GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] |
Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
NM_030780.4(SLC25A32):c.155-745G>T |
single nucleotide variant |
Lung cancer [RCV000106752] |
Chr8:103408529 [GRCh38] Chr8:104420757 [GRCh37] Chr8:8q22.3 |
uncertain significance |
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 |
copy number gain |
See cases [RCV002292707] |
Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 |
copy number gain |
See cases [RCV000134353] |
Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 |
copy number loss |
See cases [RCV000134099] |
Chr8:101884819..107356143 [GRCh38] Chr8:102897047..108368371 [GRCh37] Chr8:102966223..108437547 [NCBI36] Chr8:8q22.3-23.1 |
pathogenic |
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 |
copy number gain |
See cases [RCV000135621] |
Chr8:86300584..137022587 [GRCh38] Chr8:87312813..138034830 [GRCh37] Chr8:87381929..138104012 [NCBI36] Chr8:8q21.3-24.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 |
copy number loss |
See cases [RCV000136812] |
Chr8:101199826..105802098 [GRCh38] Chr8:102212054..106814326 [GRCh37] Chr8:102281230..106883502 [NCBI36] Chr8:8q22.3-23.1 |
pathogenic |
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 |
copy number loss |
See cases [RCV000138134] |
Chr8:101171263..109127664 [GRCh38] Chr8:102183491..110139893 [GRCh37] Chr8:102252667..110209069 [NCBI36] Chr8:8q22.3-23.1 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 |
copy number gain |
See cases [RCV000138551] |
Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 |
copy number gain |
See cases [RCV000139036] |
Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 |
copy number gain |
See cases [RCV000140447] |
Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 |
copy number gain |
See cases [RCV000139539] |
Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 |
copy number gain |
See cases [RCV000141694] |
Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3 |
pathogenic |
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 |
copy number loss |
See cases [RCV000141697] |
Chr8:100179408..106524667 [GRCh38] Chr8:101191636..107536895 [GRCh37] Chr8:101260812..107606071 [NCBI36] Chr8:8q22.2-23.1 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 |
copy number gain |
See cases [RCV000142021] |
Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 |
copy number gain |
See cases [RCV000142810] |
Chr8:103306336..145068712 [GRCh38] Chr8:104318564..146294098 [GRCh37] Chr8:104387740..146264902 [NCBI36] Chr8:8q22.3-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 |
copy number gain |
See cases [RCV000142597] |
Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 |
copy number gain |
See cases [RCV000143659] |
Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3 |
pathogenic |
NM_030780.5(SLC25A32):c.548A>G (p.Tyr183Cys) |
single nucleotide variant |
Malignant tumor of prostate [RCV000206814]|not provided [RCV002517368] |
Chr8:103403168 [GRCh38] Chr8:104415396 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.440G>A (p.Arg147His) |
single nucleotide variant |
Exercise intolerance, riboflavin-responsive [RCV000208727]|not provided [RCV002515562]|not specified [RCV003488464] |
Chr8:103403276 [GRCh38] Chr8:104415504 [GRCh37] Chr8:8q22.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_030780.5(SLC25A32):c.425G>A (p.Trp142Ter) |
single nucleotide variant |
Exercise intolerance, riboflavin-responsive [RCV000208744]|not provided [RCV002517412] |
Chr8:103403291 [GRCh38] Chr8:104415519 [GRCh37] Chr8:8q22.3 |
pathogenic|uncertain significance |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 |
copy number gain |
not provided [RCV000848192] |
Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 |
copy number gain |
See cases [RCV000448954] |
Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 |
copy number gain |
See cases [RCV000511761] |
Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 |
copy number gain |
See cases [RCV000511002] |
Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 |
copy number gain |
See cases [RCV000510854] |
Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8q22.3(chr8:104221791-104770147)x3 |
copy number gain |
not provided [RCV000682982] |
Chr8:104221791..104770147 [GRCh37] Chr8:8q22.3 |
uncertain significance |
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 |
copy number gain |
not provided [RCV000683045] |
Chr8:86841154..116518125 [GRCh37] Chr8:8q21.2-23.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_030780.5(SLC25A32):c.392-106_392-105dup |
duplication |
not provided [RCV001541874] |
Chr8:103403409..103403410 [GRCh38] Chr8:104415637..104415638 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.*251G>T |
single nucleotide variant |
not provided [RCV001666084] |
Chr8:103400160 [GRCh38] Chr8:104412388 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.813-56G>A |
single nucleotide variant |
not provided [RCV001645150] |
Chr8:103400602 [GRCh38] Chr8:104412830 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.899A>G (p.Tyr300Cys) |
single nucleotide variant |
Exercise intolerance, riboflavin-responsive [RCV002489310]|SLC25A32-related disorder [RCV003978234]|not provided [RCV000952557] |
Chr8:103400460 [GRCh38] Chr8:103400460..103400461 [GRCh38] Chr8:104412688 [GRCh37] Chr8:104412688..104412689 [GRCh37] Chr8:8q22.3 |
