| NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 8 [RCV000006390]|Neurodevelopmental delay [RCV002273921] |
Chr11:47582140 [GRCh38]
Chr11:47603692 [GRCh37]
Chr11:11p11.2 |
pathogenic|likely pathogenic |
| NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 8 [RCV000006391]|not provided [RCV003555941] |
Chr11:47582436 [GRCh38]
Chr11:47603988 [GRCh37]
Chr11:11p11.2 |
pathogenic|likely pathogenic |
| GRCh38/hg38 11p11.2(chr11:47568261-47595569)x3 |
copy number gain |
See cases [RCV000134407] |
Chr11:47568261..47595569 [GRCh38]
Chr11:47589813..47617121 [GRCh37]
Chr11:47546389..47573697 [NCBI36]
Chr11:11p11.2 |
benign |
| GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 |
copy number gain |
See cases [RCV000139422] |
Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12 |
likely pathogenic |
| GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1 |
copy number loss |
See cases [RCV000051014] |
Chr11:46840454..48643003 [GRCh38]
Chr11:46862005..48664555 [GRCh37]
Chr11:46818581..48621131 [NCBI36]
Chr11:11p11.2 |
pathogenic |
| GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] |
Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2 |
pathogenic |
| NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) |
single nucleotide variant |
Leigh syndrome [RCV001107483]|Mitochondrial complex 1 deficiency, nuclear type 8 [RCV001000472]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001107482]|not provided [RCV000969794]|not specified [RCV000127155] |
Chr11:47582432 [GRCh38]
Chr11:47603984 [GRCh37]
Chr11:11p11.2 |
benign|likely benign|uncertain significance |
| NM_004551.3(NDUFS3):c.628-7C>T |
single nucleotide variant |
Leigh syndrome [RCV000292090]|Mitochondrial complex 1 deficiency, nuclear type 8 [RCV003114278]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000383892]|NDUFS3-related disorder [RCV004734666]|not provided [RCV000964320]|not specified [RCV000127156] |
Chr11:47584307 [GRCh38]
Chr11:47605859 [GRCh37]
Chr11:11p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 |
copy number loss |
See cases [RCV000135405] |
Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2 |
pathogenic |
| GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 |
copy number loss |
See cases [RCV000137391] |
Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12 |
pathogenic |
| NM_004551.3(NDUFS3):c.568_569del (p.Asp190fs) |
deletion |
not provided [RCV000200329] |
Chr11:47582408..47582409 [GRCh38]
Chr11:47603960..47603961 [GRCh37]
Chr11:11p11.2 |
pathogenic |
| NM_004551.3(NDUFS3):c.2T>G (p.Met1Arg) |
single nucleotide variant |
not provided [RCV000196482] |
Chr11:47579093 [GRCh38]
Chr11:47600645 [GRCh37]
Chr11:11p11.2 |
pathogenic|likely pathogenic |
| NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002515416]|Leigh syndrome [RCV000342182]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000403906]|not provided [RCV002517241] |
Chr11:47579280 [GRCh38]
Chr11:47600832 [GRCh37]
Chr11:11p11.2 |
likely benign|uncertain significance |
| NM_004551.3(NDUFS3):c.736C>T (p.Arg246Cys) |
single nucleotide variant |
NDUFS3-related disorder [RCV004536382]|not provided [RCV001904778] |
Chr11:47584422 [GRCh38]
Chr11:47605974 [GRCh37]
Chr11:11p11.2 |
likely pathogenic|likely benign|uncertain significance |
| NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) |
single nucleotide variant |
Leigh syndrome [RCV000331648]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000274500]|NDUFS3-related disorder [RCV004530169]|not provided [RCV000884571] |
Chr11:47582181 [GRCh38]
Chr11:47603733 [GRCh37]
Chr11:11p11.2 |
likely benign|uncertain significance |
| NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) |
single nucleotide variant |
Leigh syndrome [RCV001105707]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001105706]|not provided [RCV002515417]|not specified [RCV000200026] |
Chr11:47579324 [GRCh38]
Chr11:47600876 [GRCh37]
Chr11:11p11.2 |
pathogenic|benign|likely benign|uncertain significance |
| NM_004551.3(NDUFS3):c.669G>A (p.Pro223=) |
single nucleotide variant |
not provided [RCV000894611] |
Chr11:47584355 [GRCh38]
