NM_002488.5(NDUFA2):c.208+5G>A |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 13 [RCV000007945] |
Chr5:140647251 [GRCh38] Chr5:140026836 [GRCh37] Chr5:5q31.3 |
pathogenic |
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 |
copy number gain |
See cases [RCV000051193] |
Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2 |
pathogenic |
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 |
copy number loss |
See cases [RCV000052142] |
Chr5:138871137..145812309 [GRCh38] Chr5:138206826..145191872 [GRCh37] Chr5:138234725..145172065 [NCBI36] Chr5:5q31.2-32 |
pathogenic |
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 |
copy number loss |
See cases [RCV000053524] |
Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2 |
pathogenic |
NM_002488.5(NDUFA2):c.231C>T (p.Val77=) |
single nucleotide variant |
not provided [RCV000902487]|not specified [RCV000127108] |
Chr5:140645656 [GRCh38] Chr5:140025241 [GRCh37] Chr5:5q31.3 |
benign |
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001155276]|not provided [RCV000441489]|not specified [RCV000127109] |
Chr5:140647544 [GRCh38] Chr5:140027129 [GRCh37] Chr5:5q31.3 |
benign|likely benign|uncertain significance |
NM_002488.5(NDUFA2):c.129G>A (p.Glu43=) |
single nucleotide variant |
not provided [RCV000677060]|not specified [RCV000127110] |
Chr5:140647335 [GRCh38] Chr5:140026920 [GRCh37] Chr5:5q31.3 |
benign|likely benign |
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 |
copy number gain |
See cases [RCV000134725] |
Chr5:137836682..140696361 [GRCh38] Chr5:137172371..140075946 [GRCh37] Chr5:137200270..140056130 [NCBI36] Chr5:5q31.2-31.3 |
pathogenic |
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 |
copy number gain |
See cases [RCV000138808] |
Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2 |
pathogenic |
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 |
copy number gain |
See cases [RCV000142806] |
Chr5:138942857..144605017 [GRCh38] Chr5:138278546..143984580 [GRCh37] Chr5:138306445..143964773 [NCBI36] Chr5:5q31.2-31.3 |
uncertain significance |
NM_002488.4(NDUFA2):c.-50G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000263224]|not specified [RCV000612041] |
Chr5:140647633 [GRCh38] Chr5:140027218 [GRCh37] Chr5:5q31.3 |
likely benign|uncertain significance |
NM_002488.5(NDUFA2):c.177C>T (p.Ser59=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000259757] |
Chr5:140647287 [GRCh38] Chr5:140026872 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.134A>C (p.Lys45Thr) |
single nucleotide variant |
Cystic Leukoencephalopathy [RCV000516026]|Mitochondrial complex 1 deficiency, nuclear type 13 [RCV001256006] |
Chr5:140647330 [GRCh38] Chr5:140026915 [GRCh37] Chr5:5q31.3 |
pathogenic |
NM_002488.5(NDUFA2):c.225del (p.Asn76fs) |
deletion |
Cystic Leukoencephalopathy [RCV000515932]|Mitochondrial complex 1 deficiency, nuclear type 13 [RCV001256007]|not provided [RCV000514072] |
Chr5:140645662 [GRCh38] Chr5:140025247 [GRCh37] Chr5:5q31.3 |
pathogenic|uncertain significance |
NM_002488.4(NDUFA2):c.206A>G (p.Tyr69Cys) |
single nucleotide variant |
not specified [RCV000197043] |
Chr5:140647258 [GRCh38] Chr5:140026843 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.280G>A (p.Val94Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002515407]|not provided [RCV000198730] |
Chr5:140645607 [GRCh38] Chr5:140025192 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
NM_002488.4(NDUFA2):c.-63G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000276097] |
Chr5:140647646 [GRCh38] Chr5:140027231 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.4(NDUFA2):c.-136A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000333463]|not provided [RCV001653684] |
Chr5:140647719 [GRCh38] Chr5:140027304 [GRCh37] Chr5:5q31.3 |
benign|likely benign |
NM_002488.4(NDUFA2):c.-48A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000355665]|not provided [RCV001672651] |
Chr5:140647631 [GRCh38] Chr5:140027216 [GRCh37] Chr5:5q31.3 |
benign|likely benign |
NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000360340]|not provided [RCV002523509] |
Chr5:140647273 [GRCh38] Chr5:140026858 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.4(NDUFA2):c.-53A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000386841] |
