| NM_021830.5(TWNK):c.1014G>C (p.Gln338His) |
single nucleotide variant |
not provided [RCV000521964] |
Chr10:100989224 [GRCh38]
Chr10:102748981 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1054_1092dup (p.His364_Lys365insLeuSerArgIleLeuArgThrAlaLeuProAlaTrpHis) |
duplication |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004879] |
Chr10:100989263..100989264 [GRCh38]
Chr10:102749020..102749021 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1535A>C (p.His512Pro) |
single nucleotide variant |
not provided [RCV000727647] |
Chr10:100990486 [GRCh38]
Chr10:102750243 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1084G>C (p.Ala362Pro) |
single nucleotide variant |
not specified [RCV000516974] |
Chr10:100989294 [GRCh38]
Chr10:102749051 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1022G>A (p.Arg341His) |
single nucleotide variant |
not provided [RCV000519610] |
Chr10:100989232 [GRCh38]
Chr10:102748989 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004880] |
Chr10:100989823 [GRCh38]
Chr10:102749580 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) |
single nucleotide variant |
Mitochondrial disease [RCV000508874]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004881]|not provided [RCV002512779] |
Chr10:100989285 [GRCh38]
Chr10:102749042 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV002496262]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004882] |
Chr10:100989822 [GRCh38]
Chr10:102749579 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.944G>T (p.Trp315Leu) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004883] |
Chr10:100989154 [GRCh38]
Chr10:102748911 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004884] |
Chr10:100989271 [GRCh38]
Chr10:102749028 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) |
single nucleotide variant |
Mitochondrial disease [RCV000508905]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004885] |
Chr10:100989352 [GRCh38]
Chr10:102749109 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV001542762]|Mitochondrial disease [RCV000508769]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV002288465]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic [RCV000004886]|not provided [RCV001093424] |
Chr10:100989211 [GRCh38]
Chr10:102748968 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004887] |
Chr10:100989316 [GRCh38]
Chr10:102749073 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004888]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000020867] |
Chr10:100989165 [GRCh38]
Chr10:102748922 [GRCh37]
Chr10:10q24.31 |
pathogenic|not provided |
| NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000004889] |
Chr10:100989770 [GRCh38]
Chr10:102749527 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004891]|not provided [RCV001289123] |
Chr10:100989118 [GRCh38]
Chr10:102748875 [GRCh37]
Chr10:10q24.31 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000004892]|not provided [RCV000523637] |
Chr10:100989330 [GRCh38]
Chr10:102749087 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.1287C>T (p.Ala429=) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000020863] |
Chr10:100989687 [GRCh38]
Chr10:102749444 [GRCh37]
Chr10:10q24.31 |
pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000020865]|not provided [RCV000199894] |
Chr10:100990474 [GRCh38]
Chr10:102750231 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000020866]|See cases [RCV002251876] |
Chr10:100989162 [GRCh38]
Chr10:102748919 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000050139]|TWNK-related disorder [RCV004537236]|not provided [RCV000415948] |
Chr10:100989766 [GRCh38]
Chr10:102749523 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000050140]|not provided [RCV003137593] |
Chr10:100989787 [GRCh38]
Chr10:102749544 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000050141]|not provided [RCV000419446] |
Chr10:100988457 [GRCh38]
Chr10:102748214 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 |
copy number gain |
See cases [RCV000050747] |
Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3 |
pathogenic |
| GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 |
copy number loss |
See cases [RCV000052565] |
Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32 |
pathogenic |
| GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] |
Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3 |
pathogenic |
| GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 |
copy number gain |
See cases [RCV000053564] |
Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3 |
pathogenic |
| NM_021830.5(TWNK):c.1954C>T (p.Pro652Ser) |
single nucleotide variant |
not provided [RCV003553933]|not specified [RCV003404771] |
Chr10:100993409 [GRCh38]
Chr10:102753166 [GRCh37]
Chr10:102743156 [NCBI36]
Chr10:10q24.31 |
uncertain significance|not provided |
| NM_021830.5(TWNK):c.639C>T (p.Gly213=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000395926]|Hereditary spastic paraplegia [RCV001847741]|Infantile onset spinocerebellar ataxia [RCV000305599]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000301625]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000359159]|not provided [RCV000676300]|not specified [RCV000173516] |
Chr10:100988849 [GRCh38]
Chr10:102748606 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001104761]|Hereditary spastic paraplegia [RCV001847742]|Infantile onset spinocerebellar ataxia [RCV001104760]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000390596]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001104762]|not provided [RCV000676301]|not specified [RCV000173517] |
Chr10:100989312 [GRCh38]
Chr10:102749069 [GRCh37]
Chr10:10q24.31 |
benign |
| NM_021830.5(TWNK):c.1593-5C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000328346]|Infantile onset spinocerebellar ataxia [RCV000273221]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000386399]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000331870]|not provided [RCV000676302]|not specified [RCV000124041] |
Chr10:100990864 [GRCh38]
Chr10:102750621 [GRCh37]
Chr10:10q24.31 |
benign |
| NM_021830.5(TWNK):c.1593-3T>C |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000343097]|Infantile onset spinocerebellar ataxia [RCV000382498]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000379002]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000288050]|not provided [RCV000676303]|not specified [RCV000124042] |
Chr10:100990866 [GRCh38]
Chr10:102750623 [GRCh37]
Chr10:10q24.31 |
benign |
| NM_021830.5(TWNK):c.1734+16C>A |
single nucleotide variant |
not provided [RCV001520131]|not specified [RCV000124043] |
Chr10:100991026 [GRCh38]
Chr10:102750783 [GRCh37]
Chr10:10q24.31 |
benign |
| NM_021830.5(TWNK):c.1734+17G>A |
single nucleotide variant |
TWNK-related disorder [RCV004530073]|not provided [RCV002512521]|not specified [RCV000124044] |
Chr10:100991027 [GRCh38]
Chr10:102750784 [GRCh37]
Chr10:10q24.31 |
benign|likely benign |
| NM_021830.5(TWNK):c.-605G>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000361730]|Infantile onset spinocerebellar ataxia [RCV000304511]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000269417]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000326884]|not provided [RCV004717994]|not specified [RCV000124045] |
Chr10:100987606 [GRCh38]
Chr10:100987606..100987607 [GRCh38]
Chr10:102747363 [GRCh37]
Chr10:102747363..102747364 [GRCh37]
Chr10:10q24.31 |
benign |
| NM_021830.5(TWNK):c.1735-14C>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000396649]|Infantile onset spinocerebellar ataxia [RCV000314586]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000369307]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000335702]|not provided [RCV002055436]|not specified [RCV000124046] |
Chr10:100993176 [GRCh38]
Chr10:102752933 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.1592+5C>T |
single nucleotide variant |
not provided [RCV001764901] |
Chr10:100990548 [GRCh38]
Chr10:102750305 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1172G>A (p.Arg391His) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000345001]|Infantile onset spinocerebellar ataxia [RCV000290037]|Perrault syndrome 5 [RCV000149470]|Perrault syndrome [RCV002516006]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000305281]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000403533]|not provided [RCV002516005] |
Chr10:100989382 [GRCh38]
Chr10:102749139 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) |
single nucleotide variant |
Perrault syndrome 5 [RCV000149472]|Perrault syndrome [RCV002516007]|not provided [RCV003556197] |
Chr10:100989721 [GRCh38]
Chr10:102749478 [GRCh37]
Chr10:10q24.31 |
pathogenic|not provided |
| NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) |
single nucleotide variant |
Perrault syndrome 5 [RCV000149471]|Perrault syndrome [RCV002514865]|not provided [RCV003556196] |
Chr10:100993209 [GRCh38]
Chr10:102752966 [GRCh37]
Chr10:10q24.31 |
pathogenic|not provided |
| NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) |
single nucleotide variant |
Perrault syndrome 5 [RCV000149473]|Perrault syndrome [RCV002514866]|not provided [RCV000521090]|not specified [RCV003479021] |
Chr10:100990470 [GRCh38]
Chr10:102750227 [GRCh37]
Chr10:10q24.31 |
pathogenic|uncertain significance|not provided |
| GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 |
copy number gain |
See cases [RCV000137747] |
Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3 |
pathogenic |
| NM_021830.5(TWNK):c.1827C>A (p.Arg609=) |
single nucleotide variant |
not provided [RCV000178980] |
Chr10:100993282 [GRCh38]
Chr10:102753039 [GRCh37]
Chr10:10q24.31 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.1021C>T (p.Arg341Cys) |
single nucleotide variant |
not provided [RCV001722089] |
Chr10:100989231 [GRCh38]
Chr10:102748988 [GRCh37]
Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000322888]|Infantile onset spinocerebellar ataxia [RCV000326494]|Infantile onset spinocerebellar ataxia [RCV001838991]|Perrault syndrome 5 [RCV004558440]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000267823]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000381173]|not provided [RCV000712523] |
Chr10:100993430 [GRCh38]
Chr10:102753187 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.434C>T (p.Ala145Val) |
single nucleotide variant |
not provided [RCV002261005]|not specified [RCV000196536] |
Chr10:100988644 [GRCh38]
Chr10:102748401 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.2015C>G (p.Pro672Arg) |
single nucleotide variant |
not provided [RCV001853170] |
Chr10:100993470 [GRCh38]
Chr10:102753227 [GRCh37]
Chr10:10q24.31 |
likely benign|uncertain significance |
| NM_021830.5(TWNK):c.340A>T (p.Met114Leu) |
single nucleotide variant |
not provided [RCV005090008]|not specified [RCV000200862] |
Chr10:100988550 [GRCh38]
Chr10:102748307 [GRCh37]
Chr10:10q24.31 |
likely benign|uncertain significance |
| NM_021830.5(TWNK):c.1112G>A (p.Arg371Gln) |
single nucleotide variant |
not provided [RCV000197393] |
Chr10:100989322 [GRCh38]
Chr10:102749079 [GRCh37]
Chr10:10q24.31 |
likely benign|uncertain significance |
| NM_021830.5(TWNK):c.611T>G (p.Leu204Arg) |
single nucleotide variant |
not provided [RCV005074792] |
Chr10:100988821 [GRCh38]
Chr10:102748578 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1306G>A (p.Gly436Arg) |
single nucleotide variant |
not provided [RCV005200829] |
Chr10:100989706 [GRCh38]
Chr10:102749463 [GRCh37]
Chr10:10q24.31 |
pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.737A>G (p.Asn246Ser) |
single nucleotide variant |
Perrault syndrome 5 [RCV000855770]|not provided [RCV000727648] |
Chr10:100988947 [GRCh38]
Chr10:102748704 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.1462_1463del (p.Phe488fs) |
deletion |
not provided [RCV000198764] |
Chr10:100989861..100989862 [GRCh38]
Chr10:102749618..102749619 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.967C>T (p.Arg323Ter) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV004579540]|not provided [RCV000198844] |
Chr10:100989177 [GRCh38]
Chr10:102748934 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000402465]|Infantile onset spinocerebellar ataxia [RCV000300073]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000339690]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000284653]|TWNK-related disorder [RCV004530166]|not provided [RCV000909034]|not specified [RCV000199218] |
Chr10:100990973 [GRCh38]
Chr10:102750730 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.338G>C (p.Cys113Ser) |
single nucleotide variant |
not provided [RCV000195756] |
Chr10:100988548 [GRCh38]
Chr10:102748305 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.1110C>G (p.Phe370Leu) |
single nucleotide variant |
not provided [RCV000195885] |
Chr10:100989320 [GRCh38]
Chr10:102749077 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.2045G>A (p.Arg682His) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000374204]|Hereditary spastic paraplegia [RCV001847877]|Infantile onset spinocerebellar ataxia [RCV000377740]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000338208]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000283282]|TWNK-related disorder [RCV004530167]|not provided [RCV000871398] |
Chr10:100993500 [GRCh38]
Chr10:102753257 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001105895]|Infantile onset spinocerebellar ataxia [RCV000578276]|Perrault syndrome [RCV002515383]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001105894]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001105893]|not provided [RCV001722090] |
Chr10:100989406 [GRCh38]
Chr10:102749163 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_021830.5(TWNK):c.1229T>G (p.Leu410Arg) |
single nucleotide variant |
not provided [RCV000196072] |
Chr10:100989439 [GRCh38]
Chr10:102749196 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1510G>A (p.Ala504Thr) |
single nucleotide variant |
not provided [RCV000712522] |
Chr10:100990461 [GRCh38]
Chr10:102750218 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.1537G>C (p.Val513Leu) |
single nucleotide variant |
not provided [RCV000196225] |
Chr10:100990488 [GRCh38]
Chr10:102750245 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.384C>T (p.Ser128=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000386725]|Hereditary spastic paraplegia [RCV001848047]|Infantile onset spinocerebellar ataxia [RCV000294722]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000351895]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000347919]|not provided [RCV000336672] |
Chr10:100988594 [GRCh38]
Chr10:102748351 [GRCh37]
Chr10:10q24.31 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) |
single nucleotide variant |
Ataxia Neuropathy Spectrum Disorders [RCV000352301]|Autosomal recessive cerebellar ataxia [RCV000406261]|Hereditary spastic paraplegia [RCV001848044]|Inborn genetic diseases [RCV004021053]|Infantile onset spinocerebellar ataxia [RCV001336025]|Mitochondrial DNA depletion syndrome [RCV000312773]|Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000278667]|not provided [RCV001722382] |
Chr10:100993505 [GRCh38]
Chr10:102753262 [GRCh37]
Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 10q24.31(chr10:102747410-102754099)x3 |
copy number gain |
See cases [RCV000240365] |
Chr10:102747410..102754099 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000239858]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV003989505]|not provided [RCV001762457]|not specified [RCV003317155] |
Chr10:100989114 [GRCh38]
Chr10:102748871 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.333del (p.Leu112fs) |
deletion |
Infantile onset spinocerebellar ataxia [RCV000240394] |