benign|likely benign |
NM_030780.5(SLC25A32):c.695C>T (p.Ala232Val) |
single nucleotide variant |
not provided [RCV003777269]|not specified [RCV004332079] |
Chr8:103401633 [GRCh38] Chr8:104413861 [GRCh37] Chr8:8q22.3 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_030780.5(SLC25A32):c.813-161G>A |
single nucleotide variant |
not provided [RCV001608778] |
Chr8:103400707 [GRCh38] Chr8:104412935 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.552+274G>A |
single nucleotide variant |
not provided [RCV001664978] |
Chr8:103402890 [GRCh38] Chr8:104415118 [GRCh37] Chr8:8q22.3 |
benign |
NC_000008.10:g.(?_104412639)_(106815766_?)dup |
duplication |
not provided [RCV003107390] |
Chr8:104412639..106815766 [GRCh37] Chr8:8q22.3-23.1 |
uncertain significance |
NC_000008.11:g.103415350T>C |
single nucleotide variant |
not provided [RCV001660970] |
Chr8:103415350 [GRCh38] Chr8:104427578 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.812+10C>A |
single nucleotide variant |
SLC25A32-related disorder [RCV003921299]|not provided [RCV001652023] |
Chr8:103401506 [GRCh38] Chr8:104413734 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.154+214T>G |
single nucleotide variant |
not provided [RCV001657434] |
Chr8:103414570 [GRCh38] Chr8:104426798 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.391+171T>G |
single nucleotide variant |
not provided [RCV001693098] |
Chr8:103404605 [GRCh38] Chr8:104416833 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.392-106dup |
duplication |
not provided [RCV001656732] |
Chr8:103403409..103403410 [GRCh38] Chr8:104415637..104415638 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.391+170_391+171insG |
insertion |
not provided [RCV001674892] |
Chr8:103404605..103404606 [GRCh38] Chr8:104416833..104416834 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.155-280C>T |
single nucleotide variant |
not provided [RCV001636056] |
Chr8:103408064 [GRCh38] Chr8:104420292 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.350G>A (p.Arg117His) |
single nucleotide variant |
not provided [RCV001688595] |
Chr8:103404817 [GRCh38] Chr8:104417045 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.812+208_812+209insG |
insertion |
not provided [RCV001638789] |
Chr8:103401307..103401308 [GRCh38] Chr8:104413535..104413536 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.812+243G>A |
single nucleotide variant |
not provided [RCV001677581] |
Chr8:103401273 [GRCh38] Chr8:104413501 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.155-188A>T |
single nucleotide variant |
not provided [RCV001688767] |
Chr8:103407972 [GRCh38] Chr8:104420200 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.391+219G>A |
single nucleotide variant |
not provided [RCV001638246] |
Chr8:103404557 [GRCh38] Chr8:104416785 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.*122T>A |
single nucleotide variant |
not provided [RCV001716380] |
Chr8:103400289 [GRCh38] Chr8:104412517 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.*164del |
deletion |
not provided [RCV001649018] |
Chr8:103400247 [GRCh38] Chr8:104412475 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.155-97A>G |
single nucleotide variant |
not provided [RCV001710779] |
Chr8:103407881 [GRCh38] Chr8:104420109 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.155-88A>G |
single nucleotide variant |
not provided [RCV001696584] |
Chr8:103407872 [GRCh38] Chr8:104420100 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.154+104del |
deletion |
not provided [RCV001692959] |
Chr8:103414680 [GRCh38] Chr8:104426908 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.306-261T>C |
single nucleotide variant |
not provided [RCV001690794] |
Chr8:103405122 [GRCh38] Chr8:104417350 [GRCh37] Chr8:8q22.3 |
benign |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_030780.5(SLC25A32):c.*4C>T |
single nucleotide variant |
SLC25A32-related disorder [RCV003976163]|not provided [RCV001766087] |
Chr8:103400407 [GRCh38] Chr8:104412635 [GRCh37] Chr8:8q22.3 |
benign|likely benign |
NC_000008.11:g.103415313C>T |
single nucleotide variant |
not provided [RCV001695295] |
Chr8:103415313 [GRCh38] Chr8:104427541 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.553-311T>C |
single nucleotide variant |
not provided [RCV001674802] |
Chr8:103402365 [GRCh38] Chr8:104414593 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.553-56A>G |
single nucleotide variant |
not provided [RCV001695584] |
Chr8:103402110 [GRCh38] Chr8:104414338 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.391+203G>A |
single nucleotide variant |
not provided [RCV001688580] |
Chr8:103404573 [GRCh38] Chr8:104416801 [GRCh37] Chr8:8q22.3 |
benign |
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 |
copy number gain |
See cases [RCV002285066] |
Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
NM_030780.5(SLC25A32):c.392-91_392-86del |
deletion |
not provided [RCV001774857] |
Chr8:103403410..103403415 [GRCh38] Chr8:104415638..104415643 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.392-86del |
deletion |
not provided [RCV001752902] |
Chr8:103403410 [GRCh38] Chr8:104415638 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.392-88_392-86dup |
duplication |
not provided [RCV001758882] |