Chr11:47605907 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.628-23_628-7dup |
duplication |
not provided [RCV001697941] |
Chr11:47584285..47584286 [GRCh38]
Chr11:47605837..47605838 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) |
single nucleotide variant |
Leigh syndrome [RCV000284678]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000406732]|NDUFS3-related disorder [RCV004544516]|not provided [RCV000939941] |
Chr11:47584469 [GRCh38]
Chr11:47606021 [GRCh37]
Chr11:11p11.2 |
benign|likely benign|uncertain significance |
| NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) |
single nucleotide variant |
Leigh syndrome [RCV000358793]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000301677]|not provided [RCV003765795]|not specified [RCV000616791] |
Chr11:47579292 [GRCh38]
Chr11:47600844 [GRCh37]
Chr11:11p11.2 |
likely benign|uncertain significance |
| NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002520728]|Leigh syndrome [RCV000285816]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000342978] |
Chr11:47584439 [GRCh38]
Chr11:47605991 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.2(NDUFS3):c.-41T>C |
single nucleotide variant |
Leigh syndrome [RCV000290487]|Mitochondrial complex I deficiency [RCV000347926] |
Chr11:47579051 [GRCh38]
Chr11:47600603 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.2(NDUFS3):c.-30C>T |
single nucleotide variant |
Leigh syndrome [RCV000392871]|Mitochondrial complex I deficiency [RCV000308294] |
Chr11:47579062 [GRCh38]
Chr11:47600614 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.657G>A (p.Val219=) |
single nucleotide variant |
Leigh syndrome [RCV000325919]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000382544]|not provided [RCV002056209] |
Chr11:47584343 [GRCh38]
Chr11:47605895 [GRCh37]
Chr11:11p11.2 |
benign|uncertain significance |
| NM_004551.3(NDUFS3):c.381+5G>T |
single nucleotide variant |
Leigh syndrome [RCV000352949]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000261462] |
Chr11:47580989 [GRCh38]
Chr11:47602541 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) |
single nucleotide variant |
Leigh syndrome [RCV000261687]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000300392] |
Chr11:47580581 [GRCh38]
Chr11:47602133 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.424C>T (p.Arg142Cys) |
single nucleotide variant |
not provided [RCV000489564] |
Chr11:47582130 [GRCh38]
Chr11:47603682 [GRCh37]
Chr11:11p11.2 |
likely pathogenic|uncertain significance |
| NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met) |
single nucleotide variant |
Mitochondrial complex I deficiency [RCV000293525] |
Chr11:47580595 [GRCh38]
Chr11:47602147 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.127A>G (p.Thr43Ala) |
single nucleotide variant |
not provided [RCV000522121] |
Chr11:47579328 [GRCh38]
Chr11:47600880 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) |
single nucleotide variant |
Mitochondrial complex I deficiency [RCV000626206]|not provided [RCV002533151] |
Chr11:47582437 [GRCh38]
Chr11:47603989 [GRCh37]
Chr11:11p11.2 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 |
copy number gain |
See cases [RCV000448603] |
Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12 |
pathogenic |
| NM_004551.3(NDUFS3):c.694A>C (p.Lys232Gln) |
single nucleotide variant |
not provided [RCV000498968] |
Chr11:47584380 [GRCh38]
Chr11:47605932 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.269C>T (p.Pro90Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000624385] |
Chr11:47580872 [GRCh38]
Chr11:47602424 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.134-17A>C |
single nucleotide variant |
not specified [RCV000614835] |
Chr11:47580508 [GRCh38]
Chr11:47602060 [GRCh37]
Chr11:11p11.2 |
likely 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_004551.3(NDUFS3):c.21C>T (p.Ala7=) |
single nucleotide variant |
not provided [RCV000926088] |
Chr11:47579112 [GRCh38]
Chr11:47600664 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.65G>A (p.Arg22Lys) |
single nucleotide variant |
not provided [RCV000904288] |
Chr11:47579156 [GRCh38]
