| NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs) |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000542958] |
Chr11:68935344..68935345 [GRCh38]
Chr11:68702812..68702813 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1756+4C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000548573]|Inborn genetic diseases [RCV002413541]|not provided [RCV001509412]|not specified [RCV000611337] |
Chr11:68935426 [GRCh38]
Chr11:68702894 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.639T>C (p.His213=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000551145]|Inborn genetic diseases [RCV002358515] |
Chr11:68911531 [GRCh38]
Chr11:68678999 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000530655] |
Chr11:68906148 [GRCh38]
Chr11:68673616 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000548326]|not provided [RCV001171657] |
Chr11:68933865 [GRCh38]
Chr11:68701333 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.659A>G (p.Lys220Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000526981] |
Chr11:68911551 [GRCh38]
Chr11:68679019 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1143C>T (p.Leu381=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000545655]|Inborn genetic diseases [RCV002456138]|not provided [RCV001532174]|not specified [RCV000600634] |
Chr11:68929265 [GRCh38]
Chr11:68696733 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000235071]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000693255]|not provided [RCV000235520] |
Chr11:68934466 [GRCh38]
Chr11:68701934 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001095539]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003764541]|Charcot-Marie-Tooth disease axonal type 2S [RCV000664227]|not provided [RCV003488333] |
Chr11:68911530 [GRCh38]
Chr11:68678998 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000535929]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000664209]|Peripheral neuropathy [RCV001813969]|not provided [RCV003114179] |
Chr11:68935404 [GRCh38]
Chr11:68702872 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000009685]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003764542] |
Chr11:68906103 [GRCh38]
Chr11:68673571 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.675del (p.Glu226fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000009686]|Charcot-Marie-Tooth disease axonal type 2S [RCV002288478]|not provided [RCV001090412] |
Chr11:68911566 [GRCh38]
Chr11:68679034 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000009687]|Charcot-Marie-Tooth disease axonal type 2S [RCV001807723] |
Chr11:68911599 [GRCh38]
Chr11:68679067 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2611+1G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000009688]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000528403]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789975]|not provided [RCV000598811] |
Chr11:68937092 [GRCh38]
Chr11:68704560 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000009689] |
Chr11:68929229 [GRCh38]
Chr11:68696697 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000009690] |
Chr11:68906786..68925257 [GRCh38]
Chr11:68674254..68692725 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.87-160G>A |
single nucleotide variant |
not provided [RCV001564487] |
Chr11:68905909 [GRCh38]
Chr11:68673377 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000542231] |
Chr11:68934487 [GRCh38]
Chr11:68701955 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2875G>A (p.Gly959Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000544779] |
Chr11:68939624 [GRCh38]
Chr11:68707092 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001504951]|Charcot-Marie-Tooth disease [RCV001174197]|Inborn genetic diseases [RCV002404459] |
Chr11:68934522 [GRCh38]
Chr11:68701990 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1848T>C (p.Thr616=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000527377]|Inborn genetic diseases [RCV002413542] |
Chr11:68936328 [GRCh38]
Chr11:68703796 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000876373]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001113751]|Inborn genetic diseases [RCV002413398]|not provided [RCV001568852]|not specified [RCV000518138] |
Chr11:68936325 [GRCh38]
Chr11:68703793 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1515C>T (p.Asp505=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000529002]|Inborn genetic diseases [RCV002395396] |
Chr11:68933891 [GRCh38]
Chr11:68701359 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2715C>T (p.Gly905=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000524913]|Inborn genetic diseases [RCV002431625]|not provided [RCV001539327] |
Chr11:68938285 [GRCh38]
Chr11:68705753 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000707111] |
Chr11:68936936 [GRCh38]
Chr11:68704404 [GRCh37]
Chr11:68460980 [NCBI36]
Chr11:11q13.3 |
uncertain significance|not provided |
| NM_002180.3(IGHMBP2):c.256+9G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000549149]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000625147]|Charcot-Marie-Tooth disease [RCV001173368]|IGHMBP2-related condition [RCV003915253]|not provided [RCV001812052]|not specified [RCV000175714] |
Chr11:68906247 [GRCh38]
Chr11:68673715 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000313056]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000535648]|Charcot-Marie-Tooth disease [RCV001173372]|not provided [RCV001812150]|not specified [RCV000174516] |
Chr11:68936919 [GRCh38]
Chr11:68704387 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642648]|Charcot-Marie-Tooth disease [RCV001174182]|not provided [RCV001721108]|not specified [RCV000175715] |
Chr11:68906114 [GRCh38]
Chr11:68673582 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000576485]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001519188]|Charcot-Marie-Tooth disease [RCV001173355]|Charcot-Marie-Tooth disease axonal type 2S [RCV001729427]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789356]|not provided [RCV001711595]|not specified [RCV000174725] |
Chr11:68938206 [GRCh38]
Chr11:68705674 [GRCh37]
Chr11:11q13.3 |
benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000872910]|Charcot-Marie-Tooth disease [RCV001174204]|IGHMBP2-related condition [RCV003907563]|Inborn genetic diseases [RCV002453611]|not provided [RCV001697123]|not specified [RCV000174727] |
Chr11:68938300 [GRCh38]
Chr11:68705768 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000550952]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000995566]|Charcot-Marie-Tooth disease axonal type 2S [RCV000149574]|Distal spinal muscular atrophy [RCV000790277]|Inborn genetic diseases [RCV002390316]|Peripheral neuropathy [RCV001814070]|not provided [RCV000255598] |
Chr11:68906120 [GRCh38]
Chr11:68673588 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance|not provided |
| NM_002180.3(IGHMBP2):c.1873A>G (p.Thr625Ala) |
single nucleotide variant |
not provided [RCV000514074] |
Chr11:68936353 [GRCh38]
Chr11:68703821 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000303117]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001079229]|Charcot-Marie-Tooth disease [RCV001173361]|Inborn genetic diseases [RCV002426862]|not provided [RCV000557136]|not specified [RCV000180227] |
Chr11:68929226 [GRCh38]
Chr11:68696694 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000292195]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001079230]|Charcot-Marie-Tooth disease [RCV001173360]|Inborn genetic diseases [RCV002381579]|not provided [RCV000547375]|not specified [RCV000179403] |
Chr11:68914852 [GRCh38]
Chr11:68682320 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| IGHMBP2, IVS3DS, G-T, +1 |
single nucleotide variant |
Charcot-Marie-Tooth disease, axonal, type 2S [RCV000190835]|Charcot-Marie-Tooth disease, axonal, type 2s [RCV000190835] |
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001348350]|not provided [RCV003132444] |
Chr11:68917788 [GRCh38]
Chr11:68685256 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000692765]|Inborn genetic diseases [RCV002399621]|not provided [RCV000174063] |
Chr11:68934472 [GRCh38]
Chr11:68701940 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002056927]|not provided [RCV000174872] |
Chr11:68939545 [GRCh38]
Chr11:68707013 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000334797]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001084583]|Charcot-Marie-Tooth disease [RCV001173329]|Charcot-Marie-Tooth disease axonal type 2S [RCV001336444]|Inborn genetic diseases [RCV002433765]|not provided [RCV000712265]|not specified [RCV001706121] |
Chr11:68939671 [GRCh38]
Chr11:68707139 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000384551]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001085294]|Charcot-Marie-Tooth disease [RCV001174195]|not provided [RCV000724480] |
Chr11:68939542 [GRCh38]
Chr11:68707010 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000702785]|Charcot-Marie-Tooth disease [RCV001173571]|Inborn genetic diseases [RCV002453610]|not provided [RCV000724757] |
Chr11:68938188 [GRCh38]
Chr11:68705656 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1 |
copy number loss |
See cases [RCV000135609] |
Chr11:67217264..69448598 [GRCh38]
Chr11:66984735..69263366 [GRCh37]
Chr11:66741311..68972547 [NCBI36]
Chr11:11q13.2-13.3 |
likely pathogenic |
| GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3 |
copy number gain |
See cases [RCV000137992] |
Chr11:68205963..69580475 [GRCh38]
Chr11:67973430..69395243 [GRCh37]
Chr11:67730006..69104424 [NCBI36]
Chr11:11q13.2-13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000330776]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000528045]|Charcot-Marie-Tooth disease [RCV001173346]|Charcot-Marie-Tooth disease axonal type 2S [RCV001336447]|Inborn genetic diseases [RCV002399756]|not provided [RCV000767054]|not specified [RCV000202957] |
Chr11:68914878 [GRCh38]
Chr11:68682346 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 |
copy number loss |
See cases [RCV000142138] |
Chr11:68031693..71593495 [GRCh38]
Chr11:67799160..71304541 [GRCh37]
Chr11:67555736..70982189 [NCBI36]
Chr11:11q13.2-13.4 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) |
microsatellite |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000552806]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001261534]|Charcot-Marie-Tooth disease [RCV000192260]|Charcot-Marie-Tooth disease axonal type 2S [RCV000149575]|Distal spinal muscular atrophy [RCV000664248]|Inborn genetic diseases [RCV000624736]|not provided [RCV000221709] |
Chr11:68939658..68939659 [GRCh38]
Chr11:68707126..68707127 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_002180.3(IGHMBP2):c.604T>G (p.Phe202Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000192259]|Charcot-Marie-Tooth disease axonal type 2S [RCV000149576] |
Chr11:68911496 [GRCh38]
Chr11:68678964 [GRCh37]
Chr11:11q13.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_002180.3(IGHMBP2):c.1118T>G (p.Val373Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2S [RCV000149577] |
Chr11:68929240 [GRCh38]
Chr11:68696708 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2S [RCV000149578]|Inborn genetic diseases [RCV002390317]|not provided [RCV000236327] |
Chr11:68934508 [GRCh38]
Chr11:68701976 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001852153]|not provided [RCV000175713] |
Chr11:68906211 [GRCh38]
Chr11:68673679 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001088646]|Charcot-Marie-Tooth disease [RCV001174201]|Inborn genetic diseases [RCV002408776]|not provided [RCV000724748] |
Chr11:68914966 [GRCh38]
Chr11:68682434 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000763762]|not provided [RCV000179402] |
Chr11:68914919 [GRCh38]
Chr11:68682387 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000525446]|Inborn genetic diseases [RCV002426859]|not provided [RCV000179404] |
Chr11:68914943 [GRCh38]
Chr11:68682411 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1060+8G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000398567]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001080208]|Charcot-Marie-Tooth disease [RCV001174191]|not provided [RCV000725441]|not specified [RCV000341120] |
Chr11:68917891 [GRCh38]
Chr11:68685359 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642641]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003227706]|Charcot-Marie-Tooth disease [RCV000192261]|Charcot-Marie-Tooth disease axonal type 2S [RCV001808463] |
Chr11:68934517 [GRCh38]
Chr11:68701985 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.449+1G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003765161]|Charcot-Marie-Tooth disease axonal type 2S [RCV000240669]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789355]|Peripheral neuropathy [RCV001836746] |
Chr11:68908338 [GRCh38]
Chr11:68675806 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2784+1G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001852432]|Charcot-Marie-Tooth disease [RCV000192264] |
Chr11:68938355 [GRCh38]
Chr11:68705823 [GRCh37]
Chr11:11q13.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001088877]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001112397]|Inborn genetic diseases [RCV002404328]|not provided [RCV000766761]|not specified [RCV000517070] |
Chr11:68935335 [GRCh38]
Chr11:68702803 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000543729] |
Chr11:68936926 [GRCh38]
Chr11:68704394 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000545267]|Inborn genetic diseases [RCV002448708] |
Chr11:68936775 [GRCh38]
Chr11:68704243 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001064896] |
Chr11:68908563 [GRCh38]
Chr11:68676031 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2440C>A (p.Gln814Lys) |
single nucleotide variant |
not provided [RCV000756267] |
Chr11:68936920 [GRCh38]
Chr11:68704388 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001426123]|Inborn genetic diseases [RCV002422637]|not provided [RCV000756268] |
Chr11:68929193 [GRCh38]
Chr11:68696661 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642614]|Inborn genetic diseases [RCV002450649]|not provided [RCV000220132] |
Chr11:68929270 [GRCh38]
Chr11:68696738 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001238058]|not provided [RCV000218079] |
Chr11:68936393 [GRCh38]
Chr11:68703861 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000296226]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000792933]|Inborn genetic diseases [RCV002444872]|not provided [RCV000222500] |
Chr11:68914968 [GRCh38]
Chr11:68682436 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000407593]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001079219]|Charcot-Marie-Tooth disease [RCV001173579]|IGHMBP2-related condition [RCV003955289]|Inborn genetic diseases [RCV002338693]|not provided [RCV000726894] |
Chr11:68929315 [GRCh38]
Chr11:68696783 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000400759]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000532451]|Charcot-Marie-Tooth disease [RCV001173344]|Inborn genetic diseases [RCV002433941]|not provided [RCV001722203] |
Chr11:68939621 [GRCh38]
Chr11:68707089 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1346del (p.Met449fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000235043] |
Chr11:68933409 [GRCh38]
Chr11:68700877 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001226844]|not provided [RCV000221451] |
Chr11:68935420 [GRCh38]
Chr11:68702888 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001059408]|Distal spinal muscular atrophy [RCV000221711]|IGHMBP2-related disorders [RCV003335233]|not provided [RCV000482426] |
Chr11:68906109 [GRCh38]
Chr11:68673577 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2429C>T (p.Pro810Leu) |
single nucleotide variant |
not provided [RCV000215141] |
Chr11:68936909 [GRCh38]
Chr11:68704377 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.905A>G (p.Gln302Arg) |
single nucleotide variant |
not provided [RCV000216990] |
Chr11:68915016 [GRCh38]
Chr11:68682484 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000235082]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000539394]|Charcot-Marie-Tooth disease [RCV001172566]|Charcot-Marie-Tooth disease axonal type 2S [RCV000780353]|Inborn genetic diseases [RCV002390588]|Neurodevelopmental disorder [RCV002277579]|not provided [RCV000219401] |
Chr11:68933864 [GRCh38]
Chr11:68701332 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.548-10T>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000266650]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001084295]|Charcot-Marie-Tooth disease [RCV001172567]|IGHMBP2-related condition [RCV003891800]|not provided [RCV000224372] |
Chr11:68911430 [GRCh38]
Chr11:68678898 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000557414]|Charcot-Marie-Tooth disease [RCV001173328]|Charcot-Marie-Tooth disease axonal type 2S [RCV003235149]|Distal spinal muscular atrophy [RCV000790280]|not provided [RCV000224756] |
Chr11:68936288 [GRCh38]
Chr11:68703756 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000240667]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000693518]|Charcot-Marie-Tooth disease axonal type 2S [RCV000240662]|Inborn genetic diseases [RCV002390539]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789340]|not provided [RCV000223974] |