Chr5:140647636 [GRCh38] Chr5:140027221 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.135G>A (p.Lys45=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000298528] |
Chr5:140647329 [GRCh38] Chr5:140026914 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.4(NDUFA2):c.-51C>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000329989] |
Chr5:140647634 [GRCh38] Chr5:140027219 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.4(NDUFA2):c.-145T>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000380861] |
Chr5:140647728 [GRCh38] Chr5:140027313 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NC_000005.9:g.(?_86400000)_(154000000_?)del |
deletion |
Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] |
Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2 |
pathogenic |
NM_002488.5(NDUFA2):c.199del (p.Ala67fs) |
deletion |
not specified [RCV000414604] |
Chr5:140647265 [GRCh38] Chr5:140026850 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 |
copy number gain |
See cases [RCV000449349] |
Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_002488.5(NDUFA2):c.102-11C>G |
single nucleotide variant |
not provided [RCV001720066] |
Chr5:140647373 [GRCh38] Chr5:140026958 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.30C>T (p.Val10=) |
single nucleotide variant |
not provided [RCV000909218]|not specified [RCV000443910] |
Chr5:140647554 [GRCh38] Chr5:140027139 [GRCh37] Chr5:5q31.3 |
likely benign |
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 |
copy number gain |
See cases [RCV000448245] |
Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_002488.5(NDUFA2):c.209-28T>C |
single nucleotide variant |
not specified [RCV000614927] |
Chr5:140645706 [GRCh38] Chr5:140025291 [GRCh37] Chr5:5q31.3 |
likely benign |
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 |
copy number loss |
not provided [RCV000682600] |
Chr5:139147238..141540491 [GRCh37] Chr5:5q31.2-31.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_002488.5(NDUFA2):c.209-333_209-332del |
deletion |
not provided [RCV001530683] |
Chr5:140646010..140646011 [GRCh38] Chr5:140025595..140025596 [GRCh37] Chr5:5q31.3 |
likely benign |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_002488.5(NDUFA2):c.209-355G>A |
single nucleotide variant |
not provided [RCV001581751] |
Chr5:140646033 [GRCh38] Chr5:140025618 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_006083.4(IK):c.-11A>T |
single nucleotide variant |
not provided [RCV001551439] |
Chr5:140647898 [GRCh38] Chr5:140027483 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.209-364C>T |
single nucleotide variant |
not provided [RCV001570337] |
Chr5:140646042 [GRCh38] Chr5:140025627 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_006083.4(IK):c.16+120_16+129del |
deletion |
not provided [RCV001608785] |
Chr5:140648041..140648050 [GRCh38] Chr5:140027626..140027635 [GRCh37] Chr5:5q31.3 |
benign |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
NM_002488.5(NDUFA2):c.168C>T (p.Arg56=) |
single nucleotide variant |
not provided [RCV000891939] |
Chr5:140647296 [GRCh38] Chr5:140026881 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.4(NDUFA2):c.-106delG |
deletion |
not provided [RCV000835232] |
Chr5:140647689 [GRCh38] Chr5:140027274 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.209-221C>T |
single nucleotide variant |
not provided [RCV000842831] |
Chr5:140645899 [GRCh38] Chr5:140025484 [GRCh37] Chr5:5q31.3 |
benign |
NM_002488.5(NDUFA2):c.208+314T>A |
single nucleotide variant |
not provided [RCV000829012] |
Chr5:140646942 [GRCh38] Chr5:140026527 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3 |
copy number gain |
not provided [RCV000846756] |
Chr5:139447779..140047037 [GRCh37] Chr5:5q31.2-31.3 |
uncertain significance |
NM_002488.4(NDUFA2):c.-114T>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001156939] |
Chr5:140647697 [GRCh38] Chr5:140027282 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NC_000005.9:g.(?_139930285)_(140078137_?)del |
deletion |
not provided [RCV003107704] |
Chr5:139930285..140078137 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_006083.4(IK):c.16+116_16+129del |
deletion |
not provided [RCV001560439] |