Chr11:47600708 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.1(NDUFS3):c.-292A>G |
single nucleotide variant |
not provided [RCV000843220] |
Chr11:47578800 [GRCh38]
Chr11:47600352 [GRCh37]
Chr11:11p11.2 |
benign |
| NM_004551.3(NDUFS3):c.133+176T>C |
single nucleotide variant |
not provided [RCV001568166] |
Chr11:47579510 [GRCh38]
Chr11:47601062 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NC_000011.10:g.47584696del |
deletion |
not provided [RCV001684651] |
Chr11:47584680 [GRCh38]
Chr11:47606232 [GRCh37]
Chr11:11p11.2 |
benign |
| NC_000011.10:g.47578886C>T |
single nucleotide variant |
not provided [RCV001636087] |
Chr11:47578886 [GRCh38]
Chr11:47600438 [GRCh37]
Chr11:11p11.2 |
benign |
| NM_004551.3(NDUFS3):c.*15T>C |
single nucleotide variant |
not provided [RCV001576718] |
Chr11:47584496 [GRCh38]
Chr11:47606048 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.768C>T (p.Ala256=) |
single nucleotide variant |
NDUFS3-related disorder [RCV004541923]|not provided [RCV000907453] |
Chr11:47584454 [GRCh38]
Chr11:47606006 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.381+189del |
deletion |
not provided [RCV001661178] |
Chr11:47581160 [GRCh38]
Chr11:47602712 [GRCh37]
Chr11:11p11.2 |
benign |
| NM_004551.3(NDUFS3):c.579C>T (p.Phe193=) |
single nucleotide variant |
not provided [RCV001553251] |
Chr11:47582420 [GRCh38]
Chr11:47603972 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NC_000011.10:g.47584696dup |
duplication |
not provided [RCV001594351] |
Chr11:47584679..47584680 [GRCh38]
Chr11:47606231..47606232 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NC_000011.10:g.47584604G>T |
single nucleotide variant |
not provided [RCV001592565] |
Chr11:47584604 [GRCh38]
Chr11:47606156 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.*39C>T |
single nucleotide variant |
Leigh syndrome [RCV001105800]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001105801] |
Chr11:47584520 [GRCh38]
Chr11:47606072 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NC_000011.10:g.47584754A>C |
single nucleotide variant |
not provided [RCV001545245] |
Chr11:47584754 [GRCh38]
Chr11:47606306 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) |
single nucleotide variant |
Leigh syndrome [RCV001103767]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001103766] |
Chr11:47579125 [GRCh38]
Chr11:47600677 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.*32G>A |
single nucleotide variant |
Leigh syndrome [RCV001103855]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001103856] |
Chr11:47584513 [GRCh38]
Chr11:47606065 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.-15C>G |
single nucleotide variant |
Leigh syndrome [RCV001103765]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001103764] |
Chr11:47579077 [GRCh38]
Chr11:47600629 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.134-100C>T |
single nucleotide variant |
not provided [RCV001663163] |
Chr11:47580425 [GRCh38]
Chr11:47601977 [GRCh37]
Chr11:11p11.2 |
benign |
| NC_000011.9:g.(?_45827353)_(47804770_?)dup |
duplication |
Leukocyte adhesion deficiency type II [RCV001296459] |
Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3 |
pathogenic |
| NM_004551.3(NDUFS3):c.538A>C (p.Asn180His) |
single nucleotide variant |
not provided [RCV001773792] |
Chr11:47582379 [GRCh38]
Chr11:47603931 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.653G>A (p.Arg218Gln) |
single nucleotide variant |
not provided [RCV001929556] |
Chr11:47584339 [GRCh38]
Chr11:47605891 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.185G>T (p.Gly62Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003355770]|not provided [RCV002043066] |
Chr11:47580576 [GRCh38]
Chr11:47602128 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.627+2T>C |
single nucleotide variant |
not provided [RCV001945293] |
Chr11:47582470 [GRCh38]
Chr11:47604022 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.67+4A>C |
single nucleotide variant |
not provided [RCV001887678] |
Chr11:47579162 [GRCh38]
Chr11:47600714 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NC_000011.9:g.(?_47603620)_(47606033_?)del |