Chr11:68933854 [GRCh38]
Chr11:68701322 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000235087] |
Chr11:68929315 [GRCh38]
Chr11:68696783 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000551552]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001112400]|Charcot-Marie-Tooth disease [RCV001173562]|Inborn genetic diseases [RCV002411069]|not provided [RCV000235293] |
Chr11:68936324 [GRCh38]
Chr11:68703792 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1789A>T (p.Ile597Phe) |
single nucleotide variant |
not provided [RCV000235550] |
Chr11:68936269 [GRCh38]
Chr11:68703737 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000677264]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001244709]|not provided [RCV000235493] |
Chr11:68934542 [GRCh38]
Chr11:68702010 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1849G>A (p.Val617Ile) |
single nucleotide variant |
not provided [RCV000235564] |
Chr11:68936329 [GRCh38]
Chr11:68703797 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000696905]|Inborn genetic diseases [RCV002392735]|not provided [RCV000235714]|not specified [RCV000790913] |
Chr11:68914872 [GRCh38]
Chr11:68682340 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1060+2T>C |
single nucleotide variant |
not provided [RCV000235641] |
Chr11:68917885 [GRCh38]
Chr11:68685353 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001035979]|not provided [RCV000235796] |
Chr11:68936613 [GRCh38]
Chr11:68704081 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000348006]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001082293]|Charcot-Marie-Tooth disease [RCV001173331]|Inborn genetic diseases [RCV002450728]|not provided [RCV000514865] |
Chr11:68936840 [GRCh38]
Chr11:68704308 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000547188]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001110520]|Inborn genetic diseases [RCV002444933]|not provided [RCV000235815] |
Chr11:68936849 [GRCh38]
Chr11:68704317 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000302297]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001857803]|Charcot-Marie-Tooth disease [RCV001173575]|not provided [RCV000235918] |
Chr11:68908269 [GRCh38]
Chr11:68675737 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000763763]|Inborn genetic diseases [RCV002379045]|not provided [RCV000236000] |
Chr11:68933358 [GRCh38]
Chr11:68700826 [GRCh37]
Chr11:11q13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.1933G>A (p.Asp645Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000704564]|not provided [RCV000236157] |
Chr11:68936413 [GRCh38]
Chr11:68703881 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000538255]|Charcot-Marie-Tooth disease [RCV001174202]|Inborn genetic diseases [RCV002436051]|not specified [RCV000236159] |
Chr11:68939585 [GRCh38]
Chr11:68707053 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000544728]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002272190]|Charcot-Marie-Tooth disease [RCV001027460]|Charcot-Marie-Tooth disease axonal type 2S [RCV002265708]|Distal spinal muscular atrophy [RCV000790269]|Inborn genetic diseases [RCV002429143]|not provided [RCV000236185] |
Chr11:68929204 [GRCh38]
Chr11:68696672 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.2573A>G (p.Gln858Arg) |
single nucleotide variant |
not provided [RCV000236227] |
Chr11:68937053 [GRCh38]
Chr11:68704521 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001332102]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003765468]|Charcot-Marie-Tooth disease axonal type 2S [RCV003330603]|not provided [RCV000236280] |
Chr11:68935403 [GRCh38]
Chr11:68702871 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.657G>T (p.Gly219=) |
single nucleotide variant |
not provided [RCV000236384] |
Chr11:68911549 [GRCh38]
Chr11:68679017 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001246118]|Inborn genetic diseases [RCV002379047]|not provided [RCV000236419] |
Chr11:68914847 [GRCh38]
Chr11:68682315 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.856C>T (p.Arg286Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000802136]|not provided [RCV000236339] |
Chr11:68914967 [GRCh38]
Chr11:68682435 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.208A>G (p.Arg70Gly) |
single nucleotide variant |
not provided [RCV000236586] |
Chr11:68906190 [GRCh38]
Chr11:68673658 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000819702]|Inborn genetic diseases [RCV002418044]|not provided [RCV000727325] |
Chr11:68936570 [GRCh38]
Chr11:68704038 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000292250]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000556244]|Charcot-Marie-Tooth disease [RCV001173347]|Inborn genetic diseases [RCV002436064]|not provided [RCV000236700] |
Chr11:68939586 [GRCh38]
Chr11:68707054 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000533172]|Inborn genetic diseases [RCV002518422]|not provided [RCV000236775] |
Chr11:68929230 [GRCh38]
Chr11:68696698 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000688967]|Inborn genetic diseases [RCV002429153]|not provided [RCV000236874] |
Chr11:68937034 [GRCh38]
Chr11:68704502 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000532649]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001109737]|Inborn genetic diseases [RCV002429144]|not provided [RCV000726111] |
Chr11:68936656 [GRCh38]
Chr11:68704124 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001854862]|Inborn genetic diseases [RCV002436059]|not provided [RCV000236864] |
Chr11:68908172 [GRCh38]
Chr11:68675640 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000376875]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001089049]|Inborn genetic diseases [RCV002429148]|not provided [RCV000236947] |
Chr11:68938244 [GRCh38]
Chr11:68705712 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.575T>A (p.Leu192Gln) |
single nucleotide variant |
not provided [RCV000237068] |
Chr11:68911467 [GRCh38]
Chr11:68678935 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000795152]|Inborn genetic diseases [RCV002456274]|not provided [RCV000578974] |
Chr11:68936848 [GRCh38]
Chr11:68704316 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001859559]|not provided [RCV000398288] |
Chr11:68937040 [GRCh38]
Chr11:68704508 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000392601]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001079311]|Charcot-Marie-Tooth disease [RCV001173359]|not provided [RCV000712263]|not specified [RCV000250921] |
Chr11:68906162 [GRCh38]
Chr11:68673630 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000576695]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001520687]|Charcot-Marie-Tooth disease [RCV001172590]|Charcot-Marie-Tooth disease axonal type 2S [RCV001729492]|not provided [RCV001640520]|not specified [RCV000246174] |
Chr11:68904009 [GRCh38]
Chr11:68671477 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2155G>A (p.Gly719Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000814292]|not provided [RCV000521025] |
Chr11:68936635 [GRCh38]
Chr11:68704103 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1757-18C>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002058101]|not specified [RCV000246395] |
Chr11:68936219 [GRCh38]
Chr11:68703687 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.*22C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001110601]|not specified [RCV000248767] |
Chr11:68939753 [GRCh38]
Chr11:68707221 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000576392]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001520689]|Charcot-Marie-Tooth disease [RCV001173356]|Charcot-Marie-Tooth disease axonal type 2S [RCV001729489]|not provided [RCV001711688]|not specified [RCV000241691] |
Chr11:68936491 [GRCh38]
Chr11:68703959 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000873173]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001112494]|Charcot-Marie-Tooth disease [RCV001172575]|Inborn genetic diseases [RCV002429187]|not provided [RCV001705362]|not specified [RCV000248917] |
Chr11:68937025 [GRCh38]
Chr11:68704493 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002180.3(IGHMBP2):c.1538-8C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000368667]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001086065]|not provided [RCV000829332]|not specified [RCV000248990] |
Chr11:68934456 [GRCh38]
Chr11:68701924 [GRCh37]
Chr11:11q13.3 |
benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000277574]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000560522]|Inborn genetic diseases [RCV002450775]|not specified [RCV000244321] |
Chr11:68937012 [GRCh38]
Chr11:68704480 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.1418+18A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002058099]|Charcot-Marie-Tooth disease [RCV001173362]|not provided [RCV001668478]|not specified [RCV000249077] |
Chr11:68933499 [GRCh38]
Chr11:68700967 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000625146]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001082951]|Charcot-Marie-Tooth disease [RCV001173578]|IGHMBP2-related condition [RCV003891901]|not provided [RCV000513582]|not specified [RCV000254044] |
Chr11:68906133 [GRCh38]
Chr11:68673601 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2259C>T (p.His753=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001489344]|Inborn genetic diseases [RCV002446487]|not specified [RCV000241998] |
Chr11:68936739 [GRCh38]
Chr11:68704207 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.-2C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000613432]|Charcot-Marie-Tooth disease [RCV001172589]|Charcot-Marie-Tooth disease axonal type 2S [RCV001729487]|not provided [RCV000712266]|not specified [RCV000251714] |
Chr11:68903951 [GRCh38]
Chr11:68671419 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000288957]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000554374]|Charcot-Marie-Tooth disease [RCV001173369]|not provided [RCV000712264]|not specified [RCV000244618] |
Chr11:68938352 [GRCh38]
Chr11:68705820 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000576865]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001520690]|Charcot-Marie-Tooth disease [RCV001173357]|Charcot-Marie-Tooth disease axonal type 2S [RCV001729491]|not provided [RCV001675716]|not specified [RCV000246964] |
Chr11:68936796 [GRCh38]
Chr11:68704264 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000576600]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001514631]|Charcot-Marie-Tooth disease [RCV001173354]|Charcot-Marie-Tooth disease axonal type 2S [RCV001729490]|not provided [RCV001636771]|not specified [RCV000247088] |
Chr11:68936560 [GRCh38]
Chr11:68704028 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000576847]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001514630]|Charcot-Marie-Tooth disease [RCV001173353]|Charcot-Marie-Tooth disease axonal type 2S [RCV001729488]|not provided [RCV001651164]|not specified [RCV000254390] |
Chr11:68934480 [GRCh38]
Chr11:68701948 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000299760]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000545836]|Charcot-Marie-Tooth disease [RCV001173374]|IGHMBP2-related condition [RCV003891903]|not provided [RCV001699414]|not specified [RCV000249568] |
Chr11:68939728 [GRCh38]
Chr11:68707196 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000552218]|Charcot-Marie-Tooth disease [RCV001173582]|not provided [RCV001812710]|not specified [RCV000252035] |
Chr11:68906205 [GRCh38]
Chr11:68673673 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000576508]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001514629]|Charcot-Marie-Tooth disease [RCV001173352]|Charcot-Marie-Tooth disease axonal type 2S [RCV001729494]|not provided [RCV001636772]|not specified [RCV000244835] |
Chr11:68914934 [GRCh38]
Chr11:68682402 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.87-19A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002058102]|Charcot-Marie-Tooth disease [RCV001172584]|not specified [RCV000249860] |
Chr11:68906050 [GRCh38]
Chr11:68673518 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000372286]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000526636]|Charcot-Marie-Tooth disease [RCV001173373]|IGHMBP2-related condition [RCV003891902]|Inborn genetic diseases [RCV002411118]|not provided [RCV001651165] |
Chr11:68936307 [GRCh38]
Chr11:68703775 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000318937]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000555689]|Charcot-Marie-Tooth disease [RCV001173363]|not provided [RCV001711687]|not specified [RCV000250041] |
Chr11:68936419 [GRCh38]
Chr11:68703887 [GRCh37]
Chr11:11q13.3 |
benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1821C>T (p.His607=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000560072]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001112399]|Charcot-Marie-Tooth disease [RCV001172576]|Inborn genetic diseases [RCV002411117]|not provided [RCV001705361]|not specified [RCV000242922] |
Chr11:68936301 [GRCh38]
Chr11:68703769 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) |
microsatellite |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000240663]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000793527]|Charcot-Marie-Tooth disease [RCV000856966]|Charcot-Marie-Tooth disease axonal type 2S [RCV000240655]|IGHMBP2-related disorders [RCV003335195]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789980]|not provided [RCV002284373] |
Chr11:68917801..68917805 [GRCh38]
Chr11:68685269..68685273 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000240656]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000810966]|Inborn genetic diseases [RCV000624850] |
Chr11:68903954 [GRCh38]
Chr11:68671422 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.1538-20C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002058100]|Charcot-Marie-Tooth disease [RCV001173358]|not provided [RCV001636770]|not specified [RCV000245668] |
Chr11:68934444 [GRCh38]
Chr11:68701912 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000576822]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001520688]|Charcot-Marie-Tooth disease [RCV001173351]|Charcot-Marie-Tooth disease axonal type 2S [RCV001729493]|not provided [RCV001711806]|not specified [RCV000248264] |
Chr11:68911494 [GRCh38]
Chr11:68678962 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.*255T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000303046]|not provided [RCV001711783] |
Chr11:68939986 [GRCh38]
Chr11:68707454 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000323396]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001070291]|not provided [RCV000506964] |
Chr11:68938323 [GRCh38]
Chr11:68705791 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.2(IGHMBP2):c.-68T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000345820] |
Chr11:68903885 [GRCh38]
Chr11:68671353 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000370106]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000642650]|Charcot-Marie-Tooth disease [RCV001172574]|Inborn genetic diseases [RCV002450852]|not provided [RCV002225583] |
Chr11:68936947 [GRCh38]
Chr11:68704415 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.*417C>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000267930] |
Chr11:68940148 [GRCh38]
Chr11:68707616 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.*466G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000271607] |
Chr11:68940197 [GRCh38]
Chr11:68707665 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.714T>C (p.Val238=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000270257]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000907808] |
Chr11:68914825 [GRCh38]
Chr11:68682293 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000287365]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002056236]|Inborn genetic diseases [RCV002429255]|not provided [RCV003133219] |
Chr11:68936704 [GRCh38]
Chr11:68704172 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000378372]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000801270] |
Chr11:68936674 [GRCh38]
Chr11:68704142 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000402191]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000553046]|Charcot-Marie-Tooth disease [RCV001173583]|Inborn genetic diseases [RCV002446557]|not specified [RCV000420667] |
Chr11:68936802 [GRCh38]
Chr11:68704270 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000272994]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001038339]|Charcot-Marie-Tooth disease [RCV001173568]|Inborn genetic diseases [RCV002379180] |
Chr11:68933403 [GRCh38]
Chr11:68700871 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.-4G>A |
single nucleotide variant |
Spinal muscular atrophy [RCV000291840] |
Chr11:68903949 [GRCh38]
Chr11:68671417 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*427C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000382495] |
Chr11:68940158 [GRCh38]
Chr11:68707626 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.-28C>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000383947]|not specified [RCV000437926] |
Chr11:68903925 [GRCh38]