Chr5:140648037..140648050 [GRCh38] Chr5:140027622..140027635 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_006083.4(IK):c.16+84GT[15] |
microsatellite |
not provided [RCV001671066] |
Chr5:140648008..140648015 [GRCh38] Chr5:140027593..140027600 [GRCh37] Chr5:5q31.3 |
benign |
NM_006083.4(IK):c.16+84GT[20] |
microsatellite |
not provided [RCV001637131] |
Chr5:140648007..140648008 [GRCh38] Chr5:140027592..140027593 [GRCh37] Chr5:5q31.3 |
benign |
NM_002488.5(NDUFA2):c.28G>A (p.Val10Ile) |
single nucleotide variant |
not provided [RCV001569568] |
Chr5:140647556 [GRCh38] Chr5:140027141 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_006083.4(IK):c.16+84GT[18] |
microsatellite |
not provided [RCV001557039] |
Chr5:140648008..140648009 [GRCh38] Chr5:140027593..140027594 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_006083.4(IK):c.16+118_16+129del |
deletion |
not provided [RCV001656144] |
Chr5:140648039..140648050 [GRCh38] Chr5:140027624..140027635 [GRCh37] Chr5:5q31.3 |
benign |
NM_002488.5(NDUFA2):c.101+27G>A |
single nucleotide variant |
not provided [RCV001571903] |
Chr5:140647456 [GRCh38] Chr5:140027041 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_006083.4(IK):c.16+122A>G |
single nucleotide variant |
not provided [RCV001687738] |
Chr5:140648046 [GRCh38] Chr5:140027631 [GRCh37] Chr5:5q31.3 |
benign |
NM_002488.5(NDUFA2):c.150C>T (p.Asp50=) |
single nucleotide variant |
not provided [RCV000916918] |
Chr5:140647314 [GRCh38] Chr5:140026899 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.209-4T>C |
single nucleotide variant |
not provided [RCV000930089] |
Chr5:140645682 [GRCh38] Chr5:140025267 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.48G>A (p.Leu16=) |
single nucleotide variant |
not provided [RCV000935919] |
Chr5:140647536 [GRCh38] Chr5:140027121 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_006083.4(IK):c.16+122_16+123del |
deletion |
not provided [RCV001553130] |
Chr5:140648045..140648046 [GRCh38] Chr5:140027630..140027631 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_006083.4(IK):c.16+126A>G |
single nucleotide variant |
not provided [RCV001560105] |
Chr5:140648050 [GRCh38] Chr5:140027635 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_006083.4(IK):c.-46C>T |
single nucleotide variant |
not provided [RCV001571721] |
Chr5:140647863 [GRCh38] Chr5:140027448 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_006083.4(IK):c.16+84GT[21] |
microsatellite |
not provided [RCV001688474] |
Chr5:140648007..140648008 [GRCh38] Chr5:140027592..140027593 [GRCh37] Chr5:5q31.3 |
benign |
NM_006083.4(IK):c.16+126_16+133del |
microsatellite |
not provided [RCV001590378] |
Chr5:140648043..140648050 [GRCh38] Chr5:140027628..140027635 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001155277] |
Chr5:140647558 [GRCh38] Chr5:140027143 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.170A>C (p.Glu57Ala) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 13 [RCV001256008] |
Chr5:140647294 [GRCh38] Chr5:140026879 [GRCh37] Chr5:5q31.3 |
pathogenic |
NM_006083.4(IK):c.16+114_16+129del |
deletion |
not provided [RCV001536934] |
Chr5:140648035..140648050 [GRCh38] Chr5:140027620..140027635 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.31G>C (p.Gly11Arg) |
single nucleotide variant |
Leigh syndrome [RCV001335039]|not provided [RCV001337355] |
Chr5:140647553 [GRCh38] Chr5:140027138 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NC_000005.9:g.(?_136633338)_(140998481_?)dup |
duplication |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] |
Chr5:136633338..140998481 [GRCh37] Chr5:5q31.2-31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.208+18G>A |
single nucleotide variant |
not provided [RCV001713309] |
Chr5:140647238 [GRCh38] Chr5:140026823 [GRCh37] Chr5:5q31.3 |
benign |
NM_002488.5(NDUFA2):c.209-332del |
deletion |
not provided [RCV001654904] |
Chr5:140646010 [GRCh38] Chr5:140025595 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1 |
copy number loss |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202] |
Chr5:139493717..140517454 [GRCh37] Chr5:5q31.2-31.3 |
pathogenic |
NM_002488.5(NDUFA2):c.26G>C (p.Gly9Ala) |
single nucleotide variant |
not provided [RCV002009320] |