deletion |
not provided [RCV001944197] |
Chr11:47603620..47606033 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.381+2T>C |
single nucleotide variant |
not provided [RCV001904877] |
Chr11:47580986 [GRCh38]
Chr11:47602538 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.766G>C (p.Ala256Pro) |
single nucleotide variant |
not provided [RCV002014946] |
Chr11:47584452 [GRCh38]
Chr11:47606004 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.746C>T (p.Pro249Leu) |
single nucleotide variant |
not provided [RCV001972166] |
Chr11:47584432 [GRCh38]
Chr11:47605984 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.675G>A (p.Glu225=) |
single nucleotide variant |
not provided [RCV002171178] |
Chr11:47584361 [GRCh38]
Chr11:47605913 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.232-9T>C |
single nucleotide variant |
not provided [RCV002093777] |
Chr11:47580826 [GRCh38]
Chr11:47602378 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.68-5T>C |
single nucleotide variant |
not provided [RCV002155569] |
Chr11:47579264 [GRCh38]
Chr11:47600816 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.712C>T (p.Pro238Ser) |
single nucleotide variant |
not provided [RCV002293798] |
Chr11:47584398 [GRCh38]
Chr11:47605950 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.347C>T (p.Ala116Val) |
single nucleotide variant |
not provided [RCV002293820] |
Chr11:47580950 [GRCh38]
Chr11:47602502 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25 |
pathogenic |
| NM_004551.3(NDUFS3):c.473_474del (p.Ser158fs) |
microsatellite |
Neurodevelopmental delay [RCV002274357] |
Chr11:47582176..47582177 [GRCh38]
Chr11:47603728..47603729 [GRCh37]
Chr11:11p11.2 |
pathogenic |
| NM_004551.3(NDUFS3):c.22A>G (p.Arg8Gly) |
single nucleotide variant |
not provided [RCV002467336] |
Chr11:47579113 [GRCh38]
Chr11:47600665 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.26T>C (p.Leu9Pro) |
single nucleotide variant |
not provided [RCV002839072] |
Chr11:47579117 [GRCh38]
Chr11:47600669 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.769G>A (p.Gly257Arg) |
single nucleotide variant |
not provided [RCV002731215] |
Chr11:47584455 [GRCh38]
Chr11:47606007 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.177A>C (p.Ser59=) |
single nucleotide variant |
not provided [RCV002880961] |
Chr11:47580568 [GRCh38]
Chr11:47602120 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.340T>G (p.Leu114Val) |
single nucleotide variant |
not provided [RCV002838976] |
Chr11:47580943 [GRCh38]
Chr11:47602495 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.381+4A>G |
single nucleotide variant |
not provided [RCV002994164] |
Chr11:47580988 [GRCh38]
Chr11:47602540 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.31T>C (p.Trp11Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002946445] |
Chr11:47579122 [GRCh38]
Chr11:47600674 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.166A>G (p.Lys56Glu) |
single nucleotide variant |
not provided [RCV002695953] |
Chr11:47580557 [GRCh38]
Chr11:47602109 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.133+12C>T |
single nucleotide variant |
not provided [RCV002570958] |
Chr11:47579346 [GRCh38]
Chr11:47600898 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.496T>C (p.Tyr166His) |
single nucleotide variant |
Inborn genetic diseases [RCV002784322]|not provided [RCV004779483] |
Chr11:47582202 [GRCh38]
Chr11:47603754 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.627+5G>A |
single nucleotide variant |
not provided [RCV003055108] |
Chr11:47582473 [GRCh38]
Chr11:47604025 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.722del (p.Ala241fs) |
deletion |
not provided [RCV002853486] |
Chr11:47584408 [GRCh38]
Chr11:47605960 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.782C>T (p.Pro261Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004958729]|not provided [RCV002745755] |
Chr11:47584468 [GRCh38]
Chr11:47606020 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.229C>A (p.Gln77Lys) |
single nucleotide variant |
not provided [RCV002675641] |
Chr11:47580620 [GRCh38]