Chr10:100988541 [GRCh38]
Chr10:102748298 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1488T>C (p.Thr496=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000395193]|Infantile onset spinocerebellar ataxia [RCV000359896]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000356457]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000301666]|TWNK-related disorder [RCV004544498]|not provided [RCV003105861] |
Chr10:100990439 [GRCh38]
Chr10:102750196 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.*709C>G |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000268971]|Infantile onset spinocerebellar ataxia [RCV000326378]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000365927]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000308995] |
Chr10:100994219 [GRCh38]
Chr10:102753976 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*766A>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000346808]|Infantile onset spinocerebellar ataxia [RCV000312968]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000406316]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000352677]|not provided [RCV004718186] |
Chr10:100994276 [GRCh38]
Chr10:102754033 [GRCh37]
Chr10:10q24.31 |
benign |
| NM_021830.5(TWNK):c.922T>C (p.Leu308=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000327796]|Infantile onset spinocerebellar ataxia [RCV000366062]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000270402]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000362650]|not provided [RCV000872826] |
Chr10:100989132 [GRCh38]
Chr10:102748889 [GRCh37]
Chr10:10q24.31 |
likely benign|uncertain significance |
| NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000296339]|Inborn genetic diseases [RCV004021460]|Infantile onset spinocerebellar ataxia [RCV000388304]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000273839]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000331424]|not provided [RCV000994494] |
Chr10:100989252 [GRCh38]
Chr10:102749009 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.*521C>G |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000384190]|Infantile onset spinocerebellar ataxia [RCV000380788]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000326146]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000289850]|not provided [RCV001618516] |
Chr10:100994031 [GRCh38]
Chr10:102753788 [GRCh37]
Chr10:10q24.31 |
benign |
| NM_021830.5(TWNK):c.*204G>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000404345]|Hereditary spastic paraplegia [RCV001848071]|Infantile onset spinocerebellar ataxia [RCV000348968]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000363555]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000308919]|not provided [RCV001582924] |
Chr10:100993714 [GRCh38]
Chr10:102753471 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.*472GA[2] |
microsatellite |
Ataxia Neuropathy Spectrum Disorders [RCV000274766]|Autosomal recessive cerebellar ataxia [RCV000369355]|Mitochondrial DNA depletion syndrome [RCV000333328]|Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000329810] |
Chr10:100993981..100993982 [GRCh38]
Chr10:102753738..102753739 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.*419A>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000390735]|Infantile onset spinocerebellar ataxia [RCV000289702]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000293240]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000348190] |
Chr10:100993929 [GRCh38]
Chr10:102753686 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000311980]|Infantile onset spinocerebellar ataxia [RCV000398995]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000350458]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000406517]|not provided [RCV001515622] |
Chr10:100988286 [GRCh38]
Chr10:102748043 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.1527C>T (p.Asp509=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000371309]|Infantile onset spinocerebellar ataxia [RCV000316663]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000261430]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000276601]|not provided [RCV002059512] |
Chr10:100990478 [GRCh38]
Chr10:102750235 [GRCh37]
Chr10:10q24.31 |
benign|likely benign |
| NM_021830.5(TWNK):c.*455C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000356122]|Infantile onset spinocerebellar ataxia [RCV000301336]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000395043]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000261316]|not provided [RCV002222482] |
Chr10:100993965 [GRCh38]
Chr10:102753722 [GRCh37]
Chr10:10q24.31 |
benign|likely benign |
| NM_021830.5(TWNK):c.77G>T (p.Gly26Val) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000353789]|Infantile onset spinocerebellar ataxia [RCV000300245]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000261511]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000315587]|not provided [RCV003114470] |
Chr10:100988287 [GRCh38]
Chr10:102748044 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*301C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000320279]|Infantile onset spinocerebellar ataxia [RCV000356361]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000261655]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000316885] |
Chr10:100993811 [GRCh38]
Chr10:102753568 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.-650A>G |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000336415]|Infantile onset spinocerebellar ataxia [RCV000278960]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000403866]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000351651]|not provided [RCV002292507] |
Chr10:100987561 [GRCh38]
Chr10:102747318 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.-241C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000263602]|Infantile onset spinocerebellar ataxia [RCV000321122]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000378134]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000285273]|not provided [RCV001574648] |
Chr10:100987970 [GRCh38]
Chr10:102747727 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.492C>T (p.Leu164=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000405350]|Infantile onset spinocerebellar ataxia [RCV000336716]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000279300]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000395922]|not provided [RCV002262948] |
Chr10:100988702 [GRCh38]
Chr10:102748459 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.*367A>G |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000296618]|Infantile onset spinocerebellar ataxia [RCV000387305]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000372445]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000332854] |
Chr10:100993877 [GRCh38]
Chr10:102753634 [GRCh37]
Chr10:10q24.31 |
likely benign|uncertain significance |
| NM_021830.5(TWNK):c.1101C>T (p.Ile367=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000281131]|Hereditary spastic paraplegia [RCV001848070]|Infantile onset spinocerebellar ataxia [RCV000316283]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000373330]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000338588]|not provided [RCV002059511] |
Chr10:100989311 [GRCh38]
Chr10:102749068 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.-290G>C |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000317524]|Infantile onset spinocerebellar ataxia [RCV000260000]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000370858]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000374562] |
Chr10:100987921 [GRCh38]
Chr10:102747678 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000365721]|Infantile onset spinocerebellar ataxia [RCV000271132]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000274568]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000310922]|not provided [RCV000429667] |
Chr10:100993308 [GRCh38]
Chr10:102753065 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.-585T>G |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000365196]|Infantile onset spinocerebellar ataxia [RCV000386809]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000272503]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000329943] |
Chr10:100987626 [GRCh38]
Chr10:102747383 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*555G>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000391253]|Infantile onset spinocerebellar ataxia [RCV000283055]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000341627]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000286655] |
Chr10:100994065 [GRCh38]
Chr10:102753822 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.-470G>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000336669]|Infantile onset spinocerebellar ataxia [RCV000402685]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000340655]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000283163] |
Chr10:100987741 [GRCh38]
Chr10:102747498 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*619G>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000368599]|Infantile onset spinocerebellar ataxia [RCV000274954]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000313885]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000393194] |
Chr10:100994129 [GRCh38]
Chr10:102753886 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.-306GT[1] |
microsatellite |
Ataxia Neuropathy Spectrum Disorders [RCV000275226]|Autosomal recessive cerebellar ataxia [RCV000313818]|Mitochondrial DNA depletion syndrome [RCV000367436]|Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000309025]|not provided [RCV001753758] |
Chr10:100987904..100987905 [GRCh38]
Chr10:102747661..102747662 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.241C>G (p.Leu81Val) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001107965]|Hereditary spastic paraplegia [RCV001848043]|Infantile onset spinocerebellar ataxia [RCV001107963]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001102728]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001107964]|not provided [RCV000320273] |
Chr10:100988451 [GRCh38]
Chr10:102748208 [GRCh37]
Chr10:10q24.31 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) |
single nucleotide variant |
Ataxia Neuropathy Spectrum Disorders [RCV000378949]|Autosomal recessive cerebellar ataxia [RCV000322115]|Mitochondrial DNA depletion syndrome [RCV000264619]|Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000357427] |
Chr10:100988484 [GRCh38]
Chr10:102748241 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*234T>G |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000359977]|Infantile onset spinocerebellar ataxia [RCV000268894]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000305371]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000265383] |
Chr10:100993744 [GRCh38]
Chr10:102753501 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*803A>G |
single nucleotide variant |
Ataxia Neuropathy Spectrum Disorders [RCV000364410]|Autosomal recessive cerebellar ataxia [RCV000267467]|Mitochondrial DNA depletion syndrome [RCV000307286]|Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000405295] |
Chr10:100994313 [GRCh38]
Chr10:102754070 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*747C>G |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000378586]|Infantile onset spinocerebellar ataxia [RCV000267652]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000377431]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000320500] |
Chr10:100994257 [GRCh38]
Chr10:102754014 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.-549G>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000333249]|Infantile onset spinocerebellar ataxia [RCV000371493]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000294636]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000279219] |
Chr10:100987662 [GRCh38]
Chr10:102747419 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*763T>C |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000279376]|Infantile onset spinocerebellar ataxia [RCV000337820]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000280396]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000371492] |
Chr10:100994273 [GRCh38]
Chr10:102754030 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.861G>A (p.Thr287=) |
single nucleotide variant |
not provided [RCV000266945] |
Chr10:100989071 [GRCh38]
Chr10:102748828 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.276C>T (p.Gly92=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000268162]|Infantile onset spinocerebellar ataxia [RCV000290618]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000382577]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000325677] |
Chr10:100988486 [GRCh38]
Chr10:102748243 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3 |
pathogenic |
| NM_021830.5(TWNK):c.1435G>A (p.Glu479Lys) |
single nucleotide variant |
not provided [RCV000489376] |
Chr10:100989835 [GRCh38]
Chr10:102749592 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001107308]|Infantile onset spinocerebellar ataxia [RCV001107307]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001107309]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001107306]|not provided [RCV000489778] |
Chr10:100988266 [GRCh38]
Chr10:102748023 [GRCh37]
Chr10:10q24.31 |
likely benign|uncertain significance |
| NM_021830.5(TWNK):c.1768C>T (p.Gln590Ter) |
single nucleotide variant |
not provided [RCV000488219] |
Chr10:100993223 [GRCh38]
Chr10:102752980 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1147A>G (p.Asn383Asp) |
single nucleotide variant |
not provided [RCV000490052] |
Chr10:100989357 [GRCh38]
Chr10:102749114 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*438G>C |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000402616]|Infantile onset spinocerebellar ataxia [RCV000344200]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000304560]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000359366] |
Chr10:100993948 [GRCh38]
Chr10:102753705 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.-423C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000394946]|Infantile onset spinocerebellar ataxia [RCV000394944]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000343931]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000305401] |
Chr10:100987788 [GRCh38]
Chr10:102747545 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*574C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000338309]|Infantile onset spinocerebellar ataxia [RCV000404064]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000298569]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000353400] |
Chr10:100994084 [GRCh38]
Chr10:102753841 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.-105T>C |
single nucleotide variant |
Ataxia Neuropathy Spectrum Disorders [RCV000342541]|Autosomal recessive cerebellar ataxia [RCV000380816]|Mitochondrial DNA depletion syndrome [RCV000288718]|Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000345897] |
Chr10:100988106 [GRCh38]
Chr10:102747863 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.-644A>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV000395716]|Infantile onset spinocerebellar ataxia [RCV000301087]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000358190]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV000395735] |
Chr10:100987567 [GRCh38]
Chr10:102747324 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 |
copy number gain |
See cases [RCV000446733] |
Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3 |
pathogenic |
| NM_021830.5(TWNK):c.116G>A (p.Arg39His) |