Chr8:103403409..103403410 [GRCh38] Chr8:104415637..104415638 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.481C>T (p.Arg161Ter) |
single nucleotide variant |
not provided [RCV001863478] |
Chr8:103403235 [GRCh38] Chr8:104415463 [GRCh37] Chr8:8q22.3 |
uncertain significance |
GRCh37/hg19 8q22.3(chr8:103969554-104480106)x3 |
copy number gain |
not specified [RCV002053790] |
Chr8:103969554..104480106 [GRCh37] Chr8:8q22.3 |
uncertain significance |
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) |
copy number gain |
not specified [RCV002053772] |
Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
NM_030780.5(SLC25A32):c.538C>T (p.Arg180Cys) |
single nucleotide variant |
not provided [RCV001910684] |
Chr8:103403178 [GRCh38] Chr8:104415406 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.331A>G (p.Thr111Ala) |
single nucleotide variant |
not provided [RCV002038700] |
Chr8:103404836 [GRCh38] Chr8:104417064 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.397A>G (p.Met133Val) |
single nucleotide variant |
not provided [RCV001972191] |
Chr8:103403319 [GRCh38] Chr8:104415547 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.35C>T (p.Ser12Leu) |
single nucleotide variant |
not provided [RCV001957761]|not specified [RCV004043022] |
Chr8:103414903 [GRCh38] Chr8:104427131 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NC_000008.10:g.(?_99135566)_(106815766_?)dup |
duplication |
Cohen syndrome [RCV001997398] |
Chr8:99135566..106815766 [GRCh37] Chr8:8q22.2-23.1 |
uncertain significance |
NM_030780.5(SLC25A32):c.682A>G (p.Ile228Val) |
single nucleotide variant |
not provided [RCV001875754] |
Chr8:103401646 [GRCh38] Chr8:104413874 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NC_000008.10:g.(?_103220361)_(104427165_?)dup |
duplication |
not provided [RCV001955352] |
Chr8:103220361..104427165 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.349C>T (p.Arg117Cys) |
single nucleotide variant |
not provided [RCV001866634]|not specified [RCV004867740] |
Chr8:103404818 [GRCh38] Chr8:104417046 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.156G>C (p.Val52=) |
single nucleotide variant |
not provided [RCV002169792] |
Chr8:103407783 [GRCh38] Chr8:104420011 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.693A>G (p.Ala231=) |
single nucleotide variant |
not provided [RCV002110866] |
Chr8:103401635 [GRCh38] Chr8:104413863 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.396C>T (p.Ala132=) |
single nucleotide variant |
not provided [RCV002168306] |
Chr8:103403320 [GRCh38] Chr8:104415548 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.813-11dup |
duplication |
not provided [RCV002174209] |
Chr8:103400556..103400557 [GRCh38] Chr8:104412784..104412785 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.742G>A (p.Val248Ile) |
single nucleotide variant |
not provided [RCV002135330] |
Chr8:103401586 [GRCh38] Chr8:104413814 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.826G>A (p.Gly276Ser) |
single nucleotide variant |
SLC25A32-related disorder [RCV003911193]|not provided [RCV002090126] |
Chr8:103400533 [GRCh38] Chr8:104412761 [GRCh37] Chr8:8q22.3 |
benign|likely benign |
NM_030780.5(SLC25A32):c.927C>T (p.Asp309=) |
single nucleotide variant |
not provided [RCV002076297] |
Chr8:103400432 [GRCh38] Chr8:104412660 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.812+20C>A |
single nucleotide variant |
not provided [RCV002132099] |
Chr8:103401496 [GRCh38] Chr8:104413724 [GRCh37] Chr8:8q22.3 |
benign|likely benign |
NM_030780.5(SLC25A32):c.553-7C>T |
single nucleotide variant |
not provided [RCV002094244] |
Chr8:103402061 [GRCh38] Chr8:104414289 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.154+7G>T |
single nucleotide variant |
not provided [RCV002217327] |
Chr8:103414777 [GRCh38] Chr8:104427005 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.180G>A (p.Pro60=) |
single nucleotide variant |
SLC25A32-related disorder [RCV003951269]|not provided [RCV002141115] |
Chr8:103407759 [GRCh38] Chr8:104419987 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.154+14C>A |
single nucleotide variant |
not provided [RCV002140207] |
Chr8:103414770 [GRCh38] Chr8:104426998 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.553-13C>A |
single nucleotide variant |
not provided [RCV002081240] |
Chr8:103402067 [GRCh38] Chr8:104414295 [GRCh37] Chr8:8q22.3 |
benign |
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) |
copy number gain |
not provided [RCV002221452] |
Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
NM_030780.5(SLC25A32):c.573T>G (p.Phe191Leu) |
single nucleotide variant |
not provided [RCV003110700]|not specified [RCV004857958] |
Chr8:103402034 [GRCh38] Chr8:104414262 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.306-4T>C |
single nucleotide variant |
not provided [RCV003114947] |
Chr8:103404865 [GRCh38] Chr8:104417093 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.155-4G>T |
single nucleotide variant |
not provided [RCV003115755] |
Chr8:103407788 [GRCh38] Chr8:104420016 [GRCh37] Chr8:8q22.3 |
likely benign |
NC_000008.10:g.(?_104416984)_(104417109_?)del |
deletion |
not provided [RCV003122776] |
Chr8:104416984..104417109 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NC_000008.10:g.(?_98358247)_(106815766_?)dup |
duplication |
not provided [RCV003122777] |