Chr11:47602172 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.713C>T (p.Pro238Leu) |
single nucleotide variant |
not provided [RCV002632462] |
Chr11:47584399 [GRCh38]
Chr11:47605951 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.782C>A (p.Pro261His) |
single nucleotide variant |
not provided [RCV003047445] |
Chr11:47584468 [GRCh38]
Chr11:47606020 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.508-11C>G |
single nucleotide variant |
not provided [RCV003028034] |
Chr11:47582338 [GRCh38]
Chr11:47603890 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.81C>T (p.Pro27=) |
single nucleotide variant |
not provided [RCV002576983] |
Chr11:47579282 [GRCh38]
Chr11:47600834 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.255G>C (p.Glu85Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003087982]|not provided [RCV003087981] |
Chr11:47580858 [GRCh38]
Chr11:47602410 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.580G>A (p.Glu194Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002656933] |
Chr11:47582421 [GRCh38]
Chr11:47603973 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NC_000011.9:g.(47602537_47603639)_(47606115_?)dup |
duplication |
not specified [RCV004699682] |
Chr11:47603639..47606115 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.364C>T (p.Arg122Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003192211] |
Chr11:47580967 [GRCh38]
Chr11:47602519 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.373C>T (p.Arg125Cys) |
single nucleotide variant |
not provided [RCV003329038] |
Chr11:47580976 [GRCh38]
Chr11:47602528 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.492C>T (p.Asn164=) |
single nucleotide variant |
not provided [RCV003875674] |
Chr11:47582198 [GRCh38]
Chr11:47603750 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.68-9C>T |
single nucleotide variant |
not provided [RCV003715700] |
Chr11:47579260 [GRCh38]
Chr11:47600812 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.27G>A (p.Leu9=) |
single nucleotide variant |
not provided [RCV003549314] |
Chr11:47579118 [GRCh38]
Chr11:47600670 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.355G>A (p.Val119Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004636764]|not provided [RCV003548486] |
Chr11:47580958 [GRCh38]
Chr11:47602510 [GRCh37]
Chr11:11p11.2 |
likely benign|uncertain significance |
| NM_004551.3(NDUFS3):c.600A>G (p.Lys200=) |
single nucleotide variant |
not provided [RCV003861329] |
Chr11:47582441 [GRCh38]
Chr11:47603993 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.232-11C>G |
single nucleotide variant |
not provided [RCV003553326] |
Chr11:47580824 [GRCh38]
Chr11:47602376 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.126C>T (p.Asp42=) |
single nucleotide variant |
not provided [RCV003680449] |
Chr11:47579327 [GRCh38]
Chr11:47600879 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.413A>G (p.Asn138Ser) |
single nucleotide variant |
not provided [RCV004727404] |
Chr11:47582119 [GRCh38]
Chr11:47603671 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.232-12T>A |
single nucleotide variant |
not provided [RCV005088195] |
Chr11:47580823 [GRCh38]
Chr11:47602375 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.589C>G (p.Pro197Ala) |
single nucleotide variant |
not provided [RCV005227347] |
Chr11:47582430 [GRCh38]
Chr11:47603982 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.291G>A (p.Leu97=) |
single nucleotide variant |
not provided [RCV005128882] |
Chr11:47580894 [GRCh38]
Chr11:47602446 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.361A>G (p.Thr121Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004961494] |
Chr11:47580964 [GRCh38]
Chr11:47602516 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.99G>T (p.Pro33=) |
single nucleotide variant |
NDUFS3-related disorder [RCV004540082]|not provided [RCV000757549] |
Chr11:47579300 [GRCh38]
Chr11:47600852 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.381+6T>C |
single nucleotide variant |
Leigh syndrome [RCV000332963]|Mitochondrial complex 1 deficiency, nuclear type 8 [RCV001374465]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000389911]|not provided [RCV001859811] |