single nucleotide variant |
not provided [RCV000427539] |
Chr10:100988326 [GRCh38]
Chr10:102748083 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1414G>A (p.Asp472Asn) |
single nucleotide variant |
not provided [RCV000421084] |
Chr10:100989814 [GRCh38]
Chr10:102749571 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.30C>T (p.Pro10=) |
single nucleotide variant |
not specified [RCV000442113] |
Chr10:100988240 [GRCh38]
Chr10:102747997 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.801T>G (p.Leu267=) |
single nucleotide variant |
not provided [RCV002522552]|not specified [RCV000421330] |
Chr10:100989011 [GRCh38]
Chr10:102748768 [GRCh37]
Chr10:10q24.31 |
benign|likely benign |
| GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] |
Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1 |
pathogenic|drug response |
| NM_021830.5(TWNK):c.1593-6G>A |
single nucleotide variant |
not specified [RCV000432103] |
Chr10:100990863 [GRCh38]
Chr10:102750620 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.638G>T (p.Gly213Val) |
single nucleotide variant |
not provided [RCV000429304] |
Chr10:100988848 [GRCh38]
Chr10:102748605 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.799C>G (p.Leu267Val) |
single nucleotide variant |
not provided [RCV002521619]|not specified [RCV000422363] |
Chr10:100989009 [GRCh38]
Chr10:102748766 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1338C>T (p.Ile446=) |
single nucleotide variant |
not provided [RCV002522613]|not specified [RCV000426085] |
Chr10:100989738 [GRCh38]
Chr10:102749495 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1713G>A (p.Ala571=) |
single nucleotide variant |
TWNK-related disorder [RCV004532990]|not provided [RCV002526325]|not specified [RCV000440487] |
Chr10:100990989 [GRCh38]
Chr10:102750746 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001105998]|Hereditary spastic paraplegia [RCV001848766]|Infantile onset spinocerebellar ataxia [RCV001106000]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001105997]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001105999]|TWNK-related disorder [RCV004533016]|not provided [RCV000726623]|not specified [RCV003993959] |
Chr10:100990885 [GRCh38]
Chr10:102750642 [GRCh37]
Chr10:10q24.31 |
benign|uncertain significance |
| GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| NM_021830.5(TWNK):c.198dup (p.His67fs) |
duplication |
not provided [RCV000484985] |
Chr10:100988403..100988404 [GRCh38]
Chr10:102748160..102748161 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1357C>T (p.Arg453Trp) |
single nucleotide variant |
not provided [RCV000487273] |
Chr10:100989757 [GRCh38]
Chr10:102749514 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1364T>C (p.Met455Thr) |
single nucleotide variant |
not provided [RCV000498931] |
Chr10:100989764 [GRCh38]
Chr10:102749521 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) |
single nucleotide variant |
Mitochondrial disease [RCV000508711]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001332412]|not provided [RCV000497430] |
Chr10:100989213 [GRCh38]
Chr10:102748970 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_021830.5(TWNK):c.1183T>C (p.Phe395Leu) |
single nucleotide variant |
not provided [RCV000497360] |
Chr10:100989393 [GRCh38]
Chr10:102749150 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_021830.5(TWNK):c.1033G>T (p.Ala345Ser) |
single nucleotide variant |
not provided [RCV000497881] |
Chr10:100989243 [GRCh38]
Chr10:102749000 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1374G>T (p.Gln458His) |
single nucleotide variant |
Mitochondrial disease [RCV000508722]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV004787794] |
Chr10:100989774 [GRCh38]
Chr10:102749531 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1052A>G (p.Asn351Ser) |
single nucleotide variant |
not provided [RCV001553334] |
Chr10:100989262 [GRCh38]
Chr10:102749019 [GRCh37]
Chr10:10q24.31 |
pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.1391T>C (p.Leu464Pro) |
single nucleotide variant |
Mitochondrial disease [RCV000508820] |
Chr10:100989791 [GRCh38]
Chr10:102749548 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) |
single nucleotide variant |
Mitochondrial disease [RCV000508920]|Progressive external ophthalmoplegia [RCV000626956]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV004689760]|not provided [RCV000517894] |
Chr10:100989331 [GRCh38]
Chr10:102749088 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
| GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 |
copy number gain |
See cases [RCV000510972] |
Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3 |
pathogenic |
| GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| NM_021830.5(TWNK):c.1244-14C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001108147]|Infantile onset spinocerebellar ataxia [RCV001108145]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001108144]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001108146]|not provided [RCV005056278]|not specified [RCV000616455] |
Chr10:100989630 [GRCh38]
Chr10:102749387 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.252dup (p.Ala85fs) |
duplication |
TWNK-related disorder [RCV003314226] |
Chr10:100988459..100988460 [GRCh38]
Chr10:102748216..102748217 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.879C>T (p.Ala293=) |
single nucleotide variant |
not specified [RCV000608418] |
Chr10:100989089 [GRCh38]
Chr10:102748846 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1381G>A (p.Glu461Lys) |
single nucleotide variant |
not provided [RCV000513096] |
Chr10:100989781 [GRCh38]
Chr10:102749538 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3 |
drug response |
| NM_021830.5(TWNK):c.198G>A (p.Gly66=) |
single nucleotide variant |
not provided [RCV002528708]|not specified [RCV000606945] |
Chr10:100988408 [GRCh38]
Chr10:102748165 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1712C>T (p.Ala571Val) |
single nucleotide variant |
not provided [RCV000658220] |
Chr10:100990988 [GRCh38]
Chr10:102750745 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.874C>A (p.Pro292Thr) |
single nucleotide variant |
Perrault syndrome 5 [RCV000677240]|not provided [RCV002530362] |
Chr10:100989084 [GRCh38]
Chr10:102748841 [GRCh37]
Chr10:10q24.31 |
pathogenic|uncertain significance |
| GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 |
copy number gain |
not provided [RCV000683291] |
Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3 |
pathogenic |
| NM_021830.5(TWNK):c.1440C>T (p.Asp480=) |
single nucleotide variant |
not provided [RCV000712521] |
Chr10:100989840 [GRCh38]
Chr10:102749597 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| NM_021830.5(TWNK):c.169G>A (p.Ala57Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004039961]|not provided [RCV001703272] |
Chr10:100988379 [GRCh38]
Chr10:102748136 [GRCh37]
Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.385G>A (p.Val129Met) |
single nucleotide variant |
not provided [RCV001565369] |
Chr10:100988595 [GRCh38]
Chr10:102748352 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.853C>T (p.Arg285Ter) |
single nucleotide variant |
not provided [RCV000760488] |
Chr10:100989063 [GRCh38]
Chr10:102748820 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000855727]|Mitochondrial disease [RCV003389251]|Perrault syndrome 5 [RCV003446489]|Perrault syndrome [RCV002538880]|TWNK-related disorder [RCV004538170]|not provided [RCV001869311] |
Chr10:100989003 [GRCh38]
Chr10:102748760 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|uncertain significance|not provided |
| NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000855763]|not provided [RCV001759642] |
Chr10:100990904 [GRCh38]
Chr10:102750661 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000855765] |
Chr10:100989714 [GRCh38]
Chr10:102749471 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.574C>T (p.Arg192Cys) |
single nucleotide variant |
mitochondrial hepatopathy [RCV000855766] |
Chr10:100988784 [GRCh38]
Chr10:102748541 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.49del (p.Leu17fs) |
deletion |
Infantile onset spinocerebellar ataxia [RCV000855767] |
Chr10:100988256 [GRCh38]
Chr10:102748013 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 [RCV000855769]|not provided [RCV002536207] |
Chr10:100989822 [GRCh38]
Chr10:102749579 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1596C>T (p.Ile532=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847114]|not provided [RCV000925778] |
Chr10:100990872 [GRCh38]
Chr10:102750629 [GRCh37]
Chr10:10q24.31 |
benign|likely benign |
| NM_021830.5(TWNK):c.1656T>C (p.His552=) |
single nucleotide variant |
not provided [RCV000921186] |
Chr10:100990932 [GRCh38]
Chr10:102750689 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1827C>T (p.Arg609=) |
single nucleotide variant |
not provided [RCV000922704] |
Chr10:100993282 [GRCh38]
Chr10:102753039 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV000779014]|not provided [RCV003222127] |
Chr10:100989280 [GRCh38]
Chr10:102749037 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000855762] |
Chr10:100989409 [GRCh38]
Chr10:102749166 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1962T>A (p.Ser654=) |
single nucleotide variant |
not provided [RCV000953633] |
Chr10:100993417 [GRCh38]
Chr10:102753174 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.699C>T (p.Tyr233=) |
single nucleotide variant |
TWNK-related disorder [RCV004543447]|not provided [RCV000918325] |
Chr10:100988909 [GRCh38]
Chr10:102748666 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1272C>G (p.Phe424Leu) |
single nucleotide variant |
mitochondrial hepatopathy [RCV000855764]|not provided [RCV003679023] |
Chr10:100989672 [GRCh38]
Chr10:102749429 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.1232C>T (p.Thr411Met) |
single nucleotide variant |
mitochondrial hepatopathy [RCV000855768] |
Chr10:100989442 [GRCh38]
Chr10:102749199 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1735-202G>A |
single nucleotide variant |
not provided [RCV000837729] |
Chr10:100992988 [GRCh38]
Chr10:102752745 [GRCh37]
Chr10:10q24.31 |
benign |
| NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV000790907] |
Chr10:100989841 [GRCh38]
Chr10:102749598 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1485-259_1485-254del |
deletion |
not provided [RCV000843580] |
Chr10:100990177..100990182 [GRCh38]
Chr10:102749934..102749939 [GRCh37]
Chr10:10q24.31 |
benign |
| NM_021830.5(TWNK):c.404G>A (p.Gly135Glu) |
single nucleotide variant |
not provided [RCV000994493] |
Chr10:100988614 [GRCh38]
Chr10:102748371 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1379C>G (p.Ala460Gly) |
single nucleotide variant |
not provided [RCV000994495] |
Chr10:100989779 [GRCh38]
Chr10:102749536 [GRCh37]
Chr10:10q24.31 |
pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.75G>A (p.Arg25=) |
single nucleotide variant |
TWNK-related disorder [RCV004541832]|not provided [RCV000892247] |
Chr10:100988285 [GRCh38]
Chr10:102748042 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.985C>T (p.Arg329Ter) |
single nucleotide variant |
not provided [RCV001172038] |
Chr10:100989195 [GRCh38]
Chr10:102748952 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1000C>T (p.Arg334Ter) |
single nucleotide variant |
See cases [RCV001199239] |
Chr10:100989210 [GRCh38]
Chr10:102748967 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.632C>A (p.Pro211His) |
single nucleotide variant |
not specified [RCV004783681] |
Chr10:100988842 [GRCh38]
Chr10:102748599 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1074del (p.Ala359fs) |
deletion |
See cases [RCV001197687] |
Chr10:100989283 [GRCh38]
Chr10:102749040 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.913G>A (p.Val305Ile) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001108047]|Infantile onset spinocerebellar ataxia [RCV001108049]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001108048]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001108046]|not provided [RCV003688899] |
Chr10:100989123 [GRCh38]
Chr10:102748880 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1953G>A (p.Lys651=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001104944]|Infantile onset spinocerebellar ataxia [RCV001104947]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001104946]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001104945]|not provided [RCV003106115] |
Chr10:100993408 [GRCh38]
Chr10:102753165 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.*341G>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001105045]|Infantile onset spinocerebellar ataxia [RCV001105047]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001105046]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001105044] |
Chr10:100993851 [GRCh38]
Chr10:102753608 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.248C>T (p.Pro83Leu) |
single nucleotide variant |
not provided [RCV001093423] |
Chr10:100988458 [GRCh38]
Chr10:102748215 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*248G>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001103136]|Infantile onset spinocerebellar ataxia [RCV001103135]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001103133]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001103134] |
Chr10:100993758 [GRCh38]
Chr10:102753515 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NC_000010.10:g.(?_102747968)_(103535657_?)dup |
duplication |
not provided [RCV003105651] |
Chr10:102747968..103535657 [GRCh37]
Chr10:10q24.31-24.32 |
uncertain significance |
| NM_021830.5(TWNK):c.1735-260G>A |
single nucleotide variant |
not provided [RCV001566163] |
Chr10:100992930 [GRCh38]
Chr10:102752687 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NC_000010.10:g.(?_99344461)_(105992004_?)dup |
duplication |
not provided [RCV003107322] |
Chr10:99344461..105992004 [GRCh37]
Chr10:10q24.2-25.1 |
uncertain significance |
| NM_021830.5(TWNK):c.615C>T (p.Val205=) |
single nucleotide variant |
not provided [RCV003106611] |
Chr10:100988825 [GRCh38]
Chr10:102748582 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.2044C>T (p.Arg682Cys) |
single nucleotide variant |
not specified [RCV003317940] |
Chr10:100993499 [GRCh38]
Chr10:102753256 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1593-76T>C |
single nucleotide variant |
not provided [RCV001556035] |
Chr10:100990793 [GRCh38]
Chr10:102750550 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1485G>A (p.Arg495=) |
single nucleotide variant |
TWNK-related disorder [RCV004536240]|not provided [RCV001663139] |
Chr10:100990436 [GRCh38]
Chr10:102750193 [GRCh37]
Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.1270T>C (p.Phe424Leu) |
single nucleotide variant |
not provided [RCV001551082] |
Chr10:100989670 [GRCh38]
Chr10:102749427 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.726C>T (p.Ser242=) |
single nucleotide variant |
not provided [RCV001557443] |
Chr10:100988936 [GRCh38]
Chr10:102748693 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.689G>T (p.Gly230Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847301]|not provided [RCV001541221] |
Chr10:100988899 [GRCh38]
Chr10:102748656 [GRCh37]
Chr10:10q24.31 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.30C>G (p.Pro10=) |
single nucleotide variant |
not provided [RCV000951996] |
Chr10:100988240 [GRCh38]
Chr10:102747997 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001105996]|Infantile onset spinocerebellar ataxia [RCV001105993]|Infantile onset spinocerebellar ataxia [RCV001839029]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001105995]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001105994]|not provided [RCV002555039] |