Chr8:98358247..106815766 [GRCh37] Chr8:8q22.1-23.1 |
uncertain significance |
NM_030780.4(SLC25A32):c.-189G>A |
single nucleotide variant |
not provided [RCV002285711] |
Chr8:103415126 [GRCh38] Chr8:104427354 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.306-78G>A |
single nucleotide variant |
not provided [RCV002286318] |
Chr8:103404939 [GRCh38] Chr8:104417167 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.155-158TA[6] |
microsatellite |
not provided [RCV002285603] |
Chr8:103407932..103407933 [GRCh38] Chr8:104420160..104420161 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.861T>G (p.Ile287Met) |
single nucleotide variant |
not specified [RCV004329827] |
Chr8:103400498 [GRCh38] Chr8:104412726 [GRCh37] Chr8:8q22.3 |
uncertain significance |
GRCh37/hg19 8q22.3(chr8:104370102-104770147)x1 |
copy number loss |
not provided [RCV002473859] |
Chr8:104370102..104770147 [GRCh37] Chr8:8q22.3 |
uncertain significance |
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 |
copy number gain |
not provided [RCV002474526] |
Chr8:79409349..119040631 [GRCh37] Chr8:8q21.12-24.11 |
pathogenic |
NM_030780.5(SLC25A32):c.537G>A (p.Val179=) |
single nucleotide variant |
not provided [RCV002614297] |
Chr8:103403179 [GRCh38] Chr8:104415407 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.209C>T (p.Thr70Ile) |
single nucleotide variant |
not specified [RCV004161630] |
Chr8:103407730 [GRCh38] Chr8:104419958 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.859A>G (p.Ile287Val) |
single nucleotide variant |
not provided [RCV002975274]|not specified [RCV004068191] |
Chr8:103400500 [GRCh38] Chr8:104412728 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.802A>G (p.Lys268Glu) |
single nucleotide variant |
not provided [RCV002775809] |
Chr8:103401526 [GRCh38] Chr8:104413754 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.285del (p.Trp96fs) |
deletion |
not provided [RCV002866113] |
Chr8:103407654 [GRCh38] Chr8:104419882 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.405C>T (p.Leu135=) |
single nucleotide variant |
not provided [RCV002862692] |
Chr8:103403311 [GRCh38] Chr8:104415539 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.553-11T>C |
single nucleotide variant |
not provided [RCV002686314] |
Chr8:103402065 [GRCh38] Chr8:104414293 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.154+7G>A |
single nucleotide variant |
not provided [RCV002994483] |
Chr8:103414777 [GRCh38] Chr8:104427005 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.539G>A (p.Arg180His) |
single nucleotide variant |
not provided [RCV002908850]|not specified [RCV004066163] |
Chr8:103403177 [GRCh38] Chr8:104415405 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.445A>C (p.Met149Leu) |
single nucleotide variant |
not provided [RCV002824993] |
Chr8:103403271 [GRCh38] Chr8:104415499 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.392-17T>C |
single nucleotide variant |
not provided [RCV002572164] |
Chr8:103403341 [GRCh38] Chr8:104415569 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.812+10C>T |
single nucleotide variant |
not provided [RCV002785723] |
Chr8:103401506 [GRCh38] Chr8:104413734 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.154+14C>T |
single nucleotide variant |
not provided [RCV002662816] |
Chr8:103414770 [GRCh38] Chr8:104426998 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.687T>C (p.Ser229=) |
single nucleotide variant |
not provided [RCV002591480] |
Chr8:103401641 [GRCh38] Chr8:104413869 [GRCh37] Chr8:8q22.3 |
likely benign|uncertain significance |
NM_030780.5(SLC25A32):c.578C>T (p.Thr193Ile) |
single nucleotide variant |
not provided [RCV002705465] |
Chr8:103402029 [GRCh38] Chr8:104414257 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.801A>G (p.Thr267=) |
single nucleotide variant |
not provided [RCV002638668] |
Chr8:103401527 [GRCh38] Chr8:104413755 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.60C>T (p.His20=) |
single nucleotide variant |
not provided [RCV003020419] |
Chr8:103414878 [GRCh38] Chr8:104427106 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.154+19A>T |
single nucleotide variant |
not provided [RCV003036378] |
Chr8:103414765 [GRCh38] Chr8:104426993 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.812+11G>A |
single nucleotide variant |
not provided [RCV002695047] |
Chr8:103401505 [GRCh38] Chr8:104413733 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.343G>A (p.Ala115Thr) |
single nucleotide variant |
not provided [RCV003018130] |
Chr8:103404824 [GRCh38] Chr8:104417052 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.357G>A (p.Glu119=) |
single nucleotide variant |
not provided [RCV002952681] |
Chr8:103404810 [GRCh38] Chr8:104417038 [GRCh37] Chr8:8q22.3 |
benign |
NM_030780.5(SLC25A32):c.488A>G (p.Tyr163Cys) |
single nucleotide variant |
not provided [RCV002886675]|not specified [RCV004066188] |
Chr8:103403228 [GRCh38] Chr8:104415456 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.187A>T (p.Asn63Tyr) |
single nucleotide variant |
not provided [RCV002570209]|not specified [RCV004064374] |
Chr8:103407752 [GRCh38] Chr8:104419980 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.462T>A (p.Ala154=) |
single nucleotide variant |
not provided [RCV003053630] |
Chr8:103403254 [GRCh38] Chr8:104415482 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.822C>T (p.Gly274=) |