Chr11:68671393 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.*665C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000294061] |
Chr11:68940396 [GRCh38]
Chr11:68707864 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.*648G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000386099] |
Chr11:68940379 [GRCh38]
Chr11:68707847 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000314459]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000864886]|Inborn genetic diseases [RCV002436150] |
Chr11:68939632 [GRCh38]
Chr11:68707100 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000295254]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001081103]|Charcot-Marie-Tooth disease [RCV001173561]|Inborn genetic diseases [RCV002392841]|not provided [RCV000839297] |
Chr11:68906085 [GRCh38]
Chr11:68673553 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.*744G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000278935] |
Chr11:68940475 [GRCh38]
Chr11:68707943 [GRCh37]
Chr11:11q13.3 |
benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000338066]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000531307]|Charcot-Marie-Tooth disease [RCV001173563]|Inborn genetic diseases [RCV002338881]|not provided [RCV001509408] |
Chr11:68917838 [GRCh38]
Chr11:68685306 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000361659]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000642649]|Charcot-Marie-Tooth disease [RCV001173581]|Inborn genetic diseases [RCV002436147]|not provided [RCV000615491] |
Chr11:68929247 [GRCh38]
Chr11:68696715 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000365010]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000533786]|Charcot-Marie-Tooth disease [RCV001174189]|Inborn genetic diseases [RCV002379179]|not provided [RCV001310974] |
Chr11:68933353 [GRCh38]
Chr11:68700821 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.*692A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000389623] |
Chr11:68940423 [GRCh38]
Chr11:68707891 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000297508]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000536713]|Charcot-Marie-Tooth disease [RCV001172588]|Inborn genetic diseases [RCV002429256]|not specified [RCV000443898] |
Chr11:68937012 [GRCh38]
Chr11:68704480 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.222C>A (p.Ser74=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000298618]|Inborn genetic diseases [RCV002429254] |
Chr11:68906204 [GRCh38]
Chr11:68673672 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000319866]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000536432]|Inborn genetic diseases [RCV002450853]|not provided [RCV002291616] |
Chr11:68938216 [GRCh38]
Chr11:68705684 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*117G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000264249] |
Chr11:68939848 [GRCh38]
Chr11:68707316 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000280733]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003765801]|Inborn genetic diseases [RCV002374521] |
Chr11:68917786 [GRCh38]
Chr11:68685254 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.366C>T (p.His122=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000392598]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000545523]|Charcot-Marie-Tooth disease [RCV001173370]|Inborn genetic diseases [RCV002450851]|not specified [RCV000442293] |
Chr11:68908254 [GRCh38]
Chr11:68675722 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000392458]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002056237]|Inborn genetic diseases [RCV002446559] |
Chr11:68936841 [GRCh38]
Chr11:68704309 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000282819]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002520754]|Inborn genetic diseases [RCV002418155] |
Chr11:68936520 [GRCh38]
Chr11:68703988 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000346278]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002520757]|Inborn genetic diseases [RCV002520756] |
Chr11:68939536 [GRCh38]
Chr11:68707004 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001218066]|Inborn genetic diseases [RCV002436113]|not provided [RCV000277193] |
Chr11:68939567 [GRCh38]
Chr11:68707035 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*425G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000325602] |
Chr11:68940156 [GRCh38]
Chr11:68707624 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001443493]|Inborn genetic diseases [RCV002401992]|not provided [RCV000512971]|not specified [RCV000383801] |
Chr11:68935403 [GRCh38]
Chr11:68702871 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000327712]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003765800]|Inborn genetic diseases [RCV002379177] |
Chr11:68914837 [GRCh38]
Chr11:68682305 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000349487]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001444386]|Inborn genetic diseases [RCV002436149] |
Chr11:68939605 [GRCh38]
Chr11:68707073 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.912+4G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000398405] |
Chr11:68915027 [GRCh38]
Chr11:68682495 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000308054]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001397488]|Inborn genetic diseases [RCV002338882] |
Chr11:68929316 [GRCh38]
Chr11:68696784 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.*648G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000329037]|not provided [RCV003221901] |
Chr11:68940379 [GRCh38]
Chr11:68707847 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000330441]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001086737]|Charcot-Marie-Tooth disease [RCV001173336]|Inborn genetic diseases [RCV002392842]|not provided [RCV000479567] |
Chr11:68933798 [GRCh38]
Chr11:68701266 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000309657]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000529178]|Charcot-Marie-Tooth disease [RCV001174186]|Inborn genetic diseases [RCV002446558]|not provided [RCV001171658] |
Chr11:68936835 [GRCh38]
Chr11:68704303 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001218954]|Charcot-Marie-Tooth disease axonal type 2S [RCV001548775]|not provided [RCV000352189] |
Chr11:68937077..68937078 [GRCh38]
Chr11:68704545..68704546 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000534317]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001111836]|Charcot-Marie-Tooth disease [RCV001174199]|IGHMBP2-related condition [RCV003949908]|Inborn genetic diseases [RCV002450825]|not provided [RCV001718585]|not specified [RCV000390927] |
Chr11:68908232 [GRCh38]
Chr11:68675700 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002180.3(IGHMBP2):c.*681T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000332785] |
Chr11:68940412 [GRCh38]
Chr11:68707880 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2612-15G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000354662]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002520755]|Charcot-Marie-Tooth disease [RCV001172582]|not specified [RCV000422959] |
Chr11:68938167 [GRCh38]
Chr11:68705635 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs) |
indel |
not provided [RCV000362858] |
Chr11:68936677..68936683 [GRCh38]
Chr11:68704145..68704151 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000334725]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000554904]|Inborn genetic diseases [RCV002374520] |
Chr11:68915012 [GRCh38]
Chr11:68682480 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.*6C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000356883]|Charcot-Marie-Tooth disease [RCV001172570]|not provided [RCV001705455] |
Chr11:68939737 [GRCh38]
Chr11:68707205 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000381031]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000541754]|Inborn genetic diseases [RCV002436148]|not provided [RCV002251463] |
Chr11:68938325 [GRCh38]
Chr11:68705793 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2683A>G (p.Asn895Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000266015] |
Chr11:68938253 [GRCh38]
Chr11:68705721 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000384632]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000535046]|Charcot-Marie-Tooth disease [RCV001173371]|IGHMBP2-related condition [RCV003920262]|Inborn genetic diseases [RCV002379178]|not specified [RCV000422254] |
Chr11:68914837 [GRCh38]
Chr11:68682305 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000819925]|not provided [RCV000596478] |
Chr11:68917883 [GRCh38]
Chr11:68685351 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000539604]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001109735]|Inborn genetic diseases [RCV002418127]|not provided [RCV001705432]|not specified [RCV000330471] |
Chr11:68936571 [GRCh38]
Chr11:68704039 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002180.3(IGHMBP2):c.696G>T (p.Val232=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000362514]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003765799]|Inborn genetic diseases [RCV002365353] |
Chr11:68911588 [GRCh38]
Chr11:68679056 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000280189]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001859825]|not provided [RCV003226919] |
Chr11:68936354 [GRCh38]
Chr11:68703822 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2295C>T (p.His765=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000876257]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001109739]|Charcot-Marie-Tooth disease [RCV001172572]|Inborn genetic diseases [RCV002446520]|not specified [RCV000334940] |
Chr11:68936775 [GRCh38]
Chr11:68704243 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001368402] |
Chr11:68938223 [GRCh38]
Chr11:68705691 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| GRCh37/hg19 11q13.3(chr11:68682291-68682491)x1 |
copy number loss |
not provided [RCV003312215] |
Chr11:68682291..68682491 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001083586]|Charcot-Marie-Tooth disease [RCV001173342]|Inborn genetic diseases [RCV002404282]|not provided [RCV000489846]|not specified [RCV002222528] |
Chr11:68906147 [GRCh38]
Chr11:68673615 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000811896]|Charcot-Marie-Tooth disease [RCV001173335]|Inborn genetic diseases [RCV002438190]|not provided [RCV000488186] |
Chr11:68939618 [GRCh38]
Chr11:68707086 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2975G>A (p.Gly992Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000399991] |
Chr11:68939724 [GRCh38]
Chr11:68707192 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642626]|not provided [RCV000520882] |
Chr11:68936246 [GRCh38]
Chr11:68703714 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1587T>G (p.Gly529=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000333997]|Inborn genetic diseases [RCV002402018] |
Chr11:68934513 [GRCh38]
Chr11:68701981 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.*788C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000336376] |
Chr11:68940519 [GRCh38]
Chr11:68707987 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000529802]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001112396]|Charcot-Marie-Tooth disease [RCV001173580]|Inborn genetic diseases [RCV002395397]|not provided [RCV001722485] |
Chr11:68934477 [GRCh38]
Chr11:68701945 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.-49G>C |
single nucleotide variant |
not specified [RCV000603921] |
Chr11:68903904 [GRCh38]
Chr11:68671372 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.345G>A (p.Thr115=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002064199]|Inborn genetic diseases [RCV002456381]|not specified [RCV000605202] |
Chr11:68908233 [GRCh38]
Chr11:68675701 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.547+9T>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000359413]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001472566] |
Chr11:68908640 [GRCh38]
Chr11:68676108 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.*415G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000360181] |
Chr11:68940146 [GRCh38]
Chr11:68707614 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642652]|Inborn genetic diseases [RCV002404601]|not specified [RCV000598432] |
Chr11:68934507 [GRCh38]
Chr11:68701975 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001447445]|Inborn genetic diseases [RCV002395524]|not provided [RCV000591965] |
Chr11:68933461 [GRCh38]
Chr11:68700929 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642633]|Charcot-Marie-Tooth disease [RCV000856975]|Distal spinal muscular atrophy [RCV000790272]|not provided [RCV000578618] |
Chr11:68936293 [GRCh38]
Chr11:68703761 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1826C>A (p.Ala609Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000550500]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789973] |
Chr11:68936306 [GRCh38]
Chr11:68703774 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.815T>C (p.Leu272Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000554099] |
Chr11:68914926 [GRCh38]
Chr11:68682394 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1202A>G (p.His401Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2S [RCV000768428] |
Chr11:68929324 [GRCh38]
Chr11:68696792 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001113652]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001461687]|Inborn genetic diseases [RCV000623646]|not provided [RCV000886775] |
Chr11:68914972 [GRCh38]
Chr11:68682440 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001495356]|Inborn genetic diseases [RCV002438539]|not provided [RCV000593798] |
Chr11:68939617 [GRCh38]
Chr11:68707085 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1562A>G (p.His521Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000554835] |
Chr11:68934488 [GRCh38]
Chr11:68701956 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1235+894C>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003767835]|Charcot-Marie-Tooth disease axonal type 2S [RCV000626052]|not provided [RCV002225695] |
Chr11:68930251 [GRCh38]
Chr11:68697719 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.1932C>T (p.Asp644=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642657]|Inborn genetic diseases [RCV002413754]|not specified [RCV000605688] |
Chr11:68936412 [GRCh38]
Chr11:68703880 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2458A>G (p.Arg820Gly) |
single nucleotide variant |
not provided [RCV000730696] |
Chr11:68936938 [GRCh38]
Chr11:68704406 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.242del (p.Asn81fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001383707]|not provided [RCV000728520] |
Chr11:68906223 [GRCh38]
Chr11:68673691 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642627]|not provided [RCV000595530] |
Chr11:68929228 [GRCh38]
Chr11:68696696 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000702154]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000754728]|Hammertoe [RCV000415346] |
Chr11:68906163 [GRCh38]
Chr11:68673631 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000559739]|Charcot-Marie-Tooth disease [RCV001173576]|Inborn genetic diseases [RCV002431624]|not provided [RCV001837952] |
Chr11:68936878 [GRCh38]
Chr11:68704346 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1843C>T (p.Arg615Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000538929]|not provided [RCV001509413] |
Chr11:68936323 [GRCh38]
Chr11:68703791 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1208A>G (p.Gln403Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000537503] |
Chr11:68929330 [GRCh38]
Chr11:68696798 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.547+1G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642629]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000754569]|not provided [RCV000412903] |
Chr11:68908632 [GRCh38]
Chr11:68676100 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002521458]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003987526]|Charcot-Marie-Tooth disease [RCV000789659]|Hammertoe [RCV000415032] |
Chr11:68917781 [GRCh38]
Chr11:68685249 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1418+11C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002061406]|Charcot-Marie-Tooth disease [RCV001172568]|not specified [RCV000441387] |
Chr11:68933492 [GRCh38]
Chr11:68700960 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.548-20C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002062516]|Charcot-Marie-Tooth disease [RCV001172585]|not specified [RCV000444910] |
Chr11:68911420 [GRCh38]
Chr11:68678888 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.912+3A>G |
single nucleotide variant |
not provided [RCV000522750] |
Chr11:68915026 [GRCh38]
Chr11:68682494 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000542583]|Charcot-Marie-Tooth disease [RCV001173339]|not provided [RCV000424250] |
Chr11:68914988 [GRCh38]
Chr11:68682456 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642661]|IGHMBP2-related condition [RCV003922708]|Inborn genetic diseases [RCV002436248]|not provided [RCV001705574] |
Chr11:68908164 [GRCh38]