Chr10:100990873 [GRCh38]
Chr10:102750630 [GRCh37]
Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001103037]|Infantile onset spinocerebellar ataxia [RCV001103038]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001103035]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001103036] |
Chr10:100993281 [GRCh38]
Chr10:102753038 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1430G>A (p.Arg477His) |
single nucleotide variant |
not provided [RCV001172039] |
Chr10:100989830 [GRCh38]
Chr10:102749587 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001104942]|Infantile onset spinocerebellar ataxia [RCV001104941]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001104940]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001104943]|TWNK-related disorder [RCV004740569]|not provided [RCV002240733]|not specified [RCV004702641] |
Chr10:100993361 [GRCh38]
Chr10:102753118 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*552G>C |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001105149]|Infantile onset spinocerebellar ataxia [RCV001105151]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001105150]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001105152] |
Chr10:100994062 [GRCh38]
Chr10:102753819 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.744T>C (p.Phe248=) |
single nucleotide variant |
not provided [RCV000913574] |
Chr10:100988954 [GRCh38]
Chr10:102748711 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1599A>C (p.Ala533=) |
single nucleotide variant |
not provided [RCV000911962] |
Chr10:100990875 [GRCh38]
Chr10:102750632 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1735-269G>T |
single nucleotide variant |
not provided [RCV001568267] |
Chr10:100992921 [GRCh38]
Chr10:102752678 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1734+84G>A |
single nucleotide variant |
not provided [RCV001658417] |
Chr10:100991094 [GRCh38]
Chr10:102750851 [GRCh37]
Chr10:10q24.31 |
benign |
| NM_021830.5(TWNK):c.1429C>T (p.Arg477Cys) |
single nucleotide variant |
not provided [RCV001553253]|not specified [RCV002509686] |
Chr10:100989829 [GRCh38]
Chr10:102749586 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.581G>A (p.Ser194Asn) |
single nucleotide variant |
not provided [RCV003775506]|not specified [RCV002470120] |
Chr10:100988791 [GRCh38]
Chr10:102748548 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1485-255C>T |
single nucleotide variant |
not provided [RCV001594361] |
Chr10:100990181 [GRCh38]
Chr10:102749938 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.907C>T (p.Arg303Trp) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV004785286]|not provided [RCV001581548] |
Chr10:100989117 [GRCh38]
Chr10:102748874 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.-304G>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001102636]|Infantile onset spinocerebellar ataxia [RCV001102637]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001104551]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001102635] |
Chr10:100987907 [GRCh38]
Chr10:102747664 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1572C>T (p.His524=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001102926]|Infantile onset spinocerebellar ataxia [RCV001102927]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001102928]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001102929]|not provided [RCV003718320] |
Chr10:100990523 [GRCh38]
Chr10:102750280 [GRCh37]
Chr10:10q24.31 |
likely benign|uncertain significance |
| NM_021830.5(TWNK):c.-592C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001104459]|Infantile onset spinocerebellar ataxia [RCV001104461]|Infantile onset spinocerebellar ataxia [RCV002505679]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001104462]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001104460] |
Chr10:100987619 [GRCh38]
Chr10:102747376 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*453G>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001108409]|Infantile onset spinocerebellar ataxia [RCV001108408]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001108406]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001108407] |
Chr10:100993963 [GRCh38]
Chr10:102753720 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*769G>A |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001105239]|Infantile onset spinocerebellar ataxia [RCV001105241]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001105240]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001105238] |
Chr10:100994279 [GRCh38]
Chr10:102754036 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.672T>C (p.Ala224=) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001108045]|Infantile onset spinocerebellar ataxia [RCV001105818]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001105817]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001105819]|TWNK-related disorder [RCV004538327]|not provided [RCV002069743] |
Chr10:100988882 [GRCh38]
Chr10:102748639 [GRCh37]
Chr10:10q24.31 |
benign|likely benign|uncertain significance |
| NM_021830.5(TWNK):c.*561C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001106279]|Infantile onset spinocerebellar ataxia [RCV001106278]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001106277]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001106276] |
Chr10:100994071 [GRCh38]
Chr10:102753828 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.-622C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001102533]|Infantile onset spinocerebellar ataxia [RCV001102534]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001102532]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001102535] |
Chr10:100987589 [GRCh38]
Chr10:102747346 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.-418C>T |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001102633]|Infantile onset spinocerebellar ataxia [RCV001102634]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001102631]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001102632] |
Chr10:100987793 [GRCh38]
Chr10:102747550 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.-584G>C |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001107224]|Infantile onset spinocerebellar ataxia [RCV001107221]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001107222]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001107223] |
Chr10:100987627 [GRCh38]
Chr10:102747384 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.*346A>C |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001105050]|Infantile onset spinocerebellar ataxia [RCV001105049]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001105048]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001105051] |
Chr10:100993856 [GRCh38]
Chr10:102753613 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) |
single nucleotide variant |
Autosomal recessive cerebellar ataxia [RCV001104650]|Infantile onset spinocerebellar ataxia [RCV001104648]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001105816]|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [RCV001104649]|not provided [RCV002555029] |
Chr10:100988806 [GRCh38]
Chr10:102748563 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.649C>T (p.Arg217Ter) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001253009]|not provided [RCV005057162] |
Chr10:100988859 [GRCh38]
Chr10:102748616 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.1566G>A (p.Met522Ile) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV001261411]|not provided [RCV001880019] |
Chr10:100990517 [GRCh38]
Chr10:102750274 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV001336024] |
Chr10:100989696 [GRCh38]
Chr10:102749453 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln) |
single nucleotide variant |
Perrault syndrome [RCV002539653]|not provided [RCV001663645]|not specified [RCV002300566] |
Chr10:100993257 [GRCh38]
Chr10:102753014 [GRCh37]
Chr10:10q24.31 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_021830.5(TWNK):c.1061G>A (p.Arg354His) |
single nucleotide variant |
not provided [RCV001312169] |
Chr10:100989271 [GRCh38]
Chr10:102749028 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1925A>G (p.Lys642Arg) |
single nucleotide variant |
not provided [RCV001310573]|not specified [RCV003479309] |
Chr10:100993380 [GRCh38]
Chr10:102753137 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV001332413]|not provided [RCV002546560] |
Chr10:100993460 [GRCh38]
Chr10:102753217 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1485-11C>T |
single nucleotide variant |
not provided [RCV001491373] |
Chr10:100990425 [GRCh38]
Chr10:102750182 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.68del (p.Gly23fs) |
deletion |
not provided [RCV001508301] |
Chr10:100988276 [GRCh38]
Chr10:102748033 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.860C>T (p.Thr287Met) |
single nucleotide variant |
not provided [RCV002239602] |
Chr10:100989070 [GRCh38]
Chr10:102748827 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.284G>C (p.Gly95Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004040059]|not provided [RCV001756290] |
Chr10:100988494 [GRCh38]
Chr10:102748251 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1324G>A (p.Gly442Ser) |
single nucleotide variant |
not provided [RCV001756785] |
Chr10:100989724 [GRCh38]
Chr10:102749481 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.341T>G (p.Met114Arg) |
single nucleotide variant |
not provided [RCV001763002] |
Chr10:100988551 [GRCh38]
Chr10:102748308 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1087T>C (p.Trp363Arg) |
single nucleotide variant |
not provided [RCV001763449] |
Chr10:100989297 [GRCh38]
Chr10:102749054 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.869T>C (p.Leu290Ser) |
single nucleotide variant |
not provided [RCV001758224] |
Chr10:100989079 [GRCh38]
Chr10:102748836 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.2000G>A (p.Cys667Tyr) |
single nucleotide variant |
not provided [RCV001772451] |
Chr10:100993455 [GRCh38]
Chr10:102753212 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1289T>A (p.Leu430Gln) |
single nucleotide variant |
not provided [RCV001754707] |
Chr10:100989689 [GRCh38]
Chr10:102749446 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1909C>T (p.Arg637Trp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847332]|not provided [RCV001771501] |
Chr10:100993364 [GRCh38]
Chr10:102753121 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1707G>T (p.Gln569His) |
single nucleotide variant |
not provided [RCV001767549] |
Chr10:100990983 [GRCh38]
Chr10:102750740 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.872C>T (p.Pro291Leu) |
single nucleotide variant |
not provided [RCV001786020] |
Chr10:100989082 [GRCh38]
Chr10:102748839 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1338C>G (p.Ile446Met) |
single nucleotide variant |
not provided [RCV001774290] |
Chr10:100989738 [GRCh38]
Chr10:102749495 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1627C>T (p.Arg543Trp) |
single nucleotide variant |
not provided [RCV001752240] |
Chr10:100990903 [GRCh38]
Chr10:102750660 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1115A>C (p.Gln372Pro) |
single nucleotide variant |
not provided [RCV001800157] |
Chr10:100989325 [GRCh38]
Chr10:102749082 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.193C>T (p.Arg65Trp) |
single nucleotide variant |
Perrault syndrome 5 [RCV005052839]|not provided [RCV001765423] |
Chr10:100988403 [GRCh38]
Chr10:102748160 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.388G>C (p.Glu130Gln) |
single nucleotide variant |
not provided [RCV001752760] |
Chr10:100988598 [GRCh38]
Chr10:102748355 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.561_563dup (p.Asp188dup) |
duplication |
not provided [RCV001771502] |
Chr10:100988768..100988769 [GRCh38]
Chr10:102748525..102748526 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1954C>A (p.Pro652Thr) |
single nucleotide variant |
not provided [RCV001758687] |
Chr10:100993409 [GRCh38]
Chr10:102753166 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1092C>G (p.His364Gln) |
single nucleotide variant |
not provided [RCV001799970] |
Chr10:100989302 [GRCh38]
Chr10:102749059 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1590C>T (p.Asp530=) |
single nucleotide variant |
not provided [RCV001758226] |
Chr10:100990541 [GRCh38]
Chr10:102750298 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1181G>A (p.Arg394His) |
single nucleotide variant |
not provided [RCV001776796] |
Chr10:100989391 [GRCh38]
Chr10:102749148 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.223C>T (p.His75Tyr) |
single nucleotide variant |
not provided [RCV001806565] |
Chr10:100988433 [GRCh38]
Chr10:102748190 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.727G>A (p.Ala243Thr) |
single nucleotide variant |
not provided [RCV001864574] |
Chr10:100988937 [GRCh38]
Chr10:102748694 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1192C>T (p.Leu398Phe) |
single nucleotide variant |
not provided [RCV002045158] |
Chr10:100989402 [GRCh38]
Chr10:102749159 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.2012C>G (p.Ala671Gly) |
single nucleotide variant |
not provided [RCV001988506] |
Chr10:100993467 [GRCh38]
Chr10:102753224 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1948A>C (p.Lys650Gln) |
single nucleotide variant |
not provided [RCV001987363] |
Chr10:100993403 [GRCh38]
Chr10:102753160 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1614C>T (p.Ile538=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848352] |
Chr10:100990890 [GRCh38]
Chr10:102750647 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1711G>A (p.Ala571Thr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848353] |
Chr10:100990987 [GRCh38]
Chr10:102750744 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.286G>A (p.Val96Ile) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848356] |
Chr10:100988496 [GRCh38]
Chr10:102748253 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.478C>T (p.Arg160Ter) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848357]|Perrault syndrome 5 [RCV005052842] |
Chr10:100988688 [GRCh38]
Chr10:102748445 [GRCh37]
Chr10:10q24.31 |
pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.551A>G (p.Lys184Arg) |
single nucleotide variant |
not provided [RCV002003813] |
Chr10:100988761 [GRCh38]
Chr10:102748518 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.602C>T (p.Ala201Val) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV005031953]|not provided [RCV001967815] |
Chr10:100988812 [GRCh38]
Chr10:102748569 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.712A>G (p.Ile238Val) |
single nucleotide variant |
not provided [RCV001908856] |
Chr10:100988922 [GRCh38]
Chr10:102748679 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.670G>A (p.Ala224Thr) |
single nucleotide variant |
not provided [RCV001911180] |
Chr10:100988880 [GRCh38]
Chr10:102748637 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.878C>T (p.Ala293Val) |
single nucleotide variant |
not provided [RCV001968471] |
Chr10:100989088 [GRCh38]
Chr10:102748845 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1466A>G (p.His489Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848351]|not provided [RCV002034753] |
Chr10:100989866 [GRCh38]
Chr10:102749623 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1910G>A (p.Arg637Gln) |
single nucleotide variant |
not provided [RCV001927380] |
Chr10:100993365 [GRCh38]
Chr10:102753122 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.548C>G (p.Thr183Ser) |
single nucleotide variant |