Chr5:140647558 [GRCh38] Chr5:140027143 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) |
copy number gain |
not specified [RCV002053526] |
Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
NM_002488.5(NDUFA2):c.294dup (p.Ala99fs) |
duplication |
not provided [RCV002010481] |
Chr5:140645592..140645593 [GRCh38] Chr5:140025177..140025178 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.201C>T (p.Ala67=) |
single nucleotide variant |
not provided [RCV002076394] |
Chr5:140647263 [GRCh38] Chr5:140026848 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.279C>T (p.Asn93=) |
single nucleotide variant |
not provided [RCV002176209] |
Chr5:140645608 [GRCh38] Chr5:140025193 [GRCh37] Chr5:5q31.3 |
likely benign |
NC_000005.9:g.(?_136957787)_(140078137_?)dup |
duplication |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] |
Chr5:136957787..140078137 [GRCh37] Chr5:5q31.2-31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.80C>G (p.Ser27Trp) |
single nucleotide variant |
not provided [RCV002995802] |
Chr5:140647504 [GRCh38] Chr5:140027089 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.155C>A (p.Pro52His) |
single nucleotide variant |
not provided [RCV002685627] |
Chr5:140647309 [GRCh38] Chr5:140026894 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.245T>G (p.Phe82Cys) |
single nucleotide variant |
not provided [RCV002617117] |
Chr5:140645642 [GRCh38] Chr5:140025227 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.253G>A (p.Asp85Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002728325] |
Chr5:140645634 [GRCh38] Chr5:140025219 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.102-14C>T |
single nucleotide variant |
not provided [RCV002740465] |
Chr5:140647376 [GRCh38] Chr5:140026961 [GRCh37] Chr5:5q31.3 |
benign |
NM_002488.5(NDUFA2):c.190A>G (p.Lys64Glu) |
single nucleotide variant |
not provided [RCV002999953] |
Chr5:140647274 [GRCh38] Chr5:140026859 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.209-19C>T |
single nucleotide variant |
not provided [RCV003019297] |
Chr5:140645697 [GRCh38] Chr5:140025282 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.55A>G (p.Ile19Val) |
single nucleotide variant |
not provided [RCV002662328] |
Chr5:140647529 [GRCh38] Chr5:140027114 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.273G>A (p.Leu91=) |
single nucleotide variant |
not provided [RCV002829001] |
Chr5:140645614 [GRCh38] Chr5:140025199 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.102-17TC[2] |
microsatellite |
not provided [RCV002953872] |
Chr5:140647374..140647375 [GRCh38] Chr5:140026959..140026960 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.101+12C>G |
single nucleotide variant |
not provided [RCV002834930] |
Chr5:140647471 [GRCh38] Chr5:140027056 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.209-14CT[4] |
microsatellite |
not provided [RCV002628350] |
Chr5:140645683..140645684 [GRCh38] Chr5:140025268..140025269 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002488.5(NDUFA2):c.209-15C>T |
single nucleotide variant |
not provided [RCV002589339] |
Chr5:140645693 [GRCh38] Chr5:140025278 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.176C>T (p.Ser59Phe) |
single nucleotide variant |
not provided [RCV003067523] |
Chr5:140647288 [GRCh38] Chr5:140026873 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.199G>T (p.Ala67Ser) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 13 [RCV003131700] |
Chr5:140647265 [GRCh38] Chr5:140026850 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.179A>C (p.Asp60Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003360064] |
Chr5:140647285 [GRCh38] Chr5:140026870 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.144T>A (p.Asn48Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003361935] |
Chr5:140647320 [GRCh38] Chr5:140026905 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.140C>T (p.Ala47Val) |
single nucleotide variant |
not provided [RCV003481773] |
Chr5:140647324 [GRCh38] Chr5:140026909 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002488.5(NDUFA2):c.9G>T (p.Ala3=) |
single nucleotide variant |
not provided [RCV003688114] |
Chr5:140647575 [GRCh38] Chr5:140027160 [GRCh37] Chr5:5q31.3 |
likely benign |