Chr11:68675632 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000757398]|Charcot-Marie-Tooth disease [RCV001172586]|Inborn genetic diseases [RCV002402171]|not provided [RCV003311813]|not specified [RCV000441956] |
Chr11:68936250 [GRCh38]
Chr11:68703718 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000680011]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001218953]|Charcot-Marie-Tooth disease [RCV000856973]|Distal spinal muscular atrophy [RCV000790274] |
Chr11:68935374 [GRCh38]
Chr11:68702842 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000703580]|not provided [RCV000442407] |
Chr11:68914941 [GRCh38]
Chr11:68682409 [GRCh37]
Chr11:11q13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001088757]|Charcot-Marie-Tooth disease [RCV001172581]|Inborn genetic diseases [RCV002450981]|not provided [RCV000756266]|not specified [RCV000428487] |
Chr11:68938261 [GRCh38]
Chr11:68705729 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003766450]|Inborn genetic diseases [RCV002446753]|not specified [RCV000418876] |
Chr11:68906228 [GRCh38]
Chr11:68673696 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2784+7C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001113836]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002062515]|not specified [RCV000425087] |
Chr11:68938361 [GRCh38]
Chr11:68705829 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2344G>A (p.Val782Met) |
single nucleotide variant |
not provided [RCV000435464] |
Chr11:68936824 [GRCh38]
Chr11:68704292 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2612-13G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002059966]|not provided [RCV001698304] |
Chr11:68938169 [GRCh38]
Chr11:68705637 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000872848]|IGHMBP2-related condition [RCV003912736]|Inborn genetic diseases [RCV002460073]|not provided [RCV001712269] |
Chr11:68908250 [GRCh38]
Chr11:68675718 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001487103]|Inborn genetic diseases [RCV002411402]|not provided [RCV001810940]|not specified [RCV000432348] |
Chr11:68936394 [GRCh38]
Chr11:68703862 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1236-6G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002058974]|Charcot-Marie-Tooth disease [RCV000856970]|Inborn genetic diseases [RCV002365517]|not provided [RCV000550003] |
Chr11:68933293 [GRCh38]
Chr11:68700761 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.-25C>T |
single nucleotide variant |
not specified [RCV000439465] |
Chr11:68903928 [GRCh38]
Chr11:68671396 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2022G>A (p.Arg674=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001399677]|Inborn genetic diseases [RCV002418330]|not provided [RCV003884535]|not specified [RCV000422172] |
Chr11:68936502 [GRCh38]
Chr11:68703970 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1633-14G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002059727]|not specified [RCV000436056] |
Chr11:68935285 [GRCh38]
Chr11:68702753 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.273G>C (p.Leu91=) |
single nucleotide variant |
Inborn genetic diseases [RCV002436288]|not specified [RCV000436252] |
Chr11:68908161 [GRCh38]
Chr11:68675629 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000871155]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001109736]|Inborn genetic diseases [RCV002429427]|not provided [RCV001698230] |
Chr11:68936619 [GRCh38]
Chr11:68704087 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2145C>T (p.Gly715=) |
single nucleotide variant |
Inborn genetic diseases [RCV002429405]|not specified [RCV000429585] |
Chr11:68936625 [GRCh38]
Chr11:68704093 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2612-16C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002061635]|Charcot-Marie-Tooth disease [RCV001174185]|not specified [RCV000432975] |
Chr11:68938166 [GRCh38]
Chr11:68705634 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1236-10C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000952092]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001111940]|not specified [RCV000440173] |
Chr11:68933289 [GRCh38]
Chr11:68700757 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.-30G>C |
single nucleotide variant |
not specified [RCV000422866] |
Chr11:68903923 [GRCh38]
Chr11:68671391 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000757399]|Charcot-Marie-Tooth disease [RCV001173366]|IGHMBP2-related condition [RCV003922745]|Inborn genetic diseases [RCV002418265]|not provided [RCV001712368]|not specified [RCV000430376] |
Chr11:68936505 [GRCh38]
Chr11:68703973 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001488391]|Charcot-Marie-Tooth disease [RCV001172583]|Inborn genetic diseases [RCV002451034]|not provided [RCV000761791] |
Chr11:68938189 [GRCh38]
Chr11:68705657 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000757397]|Charcot-Marie-Tooth disease [RCV001174203]|not provided [RCV003311812]|not specified [RCV000434067] |
Chr11:68933357 [GRCh38]
Chr11:68700825 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.-34C>G |
single nucleotide variant |
not specified [RCV000437449] |
Chr11:68903919 [GRCh38]
Chr11:68671387 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.*3G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173367]|IGHMBP2-related condition [RCV003922746]|not provided [RCV001712369] |
Chr11:68939734 [GRCh38]
Chr11:68707202 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| GRCh37/hg19 11q13.3(chr11:68686958-69803426)x3 |
copy number gain |
See cases [RCV000448627] |
Chr11:68686958..69803426 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003114613]|not provided [RCV000479912] |
Chr11:68938274 [GRCh38]
Chr11:68705742 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001068853]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002248737]|Charcot-Marie-Tooth disease [RCV000856971]|Charcot-Marie-Tooth disease axonal type 2S [RCV000664228]|not specified [RCV000498809] |
Chr11:68933899 [GRCh38]
Chr11:68701367 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1 |
copy number loss |
See cases [RCV000510219] |
Chr11:67799160..70701268 [GRCh37]
Chr11:11q13.2-13.4 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001081674]|Charcot-Marie-Tooth disease [RCV001172569]|Inborn genetic diseases [RCV002404302]|not provided [RCV000733040] |
Chr11:68934529 [GRCh38]
Chr11:68701997 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001244708]|Charcot-Marie-Tooth disease [RCV000856968]|not specified [RCV000498252] |
Chr11:68929243 [GRCh38]
Chr11:68696711 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs) |
indel |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001332103]|Charcot-Marie-Tooth disease axonal type 2S [RCV003311828]|not provided [RCV000494030] |
Chr11:68908180..68908191 [GRCh38]
Chr11:68675648..68675659 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000705696]|Inborn genetic diseases [RCV002446986]|not specified [RCV000505881] |
Chr11:68936740 [GRCh38]
Chr11:68704208 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000531881]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001113753]|Inborn genetic diseases [RCV002420281]|not provided [RCV001591156]|not specified [RCV000505990] |
Chr11:68936506 [GRCh38]
Chr11:68703974 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2542C>T (p.Pro848Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001856957]|not provided [RCV000494475] |
Chr11:68937022 [GRCh38]
Chr11:68704490 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001368198]|Charcot-Marie-Tooth disease [RCV001173340]|Inborn genetic diseases [RCV002376941]|not provided [RCV001810993] |
Chr11:68917748 [GRCh38]
Chr11:68685216 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| NM_002180.3(IGHMBP2):c.10G>A (p.Ala4Thr) |
single nucleotide variant |
not specified [RCV000508117] |
Chr11:68903962 [GRCh38]
Chr11:68671430 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001087969]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001109641]|Charcot-Marie-Tooth disease [RCV001174193]|IGHMBP2-related condition [RCV003915567]|Inborn genetic diseases [RCV002413540]|not provided [RCV000727033] |
Chr11:68929186 [GRCh38]
Chr11:68696654 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642620]|Inborn genetic diseases [RCV002533263]|not provided [RCV003133437] |
Chr11:68939606 [GRCh38]
Chr11:68707074 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.760C>T (p.Arg254Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642624]|Inborn genetic diseases [RCV002388088] |
Chr11:68914871 [GRCh38]
Chr11:68682339 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642640] |
Chr11:68933426 [GRCh38]
Chr11:68700894 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1998C>T (p.Pro666=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642659]|Inborn genetic diseases [RCV002422313] |
Chr11:68936478 [GRCh38]
Chr11:68703946 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2769C>A (p.Ser923Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003258510] |
Chr11:68938339 [GRCh38]
Chr11:68705807 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003765465]|Hyperreflexia [RCV000584806] |
Chr11:68906074 [GRCh38]
Chr11:68673542 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000557849] |
Chr11:68933340 [GRCh38]
Chr11:68700808 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642621]|not provided [RCV001550284] |
Chr11:68933818 [GRCh38]
Chr11:68701286 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642631]|not provided [RCV003133439] |
Chr11:68933405 [GRCh38]
Chr11:68700873 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642637] |
Chr11:68933337 [GRCh38]
Chr11:68700805 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.2157A>G (p.Gly719=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642664]|Inborn genetic diseases [RCV002422314] |
Chr11:68936637 [GRCh38]
Chr11:68704105 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000558071]|Inborn genetic diseases [RCV002341342] |
Chr11:68903956 [GRCh38]
Chr11:68671424 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1938T>C (p.Ile646=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000539971]|Inborn genetic diseases [RCV002413543] |
Chr11:68936418 [GRCh38]
Chr11:68703886 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000806942]|Inborn genetic diseases [RCV000623030]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789338]|not provided [RCV000760313] |
Chr11:68908327 [GRCh38]
Chr11:68675795 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000541500]|not provided [RCV001783051] |
Chr11:68914902 [GRCh38]
Chr11:68682370 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.548-19G>T |
single nucleotide variant |
not specified [RCV000607426] |
Chr11:68911421 [GRCh38]
Chr11:68678889 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001397063]|Inborn genetic diseases [RCV002431746]|not provided [RCV000595184] |
Chr11:68938213 [GRCh38]
Chr11:68705681 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2978C>T (p.Thr993Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642615]|not provided [RCV003133436] |
Chr11:68939727 [GRCh38]
Chr11:68707195 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642623]|Charcot-Marie-Tooth disease axonal type 2S [RCV001823156]|not provided [RCV003133438] |
Chr11:68936302 [GRCh38]
Chr11:68703770 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys) |
inversion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642634] |
Chr11:68904009..68904010 [GRCh38]
Chr11:68671477..68671478 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.547C>T (p.His183Tyr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642619] |
Chr11:68908631 [GRCh38]
Chr11:68676099 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642625]|Charcot-Marie-Tooth disease [RCV000789971]|Charcot-Marie-Tooth disease, type I [RCV000856964] |
Chr11:68914845 [GRCh38]
Chr11:68682313 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642645]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001109738]|Inborn genetic diseases [RCV002449020] |
Chr11:68936766 [GRCh38]
Chr11:68704234 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1197C>T (p.Gly399=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642653] |
Chr11:68929319 [GRCh38]
Chr11:68696787 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.-14G>C |
single nucleotide variant |
not specified [RCV000609460] |
Chr11:68903939 [GRCh38]
Chr11:68671407 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1482C>T (p.Ala494=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000875066]|Inborn genetic diseases [RCV002395556]|not specified [RCV000612360] |
Chr11:68933858 [GRCh38]
Chr11:68701326 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1524G>C (p.Ser508=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002066857]|Inborn genetic diseases [RCV002395632]|not specified [RCV000612429] |
Chr11:68933900 [GRCh38]
Chr11:68701368 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1236-6G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001401020]|Inborn genetic diseases [RCV002377267]|not specified [RCV000601306] |
Chr11:68933293 [GRCh38]
Chr11:68700761 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001089366]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001113837]|Inborn genetic diseases [RCV002438568]|not provided [RCV000728433] |
Chr11:68939593 [GRCh38]
Chr11:68707061 [GRCh37]
Chr11:11q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.2499G>A (p.Leu833=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642654]|Charcot-Marie-Tooth disease [RCV001174190]|Inborn genetic diseases [RCV002431770]|not specified [RCV000615737] |
Chr11:68936979 [GRCh38]
Chr11:68704447 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1749C>T (p.Asn583=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001427478]|Inborn genetic diseases [RCV002404635]|not specified [RCV000609973] |
Chr11:68935415 [GRCh38]
Chr11:68702883 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002066831]|Inborn genetic diseases [RCV002448907]|not provided [RCV001719141] |
Chr11:68936874 [GRCh38]
Chr11:68704342 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2397C>T (p.Thr799=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002063166]|Inborn genetic diseases [RCV002456339]|not specified [RCV000612759] |
Chr11:68936877 [GRCh38]
Chr11:68704345 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000625148]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003767833]|Distal spinal muscular atrophy [RCV000789658]|not provided [RCV001700268] |
Chr11:68915015 [GRCh38]
Chr11:68682483 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001224658]|not provided [RCV003133395]|not specified [RCV000612991] |
Chr11:68938238 [GRCh38]
Chr11:68705706 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1137G>A (p.Gln379=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003767646]|Inborn genetic diseases [RCV002325170]|not specified [RCV000613244] |
Chr11:68929259 [GRCh38]
Chr11:68696727 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1756+13C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003767512]|not specified [RCV000610610] |
Chr11:68935435 [GRCh38]
Chr11:68702903 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001436735]|Charcot-Marie-Tooth disease [RCV001174192]|IGHMBP2-related condition [RCV003962819]|Inborn genetic diseases [RCV002395613]|not specified [RCV000610692] |
Chr11:68917855 [GRCh38]
Chr11:68685323 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1923G>A (p.Glu641=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002532744]|Inborn genetic diseases [RCV002413729]|not specified [RCV000616671] |
Chr11:68936403 [GRCh38]
Chr11:68703871 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2612-14C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001868035]|Charcot-Marie-Tooth disease [RCV001172587]|not specified [RCV000610962] |
Chr11:68938168 [GRCh38]
Chr11:68705636 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.672G>A (p.Val224=) |
single nucleotide variant |
not specified [RCV000611102] |
Chr11:68911564 [GRCh38]
Chr11:68679032 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001084898]|IGHMBP2-related condition [RCV003915568]|Inborn genetic diseases [RCV002448709]|not provided [RCV000712267] |
Chr11:68908192 [GRCh38]
Chr11:68675660 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002180.3(IGHMBP2):c.1632+4C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000811336]|IGHMBP2-related condition [RCV003905609]|Inborn genetic diseases [RCV002404641]|not provided [RCV001509411] |
Chr11:68934562 [GRCh38]
Chr11:68702030 [GRCh37]
Chr11:11q13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002180.3(IGHMBP2):c.1241C>T (p.Ala414Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642616] |
Chr11:68933304 [GRCh38]
Chr11:68700772 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2912G>A (p.Arg971Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642617] |
Chr11:68939661 [GRCh38]
Chr11:68707129 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642618]|not provided [RCV001090414] |
Chr11:68936294 [GRCh38]
Chr11:68703762 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642622]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001111834]|not provided [RCV001090410] |
Chr11:68906199 [GRCh38]
Chr11:68673667 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.154G>C (p.Val52Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642638] |