TWNK-related disorder [RCV004538676]|not provided [RCV002004561] |
Chr10:100988758 [GRCh38]
Chr10:102748515 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1069C>T (p.Arg357Cys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848349] |
Chr10:100989279 [GRCh38]
Chr10:102749036 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1395A>C (p.Glu465Asp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848350] |
Chr10:100989795 [GRCh38]
Chr10:102749552 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1972G>A (p.Gly658Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848355]|not provided [RCV003146249] |
Chr10:100993427 [GRCh38]
Chr10:102753184 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.469A>T (p.Ile157Phe) |
single nucleotide variant |
not provided [RCV001887730] |
Chr10:100988679 [GRCh38]
Chr10:102748436 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.767G>T (p.Arg256Leu) |
single nucleotide variant |
not provided [RCV002000437] |
Chr10:100988977 [GRCh38]
Chr10:102748734 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.267G>T (p.Gln89His) |
single nucleotide variant |
not provided [RCV002037296] |
Chr10:100988477 [GRCh38]
Chr10:102748234 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1999T>G (p.Cys667Gly) |
single nucleotide variant |
not provided [RCV001962320] |
Chr10:100993454 [GRCh38]
Chr10:102753211 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.115C>T (p.Arg39Cys) |
single nucleotide variant |
not provided [RCV002050904] |
Chr10:100988325 [GRCh38]
Chr10:102748082 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.290C>G (p.Thr97Ser) |
single nucleotide variant |
not provided [RCV002029602] |
Chr10:100988500 [GRCh38]
Chr10:102748257 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.352G>A (p.Ala118Thr) |
single nucleotide variant |
not provided [RCV002031653] |
Chr10:100988562 [GRCh38]
Chr10:102748319 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.989G>C (p.Cys330Ser) |
single nucleotide variant |
not provided [RCV001875080] |
Chr10:100989199 [GRCh38]
Chr10:102748956 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1070G>A (p.Arg357His) |
single nucleotide variant |
not provided [RCV001954861] |
Chr10:100989280 [GRCh38]
Chr10:102749037 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1171C>T (p.Arg391Cys) |
single nucleotide variant |
not provided [RCV002011296]|not specified [RCV004699645] |
Chr10:100989381 [GRCh38]
Chr10:102749138 [GRCh37]
Chr10:10q24.31 |
likely benign|uncertain significance |
| NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV002479711]|not provided [RCV002028572] |
Chr10:100989400 [GRCh38]
Chr10:102749157 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1618G>A (p.Gly540Arg) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV004729024]|not provided [RCV001996325] |
Chr10:100990894 [GRCh38]
Chr10:102750651 [GRCh37]
Chr10:10q24.31 |
likely benign|uncertain significance |
| NM_021830.5(TWNK):c.238G>A (p.Ala80Thr) |
single nucleotide variant |
not provided [RCV001960024] |
Chr10:100988448 [GRCh38]
Chr10:102748205 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.887C>T (p.Pro296Leu) |
single nucleotide variant |
not provided [RCV001934151] |
Chr10:100989097 [GRCh38]
Chr10:102748854 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1272C>T (p.Phe424=) |
single nucleotide variant |
not provided [RCV002147350] |
Chr10:100989672 [GRCh38]
Chr10:102749429 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1617C>T (p.Ile539=) |
single nucleotide variant |
not provided [RCV002189118] |
Chr10:100990893 [GRCh38]
Chr10:102750650 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1735-11C>T |
single nucleotide variant |
not provided [RCV002190908] |
Chr10:100993179 [GRCh38]
Chr10:102752936 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.12C>A (p.Leu4=) |
single nucleotide variant |
not provided [RCV002146223] |
Chr10:100988222 [GRCh38]
Chr10:102747979 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1902C>T (p.Asn634=) |
single nucleotide variant |
not provided [RCV002167548] |
Chr10:100993357 [GRCh38]
Chr10:102753114 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1026C>G (p.Pro342=) |
single nucleotide variant |
not provided [RCV002208955] |
Chr10:100989236 [GRCh38]
Chr10:102748993 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1989C>T (p.Asn663=) |
single nucleotide variant |
not provided [RCV002129050] |
Chr10:100993444 [GRCh38]
Chr10:102753201 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1845T>C (p.Gly615=) |
single nucleotide variant |
not provided [RCV002192326] |
Chr10:100993300 [GRCh38]
Chr10:102753057 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1428C>T (p.Asp476=) |
single nucleotide variant |
not provided [RCV002215303] |
Chr10:100989828 [GRCh38]
Chr10:102749585 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1854G>A (p.Pro618=) |
single nucleotide variant |
TWNK-related disorder [RCV004543883]|not provided [RCV002133974] |
Chr10:100993309 [GRCh38]
Chr10:102753066 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1401A>G (p.Gln467=) |
single nucleotide variant |
not provided [RCV002131389] |
Chr10:100989801 [GRCh38]
Chr10:102749558 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1131G>A (p.Val377=) |
single nucleotide variant |
not provided [RCV002152654] |
Chr10:100989341 [GRCh38]
Chr10:102749098 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1446C>T (p.Pro482=) |
single nucleotide variant |
not provided [RCV002131662] |
Chr10:100989846 [GRCh38]
Chr10:102749603 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1980G>A (p.Thr660=) |
single nucleotide variant |
TWNK-related disorder [RCV004531307]|not provided [RCV002212320] |
Chr10:100993435 [GRCh38]
Chr10:102753192 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1449C>T (p.Leu483=) |
single nucleotide variant |
not provided [RCV002171535] |
Chr10:100989849 [GRCh38]
Chr10:102749606 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1342A>G (p.Asn448Asp) |
single nucleotide variant |
not provided [RCV002211159] |
Chr10:100989742 [GRCh38]
Chr10:102749499 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1734+16C>T |
single nucleotide variant |
not provided [RCV002076931] |
Chr10:100991026 [GRCh38]
Chr10:102750783 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.2019T>C (p.Thr673=) |
single nucleotide variant |
not provided [RCV002201099] |
Chr10:100993474 [GRCh38]
Chr10:102753231 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.612T>C (p.Leu204=) |
single nucleotide variant |
not provided [RCV002175250] |
Chr10:100988822 [GRCh38]
Chr10:102748579 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1735-19_1735-17del |
deletion |
not provided [RCV002137836] |
Chr10:100993169..100993171 [GRCh38]
Chr10:102752926..102752928 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1309del (p.Gly436_Val437insTer) |
deletion |
not specified [RCV002248922] |
Chr10:100989705 [GRCh38]
Chr10:102749462 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.868T>A (p.Leu290Ile) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV002226831] |
Chr10:100989078 [GRCh38]
Chr10:102748835 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1243+14A>G |
single nucleotide variant |
not provided [RCV002139017] |
Chr10:100989467 [GRCh38]
Chr10:102749224 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV003333210]|Perrault syndrome 5 [RCV003333211]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV003333209]|not provided [RCV002244455] |
Chr10:100993413 [GRCh38]
Chr10:102753170 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1266G>A (p.Thr422=) |
single nucleotide variant |
not provided [RCV002182688] |
Chr10:100989666 [GRCh38]
Chr10:102749423 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1592+7G>T |
single nucleotide variant |
not provided [RCV002160049] |
Chr10:100990550 [GRCh38]
Chr10:102750307 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.702G>A (p.Glu234=) |
single nucleotide variant |
not provided [RCV002099320] |
Chr10:100988912 [GRCh38]
Chr10:102748669 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1863C>G (p.Phe621Leu) |
single nucleotide variant |
not provided [RCV004786029] |
Chr10:100993318 [GRCh38]
Chr10:102753075 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.484A>G (p.Ile162Val) |
single nucleotide variant |
not provided [RCV003117971] |
Chr10:100988694 [GRCh38]
Chr10:102748451 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.2012C>A (p.Ala671Asp) |
single nucleotide variant |
not provided [RCV003117988] |
Chr10:100993467 [GRCh38]
Chr10:102753224 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.515A>C (p.Glu172Ala) |
single nucleotide variant |
not provided [RCV003112038] |
Chr10:100988725 [GRCh38]
Chr10:102748482 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.794G>A (p.Arg265His) |
single nucleotide variant |
not provided [RCV003112206] |
Chr10:100989004 [GRCh38]
Chr10:102748761 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1484+9C>T |
single nucleotide variant |
not provided [RCV003115139] |
Chr10:100989893 [GRCh38]
Chr10:102749650 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.564C>A (p.Asp188Glu) |
single nucleotide variant |
not provided [RCV003121815] |
Chr10:100988774 [GRCh38]
Chr10:102748531 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.718C>T (p.Arg240Ter) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV003123518] |
Chr10:100988928 [GRCh38]
Chr10:102748685 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.752C>T (p.Pro251Leu) |
single nucleotide variant |
not provided [RCV003149365] |
Chr10:100988962 [GRCh38]
Chr10:102748719 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.299T>G (p.Phe100Cys) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV003148440] |
Chr10:100988509 [GRCh38]
Chr10:102748266 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1433T>G (p.Phe478Cys) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV002250853]|not provided [RCV003094071] |
Chr10:100989833 [GRCh38]
Chr10:102749590 [GRCh37]
Chr10:10q24.31 |
pathogenic|likely pathogenic |
| NM_021830.5(TWNK):c.1421G>C (p.Trp474Ser) |
single nucleotide variant |
See cases [RCV003233001] |
Chr10:100989821 [GRCh38]
Chr10:102749578 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1224C>T (p.Gly408=) |
single nucleotide variant |
not provided [RCV002275438] |
Chr10:100989434 [GRCh38]
Chr10:102749191 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.566C>T (p.Thr189Ile) |
single nucleotide variant |
not provided [RCV002261913] |
Chr10:100988776 [GRCh38]
Chr10:102748533 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs) |
deletion |
Infantile onset spinocerebellar ataxia [RCV002287306] |
Chr10:100991003..100991006 [GRCh38]
Chr10:102750760..102750763 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.72del (p.Arg25fs) |
deletion |
not provided [RCV002262289] |
Chr10:100988281 [GRCh38]
Chr10:102748038 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.209C>T (p.Pro70Leu) |
single nucleotide variant |
not provided [RCV005102479]|not specified [RCV003236276] |
Chr10:100988419 [GRCh38]
Chr10:102748176 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.107C>T (p.Pro36Leu) |
single nucleotide variant |
not provided [RCV002261912] |
Chr10:100988317 [GRCh38]
Chr10:102748074 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1099A>G (p.Ile367Val) |
single nucleotide variant |
not provided [RCV002475050] |
Chr10:100989309 [GRCh38]
Chr10:102749066 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1120C>G (p.Arg374Gly) |
single nucleotide variant |
not provided [RCV002475051] |
Chr10:100989330 [GRCh38]
Chr10:102749087 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.181C>T (p.Arg61Cys) |
single nucleotide variant |
not provided [RCV002300833] |
Chr10:100988391 [GRCh38]
Chr10:102748148 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1485-1G>A |
single nucleotide variant |
Third degree atrioventricular block [RCV002305647] |
Chr10:100990435 [GRCh38]
Chr10:102750192 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1280A>G (p.Glu427Gly) |
single nucleotide variant |
not provided [RCV003015575] |
Chr10:100989680 [GRCh38]
Chr10:102749437 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1869G>A (p.Lys623=) |
single nucleotide variant |
not provided [RCV002726537] |
Chr10:100993324 [GRCh38]
Chr10:102753081 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.677G>T (p.Cys226Phe) |
single nucleotide variant |
not provided [RCV003013482] |
Chr10:100988887 [GRCh38]
Chr10:102748644 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1427A>T (p.Asp476Val) |
single nucleotide variant |
not provided [RCV002726960] |
Chr10:100989827 [GRCh38]
Chr10:102749584 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1986G>C (p.Gln662His) |
single nucleotide variant |
not provided [RCV002730850] |
Chr10:100993441 [GRCh38]
Chr10:102753198 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.53G>A (p.Arg18His) |
single nucleotide variant |
not provided [RCV002615580] |
Chr10:100988263 [GRCh38]
Chr10:102748020 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1644C>T (p.Asp548=) |
single nucleotide variant |
not provided [RCV002681597] |
Chr10:100990920 [GRCh38]
Chr10:102750677 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1494A>T (p.Ile498=) |
single nucleotide variant |
not provided [RCV002685931] |
Chr10:100990445 [GRCh38]
Chr10:102750202 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.905G>A (p.Arg302Gln) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV003989142]|not provided [RCV002750100] |
Chr10:100989115 [GRCh38]
Chr10:102748872 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.168T>A (p.Thr56=) |
single nucleotide variant |
not provided [RCV002690323] |
Chr10:100988378 [GRCh38]
Chr10:102748135 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1001G>T (p.Arg334Leu) |
single nucleotide variant |
not provided [RCV002843665] |
Chr10:100989211 [GRCh38]
Chr10:102748968 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.838A>T (p.Thr280Ser) |
single nucleotide variant |
not provided [RCV002975314] |
Chr10:100989048 [GRCh38]
Chr10:102748805 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1199G>A (p.Arg400His) |
single nucleotide variant |
not provided [RCV002755784] |
Chr10:100989409 [GRCh38]
Chr10:102749166 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.416G>T (p.Gly139Val) |
single nucleotide variant |
not provided [RCV002861370] |
Chr10:100988626 [GRCh38]
Chr10:102748383 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1926G>C (p.Lys642Asn) |
single nucleotide variant |
not provided [RCV002880324] |
Chr10:100993381 [GRCh38]
Chr10:102753138 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1979C>T (p.Thr660Met) |
single nucleotide variant |
not provided [RCV002904478] |
Chr10:100993434 [GRCh38]
Chr10:102753191 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1465C>T (p.His489Tyr) |
single nucleotide variant |
not provided [RCV002843214] |
Chr10:100989865 [GRCh38]
Chr10:102749622 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.625_626insCCTCCCCTGGGT (p.Trp208_Phe209insSerSerProGly) |
insertion |
not provided [RCV003014539] |
Chr10:100988832..100988833 [GRCh38]
Chr10:102748589..102748590 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1182C>A (p.Arg394=) |
single nucleotide variant |
not provided [RCV002842345] |
Chr10:100989392 [GRCh38]
Chr10:102749149 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.208C>T (p.Pro70Ser) |
single nucleotide variant |
not provided [RCV002867764] |
Chr10:100988418 [GRCh38]
Chr10:102748175 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.2022C>T (p.Pro674=) |
single nucleotide variant |
not provided [RCV002620709] |