Chr11:47580990 [GRCh38]
Chr11:47602542 [GRCh37]
Chr11:11p11.2 |
pathogenic|uncertain significance |
| GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 |
copy number loss |
See cases [RCV000446383] |
Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2 |
pathogenic |
| NM_004551.3(NDUFS3):c.374G>A (p.Arg125His) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 8 [RCV001823140]|Mitochondrial complex I deficiency [RCV000853270]|not provided [RCV000479127] |
Chr11:47580977 [GRCh38]
Chr11:47602529 [GRCh37]
Chr11:11p11.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
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_004551.3(NDUFS3):c.678G>C (p.Leu226Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003269062] |
Chr11:47584364 [GRCh38]
Chr11:47605916 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.654G>T (p.Arg218=) |
single nucleotide variant |
not provided [RCV002063926]|not specified [RCV000615106] |
Chr11:47584340 [GRCh38]
Chr11:47605892 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV000623097]|Leigh syndrome [RCV001105708]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001105709]|not provided [RCV003767832] |
Chr11:47580540 [GRCh38]
Chr11:47602092 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) |
single nucleotide variant |
Leigh syndrome [RCV001103854]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001103853]|not provided [RCV002531615]|not specified [RCV000614898] |
Chr11:47584433 [GRCh38]
Chr11:47605985 [GRCh37]
Chr11:11p11.2 |
likely benign|uncertain significance |
| NM_004551.3(NDUFS3):c.401C>G (p.Ser134Cys) |
single nucleotide variant |
not provided [RCV000677082] |
Chr11:47582107 [GRCh38]
Chr11:47603659 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.134-28C>T |
single nucleotide variant |
not provided [RCV001568047] |
Chr11:47580497 [GRCh38]
Chr11:47602049 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.561C>T (p.Ile187=) |
single nucleotide variant |
not provided [RCV000891836] |
Chr11:47582402 [GRCh38]
Chr11:47603954 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.232-1G>A |
single nucleotide variant |
NDUFS3-related disorder [RCV000778328] |
Chr11:47580834 [GRCh38]
Chr11:47602386 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.418C>T (p.Arg140Trp) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 8 [RCV000790863]|not provided [RCV001557810] |
Chr11:47582124 [GRCh38]
Chr11:47603676 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.381+193C>T |
single nucleotide variant |
not provided [RCV000844532] |
Chr11:47581177 [GRCh38]
Chr11:47602729 [GRCh37]
Chr11:11p11.2 |
benign |
| NM_004551.3(NDUFS3):c.507+10C>T |
single nucleotide variant |
not provided [RCV003105098] |
Chr11:47582223 [GRCh38]
Chr11:47603775 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.381+189dup |
duplication |
not provided [RCV001671226] |
Chr11:47581159..47581160 [GRCh38]
Chr11:47602711..47602712 [GRCh37]
Chr11:11p11.2 |
benign |
| NM_004551.3(NDUFS3):c.507+62C>T |
single nucleotide variant |
not provided [RCV001569546] |
Chr11:47582275 [GRCh38]
Chr11:47603827 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) |
single nucleotide variant |
Leigh syndrome [RCV001106825]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001106824] |
Chr11:47582131 [GRCh38]
Chr11:47603683 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.737G>A (p.Arg246His) |
single nucleotide variant |
Leigh syndrome [RCV001107484]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001107485] |
Chr11:47584423 [GRCh38]
Chr11:47605975 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.246_247del (p.Asn82fs) |
deletion |
Leigh syndrome [RCV001332478] |
Chr11:47580849..47580850 [GRCh38]
Chr11:47602401..47602402 [GRCh37]
Chr11:11p11.2 |
pathogenic |
| NM_004551.3(NDUFS3):c.406C>T (p.Arg136Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002546565]|Mitochondrial complex 1 deficiency, nuclear type 8 [RCV001332479]|not provided [RCV002546566] |
Chr11:47582112 [GRCh38]
Chr11:47603664 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 8 [RCV001374464] |