Chr11:68906136 [GRCh38]
Chr11:68673604 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2550C>T (p.Ser850=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642639]|Inborn genetic diseases [RCV002424453] |
Chr11:68937030 [GRCh38]
Chr11:68704498 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.711+8G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642647] |
Chr11:68911611 [GRCh38]
Chr11:68679079 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.954T>C (p.Asn318=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642644]|not specified [RCV000609333] |
Chr11:68917777 [GRCh38]
Chr11:68685245 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.449+1G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642630]|Charcot-Marie-Tooth disease axonal type 2S [RCV001336445] |
Chr11:68908338 [GRCh38]
Chr11:68675806 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642628] |
Chr11:68906148 [GRCh38]
Chr11:68673616 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001860471]|Charcot-Marie-Tooth disease axonal type 2S [RCV000626051]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789978]|not provided [RCV003133413] |
Chr11:68935396 [GRCh38]
Chr11:68702864 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.*4G>A |
single nucleotide variant |
not provided [RCV000513382] |
Chr11:68939735 [GRCh38]
Chr11:68707203 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642632]|Inborn genetic diseases [RCV002424452]|not provided [RCV001571013] |
Chr11:68938241 [GRCh38]
Chr11:68705709 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1888T>C (p.Phe630Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642635] |
Chr11:68936368 [GRCh38]
Chr11:68703836 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642636]|Charcot-Marie-Tooth disease [RCV001027461]|not provided [RCV002461951] |
Chr11:68929320 [GRCh38]
Chr11:68696788 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642655]|Inborn genetic diseases [RCV002424454]|not specified [RCV001001919] |
Chr11:68906204 [GRCh38]
Chr11:68673672 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2611+7C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642656] |
Chr11:68937098 [GRCh38]
Chr11:68704566 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1060+10C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642658]|not provided [RCV001811135] |
Chr11:68917893 [GRCh38]
Chr11:68685361 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2976G>A (p.Gly992=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000642660]|Inborn genetic diseases [RCV002440295]|not provided [RCV003334000] |
Chr11:68939725 [GRCh38]
Chr11:68707193 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.286A>G (p.Asn96Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000686328] |
Chr11:68908174 [GRCh38]
Chr11:68675642 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.204G>T (p.Glu68Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000700795] |
Chr11:68906186 [GRCh38]
Chr11:68673654 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1418+1G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000677267] |
Chr11:68933482 [GRCh38]
Chr11:68700950 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001861693]|not provided [RCV000658282] |
Chr11:68906149 [GRCh38]
Chr11:68673617 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.688C>G (p.Gln230Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000677234] |
Chr11:68911580 [GRCh38]
Chr11:68679048 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1720G>A (p.Ala574Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000677250] |
Chr11:68935386 [GRCh38]
Chr11:68702854 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.200T>C (p.Phe67Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000677257] |
Chr11:68906182 [GRCh38]
Chr11:68673650 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1537+88G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000677249] |
Chr11:68934001 [GRCh38]
Chr11:68701469 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2035C>T (p.Arg679Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000699105]|not provided [RCV001538932] |
Chr11:68936515 [GRCh38]
Chr11:68703983 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000698226]|Inborn genetic diseases [RCV002406605]|not provided [RCV001572867] |
Chr11:68906163 [GRCh38]
Chr11:68673631 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.641G>C (p.Gly214Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000701228] |
Chr11:68911533 [GRCh38]
Chr11:68679001 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1718A>G (p.Glu573Gly) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000686937] |
Chr11:68935384 [GRCh38]
Chr11:68702852 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000687416] |
Chr11:68906110 [GRCh38]
Chr11:68673578 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000686666]|Charcot-Marie-Tooth disease [RCV000856962]|not provided [RCV001592864] |
Chr11:68908165 [GRCh38]
Chr11:68675633 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000686936]|IGHMBP2-related neuronopathy [RCV001095756] |
Chr11:68935303 [GRCh38]
Chr11:68702771 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.257-2A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000704215] |
Chr11:68908143 [GRCh38]
Chr11:68675611 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000704233]|not provided [RCV002473124] |
Chr11:68933411 [GRCh38]
Chr11:68700879 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000706817]|not provided [RCV003130022] |
Chr11:68936797 [GRCh38]
Chr11:68704265 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2863G>C (p.Gly955Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000693073] |
Chr11:68939612 [GRCh38]
Chr11:68707080 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1633-2A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000695071] |
Chr11:68935297 [GRCh38]
Chr11:68702765 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.2856C>A (p.Ala952=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000690548]|Inborn genetic diseases [RCV002440446] |
Chr11:68939605 [GRCh38]
Chr11:68707073 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.7T>G (p.Ser3Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000690745] |
Chr11:68903959 [GRCh38]
Chr11:68671427 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1684A>G (p.Lys562Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000691041] |
Chr11:68935350 [GRCh38]
Chr11:68702818 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1784G>A (p.Arg595Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000691173] |
Chr11:68936264 [GRCh38]
Chr11:68703732 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000705582]|Charcot-Marie-Tooth disease axonal type 2S [RCV000768429]|Distal spinal muscular atrophy [RCV000790283]|Inborn genetic diseases [RCV002397478]|not provided [RCV001090413] |
Chr11:68935359 [GRCh38]
Chr11:68702827 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1399G>A (p.Val467Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000688772] |
Chr11:68933462 [GRCh38]
Chr11:68700930 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1736T>G (p.Phe579Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000694089] |
Chr11:68935402 [GRCh38]
Chr11:68702870 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NC_000011.10:g.(?_68908125)_(68908651_?)del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000708077] |
Chr11:68908125..68908651 [GRCh38]
Chr11:68675593..68676119 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.64G>T (p.Asp22Tyr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000694338] |
Chr11:68904016 [GRCh38]
Chr11:68671484 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.928A>T (p.Thr310Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000685466] |
Chr11:68917751 [GRCh38]
Chr11:68685219 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2771A>C (p.His924Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000699874] |
Chr11:68938341 [GRCh38]
Chr11:68705809 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000685957] |
Chr11:68937055 [GRCh38]
Chr11:68704523 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000692478] |
Chr11:68914937 [GRCh38]
Chr11:68682405 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.322C>T (p.Arg108Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000704133] |
Chr11:68908210 [GRCh38]
Chr11:68675678 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.320C>G (p.Thr107Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000689917] |
Chr11:68908208 [GRCh38]
Chr11:68675676 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000706919]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000988591]|Neuronopathy, distal hereditary motor, autosomal dominant 1 [RCV001813800] |
Chr11:68933375..68933376 [GRCh38]
Chr11:68700843..68700844 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000690420]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001109640] |
Chr11:68917841 [GRCh38]
Chr11:68685309 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000695581]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003147534]|Distal spinal muscular atrophy [RCV000790271]|Inborn genetic diseases [RCV003243261]|not provided [RCV001784325] |
Chr11:68929278 [GRCh38]
Chr11:68696746 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000696268] |
Chr11:68933892 [GRCh38]
Chr11:68701360 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2012C>T (p.Thr671Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000696459]|Inborn genetic diseases [RCV002533450] |
Chr11:68936492 [GRCh38]
Chr11:68703960 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2688C>G (p.Thr896=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000699545]|Inborn genetic diseases [RCV002440500] |
Chr11:68938258 [GRCh38]
Chr11:68705726 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000694228]|Charcot-Marie-Tooth disease [RCV001173570] |
Chr11:68929233 [GRCh38]
Chr11:68696701 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000700554]|Inborn genetic diseases [RCV002422564]|not provided [RCV003133554] |
Chr11:68914902 [GRCh38]
Chr11:68682370 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000701336]|Charcot-Marie-Tooth disease [RCV000856961] |
Chr11:68904035 [GRCh38]
Chr11:68671503 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.257-151T>A |
single nucleotide variant |
not provided [RCV001567550] |
Chr11:68907994 [GRCh38]
Chr11:68675462 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.450-80T>C |
single nucleotide variant |
not provided [RCV001574744] |
Chr11:68908454 [GRCh38]
Chr11:68675922 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_181514.2(MRPL21):c.88+90T>C |
single nucleotide variant |
not provided [RCV001539638] |
Chr11:68903633 [GRCh38]
Chr11:68671101 [GRCh37]
Chr11:11q13.3 |
likely benign |
| GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000754729]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002533772]|Charcot-Marie-Tooth disease [RCV001173330] |
Chr11:68933390 [GRCh38]
Chr11:68700858 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1537+188C>T |
single nucleotide variant |
not provided [RCV001540150] |
Chr11:68934101 [GRCh38]
Chr11:68701569 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.712-287G>A |
single nucleotide variant |
not provided [RCV001678800] |
Chr11:68914536 [GRCh38]
Chr11:68682004 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001316831]|Charcot-Marie-Tooth disease [RCV000856965] |
Chr11:68914853 [GRCh38]
Chr11:68682321 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1235+1076G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000856969] |
Chr11:68930433 [GRCh38]
Chr11:68697901 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1588_1589dup (p.Pro531fs) |
microsatellite |
Charcot-Marie-Tooth disease type 4 [RCV000856972] |
Chr11:68934511..68934512 [GRCh38]
Chr11:68701979..68701980 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) |
single nucleotide variant |
Autosomal dominant intermediate Charcot-Marie-Tooth disease [RCV000856976]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002536211]|Charcot-Marie-Tooth disease [RCV001173345] |
Chr11:68936404 [GRCh38]
Chr11:68703872 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1479C>G (p.Thr493=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001464415]|not provided [RCV003411915] |
Chr11:68933855 [GRCh38]
Chr11:68701323 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000980245] |
Chr11:68908329 [GRCh38]
Chr11:68675797 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1584T>G (p.Ala528=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001451207] |
Chr11:68934510 [GRCh38]
Chr11:68701978 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000791593]|Distal spinal muscular atrophy [RCV000826144]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789344]|not provided [RCV000760424] |
Chr11:68933399 [GRCh38]
Chr11:68700867 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.-5C>T |
single nucleotide variant |
not provided [RCV000994679] |
Chr11:68903948 [GRCh38]
Chr11:68671416 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_181514.2(MRPL21):c.74C>T (p.Ser25Leu) |
single nucleotide variant |
not provided [RCV001566323] |
Chr11:68903737 [GRCh38]
Chr11:68671205 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001045474] |
Chr11:68936669 [GRCh38]
Chr11:68704137 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.86+282A>G |
single nucleotide variant |
not provided [RCV001575931] |
Chr11:68904320 [GRCh38]
Chr11:68671788 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2611+239C>T |
single nucleotide variant |
not provided [RCV001725670] |
Chr11:68937330 [GRCh38]
Chr11:68704798 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1722C>T (p.Ala574=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001455585] |
Chr11:68935388 [GRCh38]
Chr11:68702856 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000945804] |
Chr11:68934540 [GRCh38]
Chr11:68702008 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2870A>G (p.Lys957Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001520590] |
Chr11:68939619 [GRCh38]
Chr11:68707087 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1851C>T (p.Val617=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001461268] |
Chr11:68936331 [GRCh38]
Chr11:68703799 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000983613] |
Chr11:68917816 [GRCh38]
Chr11:68685284 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001061067] |
Chr11:68939578 [GRCh38]
Chr11:68707046 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001062368]|Inborn genetic diseases [RCV002379584]|not provided [RCV001760027] |
Chr11:68933369 [GRCh38]
Chr11:68700837 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001061590]|not provided [RCV003883545] |
Chr11:68929276 [GRCh38]
Chr11:68696744 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001037478] |
Chr11:68933865 [GRCh38]
Chr11:68701333 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001039551] |
Chr11:68917752 [GRCh38]
Chr11:68685220 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001037870] |
Chr11:68917821 [GRCh38]
Chr11:68685289 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001048958] |
Chr11:68936843 [GRCh38]
Chr11:68704311 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2175C>T (p.Gly725=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000791484] |
Chr11:68936655 [GRCh38]
Chr11:68704123 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.711+1G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001390623]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789346] |
Chr11:68911604 [GRCh38]
Chr11:68679072 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1610T>A (p.Val537Glu) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789353] |
Chr11:68934536 [GRCh38]
Chr11:68702004 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.50T>C (p.Leu17Pro) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000789647] |
Chr11:68904002 [GRCh38]
Chr11:68671470 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.616C>T (p.Gln206Ter) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000789649] |
Chr11:68911508 [GRCh38]
Chr11:68678976 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.238A>G (p.Ser80Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789970] |
Chr11:68906220 [GRCh38]
Chr11:68673688 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.87-268A>T |
single nucleotide variant |
not provided [RCV000827700] |
Chr11:68905801 [GRCh38]
Chr11:68673269 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2784+54G>A |
single nucleotide variant |
not provided [RCV001534815]|not specified [RCV000790248] |
Chr11:68938408 [GRCh38]
Chr11:68705876 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1091T>C (p.Leu364Pro) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000790270] |
Chr11:68929213 [GRCh38]
Chr11:68696681 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002536921]|Distal spinal muscular atrophy [RCV000790273] |
Chr11:68906102 [GRCh38]
Chr11:68673570 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002290427]|Distal spinal muscular atrophy [RCV000790276] |
Chr11:68933397 [GRCh38]
Chr11:68700865 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000800244]|Distal spinal muscular atrophy [RCV000790284]|not provided [RCV001008804] |
