chr11:67803803 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.501+5G>A |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV004595007] |
Chr11:68036386 [GRCh38] Chr11:67803853 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_002496.4(NDUFS8):c.424C>T (p.Arg142Cys) |
single nucleotide variant |
not provided [RCV004771373] |
Chr11:68036304 [GRCh38] Chr11:67803771 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.329G>T (p.Arg110Leu) |
single nucleotide variant |
not provided [RCV004781119] |
Chr11:68033240 [GRCh38] Chr11:67800707 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.197G>C (p.Arg66Pro) |
single nucleotide variant |
not provided [RCV004776158] |
Chr11:68033010 [GRCh38] Chr11:67800477 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.367G>A (p.Ala123Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004961500] |
Chr11:68033278 [GRCh38] Chr11:67800745 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.230G>A (p.Arg77Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004961501] |
Chr11:68033141 [GRCh38] Chr11:67800608 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_002496.4(NDUFS8):c.304C>T (p.Arg102Cys) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV005233251] |
Chr11:68033215 [GRCh38] Chr11:67800682 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_002496.4(NDUFS8):c.342C>A (p.Cys114Ter) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 2 [RCV005233252] |
Chr11:68033253 [GRCh38] Chr11:67800720 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_002496.4(NDUFS8):c.378C>T (p.Ile126=) |
single nucleotide variant |
not provided [RCV005132175] |
Chr11:68036258 [GRCh38] Chr11:67803725 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_002496.4(NDUFS8):c.548A>G (p.Tyr183Cys) |
single nucleotide variant |
not provided [RCV005151981] |
Chr11:68036508 [GRCh38] Chr11:67803975 [GRCh37] Chr11:11q13.2 |
uncertain significance |