single nucleotide variant |
SLC25A32-related disorder [RCV003961344]|not provided [RCV003001860] |
Chr8:103400537 [GRCh38] Chr8:104412765 [GRCh37] Chr8:8q22.3 |
likely benign|uncertain significance |
NM_030780.5(SLC25A32):c.211A>G (p.Thr71Ala) |
single nucleotide variant |
not provided [RCV002790548] |
Chr8:103407728 [GRCh38] Chr8:104419956 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.651A>G (p.Leu217=) |
single nucleotide variant |
not provided [RCV003059527] |
Chr8:103401956 [GRCh38] Chr8:104414184 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.823G>A (p.Val275Ile) |
single nucleotide variant |
not provided [RCV003005194] |
Chr8:103400536 [GRCh38] Chr8:104412764 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.445A>G (p.Met149Val) |
single nucleotide variant |
not provided [RCV002983058] |
Chr8:103403271 [GRCh38] Chr8:104415499 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.272G>A (p.Gly91Asp) |
single nucleotide variant |
not provided [RCV002666828] |
Chr8:103407667 [GRCh38] Chr8:104419895 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.116C>T (p.Ala39Val) |
single nucleotide variant |
not provided [RCV003111689]|not specified [RCV004134119] |
Chr8:103414822 [GRCh38] Chr8:104427050 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.914A>G (p.His305Arg) |
single nucleotide variant |
not provided [RCV002572973] |
Chr8:103400445 [GRCh38] Chr8:104412673 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.828_830del (p.Gly277del) |
deletion |
not provided [RCV002828513] |
Chr8:103400529..103400531 [GRCh38] Chr8:104412757..104412759 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.859A>T (p.Ile287Phe) |
single nucleotide variant |
not provided [RCV002701329]|not specified [RCV004067651] |
Chr8:103400500 [GRCh38] Chr8:104412728 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.723A>G (p.Ala241=) |
single nucleotide variant |
not provided [RCV002595715] |
Chr8:103401605 [GRCh38] Chr8:104413833 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.154+15A>G |
single nucleotide variant |
not provided [RCV002666588] |
Chr8:103414769 [GRCh38] Chr8:104426997 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.115G>T (p.Ala39Ser) |
single nucleotide variant |
not provided [RCV002599364] |
Chr8:103414823 [GRCh38] Chr8:104427051 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.666+6A>G |
single nucleotide variant |
not provided [RCV002721211] |
Chr8:103401935 [GRCh38] Chr8:104414163 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.236G>A (p.Arg79Gln) |
single nucleotide variant |
not provided [RCV002600662] |
Chr8:103407703 [GRCh38] Chr8:104419931 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.290G>A (p.Gly97Glu) |
single nucleotide variant |
not specified [RCV004156753] |
Chr8:103407649 [GRCh38] Chr8:104419877 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.581C>T (p.Ser194Leu) |
single nucleotide variant |
not provided [RCV002576975] |
Chr8:103402026 [GRCh38] Chr8:104414254 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.659C>T (p.Ala220Val) |
single nucleotide variant |
not specified [RCV004224079] |
Chr8:103401948 [GRCh38] Chr8:104414176 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.715G>A (p.Val239Ile) |
single nucleotide variant |
not provided [RCV002646601] |
Chr8:103401613 [GRCh38] Chr8:104413841 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.103T>G (p.Leu35Val) |
single nucleotide variant |
not provided [RCV005060921]|not specified [RCV004237888] |
Chr8:103414835 [GRCh38] Chr8:104427063 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.325T>C (p.Tyr109His) |
single nucleotide variant |
not provided [RCV002720084] |
Chr8:103404842 [GRCh38] Chr8:104417070 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.661C>G (p.Gln221Glu) |
single nucleotide variant |
not provided [RCV002811749] |
Chr8:103401946 [GRCh38] Chr8:104414174 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.546A>G (p.Leu182=) |
single nucleotide variant |
not provided [RCV002834830] |
Chr8:103403170 [GRCh38] Chr8:104415398 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.582G>A (p.Ser194=) |
single nucleotide variant |
not provided [RCV002635914] |
Chr8:103402025 [GRCh38] Chr8:104414253 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.7G>A (p.Gly3Ser) |
single nucleotide variant |
not provided [RCV002635007] |
Chr8:103414931 [GRCh38] Chr8:104427159 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.667-14T>C |
single nucleotide variant |
not provided [RCV002609926] |
Chr8:103401675 [GRCh38] Chr8:104413903 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.709T>C (p.Phe237Leu) |
single nucleotide variant |
SLC25A32-related disorder [RCV004758243]|not provided [RCV002943296]|not specified [RCV004068008] |
Chr8:103401619 [GRCh38] Chr8:104413847 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.718G>A (p.Ala240Thr) |
single nucleotide variant |
not provided [RCV003051266] |
Chr8:103401610 [GRCh38] Chr8:104413838 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.63C>G (p.Val21=) |
single nucleotide variant |
not provided [RCV002609006] |
Chr8:103414875 [GRCh38] Chr8:104427103 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.442C>G (p.Leu148Val) |
single nucleotide variant |
not provided [RCV002653237]|not specified [RCV004066674] |