Chr11:68936834 [GRCh38]
Chr11:68704302 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001262002]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001306272]|Distal spinal muscular atrophy [RCV000790286] |
Chr11:68936389 [GRCh38]
Chr11:68703857 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1707C>T (p.Gly569=) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000790318] |
Chr11:68935373 [GRCh38]
Chr11:68702841 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001432800]|Charcot-Marie-Tooth disease [RCV001174194] |
Chr11:68933855 [GRCh38]
Chr11:68701323 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1757-6T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001446598] |
Chr11:68936231 [GRCh38]
Chr11:68703699 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.585C>T (p.Ser195=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001456874] |
Chr11:68911477 [GRCh38]
Chr11:68678945 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1062T>G (p.Gly354=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000856967] |
Chr11:68929184 [GRCh38]
Chr11:68696652 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000938195] |
Chr11:68908227 [GRCh38]
Chr11:68675695 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1452G>A (p.Thr484=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001503228] |
Chr11:68933828 [GRCh38]
Chr11:68701296 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000873605]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001109811]|not provided [RCV001552498] |
Chr11:68939630 [GRCh38]
Chr11:68707098 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.597G>A (p.Ala199=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002064798] |
Chr11:68911489 [GRCh38]
Chr11:68678957 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.555G>A (p.Leu185=) |
single nucleotide variant |
not provided [RCV000919549] |
Chr11:68911447 [GRCh38]
Chr11:68678915 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.350C>T (p.Ala117Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000809677] |
Chr11:68908238 [GRCh38]
Chr11:68675706 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001320701]|Charcot-Marie-Tooth disease [RCV000856963]|Inborn genetic diseases [RCV002538887] |
Chr11:68911488 [GRCh38]
Chr11:68678956 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2665G>C (p.Ala889Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000856979] |
Chr11:68938235 [GRCh38]
Chr11:68705703 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2773del (p.His925fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000856981] |
Chr11:68938342 [GRCh38]
Chr11:68705810 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2777T>C (p.Leu926Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000856982] |
Chr11:68938347 [GRCh38]
Chr11:68705815 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001240513]|Charcot-Marie-Tooth disease [RCV000856983] |
Chr11:68939538 [GRCh38]
Chr11:68707006 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001869314]|Inborn genetic diseases [RCV002434054]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000856984] |
Chr11:68939709 [GRCh38]
Chr11:68707177 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.548-274C>T |
single nucleotide variant |
not provided [RCV000827872] |
Chr11:68911166 [GRCh38]
Chr11:68678634 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000814435] |
Chr11:68933481 [GRCh38]
Chr11:68700949 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000796809]|Charcot-Marie-Tooth disease [RCV001173573]|Inborn genetic diseases [RCV002360930] |
Chr11:68908277 [GRCh38]
Chr11:68675745 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.257G>A (p.Gly86Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000815859] |
Chr11:68908145 [GRCh38]
Chr11:68675613 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.548-190G>T |
single nucleotide variant |
not provided [RCV000841851] |
Chr11:68911250 [GRCh38]
Chr11:68678718 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2784+114T>G |
single nucleotide variant |
not provided [RCV000841854] |
Chr11:68938468 [GRCh38]
Chr11:68705936 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2785-243C>T |
single nucleotide variant |
not provided [RCV000841855] |
Chr11:68939291 [GRCh38]
Chr11:68706759 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2785-154G>A |
single nucleotide variant |
not provided [RCV000841856] |
Chr11:68939380 [GRCh38]
Chr11:68706848 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1419-145C>T |
single nucleotide variant |
not provided [RCV000841857] |
Chr11:68933650 [GRCh38]
Chr11:68701118 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1537+198T>C |
single nucleotide variant |
not provided [RCV000841858] |
Chr11:68934111 [GRCh38]
Chr11:68701579 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1633-135C>T |
single nucleotide variant |
not provided [RCV000841859] |
Chr11:68935164 [GRCh38]
Chr11:68702632 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.133del (p.Val45fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000793544] |
Chr11:68906115 [GRCh38]
Chr11:68673583 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1757-149C>T |
single nucleotide variant |
not provided [RCV000831753] |
Chr11:68936088 [GRCh38]
Chr11:68703556 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.256+7G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000892668] |
Chr11:68906245 [GRCh38]
Chr11:68673713 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.862G>A (p.Asp288Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000807065] |
Chr11:68914973 [GRCh38]
Chr11:68682441 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000813863]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001109812] |
Chr11:68939708 [GRCh38]
Chr11:68707176 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.861C>T (p.Ser287=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001458282] |
Chr11:68914972 [GRCh38]
Chr11:68682440 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2784+111C>A |
single nucleotide variant |
not provided [RCV000836523] |
Chr11:68938465 [GRCh38]
Chr11:68705933 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1293C>T (p.Gly431=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000803651] |
Chr11:68933356 [GRCh38]
Chr11:68700824 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1038C>T (p.Asn346=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001456063] |
Chr11:68917861 [GRCh38]
Chr11:68685329 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.729del (p.Ser244fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000825531] |
Chr11:68914836 [GRCh38]
Chr11:68682304 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.2752C>T (p.Arg918Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000798594]|Inborn genetic diseases [RCV002440657] |
Chr11:68938322 [GRCh38]
Chr11:68705790 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1826C>T (p.Ala609Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000800297] |
Chr11:68936306 [GRCh38]
Chr11:68703774 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2386C>G (p.Pro796Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000805449] |
Chr11:68936866 [GRCh38]
Chr11:68704334 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.913-313G>A |
single nucleotide variant |
not provided [RCV000830612] |
Chr11:68917423 [GRCh38]
Chr11:68684891 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.532C>G (p.Pro178Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000807980] |
Chr11:68908616 [GRCh38]
Chr11:68676084 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1552G>A (p.Val518Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000803895] |
Chr11:68934478 [GRCh38]
Chr11:68701946 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000791944]|Charcot-Marie-Tooth disease [RCV000856980]|Inborn genetic diseases [RCV002440624] |
Chr11:68938283 [GRCh38]
Chr11:68705751 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1898A>G (p.His633Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000798979] |
Chr11:68936378 [GRCh38]
Chr11:68703846 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000796711]|Charcot-Marie-Tooth disease [RCV000856978] |
Chr11:68937041 [GRCh38]
Chr11:68704509 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1279G>C (p.Ala427Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000809159] |
Chr11:68933342 [GRCh38]
Chr11:68700810 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000793036]|not provided [RCV001766629] |
Chr11:68938219 [GRCh38]
Chr11:68705687 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2205G>C (p.Glu735Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000810098] |
Chr11:68936685 [GRCh38]
Chr11:68704153 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.780del (p.Gln260fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001856233]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789347] |
Chr11:68914891 [GRCh38]
Chr11:68682359 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.983_984del (p.Lys328fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789349] |
Chr11:68917804..68917805 [GRCh38]
Chr11:68685272..68685273 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002249491]|Inborn genetic diseases [RCV002334461]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789351] |
Chr11:68929305 [GRCh38]
Chr11:68696773 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1877del (p.Leu626fs) |
deletion |
Distal spinal muscular atrophy [RCV000789650] |
Chr11:68936357 [GRCh38]
Chr11:68703825 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.721T>C (p.Cys241Arg) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000789656] |
Chr11:68914832 [GRCh38]
Chr11:68682300 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NC_000011.10:g.68906238_68929183del |
deletion |
Distal spinal muscular atrophy [RCV000789671] |
Chr11:68906238..68929183 [GRCh38]
Chr11:68673706..68696651 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2083A>T (p.Lys695Ter) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789678] |
Chr11:68936563 [GRCh38]
Chr11:68704031 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000806743]|Autosomal recessive distal spinal muscular atrophy 1 [RCV000853264]|Charcot-Marie-Tooth disease [RCV000789974]|not provided [RCV003489865] |
Chr11:68933336 [GRCh38]
Chr11:68700804 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1060+1G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001869234]|Distal spinal muscular atrophy [RCV000790268] |
Chr11:68917884 [GRCh38]
Chr11:68685352 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1235+3A>G |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000790275] |
Chr11:68929360 [GRCh38]
Chr11:68696828 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1648_1649insG (p.Gln550fs) |
insertion |
Distal spinal muscular atrophy [RCV000790278] |
Chr11:68935314..68935315 [GRCh38]
Chr11:68702782..68702783 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1748A>T (p.Asn583Ile) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000790279] |
Chr11:68935414 [GRCh38]
Chr11:68702882 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001221389]|Distal spinal muscular atrophy [RCV000790281] |
Chr11:68906145 [GRCh38]
Chr11:68673613 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1969C>T (p.Gln657Ter) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000790282] |
Chr11:68936449 [GRCh38]
Chr11:68703917 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1756G>T (p.Gly586Cys) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000790285] |
Chr11:68935422 [GRCh38]
Chr11:68702890 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002535816]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000790330] |
Chr11:68934540..68934548 [GRCh38]
Chr11:68702008..68702016 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1682T>C (p.Ile561Thr) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000790331] |
Chr11:68935348 [GRCh38]
Chr11:68702816 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2970_2982del (p.Glu990fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790336] |
Chr11:68939717..68939729 [GRCh38]
Chr11:68707185..68707197 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1966T>C (p.Ser656Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000812981]|Inborn genetic diseases [RCV003372867] |
Chr11:68936446 [GRCh38]
Chr11:68703914 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1833C>G (p.Ile611Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000817237] |
Chr11:68936313 [GRCh38]
Chr11:68703781 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.257-101G>C |
single nucleotide variant |
not provided [RCV000841832] |
Chr11:68908044 [GRCh38]
Chr11:68675512 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.450-72G>T |
single nucleotide variant |
not provided [RCV000841833] |
Chr11:68908462 [GRCh38]
Chr11:68675930 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2531C>T (p.Ala844Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000813571] |
Chr11:68937011 [GRCh38]
Chr11:68704479 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2612-123C>T |
single nucleotide variant |
not provided [RCV000841863] |
Chr11:68938059 [GRCh38]
Chr11:68705527 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.257-116C>T |
single nucleotide variant |
not provided [RCV000841953] |
Chr11:68908029 [GRCh38]
Chr11:68675497 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1235+148A>G |
single nucleotide variant |
not provided [RCV000841954] |
Chr11:68929505 [GRCh38]
Chr11:68696973 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003768475]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789339] |
Chr11:68929335 [GRCh38]
Chr11:68696803 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.595G>C (p.Ala199Pro) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789343] |
Chr11:68911487 [GRCh38]
Chr11:68678955 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.587A>G (p.Gln196Arg) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789348]|not provided [RCV001701317] |
Chr11:68911479 [GRCh38]
Chr11:68678947 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1519C>T (p.Gln507Ter) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789352] |
Chr11:68933895 [GRCh38]
Chr11:68701363 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001390624]|Distal spinal muscular atrophy [RCV000789645]|Inborn genetic diseases [RCV002458408] |
Chr11:68929266 [GRCh38]
Chr11:68696734 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000789652]|not specified [RCV003323723] |
Chr11:68936287 [GRCh38]
Chr11:68703755 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.661del (p.Thr221fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003768476]|Distal spinal muscular atrophy [RCV000789654] |
Chr11:68911550 [GRCh38]
Chr11:68679018 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1415T>C (p.Leu472Pro) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000789655] |
Chr11:68933478 [GRCh38]
Chr11:68700946 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.752T>C (p.Leu251Pro) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000789657] |
Chr11:68914863 [GRCh38]
Chr11:68682331 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2436del (p.Ala813fs) |
deletion |
Charcot-Marie-Tooth disease axonal type 2S [RCV002267024]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789335] |
Chr11:68936916 [GRCh38]
Chr11:68704384 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1794C>A (p.Asn598Lys) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789345] |
Chr11:68936274 [GRCh38]
Chr11:68703742 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1743A>C (p.Arg581Ser) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000789646] |
Chr11:68935409 [GRCh38]
Chr11:68702877 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.647C>T (p.Pro216Leu) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000789651] |
Chr11:68911539 [GRCh38]
Chr11:68679007 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1120A>G (p.Ile374Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000820868] |
Chr11:68929242 [GRCh38]
Chr11:68696710 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.676G>T (p.Glu226Ter) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789968] |
Chr11:68911568 [GRCh38]
Chr11:68679036 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1399G>C (p.Val467Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000823900] |
Chr11:68933462 [GRCh38]
Chr11:68700930 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.257-279T>C |
single nucleotide variant |
not provided [RCV000832244] |
Chr11:68907866 [GRCh38]
Chr11:68675334 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1723G>C (p.Val575Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000797808] |
Chr11:68935389 [GRCh38]
Chr11:68702857 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.912+236A>G |
single nucleotide variant |
not provided [RCV000836810] |
Chr11:68915259 [GRCh38]
Chr11:68682727 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000798231]|not provided [RCV001788352] |
Chr11:68917859 [GRCh38]
Chr11:68685327 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000808921]|Inborn genetic diseases [RCV002370165]|not provided [RCV001811499] |
Chr11:68908281 [GRCh38]