Chr10:100993477 [GRCh38]
Chr10:102753234 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.453C>T (p.Ser151=) |
single nucleotide variant |
not provided [RCV002785625]|not specified [RCV003994459] |
Chr10:100988663 [GRCh38]
Chr10:102748420 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.841C>T (p.Leu281Phe) |
single nucleotide variant |
not provided [RCV003021794] |
Chr10:100989051 [GRCh38]
Chr10:102748808 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.867C>T (p.Cys289=) |
single nucleotide variant |
not provided [RCV002663024] |
Chr10:100989077 [GRCh38]
Chr10:102748834 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1060C>T (p.Arg354Cys) |
single nucleotide variant |
not provided [RCV002705783] |
Chr10:100989270 [GRCh38]
Chr10:102749027 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.828G>A (p.Thr276=) |
single nucleotide variant |
TWNK-related disorder [RCV004540584]|not provided [RCV002620995] |
Chr10:100989038 [GRCh38]
Chr10:102748795 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.967C>A (p.Arg323=) |
single nucleotide variant |
not provided [RCV002979613] |
Chr10:100989177 [GRCh38]
Chr10:102748934 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.139G>A (p.Ala47Thr) |
single nucleotide variant |
not provided [RCV002999590] |
Chr10:100988349 [GRCh38]
Chr10:102748106 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.937C>T (p.Arg313Trp) |
single nucleotide variant |
not provided [RCV002735511] |
Chr10:100989147 [GRCh38]
Chr10:102748904 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1216C>T (p.Arg406Ter) |
single nucleotide variant |
not provided [RCV003055068] |
Chr10:100989426 [GRCh38]
Chr10:102749183 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1545C>T (p.Ile515=) |
single nucleotide variant |
not provided [RCV002622558] |
Chr10:100990496 [GRCh38]
Chr10:102750253 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1404G>A (p.Leu468=) |
single nucleotide variant |
not provided [RCV003035582] |
Chr10:100989804 [GRCh38]
Chr10:102749561 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.122G>C (p.Arg41Thr) |
single nucleotide variant |
not provided [RCV003038784] |
Chr10:100988332 [GRCh38]
Chr10:102748089 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.16C>T (p.Arg6Ter) |
single nucleotide variant |
not provided [RCV003020035] |
Chr10:100988226 [GRCh38]
Chr10:102747983 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.559G>T (p.Asp187Tyr) |
single nucleotide variant |
not provided [RCV003052946] |
Chr10:100988769 [GRCh38]
Chr10:102748526 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1734+15_1734+16delinsTA |
indel |
not provided [RCV002952623] |
Chr10:100991025..100991026 [GRCh38]
Chr10:102750782..102750783 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1111C>T (p.Arg371Trp) |
single nucleotide variant |
not provided [RCV002694807] |
Chr10:100989321 [GRCh38]
Chr10:102749078 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1080G>C (p.Leu360=) |
single nucleotide variant |
TWNK-related disorder [RCV004536423]|not provided [RCV002885071] |
Chr10:100989290 [GRCh38]
Chr10:102749047 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.708C>T (p.Thr236=) |
single nucleotide variant |
not provided [RCV002871032] |
Chr10:100988918 [GRCh38]
Chr10:102748675 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1244-17G>C |
single nucleotide variant |
not provided [RCV002622661] |
Chr10:100989627 [GRCh38]
Chr10:102749384 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.2051A>C (p.Lys684Thr) |
single nucleotide variant |
not provided [RCV003035434] |
Chr10:100993506 [GRCh38]
Chr10:102753263 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1851C>T (p.Phe617=) |
single nucleotide variant |
not provided [RCV003042435] |
Chr10:100993306 [GRCh38]
Chr10:102753063 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1896A>G (p.Pro632=) |
single nucleotide variant |
not provided [RCV002626141] |
Chr10:100993351 [GRCh38]
Chr10:102753108 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.68G>C (p.Gly23Ala) |
single nucleotide variant |
not provided [RCV002876195] |
Chr10:100988278 [GRCh38]
Chr10:102748035 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.607A>G (p.Ser203Gly) |
single nucleotide variant |
not provided [RCV002894542] |
Chr10:100988817 [GRCh38]
Chr10:102748574 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.604C>A (p.Arg202Ser) |
single nucleotide variant |
not provided [RCV003059726] |
Chr10:100988814 [GRCh38]
Chr10:102748571 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1778A>G (p.Lys593Arg) |
single nucleotide variant |
not provided [RCV003057833] |
Chr10:100993233 [GRCh38]
Chr10:102752990 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1515C>G (p.Val505=) |
single nucleotide variant |
not provided [RCV002663382] |
Chr10:100990466 [GRCh38]
Chr10:102750223 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1005A>G (p.Pro335=) |
single nucleotide variant |
not provided [RCV003040536] |
Chr10:100989215 [GRCh38]
Chr10:102748972 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1376T>G (p.Phe459Cys) |
single nucleotide variant |
not provided [RCV003039995] |
Chr10:100989776 [GRCh38]
Chr10:102749533 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.2017A>G (p.Thr673Ala) |
single nucleotide variant |
not provided [RCV003003348] |
Chr10:100993472 [GRCh38]
Chr10:102753229 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.204G>A (p.Gly68=) |
single nucleotide variant |
not provided [RCV002642994] |
Chr10:100988414 [GRCh38]
Chr10:102748171 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1209G>A (p.Lys403=) |
single nucleotide variant |
not provided [RCV002574258] |
Chr10:100989419 [GRCh38]
Chr10:102749176 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.951C>T (p.Ala317=) |
single nucleotide variant |
not provided [RCV002667773] |
Chr10:100989161 [GRCh38]
Chr10:102748918 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1793C>T (p.Pro598Leu) |
single nucleotide variant |
not provided [RCV003025705] |
Chr10:100993248 [GRCh38]
Chr10:102753005 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.601G>C (p.Ala201Pro) |
single nucleotide variant |
not provided [RCV002576181] |
Chr10:100988811 [GRCh38]
Chr10:102748568 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1756G>A (p.Val586Ile) |
single nucleotide variant |
not provided [RCV002890652] |
Chr10:100993211 [GRCh38]
Chr10:102752968 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1593-15G>T |
single nucleotide variant |
not provided [RCV002932099] |
Chr10:100990854 [GRCh38]
Chr10:102750611 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1868A>G (p.Lys623Arg) |
single nucleotide variant |
not provided [RCV002626708] |
Chr10:100993323 [GRCh38]
Chr10:102753080 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.297C>T (p.Ser99=) |
single nucleotide variant |
not provided [RCV003057058] |
Chr10:100988507 [GRCh38]
Chr10:102748264 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1484+12A>G |
single nucleotide variant |
not provided [RCV003057115] |
Chr10:100989896 [GRCh38]
Chr10:102749653 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1349G>A (p.Arg450Lys) |
single nucleotide variant |
not provided [RCV003024418] |
Chr10:100989749 [GRCh38]
Chr10:102749506 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1902C>G (p.Asn634Lys) |
single nucleotide variant |
not provided [RCV002596374] |
Chr10:100993357 [GRCh38]
Chr10:102753114 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1491A>G (p.Val497=) |
single nucleotide variant |
not provided [RCV002666529] |
Chr10:100990442 [GRCh38]
Chr10:102750199 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.813C>T (p.Ala271=) |
single nucleotide variant |
not provided [RCV002663225] |
Chr10:100989023 [GRCh38]
Chr10:102748780 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.968G>A (p.Arg323Gln) |
single nucleotide variant |
Perrault syndrome [RCV002640763]|not provided [RCV003679141] |
Chr10:100989178 [GRCh38]
Chr10:102748935 [GRCh37]
Chr10:10q24.31 |
uncertain significance|not provided |
| NM_021830.5(TWNK):c.1662A>T (p.Thr554=) |
single nucleotide variant |
not provided [RCV002811782] |
Chr10:100990938 [GRCh38]
Chr10:102750695 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1198C>T (p.Arg400Cys) |
single nucleotide variant |
Mitochondrial disease [RCV003389267]|not provided [RCV003062295] |
Chr10:100989408 [GRCh38]
Chr10:102749165 [GRCh37]
Chr10:10q24.31 |
likely pathogenic|uncertain significance |
| NM_021830.5(TWNK):c.1244-5T>G |
single nucleotide variant |
not provided [RCV002715781] |
Chr10:100989639 [GRCh38]
Chr10:102749396 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1301C>A (p.Ser434Tyr) |
single nucleotide variant |
not provided [RCV002676246] |
Chr10:100989701 [GRCh38]
Chr10:102749458 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.523C>G (p.Leu175Val) |
single nucleotide variant |
not provided [RCV002833096] |
Chr10:100988733 [GRCh38]
Chr10:102748490 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.85C>T (p.Arg29Ter) |
single nucleotide variant |
not provided [RCV003062294] |
Chr10:100988295 [GRCh38]
Chr10:102748052 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.390G>A (p.Glu130=) |
single nucleotide variant |
not provided [RCV003027326] |
Chr10:100988600 [GRCh38]
Chr10:102748357 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1243+6C>G |
single nucleotide variant |
not provided [RCV002671785] |
Chr10:100989459 [GRCh38]
Chr10:102749216 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.543C>G (p.Gly181=) |
single nucleotide variant |
not provided [RCV002672160] |
Chr10:100988753 [GRCh38]
Chr10:102748510 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.261T>G (p.Ser87=) |
single nucleotide variant |
not provided [RCV002716309] |
Chr10:100988471 [GRCh38]
Chr10:102748228 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1463T>C (p.Phe488Ser) |
single nucleotide variant |
not provided [RCV002646282] |
Chr10:100989863 [GRCh38]
Chr10:102749620 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1243+20C>T |
single nucleotide variant |
not provided [RCV002810202] |
Chr10:100989473 [GRCh38]
Chr10:102749230 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.2023G>A (p.Asp675Asn) |
single nucleotide variant |
not provided [RCV002628439] |
Chr10:100993478 [GRCh38]
Chr10:102753235 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1416T>C (p.Asp472=) |
single nucleotide variant |
not provided [RCV002598120] |
Chr10:100989816 [GRCh38]
Chr10:102749573 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1911G>C (p.Arg637=) |
single nucleotide variant |
not provided [RCV002715325] |
Chr10:100993366 [GRCh38]
Chr10:102753123 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.392G>A (p.Gly131Glu) |
single nucleotide variant |
not provided [RCV003028311] |
Chr10:100988602 [GRCh38]
Chr10:102748359 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1958C>G (p.Ser653Cys) |
single nucleotide variant |
not provided [RCV003029134] |
Chr10:100993413 [GRCh38]
Chr10:102753170 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1593-14_1593-12del |
microsatellite |
not provided [RCV002716306] |
Chr10:100990850..100990852 [GRCh38]
Chr10:102750607..102750609 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.20G>T (p.Ser7Ile) |
single nucleotide variant |
not provided [RCV003026316] |
Chr10:100988230 [GRCh38]
Chr10:102747987 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.395G>A (p.Arg132Gln) |
single nucleotide variant |
not provided [RCV003048005]|not specified [RCV004700903] |
Chr10:100988605 [GRCh38]
Chr10:102748362 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1456A>G (p.Met486Val) |
single nucleotide variant |
not provided [RCV003028517] |
Chr10:100989856 [GRCh38]
Chr10:102749613 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1076C>T (p.Ala359Val) |
single nucleotide variant |
not provided [RCV003008526] |
Chr10:100989286 [GRCh38]
Chr10:102749043 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1864A>C (p.Asn622His) |
single nucleotide variant |
not provided [RCV002646615] |
Chr10:100993319 [GRCh38]
Chr10:102753076 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1826G>A (p.Arg609His) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV003989772]|TWNK-related disorder [RCV004545346]|not provided [RCV002581174] |
Chr10:100993281 [GRCh38]
Chr10:102753038 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.417G>T (p.Gly139=) |
single nucleotide variant |
not provided [RCV003064091] |
Chr10:100988627 [GRCh38]
Chr10:102748384 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.85C>A (p.Arg29=) |
single nucleotide variant |
not provided [RCV002635993] |
Chr10:100988295 [GRCh38]
Chr10:102748052 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1255A>G (p.Ser419Gly) |
single nucleotide variant |
not provided [RCV002604621] |
Chr10:100989655 [GRCh38]
Chr10:102749412 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.592C>G (p.Leu198Val) |
single nucleotide variant |
not provided [RCV002654291] |
Chr10:100988802 [GRCh38]
Chr10:102748559 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1020C>G (p.Pro340=) |
single nucleotide variant |
not provided [RCV002583323] |
Chr10:100989230 [GRCh38]
Chr10:102748987 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1788C>T (p.Thr596=) |
single nucleotide variant |
TWNK-related disorder [RCV004545356]|not provided [RCV002609433] |
Chr10:100993243 [GRCh38]
Chr10:102753000 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1350A>G (p.Arg450=) |
single nucleotide variant |
not provided [RCV002587728] |
Chr10:100989750 [GRCh38]
Chr10:102749507 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1716C>T (p.Ser572=) |
single nucleotide variant |
not provided [RCV002605849] |
Chr10:100990992 [GRCh38]
Chr10:102750749 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.47C>T (p.Pro16Leu) |
single nucleotide variant |
not provided [RCV003070893] |
Chr10:100988257 [GRCh38]
Chr10:102748014 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1959T>C (p.Ser653=) |
single nucleotide variant |
not provided [RCV002676804] |
Chr10:100993414 [GRCh38]
Chr10:102753171 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.764G>C (p.Arg255Pro) |
single nucleotide variant |
not provided [RCV002590167] |
Chr10:100988974 [GRCh38]
Chr10:102748731 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.733C>T (p.His245Tyr) |
single nucleotide variant |
not provided [RCV002658198] |
Chr10:100988943 [GRCh38]
Chr10:102748700 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.691G>C (p.Val231Leu) |
single nucleotide variant |
not provided [RCV002658221] |
Chr10:100988901 [GRCh38]
Chr10:102748658 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1759C>A (p.Leu587Met) |
single nucleotide variant |
not provided [RCV003071252] |
Chr10:100993214 [GRCh38]
Chr10:102752971 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.694A>G (p.Ser232Gly) |
single nucleotide variant |
not provided [RCV002610983] |
Chr10:100988904 [GRCh38]
Chr10:102748661 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.517dup (p.Val173fs) |
duplication |
not provided [RCV002814875] |
Chr10:100988725..100988726 [GRCh38]
Chr10:102748482..102748483 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.630C>A (p.Ser210=) |
single nucleotide variant |
not provided [RCV002606564] |
Chr10:100988840 [GRCh38]
Chr10:102748597 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.2026C>G (p.Gln676Glu) |
single nucleotide variant |
not provided [RCV003073103] |
Chr10:100993481 [GRCh38]
Chr10:102753238 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1380C>T (p.Ala460=) |
single nucleotide variant |