Chr8:103403274 [GRCh38] Chr8:104415502 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.681T>C (p.Tyr227=) |
single nucleotide variant |
not provided [RCV002584227] |
Chr8:103401647 [GRCh38] Chr8:104413875 [GRCh37] Chr8:8q22.3 |
likely benign|uncertain significance |
NM_030780.5(SLC25A32):c.7GGCCAG[3] (p.Gln6_Ser7insGlyGln) |
microsatellite |
not provided [RCV002606309] |
Chr8:103414919..103414920 [GRCh38] Chr8:104427147..104427148 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.391+10T>C |
single nucleotide variant |
not provided [RCV002589362] |
Chr8:103404766 [GRCh38] Chr8:104416994 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.554G>A (p.Gly185Glu) |
single nucleotide variant |
not provided [RCV002590145] |
Chr8:103402053 [GRCh38] Chr8:104414281 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.421T>G (p.Leu141Val) |
single nucleotide variant |
not specified [RCV004275835] |
Chr8:103403295 [GRCh38] Chr8:104415523 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.64C>T (p.Arg22Trp) |
single nucleotide variant |
not provided [RCV003730437]|not specified [RCV004253565] |
Chr8:103414874 [GRCh38] Chr8:104427102 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.698T>C (p.Leu233Pro) |
single nucleotide variant |
not provided [RCV003561225]|not specified [RCV004261494] |
Chr8:103401630 [GRCh38] Chr8:104413858 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.62T>G (p.Val21Gly) |
single nucleotide variant |
not specified [RCV004362035] |
Chr8:103414876 [GRCh38] Chr8:104427104 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.236G>C (p.Arg79Pro) |
single nucleotide variant |
not specified [RCV004354237] |
Chr8:103407703 [GRCh38] Chr8:104419931 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.88G>T (p.Val30Leu) |
single nucleotide variant |
not provided [RCV003711899] |
Chr8:103414850 [GRCh38] Chr8:104427078 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.28G>A (p.Gly10Arg) |
single nucleotide variant |
not provided [RCV003663576] |
Chr8:103414910 [GRCh38] Chr8:104427138 [GRCh37] Chr8:8q22.3 |
uncertain significance |
GRCh37/hg19 8q22.3(chr8:104054189-105048015)x3 |
copy number gain |
not provided [RCV003484746] |
Chr8:104054189..105048015 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.154+2dup |
duplication |
not provided [RCV003684674] |
Chr8:103414781..103414782 [GRCh38] Chr8:104427009..104427010 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.155-1G>T |
single nucleotide variant |
not provided [RCV003570656] |
Chr8:103407785 [GRCh38] Chr8:104420013 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.97G>C (p.Gly33Arg) |
single nucleotide variant |
not provided [RCV003662857] |
Chr8:103414841 [GRCh38] Chr8:104427069 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.154+11_154+12insGG |
insertion |
not provided [RCV003702163] |
Chr8:103414772..103414773 [GRCh38] Chr8:104427000..104427001 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.235C>T (p.Arg79Trp) |
single nucleotide variant |
not provided [RCV003881038]|not specified [RCV004369674] |
Chr8:103407704 [GRCh38] Chr8:104419932 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.933A>G (p.Arg311=) |
single nucleotide variant |
not provided [RCV003544847] |
Chr8:103400426 [GRCh38] Chr8:104412654 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.148T>C (p.Phe50Leu) |
single nucleotide variant |
not provided [RCV003571611] |
Chr8:103414790 [GRCh38] Chr8:104427018 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.155-9T>C |
single nucleotide variant |
not provided [RCV003876227] |
Chr8:103407793 [GRCh38] Chr8:104420021 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.538C>G (p.Arg180Gly) |
single nucleotide variant |
not provided [RCV003739786]|not specified [RCV004673956] |
Chr8:103403178 [GRCh38] Chr8:104415406 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.306-7_306-3dup |
duplication |
not provided [RCV003739331] |
Chr8:103404863..103404864 [GRCh38] Chr8:104417091..104417092 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.812+16A>G |
single nucleotide variant |
not provided [RCV003827484] |
Chr8:103401500 [GRCh38] Chr8:104413728 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.297C>T (p.Tyr99=) |
single nucleotide variant |
not provided [RCV003716464] |
Chr8:103407642 [GRCh38] Chr8:104419870 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.306-19T>G |
single nucleotide variant |
not provided [RCV003713782] |
Chr8:103404880 [GRCh38] Chr8:104417108 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.392-1G>A |
single nucleotide variant |
not provided [RCV003702901] |
Chr8:103403325 [GRCh38] Chr8:104415553 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.20C>A (p.Ser7Ter) |
single nucleotide variant |
not provided [RCV003850463] |
Chr8:103414918 [GRCh38] Chr8:104427146 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.375C>T (p.Val125=) |
single nucleotide variant |
not provided [RCV003658967] |
Chr8:103404792 [GRCh38] Chr8:104417020 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.552+17A>G |
single nucleotide variant |
not provided [RCV003856619] |
Chr8:103403147 [GRCh38] Chr8:104415375 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.9C>T (p.Gly3=) |
single nucleotide variant |
not provided [RCV003840383] |