Chr11:47582125 [GRCh38]
Chr11:47603677 [GRCh37]
Chr11:11p11.2 |
pathogenic|uncertain significance |
| NM_004551.3(NDUFS3):c.540C>A (p.Asn180Lys) |
single nucleotide variant |
not provided [RCV001755026] |
Chr11:47582381 [GRCh38]
Chr11:47603933 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.734A>G (p.Tyr245Cys) |
single nucleotide variant |
not provided [RCV001915430] |
Chr11:47584420 [GRCh38]
Chr11:47605972 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.277G>A (p.Val93Ile) |
single nucleotide variant |
not provided [RCV002028136] |
Chr11:47580880 [GRCh38]
Chr11:47602432 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.133+3_133+6del |
deletion |
Mitochondrial complex 1 deficiency, nuclear type 8 [RCV003147700]|not provided [RCV001918177] |
Chr11:47579335..47579338 [GRCh38]
Chr11:47600887..47600890 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.754C>T (p.Leu252Phe) |
single nucleotide variant |
not provided [RCV001977777] |
Chr11:47584440 [GRCh38]
Chr11:47605992 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.751_752dup (p.Ser251fs) |
microsatellite |
not provided [RCV002035902] |
Chr11:47584433..47584434 [GRCh38]
Chr11:47605985..47605986 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.642T>C (p.Asp214=) |
single nucleotide variant |
not provided [RCV002174357] |
Chr11:47584328 [GRCh38]
Chr11:47605880 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.231+9_231+12del |
microsatellite |
not provided [RCV002094190] |
Chr11:47580627..47580630 [GRCh38]
Chr11:47602179..47602182 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NC_000011.9:g.(?_45827353)_(47804770_?)del |
deletion |
Leukocyte adhesion deficiency type II [RCV003119908] |
Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2 |
pathogenic |
| GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 |
copy number gain |
See cases [RCV002286338] |
Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2 |
pathogenic |
| NM_004551.3(NDUFS3):c.640G>A (p.Asp214Asn) |
single nucleotide variant |
not provided [RCV002975364] |
Chr11:47584326 [GRCh38]
Chr11:47605878 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.631C>T (p.Arg211Cys) |
single nucleotide variant |
not provided [RCV002640644] |
Chr11:47584317 [GRCh38]
Chr11:47605869 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.505G>A (p.Glu169Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002694090] |
Chr11:47582211 [GRCh38]
Chr11:47603763 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.252A>T (p.Leu84Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003078747]|not provided [RCV003089674] |
Chr11:47580855 [GRCh38]
Chr11:47602407 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.742C>T (p.Pro248Ser) |
single nucleotide variant |
not provided [RCV003036564] |
Chr11:47584428 [GRCh38]
Chr11:47605980 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.22A>T (p.Arg8Trp) |
single nucleotide variant |
not provided [RCV002761343] |
Chr11:47579113 [GRCh38]
Chr11:47600665 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.3G>C (p.Met1Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002712332] |
Chr11:47579094 [GRCh38]
Chr11:47600646 [GRCh37]
Chr11:11p11.2 |
likely pathogenic |
| NM_004551.3(NDUFS3):c.621T>C (p.Tyr207=) |
single nucleotide variant |
not provided [RCV002875994] |
Chr11:47582462 [GRCh38]
Chr11:47604014 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.49dup (p.Ala17fs) |
duplication |
Inborn genetic diseases [RCV002788118] |
Chr11:47579135..47579136 [GRCh38]
Chr11:47600687..47600688 [GRCh37]
Chr11:11p11.2 |
pathogenic |
| NM_004551.3(NDUFS3):c.294T>C (p.Thr98=) |
single nucleotide variant |
not provided [RCV002957609] |
Chr11:47580897 [GRCh38]
Chr11:47602449 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.691del (p.Arg231fs) |
deletion |
not provided [RCV003042203] |
Chr11:47584376 [GRCh38]
Chr11:47605928 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.692G>A (p.Arg231His) |
single nucleotide variant |
Inborn genetic diseases [RCV002593783]|not provided [RCV002608301] |
Chr11:47584378 [GRCh38]