Chr11:68675749 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1301T>G (p.Val434Gly) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000815045] |
Chr11:68933364 [GRCh38]
Chr11:68700832 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1096G>A (p.Glu366Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000798729] |
Chr11:68929218 [GRCh38]
Chr11:68696686 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1990A>C (p.Thr664Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000819082] |
Chr11:68936470 [GRCh38]
Chr11:68703938 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1627C>G (p.Leu543Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000795090] |
Chr11:68934553 [GRCh38]
Chr11:68702021 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_181514.2(MRPL21):c.88+87T>C |
single nucleotide variant |
not provided [RCV000827871] |
Chr11:68903636 [GRCh38]
Chr11:68671104 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.647C>A (p.Pro216His) |
single nucleotide variant |
not provided [RCV001090411] |
Chr11:68911539 [GRCh38]
Chr11:68679007 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001046557] |
Chr11:68933423 [GRCh38]
Chr11:68700891 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001046715] |
Chr11:68915004 [GRCh38]
Chr11:68682472 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001065682] |
Chr11:68938277 [GRCh38]
Chr11:68705745 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*524T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001113928] |
Chr11:68940255 [GRCh38]
Chr11:68707723 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.*666G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001113931] |
Chr11:68940397 [GRCh38]
Chr11:68707865 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.464T>A (p.Leu155Gln) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789341] |
Chr11:68908548 [GRCh38]
Chr11:68676016 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001227491]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789354]|not provided [RCV003311887] |
Chr11:68937075..68937078 [GRCh38]
Chr11:68704543..68704546 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.114del (p.Glu39fs) |
deletion |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789979] |
Chr11:68906094 [GRCh38]
Chr11:68673562 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2129C>T (p.Pro710Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000810457] |
Chr11:68936609 [GRCh38]
Chr11:68704077 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000822234]|Charcot-Marie-Tooth disease [RCV001173566]|Inborn genetic diseases [RCV002332712]|not provided [RCV001766741] |
Chr11:68908328 [GRCh38]
Chr11:68675796 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2822G>A (p.Arg941Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000810821]|Inborn genetic diseases [RCV003279090] |
Chr11:68939571 [GRCh38]
Chr11:68707039 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.678G>C (p.Glu226Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000822711] |
Chr11:68911570 [GRCh38]
Chr11:68679038 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1463del (p.Leu488fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789350] |
Chr11:68933839 [GRCh38]
Chr11:68701307 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1277T>C (p.Leu426Pro) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000789648] |
Chr11:68933340 [GRCh38]
Chr11:68700808 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000985181]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001869220]|Charcot-Marie-Tooth disease [RCV000856977]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789336]|See cases [RCV002252236]|not provided [RCV001310976] |
Chr11:68936842 [GRCh38]
Chr11:68704310 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001197171]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001869221]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789337]|Spinal muscular atrophy [RCV001267649] |
Chr11:68908276 [GRCh38]
Chr11:68675744 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.94C>T (p.Gln32Ter) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789342] |
Chr11:68906076 [GRCh38]
Chr11:68673544 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.661A>G (p.Thr221Ala) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV000789653] |
Chr11:68911553 [GRCh38]
Chr11:68679021 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001376977]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789679] |
Chr11:68936297 [GRCh38]
Chr11:68703765 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000818850]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789969] |
Chr11:68933326 [GRCh38]
Chr11:68700794 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2770C>T (p.His924Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789972] |
Chr11:68938340 [GRCh38]
Chr11:68705808 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.575T>C (p.Leu192Pro) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789976] |
Chr11:68911467 [GRCh38]
Chr11:68678935 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000810623]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789977] |
Chr11:68917823 [GRCh38]
Chr11:68685291 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.2:c.1538-8C>G |
single nucleotide variant |
not provided [RCV000829332] |
Chr11:68701924 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000794750]|not provided [RCV001509410] |
Chr11:68933827 [GRCh38]
Chr11:68701295 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1714_1716del (p.Lys572del) |
deletion |
Charcot-Marie-Tooth disease [RCV000856974]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789981] |
Chr11:68935378..68935380 [GRCh38]
Chr11:68702846..68702848 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.548-223C>T |
single nucleotide variant |
not provided [RCV000838679] |
Chr11:68911217 [GRCh38]
Chr11:68678685 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2612-146G>T |
single nucleotide variant |
not provided [RCV000841852] |
Chr11:68938036 [GRCh38]
Chr11:68705504 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2097G>T (p.Gly699=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000804339] |
Chr11:68936577 [GRCh38]
Chr11:68704045 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001044314] |
Chr11:68914995 [GRCh38]
Chr11:68682463 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001044435] |
Chr11:68911556 [GRCh38]
Chr11:68679024 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001112495]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001441798] |
Chr11:68938237 [GRCh38]
Chr11:68705705 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.*379G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001112592] |
Chr11:68940110 [GRCh38]
Chr11:68707578 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001067255] |
Chr11:68935367 [GRCh38]
Chr11:68702835 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.*18C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174196] |
Chr11:68939749 [GRCh38]
Chr11:68707217 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001113653]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001365760] |
Chr11:68914998 [GRCh38]
Chr11:68682466 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001242910] |
Chr11:68914865 [GRCh38]
Chr11:68682333 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001208429] |
Chr11:68936767 [GRCh38]
Chr11:68704235 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001220155]|Inborn genetic diseases [RCV002402660] |
Chr11:68906140 [GRCh38]
Chr11:68673608 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001208810] |
Chr11:68936444 [GRCh38]
Chr11:68703912 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001220825] |
Chr11:68917750 [GRCh38]
Chr11:68685218 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001222447] |
Chr11:68936261 [GRCh38]
Chr11:68703729 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001222951]|not provided [RCV001509409] |
Chr11:68933379 [GRCh38]
Chr11:68700847 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001220953] |
Chr11:68939724 [GRCh38]
Chr11:68707192 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001237667]|Inborn genetic diseases [RCV003263874]|not provided [RCV003132320] |
Chr11:68938325 [GRCh38]
Chr11:68705793 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001241160] |
Chr11:68933401 [GRCh38]
Chr11:68700869 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001210517]|Inborn genetic diseases [RCV002561736] |
Chr11:68937088 [GRCh38]
Chr11:68704556 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173338] |
Chr11:68911443 [GRCh38]
Chr11:68678911 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001246561] |
Chr11:68908202 [GRCh38]
Chr11:68675670 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001248094] |
Chr11:68936534 [GRCh38]
Chr11:68704002 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001205683] |
Chr11:68935299 [GRCh38]
Chr11:68702767 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.66C>G (p.Asp22Glu) |
single nucleotide variant |
not provided [RCV003312205] |
Chr11:68904018 [GRCh38]
Chr11:68671486 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*108G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001110603] |
Chr11:68939839 [GRCh38]
Chr11:68707307 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*172C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001110604] |
Chr11:68939903 [GRCh38]
Chr11:68707371 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*175T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001110605] |
Chr11:68939906 [GRCh38]
Chr11:68707374 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.*862T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001110697] |
Chr11:68940593 [GRCh38]
Chr11:68708061 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001229967] |
Chr11:68911557 [GRCh38]
Chr11:68679025 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*565G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001113930] |
Chr11:68940296 [GRCh38]
Chr11:68707764 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*729G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001109904] |
Chr11:68940460 [GRCh38]
Chr11:68707928 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.*754G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001109905] |
Chr11:68940485 [GRCh38]
Chr11:68707953 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1633-59A>C |
single nucleotide variant |
not provided [RCV001581022] |
Chr11:68935240 [GRCh38]
Chr11:68702708 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+108C>T |
single nucleotide variant |
not provided [RCV001582298] |
Chr11:68929465 [GRCh38]
Chr11:68696933 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NC_000011.9:g.(?_68671421)_(68679091_?)del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003107596] |
Chr11:68671421..68679091 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NC_000011.9:g.(?_68673517)_(68682511_?)del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003107597] |
Chr11:68673517..68682511 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NC_000011.9:g.(?_68682271)_(68682511_?)del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003107598] |
Chr11:68682271..68682511 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NC_000011.9:g.(?_64973914)_(70052579_?)dup |
duplication |
Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] |
Chr11:64973914..70052579 [GRCh37]
Chr11:11q13.1-13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1538-117C>T |
single nucleotide variant |
not provided [RCV001715672] |
Chr11:68934347 [GRCh38]
Chr11:68701815 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2611+258G>C |
single nucleotide variant |
not provided [RCV001584704] |
Chr11:68937349 [GRCh38]
Chr11:68704817 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1632+28C>T |
single nucleotide variant |
not provided [RCV001559725] |
Chr11:68934586 [GRCh38]
Chr11:68702054 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1061-2A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001530179]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003771640] |
Chr11:68929181 [GRCh38]
Chr11:68696649 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2949G>A (p.Gln983=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001448818] |
Chr11:68939698 [GRCh38]
Chr11:68707166 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000940989] |
Chr11:68929307 [GRCh38]
Chr11:68696775 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001394900]|not provided [RCV000887531] |
Chr11:68939623 [GRCh38]
Chr11:68707091 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2838G>A (p.Arg946=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001439444] |
Chr11:68939587 [GRCh38]
Chr11:68707055 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1236-5C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000910771]|Inborn genetic diseases [RCV002363361] |
Chr11:68933294 [GRCh38]
Chr11:68700762 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1077C>T (p.Gly359=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001450729] |
Chr11:68929199 [GRCh38]
Chr11:68696667 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001496249]|Charcot-Marie-Tooth disease [RCV001174198] |
Chr11:68937024 [GRCh38]
Chr11:68704492 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1410C>T (p.His470=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001441733] |
Chr11:68933473 [GRCh38]
Chr11:68700941 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.711+10G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001397957] |
Chr11:68911613 [GRCh38]
Chr11:68679081 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.86+7G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001520845]|Charcot-Marie-Tooth disease [RCV001172579] |
Chr11:68904045 [GRCh38]
Chr11:68671513 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.1524G>T (p.Ser508=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001493970] |
Chr11:68933900 [GRCh38]
Chr11:68701368 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000873727] |
Chr11:68929271 [GRCh38]
Chr11:68696739 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1756+5G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001218908] |
Chr11:68935427 [GRCh38]
Chr11:68702895 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.673del (p.Val225fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001244728] |
Chr11:68911564 [GRCh38]
Chr11:68679032 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.*529C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001113929] |
Chr11:68940260 [GRCh38]
Chr11:68707728 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001222997]|Inborn genetic diseases [RCV002429946]|not provided [RCV001586067] |
Chr11:68936620 [GRCh38]
Chr11:68704088 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2611+1G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001227492] |
Chr11:68937092 [GRCh38]
Chr11:68704560 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1236-1G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001243549] |
Chr11:68933298 [GRCh38]
Chr11:68700766 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001227412] |
Chr11:68936792 [GRCh38]
Chr11:68704260 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001220172]|Inborn genetic diseases [RCV002447106] |
Chr11:68936788 [GRCh38]
Chr11:68704256 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001227707]|Inborn genetic diseases [RCV002562626] |
Chr11:68934524 [GRCh38]
Chr11:68701992 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001221052] |
Chr11:68914845 [GRCh38]
Chr11:68682313 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1061-1G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173327] |
Chr11:68929182 [GRCh38]
Chr11:68696650 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173343] |
Chr11:68933824 [GRCh38]
Chr11:68701292 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001873614]|Charcot-Marie-Tooth disease [RCV001173350]|not provided [RCV003132250] |
Chr11:68936275 [GRCh38]
Chr11:68703743 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001313047]|Charcot-Marie-Tooth disease [RCV001173574] |
Chr11:68906194 [GRCh38]
Chr11:68673662 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001209897] |
Chr11:68929345..68929352 [GRCh38]
Chr11:68696813..68696820 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001048826] |
Chr11:68938286 [GRCh38]
Chr11:68705754 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001244103]|not provided [RCV003132342] |
Chr11:68914892 [GRCh38]
Chr11:68682360 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1395T>C (p.Ser465=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002544482] |
Chr11:68933458 [GRCh38]
Chr11:68700926 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+9C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003768879] |
Chr11:68929366 [GRCh38]
Chr11:68696834 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.6C>T (p.Ala2=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001495773] |
Chr11:68903958 [GRCh38]
Chr11:68671426 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000936049] |
Chr11:68914904 [GRCh38]
Chr11:68682372 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1632+95C>T |
single nucleotide variant |
not provided [RCV001545483] |
Chr11:68934653 [GRCh38]