Chr8:103414929 [GRCh38] Chr8:104427157 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.187A>G (p.Asn63Asp) |
single nucleotide variant |
not provided [RCV003816546] |
Chr8:103407752 [GRCh38] Chr8:104419980 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.420A>G (p.Pro140=) |
single nucleotide variant |
not provided [RCV003703361] |
Chr8:103403296 [GRCh38] Chr8:104415524 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.912A>G (p.Ser304=) |
single nucleotide variant |
not provided [RCV003816851] |
Chr8:103400447 [GRCh38] Chr8:104412675 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.552+20T>G |
single nucleotide variant |
not provided [RCV003669702] |
Chr8:103403144 [GRCh38] Chr8:104415372 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.653C>G (p.Pro218Arg) |
single nucleotide variant |
not provided [RCV003673820] |
Chr8:103401954 [GRCh38] Chr8:104414182 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.407G>T (p.Cys136Phe) |
single nucleotide variant |
not provided [RCV003665674] |
Chr8:103403309 [GRCh38] Chr8:104415537 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.306-15A>G |
single nucleotide variant |
not provided [RCV003835951] |
Chr8:103404876 [GRCh38] Chr8:104417104 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.391+9A>G |
single nucleotide variant |
SLC25A32-related disorder [RCV003966661]|not provided [RCV003735846] |
Chr8:103404767 [GRCh38] Chr8:104416995 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.402C>G (p.Thr134=) |
single nucleotide variant |
not provided [RCV003863361] |
Chr8:103403314 [GRCh38] Chr8:104415542 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.685T>C (p.Ser229Pro) |
single nucleotide variant |
not provided [RCV003684003] |
Chr8:103401643 [GRCh38] Chr8:104413871 [GRCh37] Chr8:8q22.3 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not specified [RCV003986742] |
Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_030780.5(SLC25A32):c.645T>C (p.Asn215=) |
single nucleotide variant |
not provided [RCV003554751] |
Chr8:103401962 [GRCh38] Chr8:104414190 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.798_808dup (p.Trp270fs) |
duplication |
not provided [RCV003565891] |
Chr8:103401519..103401520 [GRCh38] Chr8:104413747..104413748 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.552+19A>G |
single nucleotide variant |
not provided [RCV003844255] |
Chr8:103403145 [GRCh38] Chr8:104415373 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.305+13G>C |
single nucleotide variant |
not provided [RCV003711374] |
Chr8:103407621 [GRCh38] Chr8:104419849 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.717C>T (p.Val239=) |
single nucleotide variant |
not provided [RCV003722050] |
Chr8:103401611 [GRCh38] Chr8:104413839 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.501T>G (p.Phe167Leu) |
single nucleotide variant |
not provided [RCV003844302] |
Chr8:103403215 [GRCh38] Chr8:104415443 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.902A>C (p.Glu301Ala) |
single nucleotide variant |
not provided [RCV003674732] |
Chr8:103400457 [GRCh38] Chr8:104412685 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.84G>A (p.Ala28=) |
single nucleotide variant |
not provided [RCV003858476] |
Chr8:103414854 [GRCh38] Chr8:104427082 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.506C>T (p.Thr169Ile) |
single nucleotide variant |
not provided [RCV003678465] |
Chr8:103403210 [GRCh38] Chr8:104415438 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.813-6C>G |
single nucleotide variant |
not provided [RCV003707627] |
Chr8:103400552 [GRCh38] Chr8:104412780 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.553-4G>A |
single nucleotide variant |
not provided [RCV003843977] |
Chr8:103402058 [GRCh38] Chr8:104414286 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.129C>T (p.Leu43=) |
single nucleotide variant |
SLC25A32-related disorder [RCV003923988] |
Chr8:103414809 [GRCh38] Chr8:104427037 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.472T>G (p.Ser158Ala) |
single nucleotide variant |
not specified [RCV004456504] |
Chr8:103403244 [GRCh38] Chr8:104415472 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.810G>C (p.Trp270Cys) |
single nucleotide variant |
not specified [RCV004456506] |
Chr8:103401518 [GRCh38] Chr8:104413746 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NC_000008.10:g.(?_104412639)_(104427165_?)del |
deletion |
not provided [RCV004583366] |
Chr8:104412639..104427165 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.105A>C (p.Leu35Phe) |
single nucleotide variant |
not provided [RCV005123696] |
Chr8:103414833 [GRCh38] Chr8:104427061 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.166T>A (p.Leu56Met) |
single nucleotide variant |
not provided [RCV005060653] |
Chr8:103407773 [GRCh38] Chr8:104420001 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.179C>T (p.Pro60Leu) |
single nucleotide variant |
not provided [RCV005067411] |
Chr8:103407760 [GRCh38] Chr8:104419988 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.-8_10del (p.Met1_Gln4del) |
deletion |
not provided [RCV005188534] |
Chr8:103414928..103414945 [GRCh38] Chr8:104427156..104427173 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV005188118] |
Chr8:103414937 [GRCh38] Chr8:104427165 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.337G>A (p.Gly113Arg) |