Chr11:47605930 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.231+9T>C |
single nucleotide variant |
not provided [RCV002650439] |
Chr11:47580631 [GRCh38]
Chr11:47602183 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.710G>T (p.Ser237Ile) |
single nucleotide variant |
not provided [RCV003026850] |
Chr11:47584396 [GRCh38]
Chr11:47605948 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.23G>A (p.Arg8Lys) |
single nucleotide variant |
not provided [RCV002721401] |
Chr11:47579114 [GRCh38]
Chr11:47600666 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.40A>C (p.Ile14Leu) |
single nucleotide variant |
not provided [RCV003052467] |
Chr11:47579131 [GRCh38]
Chr11:47600683 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.721G>A (p.Ala241Thr) |
single nucleotide variant |
not provided [RCV002608179] |
Chr11:47584407 [GRCh38]
Chr11:47605959 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.223C>T (p.Gln75Ter) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 8 [RCV003132864] |
Chr11:47580614 [GRCh38]
Chr11:47602166 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.382-1del |
deletion |
Mitochondrial complex 1 deficiency, nuclear type 8 [RCV003140471] |
Chr11:47582087 [GRCh38]
Chr11:47603639 [GRCh37]
Chr11:11p11.2 |
likely pathogenic |
| NM_004551.3(NDUFS3):c.39G>T (p.Gly13=) |
single nucleotide variant |
not provided [RCV003222722] |
Chr11:47579130 [GRCh38]
Chr11:47600682 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.37G>A (p.Gly13Arg) |
single nucleotide variant |
not provided [RCV003324894] |
Chr11:47579128 [GRCh38]
Chr11:47600680 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.368A>C (p.Gln123Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003362275] |
Chr11:47580971 [GRCh38]
Chr11:47602523 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.297C>A (p.Phe99Leu) |
single nucleotide variant |
not provided [RCV003390050] |
Chr11:47580900 [GRCh38]
Chr11:47602452 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.381+20_381+22del |
deletion |
not provided [RCV003831637] |
Chr11:47581002..47581004 [GRCh38]
Chr11:47602554..47602556 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.507+11G>A |
single nucleotide variant |
not provided [RCV003836159] |
Chr11:47582224 [GRCh38]
Chr11:47603776 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.732C>T (p.Val244=) |
single nucleotide variant |
NDUFS3-related disorder [RCV004540736]|not provided [RCV003682068] |
Chr11:47584418 [GRCh38]
Chr11:47605970 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.18A>G (p.Val6=) |
single nucleotide variant |
not provided [RCV003728773] |
Chr11:47579109 [GRCh38]
Chr11:47600661 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.668C>T (p.Pro223Leu) |
single nucleotide variant |
not provided [RCV003557594] |
Chr11:47584354 [GRCh38]
Chr11:47605906 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.719A>G (p.Glu240Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004480225] |
Chr11:47584405 [GRCh38]
Chr11:47605957 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.118G>A (p.Gly40Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004480173] |
Chr11:47579319 [GRCh38]
Chr11:47600871 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.25C>G (p.Leu9Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004480186] |
Chr11:47579116 [GRCh38]
Chr11:47600668 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.49G>A (p.Ala17Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004480204] |
Chr11:47579140 [GRCh38]
Chr11:47600692 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.760C>G (p.Leu254Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004641428] |
Chr11:47584446 [GRCh38]
Chr11:47605998 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
| NM_004551.3(NDUFS3):c.133+17A>C |
single nucleotide variant |
not specified [RCV004699877] |
Chr11:47579351 [GRCh38]
Chr11:47600903 [GRCh37]
Chr11:11p11.2 |
likely benign |
| NM_004551.3(NDUFS3):c.68G>C (p.Gly23Ala) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 8 [RCV005050233] |
Chr11:47579269 [GRCh38]
Chr11:47600821 [GRCh37]
Chr11:11p11.2 |
uncertain significance |