not provided [RCV002582307] |
Chr10:100989780 [GRCh38]
Chr10:102749537 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1399C>T (p.Gln467Ter) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV004797410] |
Chr10:100989799 [GRCh38]
Chr10:102749556 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.742_745del (p.Phe248fs) |
deletion |
Perrault syndrome 5 [RCV004790066] |
Chr10:100988950..100988953 [GRCh38]
Chr10:102748707..102748710 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.413A>C (p.Glu138Ala) |
single nucleotide variant |
not provided [RCV003222677] |
Chr10:100988623 [GRCh38]
Chr10:102748380 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1639A>G (p.Thr547Ala) |
single nucleotide variant |
not provided [RCV003139199] |
Chr10:100990915 [GRCh38]
Chr10:102750672 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.562G>A (p.Asp188Asn) |
single nucleotide variant |
not provided [RCV003139200] |
Chr10:100988772 [GRCh38]
Chr10:102748529 [GRCh37]
Chr10:10q24.31 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_021830.5(TWNK):c.1306G>C (p.Gly436Arg) |
single nucleotide variant |
not provided [RCV003139201] |
Chr10:100989706 [GRCh38]
Chr10:102749463 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1916AGA[1] (p.Lys640del) |
microsatellite |
not provided [RCV003228398] |
Chr10:100993370..100993372 [GRCh38]
Chr10:102753127..102753129 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1166G>T (p.Gly389Val) |
single nucleotide variant |
not provided [RCV003325043] |
Chr10:100989376 [GRCh38]
Chr10:102749133 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3 |
pathogenic |
| NM_021830.5(TWNK):c.1074C>A (p.Thr358=) |
single nucleotide variant |
not provided [RCV003422811] |
Chr10:100989284 [GRCh38]
Chr10:102749041 [GRCh37]
Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity |
| NM_021830.5(TWNK):c.1620G>A (p.Gly540=) |
single nucleotide variant |
not provided [RCV003570045] |
Chr10:100990896 [GRCh38]
Chr10:102750653 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1511C>T (p.Ala504Val) |
single nucleotide variant |
not provided [RCV003482788] |
Chr10:100990462 [GRCh38]
Chr10:102750219 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.50T>A (p.Leu17Gln) |
single nucleotide variant |
not provided [RCV003568995] |
Chr10:100988260 [GRCh38]
Chr10:102748017 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1214A>G (p.His405Arg) |
single nucleotide variant |
not provided [RCV003571157] |
Chr10:100989424 [GRCh38]
Chr10:102749181 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1388G>A (p.Arg463Gln) |
single nucleotide variant |
Auditory neuropathy [RCV003484485] |
Chr10:100989788 [GRCh38]
Chr10:102749545 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1101C>G (p.Ile367Met) |
single nucleotide variant |
not provided [RCV003482787] |
Chr10:100989311 [GRCh38]
Chr10:102749068 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1285G>T (p.Ala429Ser) |
single nucleotide variant |
not provided [RCV003481989] |
Chr10:100989685 [GRCh38]
Chr10:102749442 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1217G>A (p.Arg406Gln) |
single nucleotide variant |
Auditory neuropathy [RCV003484478] |
Chr10:100989427 [GRCh38]
Chr10:102749184 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.986G>A (p.Arg329Gln) |
single nucleotide variant |
not provided [RCV003422810] |
Chr10:100989196 [GRCh38]
Chr10:102748953 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1034C>T (p.Ala345Val) |
single nucleotide variant |
not provided [RCV003443821] |
Chr10:100989244 [GRCh38]
Chr10:102749001 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.437dup (p.Glu147fs) |
duplication |
not provided [RCV003422808] |
Chr10:100988645..100988646 [GRCh38]
Chr10:102748402..102748403 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.607A>C (p.Ser203Arg) |
single nucleotide variant |
not provided [RCV003422809] |
Chr10:100988817 [GRCh38]
Chr10:102748574 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.700G>A (p.Glu234Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004364721]|not provided [RCV003456718] |
Chr10:100988910 [GRCh38]
Chr10:102748667 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1155G>A (p.Glu385=) |
single nucleotide variant |
not provided [RCV003422812] |
Chr10:100989365 [GRCh38]
Chr10:102749122 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.196G>A (p.Gly66Arg) |
single nucleotide variant |
not provided [RCV003422807] |
Chr10:100988406 [GRCh38]
Chr10:102748163 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1752C>T (p.Asp584=) |
single nucleotide variant |
not provided [RCV003422813] |
Chr10:100993207 [GRCh38]
Chr10:102752964 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.362G>A (p.Ser121Asn) |
single nucleotide variant |
not provided [RCV003666239] |
Chr10:100988572 [GRCh38]
Chr10:102748329 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.309C>T (p.Phe103=) |
single nucleotide variant |
not specified [RCV003489610] |
Chr10:100988519 [GRCh38]
Chr10:102748276 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1218A>G (p.Arg406=) |
single nucleotide variant |
not provided [RCV003714078] |
Chr10:100989428 [GRCh38]
Chr10:102749185 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1012C>G (p.Gln338Glu) |
single nucleotide variant |
not provided [RCV003688646] |
Chr10:100989222 [GRCh38]
Chr10:102748979 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1821G>A (p.Lys607=) |
single nucleotide variant |
not provided [RCV003686767] |
Chr10:100993276 [GRCh38]
Chr10:102753033 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1448T>A (p.Leu483His) |
single nucleotide variant |
not provided [RCV003688535] |
Chr10:100989848 [GRCh38]
Chr10:102749605 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1846G>A (p.Val616Ile) |
single nucleotide variant |
not provided [RCV003661709] |
Chr10:100993301 [GRCh38]
Chr10:102753058 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1687G>A (p.Asp563Asn) |
single nucleotide variant |
not provided [RCV003688767] |
Chr10:100990963 [GRCh38]
Chr10:102750720 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1409A>C (p.Lys470Thr) |
single nucleotide variant |
not provided [RCV003576409] |
Chr10:100989809 [GRCh38]
Chr10:102749566 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.84C>G (p.Pro28=) |
single nucleotide variant |
not provided [RCV003829517] |
Chr10:100988294 [GRCh38]
Chr10:102748051 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1635T>G (p.Phe545Leu) |
single nucleotide variant |
not provided [RCV003694975] |
Chr10:100990911 [GRCh38]
Chr10:102750668 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.503C>G (p.Pro168Arg) |
single nucleotide variant |
TWNK-related disorder [RCV004738908]|not provided [RCV003830846] |
Chr10:100988713 [GRCh38]
Chr10:102748470 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.487C>T (p.Pro163Ser) |
single nucleotide variant |
not provided [RCV003713062] |
Chr10:100988697 [GRCh38]
Chr10:102748454 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.631C>T (p.Pro211Ser) |
single nucleotide variant |
not provided [RCV003491817] |
Chr10:100988841 [GRCh38]
Chr10:102748598 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1908C>G (p.Ala636=) |
single nucleotide variant |
not provided [RCV003715658] |
Chr10:100993363 [GRCh38]
Chr10:102753120 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.876T>G (p.Pro292=) |
single nucleotide variant |
not provided [RCV003876264] |
Chr10:100989086 [GRCh38]
Chr10:102748843 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1735-3del |
deletion |
Inborn genetic diseases [RCV004371895]|not provided [RCV003697677] |
Chr10:100993184 [GRCh38]
Chr10:102752941 [GRCh37]
Chr10:10q24.31 |
benign|uncertain significance |
| NM_021830.5(TWNK):c.240A>C (p.Ala80=) |
single nucleotide variant |
not provided [RCV003699869] |
Chr10:100988450 [GRCh38]
Chr10:102748207 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.428G>A (p.Ser143Asn) |
single nucleotide variant |
not provided [RCV003659027] |
Chr10:100988638 [GRCh38]
Chr10:102748395 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.479G>A (p.Arg160Gln) |
single nucleotide variant |
not provided [RCV003849627] |
Chr10:100988689 [GRCh38]
Chr10:102748446 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1837G>C (p.Asp613His) |
single nucleotide variant |
not provided [RCV003835592] |
Chr10:100993292 [GRCh38]
Chr10:102753049 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1243+18C>T |
single nucleotide variant |
not provided [RCV003852004] |
Chr10:100989471 [GRCh38]
Chr10:102749228 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.798G>A (p.Glu266=) |
single nucleotide variant |
not provided [RCV003665282] |
Chr10:100989008 [GRCh38]
Chr10:102748765 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1902C>A (p.Asn634Lys) |
single nucleotide variant |
not provided [RCV003726771] |
Chr10:100993357 [GRCh38]
Chr10:102753114 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1817C>G (p.Ser606Cys) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV005030279]|not provided [RCV003815197] |
Chr10:100993272 [GRCh38]
Chr10:102753029 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1201A>C (p.Ile401Leu) |
single nucleotide variant |
not provided [RCV003666712] |
Chr10:100989411 [GRCh38]
Chr10:102749168 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1734+3G>A |
single nucleotide variant |
not provided [RCV003579640] |
Chr10:100991013 [GRCh38]
Chr10:102750770 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.2032G>A (p.Asp678Asn) |
single nucleotide variant |
not provided [RCV003668314] |
Chr10:100993487 [GRCh38]
Chr10:102753244 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.2002T>C (p.Ser668Pro) |
single nucleotide variant |
not provided [RCV003856608] |
Chr10:100993457 [GRCh38]
Chr10:102753214 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.454G>C (p.Glu152Gln) |
single nucleotide variant |
not provided [RCV003726449] |
Chr10:100988664 [GRCh38]
Chr10:102748421 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.552G>A (p.Lys184=) |
single nucleotide variant |
not provided [RCV003549290] |
Chr10:100988762 [GRCh38]
Chr10:102748519 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1002A>T (p.Arg334=) |
single nucleotide variant |
not provided [RCV003835733] |
Chr10:100989212 [GRCh38]
Chr10:102748969 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1592+6G>A |
single nucleotide variant |
not provided [RCV003832294] |
Chr10:100990549 [GRCh38]
Chr10:102750306 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.122G>A (p.Arg41Lys) |
single nucleotide variant |
not provided [RCV003559215] |
Chr10:100988332 [GRCh38]
Chr10:102748089 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1825C>T (p.Arg609Cys) |
single nucleotide variant |
not provided [RCV003814466] |
Chr10:100993280 [GRCh38]
Chr10:102753037 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.874C>T (p.Pro292Ser) |
single nucleotide variant |
not provided [RCV003834813] |
Chr10:100989084 [GRCh38]
Chr10:102748841 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.594G>A (p.Leu198=) |
single nucleotide variant |
not provided [RCV003672800] |
Chr10:100988804 [GRCh38]
Chr10:102748561 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1362C>T (p.Val454=) |
single nucleotide variant |
not provided [RCV003580230] |
Chr10:100989762 [GRCh38]
Chr10:102749519 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1251A>G (p.Thr417=) |
single nucleotide variant |
not provided [RCV003580832] |
Chr10:100989651 [GRCh38]
Chr10:102749408 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.2016C>G (p.Pro672=) |
single nucleotide variant |
not provided [RCV003672068] |
Chr10:100993471 [GRCh38]
Chr10:102753228 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1593-17T>G |
single nucleotide variant |
not provided [RCV003667468] |
Chr10:100990852 [GRCh38]
Chr10:102750609 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1359G>T (p.Arg453=) |
single nucleotide variant |
not provided [RCV003676623] |
Chr10:100989759 [GRCh38]
Chr10:102749516 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1794A>G (p.Pro598=) |
single nucleotide variant |
not provided [RCV003845556] |
Chr10:100993249 [GRCh38]
Chr10:102753006 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1484+10C>G |
single nucleotide variant |
not provided [RCV003705993] |
Chr10:100989894 [GRCh38]
Chr10:102749651 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.751C>G (p.Pro251Ala) |
single nucleotide variant |
not provided [RCV003682958] |
Chr10:100988961 [GRCh38]
Chr10:102748718 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1387C>G (p.Arg463Gly) |
single nucleotide variant |
TWNK-related disorder [RCV004542229]|not provided [RCV003730699] |
Chr10:100989787 [GRCh38]
Chr10:102749544 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1453T>A (p.Phe485Ile) |
single nucleotide variant |
not provided [RCV003680381] |
Chr10:100989853 [GRCh38]
Chr10:102749610 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.760A>C (p.Ser254Arg) |
single nucleotide variant |
not provided [RCV003679265] |
Chr10:100988970 [GRCh38]
Chr10:102748727 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.29C>A (p.Pro10His) |
single nucleotide variant |
not provided [RCV003734164] |
Chr10:100988239 [GRCh38]
Chr10:102747996 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.369A>G (p.Glu123=) |
single nucleotide variant |
not provided [RCV003863449] |
Chr10:100988579 [GRCh38]
Chr10:102748336 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.840C>A (p.Thr280=) |
single nucleotide variant |
not provided [RCV003681731] |
Chr10:100989050 [GRCh38]
Chr10:102748807 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.604C>T (p.Arg202Cys) |
single nucleotide variant |
not provided [RCV003862980] |
Chr10:100988814 [GRCh38]
Chr10:102748571 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1891C>G (p.Pro631Ala) |
single nucleotide variant |
not provided [RCV003721037] |
Chr10:100993346 [GRCh38]
Chr10:102753103 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1495G>C (p.Asp499His) |
single nucleotide variant |
not provided [RCV003868000] |
Chr10:100990446 [GRCh38]
Chr10:102750203 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1001G>C (p.Arg334Pro) |
single nucleotide variant |
not provided [RCV003557530] |
Chr10:100989211 [GRCh38]
Chr10:102748968 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.787A>T (p.Thr263Ser) |
single nucleotide variant |
not provided [RCV003684201] |
Chr10:100988997 [GRCh38]
Chr10:102748754 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1598C>T (p.Ala533Val) |
single nucleotide variant |
not provided [RCV003685000] |
Chr10:100990874 [GRCh38]
Chr10:102750631 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.16C>A (p.Arg6=) |
single nucleotide variant |
not provided [RCV003722564] |
Chr10:100988226 [GRCh38]
Chr10:102747983 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.2025C>T (p.Asp675=) |
single nucleotide variant |
not provided [RCV003840914] |
Chr10:100993480 [GRCh38]
Chr10:102753237 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1057T>C (p.Ser353Pro) |
single nucleotide variant |
not provided [RCV003685388] |
Chr10:100989267 [GRCh38]
Chr10:102749024 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 |
copy number gain |
not specified [RCV003986893] |
Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3 |
pathogenic |
| NM_021830.5(TWNK):c.1325dup (p.Gly442_Ser443insTer) |
duplication |
not provided [RCV003679777] |
Chr10:100989721..100989722 [GRCh38]
Chr10:102749478..102749479 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.852C>G (p.Pro284=) |
single nucleotide variant |