single nucleotide variant |
not provided [RCV005086939] |
Chr8:103404830 [GRCh38] Chr8:104417058 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.158G>A (p.Ser53Asn) |
single nucleotide variant |
not specified [RCV004867977] |
Chr8:103407781 [GRCh38] Chr8:104420009 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.666+6A>C |
single nucleotide variant |
not provided [RCV005085623] |
Chr8:103401935 [GRCh38] Chr8:104414163 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.121C>G (p.His41Asp) |
single nucleotide variant |
not provided [RCV005151477] |
Chr8:103414817 [GRCh38] Chr8:104427045 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.118C>T (p.Leu40=) |
single nucleotide variant |
not provided [RCV005063822] |
Chr8:103414820 [GRCh38] Chr8:104427048 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.150C>A (p.Phe50Leu) |
single nucleotide variant |
not provided [RCV005075725] |
Chr8:103414788 [GRCh38] Chr8:104427016 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.107C>G (p.Ser36Cys) |
single nucleotide variant |
not provided [RCV005162063] |
Chr8:103414831 [GRCh38] Chr8:104427059 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.15C>T (p.Gly5=) |
single nucleotide variant |
not provided [RCV005081531] |
Chr8:103414923 [GRCh38] Chr8:104427151 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.22G>A (p.Ala8Thr) |
single nucleotide variant |
not provided [RCV005166934] |
Chr8:103414916 [GRCh38] Chr8:104427144 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.677A>G (p.Glu226Gly) |
single nucleotide variant |
not provided [RCV005171015] |
Chr8:103401651 [GRCh38] Chr8:104413879 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.391+18A>G |
single nucleotide variant |
not provided [RCV005174736] |
Chr8:103404758 [GRCh38] Chr8:104416986 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.361A>G (p.Thr121Ala) |
single nucleotide variant |
not specified [RCV004867973] |
Chr8:103404806 [GRCh38] Chr8:104417034 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.403C>G (p.Leu135Val) |
single nucleotide variant |
not provided [RCV005061576]|not specified [RCV004867976] |
Chr8:103403313 [GRCh38] Chr8:104415541 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.751C>T (p.Arg251Cys) |
single nucleotide variant |
not specified [RCV004867975] |
Chr8:103401577 [GRCh38] Chr8:104413805 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.385G>A (p.Glu129Lys) |
single nucleotide variant |
not provided [RCV005139437] |
Chr8:103404782 [GRCh38] Chr8:104417010 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.333_336del (p.Gly113fs) |
deletion |
not provided [RCV005152317] |
Chr8:103404831..103404834 [GRCh38] Chr8:104417059..104417062 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.688G>C (p.Val230Leu) |
single nucleotide variant |
not provided [RCV005079461] |
Chr8:103401640 [GRCh38] Chr8:104413868 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.906C>T (p.Asn302=) |
single nucleotide variant |
not provided [RCV005200050] |
Chr8:103400453 [GRCh38] Chr8:104412681 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.895G>T (p.Val299Leu) |
single nucleotide variant |
not provided [RCV005115768] |
Chr8:103400464 [GRCh38] Chr8:104412692 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.567G>C (p.Gly189=) |
single nucleotide variant |
not provided [RCV005191853] |
Chr8:103402040 [GRCh38] Chr8:104414268 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.650del (p.Leu217fs) |
deletion |
not provided [RCV005116338] |
Chr8:103401957 [GRCh38] Chr8:104414185 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.787A>G (p.Ile263Val) |
single nucleotide variant |
not provided [RCV005142348] |
Chr8:103401541 [GRCh38] Chr8:104413769 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.769_770del (p.Met257fs) |
deletion |
not provided [RCV005144586] |
Chr8:103401558..103401559 [GRCh38] Chr8:104413786..104413787 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.552+15A>G |
single nucleotide variant |
not provided [RCV005069003] |
Chr8:103403149 [GRCh38] Chr8:104415377 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.202T>G (p.Cys68Gly) |
single nucleotide variant |
not provided [RCV005079596] |
Chr8:103407737 [GRCh38] Chr8:104419965 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.513G>A (p.Val171=) |
single nucleotide variant |
not provided [RCV005155087] |
Chr8:103403203 [GRCh38] Chr8:104415431 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.633C>T (p.Asn211=) |
single nucleotide variant |
not provided [RCV005069784] |
Chr8:103401974 [GRCh38] Chr8:104414202 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.460G>A (p.Ala154Thr) |
single nucleotide variant |
not provided [RCV005124248] |
Chr8:103403256 [GRCh38] Chr8:104415484 [GRCh37] Chr8:8q22.3 |
uncertain significance |
NM_030780.5(SLC25A32):c.513G>C (p.Val171=) |
single nucleotide variant |
not provided [RCV005072073] |
Chr8:103403203 [GRCh38] Chr8:104415431 [GRCh37] Chr8:8q22.3 |
likely benign |
NM_030780.5(SLC25A32):c.154+102A>G |
single nucleotide variant |
not provided [RCV001641133] |
Chr8:103414682 [GRCh38] Chr8:104426910 [GRCh37] Chr8:8q22.3 |
benign |
GRCh37/hg19 8q22.3(chr8:103950997-104487840)x3 |
copy number gain |
not provided [RCV000747746] |
Chr8:103950997..104487840 [GRCh37] Chr8:8q22.3 |
benign |