not provided [RCV003551790] |
Chr10:100989062 [GRCh38]
Chr10:102748819 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1942G>C (p.Val648Leu) |
single nucleotide variant |
not provided [RCV003866234] |
Chr10:100993397 [GRCh38]
Chr10:102753154 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1734A>G (p.Lys578=) |
single nucleotide variant |
TWNK-related disorder [RCV004539167]|not provided [RCV003843563] |
Chr10:100991010 [GRCh38]
Chr10:102750767 [GRCh37]
Chr10:10q24.31 |
likely benign|uncertain significance |
| NM_021830.5(TWNK):c.2023G>T (p.Asp675Tyr) |
single nucleotide variant |
not provided [RCV003861391] |
Chr10:100993478 [GRCh38]
Chr10:102753235 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.954C>G (p.Ala318=) |
single nucleotide variant |
not provided [RCV003822675] |
Chr10:100989164 [GRCh38]
Chr10:102748921 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1372_1373del (p.Gln458fs) |
microsatellite |
not provided [RCV003541864] |
Chr10:100989769..100989770 [GRCh38]
Chr10:102749526..102749527 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.1862T>A (p.Phe621Tyr) |
single nucleotide variant |
not provided [RCV003679528] |
Chr10:100993317 [GRCh38]
Chr10:102753074 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.533C>T (p.Thr178Ile) |
single nucleotide variant |
not provided [RCV003859187] |
Chr10:100988743 [GRCh38]
Chr10:102748500 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.827C>T (p.Thr276Met) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [RCV003989938] |
Chr10:100989037 [GRCh38]
Chr10:102748794 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.2005G>C (p.Gly669Arg) |
single nucleotide variant |
not specified [RCV003988449] |
Chr10:100993460 [GRCh38]
Chr10:102753217 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.732C>T (p.Tyr244=) |
single nucleotide variant |
TWNK-related disorder [RCV004543965] |
Chr10:100988942 [GRCh38]
Chr10:102748699 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.104C>T (p.Pro35Leu) |
single nucleotide variant |
TWNK-related disorder [RCV004531943]|not provided [RCV005101543] |
Chr10:100988314 [GRCh38]
Chr10:102748071 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.95C>G (p.Ala32Gly) |
single nucleotide variant |
not provided [RCV003887608] |
Chr10:100988305 [GRCh38]
Chr10:102748062 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.888T>C (p.Pro296=) |
single nucleotide variant |
TWNK-related disorder [RCV004534592] |
Chr10:100989098 [GRCh38]
Chr10:102748855 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.33C>A (p.Leu11=) |
single nucleotide variant |
TWNK-related disorder [RCV004542451] |
Chr10:100988243 [GRCh38]
Chr10:102748000 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.591T>C (p.Tyr197=) |
single nucleotide variant |
TWNK-related disorder [RCV004542612] |
Chr10:100988801 [GRCh38]
Chr10:102748558 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1669A>G (p.Ile557Val) |
single nucleotide variant |
not provided [RCV004592287] |
Chr10:100990945 [GRCh38]
Chr10:102750702 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.50T>C (p.Leu17Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004483936] |
Chr10:100988260 [GRCh38]
Chr10:102748017 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.19A>G (p.Ser7Gly) |
single nucleotide variant |
not provided [RCV004592157] |
Chr10:100988229 [GRCh38]
Chr10:102747986 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NC_000010.10:g.(?_102747968)_(102789976_?)dup |
duplication |
not provided [RCV004581764] |
Chr10:102747968..102789976 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1020C>T (p.Pro340=) |
single nucleotide variant |
not specified [RCV004586086] |
Chr10:100989230 [GRCh38]
Chr10:102748987 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.902T>C (p.Phe301Ser) |
single nucleotide variant |
not provided [RCV004698223] |
Chr10:100989112 [GRCh38]
Chr10:102748869 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.499C>G (p.Leu167Val) |
single nucleotide variant |
not provided [RCV004793287] |
Chr10:100988709 [GRCh38]
Chr10:102748466 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.568C>A (p.Leu190Ile) |
single nucleotide variant |
not provided [RCV004793288] |
Chr10:100988778 [GRCh38]
Chr10:102748535 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1430G>C (p.Arg477Pro) |
single nucleotide variant |
not provided [RCV004793289] |
Chr10:100989830 [GRCh38]
Chr10:102749587 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.553G>A (p.Val185Ile) |
single nucleotide variant |
not provided [RCV004781041] |
Chr10:100988763 [GRCh38]
Chr10:102748520 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.506A>T (p.Asp169Val) |
single nucleotide variant |
TWNK-related disorder [RCV004740164] |
Chr10:100988716 [GRCh38]
Chr10:102748473 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.632C>T (p.Pro211Leu) |
single nucleotide variant |
not provided [RCV004795103] |
Chr10:100988842 [GRCh38]
Chr10:102748599 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.123G>C (p.Arg41Ser) |
single nucleotide variant |
TWNK-related disorder [RCV004730159] |
Chr10:100988333 [GRCh38]
Chr10:102748090 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.2042A>G (p.Lys681Arg) |
single nucleotide variant |
not provided [RCV004770984] |
Chr10:100993497 [GRCh38]
Chr10:102753254 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.957G>C (p.Lys319Asn) |
single nucleotide variant |
not specified [RCV004703132] |
Chr10:100989167 [GRCh38]
Chr10:102748924 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.508C>G (p.Gln170Glu) |
single nucleotide variant |
not provided [RCV004773768] |
Chr10:100988718 [GRCh38]
Chr10:102748475 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.42del (p.Leu14fs) |
deletion |
Perrault syndrome 5 [RCV005053877] |
Chr10:100988252 [GRCh38]
Chr10:102748009 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| GRCh37/hg19 10q24.2-24.32(chr10:101646797-103128048)x3 |
copy number gain |
not provided [RCV004819563] |
Chr10:101646797..103128048 [GRCh37]
Chr10:10q24.2-24.32 |
uncertain significance |
| NM_021830.5(TWNK):c.956A>G (p.Lys319Arg) |
single nucleotide variant |
not provided [RCV004823339] |
Chr10:100989166 [GRCh38]
Chr10:102748923 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.250T>G (p.Phe84Val) |
single nucleotide variant |
Infantile onset spinocerebellar ataxia [RCV005027125] |
Chr10:100988460 [GRCh38]
Chr10:102748217 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.441A>C (p.Glu147Asp) |
single nucleotide variant |
not provided [RCV004823403] |
Chr10:100988651 [GRCh38]
Chr10:102748408 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1734+11T>C |
single nucleotide variant |
not provided [RCV005146840] |
Chr10:100991021 [GRCh38]
Chr10:102750778 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1485-10C>G |
single nucleotide variant |
not provided [RCV005175745] |
Chr10:100990426 [GRCh38]
Chr10:102750183 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.60G>A (p.Glu20=) |
single nucleotide variant |
not provided [RCV005065791] |
Chr10:100988270 [GRCh38]
Chr10:102748027 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.712A>C (p.Ile238Leu) |
single nucleotide variant |
not provided [RCV005174844] |
Chr10:100988922 [GRCh38]
Chr10:102748679 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.129G>A (p.Glu43=) |
single nucleotide variant |
not provided [RCV005170845] |
Chr10:100988339 [GRCh38]
Chr10:102748096 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1485-19T>C |
single nucleotide variant |
not provided [RCV005170368] |
Chr10:100990417 [GRCh38]
Chr10:102750174 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1159G>A (p.Ala387Thr) |
single nucleotide variant |
not provided [RCV005063712] |
Chr10:100989369 [GRCh38]
Chr10:102749126 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1041C>T (p.Asn347=) |
single nucleotide variant |
not provided [RCV005062259] |
Chr10:100989251 [GRCh38]
Chr10:102749008 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1530T>C (p.Ile510=) |
single nucleotide variant |
not provided [RCV005063796] |
Chr10:100990481 [GRCh38]
Chr10:102750238 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.463C>T (p.Arg155Trp) |
single nucleotide variant |
not provided [RCV005087809] |
Chr10:100988673 [GRCh38]
Chr10:102748430 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1646A>G (p.Asn549Ser) |
single nucleotide variant |
not provided [RCV005065797] |
Chr10:100990922 [GRCh38]
Chr10:102750679 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.699del (p.Ser232_Tyr233insTer) |
deletion |
not provided [RCV005125170] |
Chr10:100988909 [GRCh38]
Chr10:102748666 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.67G>C (p.Gly23Arg) |
single nucleotide variant |
not provided [RCV005162166] |
Chr10:100988277 [GRCh38]
Chr10:102748034 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1789G>A (p.Gly597Arg) |
single nucleotide variant |
not provided [RCV005157402] |
Chr10:100993244 [GRCh38]
Chr10:102753001 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.637G>C (p.Gly213Arg) |
single nucleotide variant |
not provided [RCV005068640] |
Chr10:100988847 [GRCh38]
Chr10:102748604 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1115A>G (p.Gln372Arg) |
single nucleotide variant |
not provided [RCV005134311] |
Chr10:100989325 [GRCh38]
Chr10:102749082 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.414G>A (p.Glu138=) |
single nucleotide variant |
not provided [RCV005160501] |
Chr10:100988624 [GRCh38]
Chr10:102748381 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1735-5C>G |
single nucleotide variant |
not provided [RCV005133557] |
Chr10:100993185 [GRCh38]
Chr10:102752942 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1210G>A (p.Gly404Arg) |
single nucleotide variant |
not provided [RCV005163546] |
Chr10:100989420 [GRCh38]
Chr10:102749177 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1243+7C>T |
single nucleotide variant |
not provided [RCV005069452] |
Chr10:100989460 [GRCh38]
Chr10:102749217 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.769G>A (p.Asp257Asn) |
single nucleotide variant |
not provided [RCV005116865] |
Chr10:100988979 [GRCh38]
Chr10:102748736 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1736C>T (p.Ala579Val) |
single nucleotide variant |
not provided [RCV005157430] |
Chr10:100993191 [GRCh38]
Chr10:102752948 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1855C>T (p.Leu619Phe) |
single nucleotide variant |
not provided [RCV005154071] |
Chr10:100993310 [GRCh38]
Chr10:102753067 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1615A>C (p.Ile539Leu) |
single nucleotide variant |
not provided [RCV005150029] |
Chr10:100990891 [GRCh38]
Chr10:102750648 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1389G>T (p.Arg463=) |
single nucleotide variant |
not provided [RCV005154305] |
Chr10:100989789 [GRCh38]
Chr10:102749546 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1813G>A (p.Val605Met) |
single nucleotide variant |
not provided [RCV005119802] |
Chr10:100993268 [GRCh38]
Chr10:102753025 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1860del (p.Glu620fs) |
deletion |
not provided [RCV005165351] |
Chr10:100993315 [GRCh38]
Chr10:102753072 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1436A>C (p.Glu479Ala) |
single nucleotide variant |
not provided [RCV005162767] |
Chr10:100989836 [GRCh38]
Chr10:102749593 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1495G>T (p.Asp499Tyr) |
single nucleotide variant |
not provided [RCV005192978] |
Chr10:100990446 [GRCh38]
Chr10:102750203 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.792T>C (p.Ser264=) |
single nucleotide variant |
not provided [RCV005186591] |
Chr10:100989002 [GRCh38]
Chr10:102748759 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1485-9T>A |
single nucleotide variant |
not provided [RCV005084137] |
Chr10:100990427 [GRCh38]
Chr10:102750184 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.375C>A (p.Phe125Leu) |
single nucleotide variant |
not provided [RCV005193214] |
Chr10:100988585 [GRCh38]
Chr10:102748342 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.464G>A (p.Arg155Gln) |
single nucleotide variant |
not provided [RCV005162223] |
Chr10:100988674 [GRCh38]
Chr10:102748431 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1535_1536del (p.His512fs) |
deletion |
not provided [RCV005183132] |
Chr10:100990486..100990487 [GRCh38]
Chr10:102750243..102750244 [GRCh37]
Chr10:10q24.31 |
pathogenic |
| NM_021830.5(TWNK):c.669G>A (p.Glu223=) |
single nucleotide variant |
not provided [RCV005185367] |
Chr10:100988879 [GRCh38]
Chr10:102748636 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1077C>T (p.Ala359=) |
single nucleotide variant |
not provided [RCV005083858] |
Chr10:100989287 [GRCh38]
Chr10:102749044 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1512A>C (p.Ala504=) |
single nucleotide variant |
not provided [RCV005072134] |
Chr10:100990463 [GRCh38]
Chr10:102750220 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1115A>T (p.Gln372Leu) |
single nucleotide variant |
not provided [RCV005072277] |
Chr10:100989325 [GRCh38]
Chr10:102749082 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1735-14C>T |
single nucleotide variant |
not provided [RCV005071376] |
Chr10:100993176 [GRCh38]
Chr10:102752933 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1180C>T (p.Arg394Cys) |
single nucleotide variant |
not provided [RCV005154884] |
Chr10:100989390 [GRCh38]
Chr10:102749147 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1308G>A (p.Gly436=) |
single nucleotide variant |
not provided [RCV005074358] |
Chr10:100989708 [GRCh38]
Chr10:102749465 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.123G>A (p.Arg41=) |
single nucleotide variant |
not provided [RCV005154236] |
Chr10:100988333 [GRCh38]
Chr10:102748090 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.764G>A (p.Arg255His) |
single nucleotide variant |
not provided [RCV005069395] |
Chr10:100988974 [GRCh38]
Chr10:102748731 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1486A>G (p.Thr496Ala) |
single nucleotide variant |
not provided [RCV005128736] |
Chr10:100990437 [GRCh38]
Chr10:102750194 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1006G>A (p.Gly336Arg) |
single nucleotide variant |
not provided [RCV005202497] |
Chr10:100989216 [GRCh38]
Chr10:102748973 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1343A>G (p.Asn448Ser) |
single nucleotide variant |
not provided [RCV005182851] |
Chr10:100989743 [GRCh38]
Chr10:102749500 [GRCh37]
Chr10:10q24.31 |
likely pathogenic |
| NM_021830.5(TWNK):c.1734+18G>A |
single nucleotide variant |
not provided [RCV005128857] |
Chr10:100991028 [GRCh38]
Chr10:102750785 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.882A>C (p.Leu294Phe) |
single nucleotide variant |
not provided [RCV005202624] |
Chr10:100989092 [GRCh38]
Chr10:102748849 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.146A>T (p.Asp49Val) |
single nucleotide variant |
not provided [RCV005070960] |
Chr10:100988356 [GRCh38]
Chr10:102748113 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
| NM_021830.5(TWNK):c.1592+10A>T |
single nucleotide variant |
not provided [RCV005149174] |
Chr10:100990553 [GRCh38]
Chr10:102750310 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.1650C>T (p.Asn550=) |
single nucleotide variant |
not provided [RCV005180868] |
Chr10:100990926 [GRCh38]
Chr10:102750683 [GRCh37]
Chr10:10q24.31 |
likely benign |
| NM_021830.5(TWNK):c.203G>C (p.Gly68Ala) |
single nucleotide variant |
not provided [RCV005155822] |
Chr10:100988413 [GRCh38]
Chr10:102748170 [GRCh37]
Chr10:10q24.31 |
uncertain significance |