Chr11:68702121 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.547+271G>A |
single nucleotide variant |
not provided [RCV001551839] |
Chr11:68908902 [GRCh38]
Chr11:68676370 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003771731]|not provided [RCV001568209] |
Chr11:68933808 [GRCh38]
Chr11:68701276 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1756+119C>G |
single nucleotide variant |
not provided [RCV001677510] |
Chr11:68935541 [GRCh38]
Chr11:68703009 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.265G>A (p.Val89Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002032591]|not provided [RCV001552742] |
Chr11:68908153 [GRCh38]
Chr11:68675621 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001043270] |
Chr11:68936336 [GRCh38]
Chr11:68703804 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001043346]|Inborn genetic diseases [RCV002372779]|not provided [RCV003132159] |
Chr11:68914835 [GRCh38]
Chr11:68682303 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2785-3C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001044313] |
Chr11:68939531 [GRCh38]
Chr11:68706999 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001044630] |
Chr11:68936603 [GRCh38]
Chr11:68704071 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1060+35C>G |
single nucleotide variant |
not provided [RCV001592546] |
Chr11:68917918 [GRCh38]
Chr11:68685386 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.86+240C>T |
single nucleotide variant |
not provided [RCV001675544] |
Chr11:68904278 [GRCh38]
Chr11:68671746 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.547+227del |
deletion |
not provided [RCV001593519] |
Chr11:68908843 [GRCh38]
Chr11:68676311 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.712-172C>T |
single nucleotide variant |
not provided [RCV001593881] |
Chr11:68914651 [GRCh38]
Chr11:68682119 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2611+273G>C |
single nucleotide variant |
not provided [RCV001619250] |
Chr11:68937364 [GRCh38]
Chr11:68704832 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.548-80dup |
duplication |
not provided [RCV001657591] |
Chr11:68911355..68911356 [GRCh38]
Chr11:68678823..68678824 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1235+38C>T |
single nucleotide variant |
IGHMBP2-related condition [RCV003980727]|not provided [RCV001587505] |
Chr11:68929395 [GRCh38]
Chr11:68696863 [GRCh37]
Chr11:11q13.3 |
benign|likely benign |
| NM_002180.3(IGHMBP2):c.2611+299C>T |
single nucleotide variant |
not provided [RCV001652663] |
Chr11:68937390 [GRCh38]
Chr11:68704858 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2785-39C>A |
single nucleotide variant |
not provided [RCV001596449] |
Chr11:68939495 [GRCh38]
Chr11:68706963 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_181514.2(MRPL21):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV001677017] |
Chr11:68903809 [GRCh38]
Chr11:68671277 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.257-132dup |
duplication |
not provided [RCV001674538] |
Chr11:68908000..68908001 [GRCh38]
Chr11:68675468..68675469 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.*797T>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001109906] |
Chr11:68940528 [GRCh38]
Chr11:68707996 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001111837] |
Chr11:68908239 [GRCh38]
Chr11:68675707 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001205176]|Distal spinal muscular atrophy [RCV001027462] |
Chr11:68936845 [GRCh38]
Chr11:68704313 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001112398]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002558121]|not provided [RCV002227248] |
Chr11:68936296 [GRCh38]
Chr11:68703764 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001172565] |
Chr11:68903988 [GRCh38]
Chr11:68671456 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1538-19G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003769847]|Charcot-Marie-Tooth disease [RCV001172573] |
Chr11:68934445 [GRCh38]
Chr11:68701913 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001486178]|Charcot-Marie-Tooth disease [RCV001172578] |
Chr11:68938240 [GRCh38]
Chr11:68705708 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.*698C>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001109903] |
Chr11:68940429 [GRCh38]
Chr11:68707897 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001209127]|Charcot-Marie-Tooth disease [RCV001173332] |
Chr11:68906167 [GRCh38]
Chr11:68673635 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173341] |
Chr11:68906173 [GRCh38]
Chr11:68673641 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002559661]|Charcot-Marie-Tooth disease [RCV001173348] |
Chr11:68914839 [GRCh38]
Chr11:68682307 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173567]|not provided [RCV002509623] |
Chr11:68908539 [GRCh38]
Chr11:68676007 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2612-3C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173569] |
Chr11:68938179 [GRCh38]
Chr11:68705647 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*23C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001110602] |
Chr11:68939754 [GRCh38]
Chr11:68707222 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*226G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001110606] |
Chr11:68939957 [GRCh38]
Chr11:68707425 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.*242C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001110607] |
Chr11:68939973 [GRCh38]
Chr11:68707441 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174205] |
Chr11:68936550 [GRCh38]
Chr11:68704018 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.*860G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001110696] |
Chr11:68940591 [GRCh38]
Chr11:68708059 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001048316] |
Chr11:68936516 [GRCh38]
Chr11:68703984 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.547+226_547+227dup |
duplication |
not provided [RCV001725687] |
Chr11:68908842..68908843 [GRCh38]
Chr11:68676310..68676311 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001071082] |
Chr11:68933391 [GRCh38]
Chr11:68700859 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.547+227dup |
duplication |
not provided [RCV001686055] |
Chr11:68908842..68908843 [GRCh38]
Chr11:68676310..68676311 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1235+511T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173364] |
Chr11:68929868 [GRCh38]
Chr11:68697336 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001308875]|Charcot-Marie-Tooth disease [RCV001173560]|not provided [RCV001811681] |
Chr11:68934531 [GRCh38]
Chr11:68701999 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.912+259C>T |
single nucleotide variant |
not provided [RCV001583170] |
Chr11:68915282 [GRCh38]
Chr11:68682750 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1537+160C>T |
single nucleotide variant |
not provided [RCV001585439] |
Chr11:68934073 [GRCh38]
Chr11:68701541 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173564] |
Chr11:68938257 [GRCh38]
Chr11:68705725 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173577]|Inborn genetic diseases [RCV002339426] |
Chr11:68903956 [GRCh38]
Chr11:68671424 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001873613]|Charcot-Marie-Tooth disease [RCV001173334] |
Chr11:68934473 [GRCh38]
Chr11:68701941 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173337]|not provided [RCV003227920] |
Chr11:68936287 [GRCh38]
Chr11:68703755 [GRCh37]
Chr11:11q13.3 |
likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173349] |
Chr11:68937028 [GRCh38]
Chr11:68704496 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1235+519C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173365] |
Chr11:68929876 [GRCh38]
Chr11:68697344 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001047779] |
Chr11:68906071 [GRCh38]
Chr11:68673539 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.912+144T>C |
single nucleotide variant |
not provided [RCV001580913] |
Chr11:68915167 [GRCh38]
Chr11:68682635 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1756+133T>C |
single nucleotide variant |
not provided [RCV001527883] |
Chr11:68935555 [GRCh38]
Chr11:68703023 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001048341] |
Chr11:68933904 [GRCh38]
Chr11:68701372 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2611+288C>T |
single nucleotide variant |
not provided [RCV001536958] |
Chr11:68937379 [GRCh38]
Chr11:68704847 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2039del (p.Gln680fs) |
deletion |
not provided [RCV001548573] |
Chr11:68936519 [GRCh38]
Chr11:68703987 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2785-67A>G |
single nucleotide variant |
not provided [RCV001651970] |
Chr11:68939467 [GRCh38]
Chr11:68706935 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001067659] |
Chr11:68906206 [GRCh38]
Chr11:68673674 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001204582]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002285021]|Charcot-Marie-Tooth disease axonal type 2S [RCV002271630]|not provided [RCV002285454] |
Chr11:68937020 [GRCh38]
Chr11:68704488 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001219719]|Inborn genetic diseases [RCV003163690] |
Chr11:68939570 [GRCh38]
Chr11:68707038 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001214155] |
Chr11:68929210 [GRCh38]
Chr11:68696678 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001234526] |
Chr11:68906207 [GRCh38]
Chr11:68673675 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001236703]|not provided [RCV001509407] |
Chr11:68917809 [GRCh38]
Chr11:68685277 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001206470] |
Chr11:68935365 [GRCh38]
Chr11:68702833 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1325A>G (p.Tyr442Cys) |
single nucleotide variant |
Distal spinal muscular atrophy [RCV001027459] |
Chr11:68933388 [GRCh38]
Chr11:68700856 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001057201]|Autosomal recessive distal spinal muscular atrophy 1 [RCV001111941] |
Chr11:68933412 [GRCh38]
Chr11:68700880 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001038924] |
Chr11:68935318 [GRCh38]
Chr11:68702786 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001036717] |
Chr11:68936905 [GRCh38]
Chr11:68704373 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001053692] |
Chr11:68929252 [GRCh38]
Chr11:68696720 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001113752]|Autosomal recessive distal spinal muscular atrophy 1 [RCV002556221] |
Chr11:68936438 [GRCh38]
Chr11:68703906 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1537+9G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003769848]|Charcot-Marie-Tooth disease [RCV001172580] |
Chr11:68933922 [GRCh38]
Chr11:68701390 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001237313] |
Chr11:68911480 [GRCh38]
Chr11:68678948 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174184] |
Chr11:68908294 [GRCh38]
Chr11:68675762 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001432753]|Charcot-Marie-Tooth disease [RCV001172571] |
Chr11:68908161 [GRCh38]
Chr11:68675629 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.450-13T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001174188] |
Chr11:68908521 [GRCh38]
Chr11:68675989 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1538-11_1538-8del |
microsatellite |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002559671]|Charcot-Marie-Tooth disease [RCV001174200] |
Chr11:68934446..68934449 [GRCh38]
Chr11:68701914..68701917 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001215120]|Inborn genetic diseases [RCV002375182] |
Chr11:68917742 [GRCh38]
Chr11:68685210 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001230597]|Inborn genetic diseases [RCV002436894]|not provided [RCV002261313] |
Chr11:68939601 [GRCh38]
Chr11:68707069 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001204258] |
Chr11:68917745 [GRCh38]
Chr11:68685213 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001055050] |
Chr11:68908180 [GRCh38]
Chr11:68675648 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001059603]|Inborn genetic diseases [RCV002393289]|not provided [RCV003132191] |
Chr11:68933799 [GRCh38]
Chr11:68701267 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001228324] |
Chr11:68933905 [GRCh38]
Chr11:68701373 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002068057]|Charcot-Marie-Tooth disease [RCV001172577]|not provided [RCV001586018] |
Chr11:68939680 [GRCh38]
Chr11:68707148 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu) |
indel |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001049709] |
Chr11:68933357..68933358 [GRCh38]
Chr11:68700825..68700826 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173333] |
Chr11:68936972 [GRCh38]
Chr11:68704440 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV001173565] |
Chr11:68908226 [GRCh38]
Chr11:68675694 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001064282] |
Chr11:68936638 [GRCh38]
Chr11:68704106 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.548-19G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003769854]|Charcot-Marie-Tooth disease [RCV001174183] |
Chr11:68911421 [GRCh38]
Chr11:68678889 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1061-19G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003769855]|Charcot-Marie-Tooth disease [RCV001174187] |
Chr11:68929164 [GRCh38]
Chr11:68696632 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001064733]|Charcot-Marie-Tooth disease [RCV001173572] |
Chr11:68938326 [GRCh38]
Chr11:68705794 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001064775]|Inborn genetic diseases [RCV002436657] |
Chr11:68939561 [GRCh38]
Chr11:68707029 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001055972] |
Chr11:68936863 [GRCh38]
Chr11:68704331 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001047379]|Inborn genetic diseases [RCV003160363] |
Chr11:68936443 [GRCh38]
Chr11:68703911 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001038587] |
Chr11:68936839 [GRCh38]
Chr11:68704307 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001038862] |
Chr11:68906198 [GRCh38]
Chr11:68673666 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001057100] |
Chr11:68908554 [GRCh38]
Chr11:68676022 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001203825]|not provided [RCV003132264] |
Chr11:68936975 [GRCh38]
Chr11:68704443 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001111835]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003769126] |
Chr11:68908191 [GRCh38]
Chr11:68675659 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.*465C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001112593] |
Chr11:68940196 [GRCh38]
Chr11:68707664 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001049214] |
Chr11:68933907 [GRCh38]
Chr11:68701375 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.34_35insCC (p.Lys12fs) |
insertion |
Spinal muscular atrophy [RCV001267659] |
Chr11:68903986..68903987 [GRCh38]
Chr11:68671454..68671455 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1139C>T (p.Ala380Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001261533] |
Chr11:68929261 [GRCh38]
Chr11:68696729 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1537+5G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2S [RCV001332101] |
Chr11:68933918 [GRCh38]
Chr11:68701386 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.920A>G (p.Asn307Ser) |
single nucleotide variant |
not provided [RCV001812327] |
Chr11:68917743 [GRCh38]
Chr11:68685211 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001327628] |
Chr11:68908566 [GRCh38]
Chr11:68676034 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1235+10del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001467528]|not provided [RCV001289092] |
Chr11:68929364 [GRCh38]
Chr11:68696832 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001341636]|not provided [RCV003130482] |
Chr11:68911514 [GRCh38]
Chr11:68678982 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001307712] |
Chr11:68936290 [GRCh38]
Chr11:68703758 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001327614] |
Chr11:68911499 [GRCh38]
Chr11:68678967 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001340338]|Inborn genetic diseases [RCV002412067]|not provided [RCV001726488] |
Chr11:68906166 [GRCh38]
Chr11:68673634 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2374G>A (p.Ala792Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001301622] |
Chr11:68936854 [GRCh38]
Chr11:68704322 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001316971]|Charcot-Marie-Tooth disease axonal type 2S [RCV001823196] |
Chr11:68938206 [GRCh38]
Chr11:68705674 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001321388] |
Chr11:68937091 [GRCh38]
Chr11:68704559 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2816A>G (p.His939Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001309063] |
Chr11:68939565 [GRCh38]
Chr11:68707033 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1022G>A (p.Ser341Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001320744] |
Chr11:68917845 [GRCh38]
Chr11:68685313 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001351738]|not provided [RCV003132455] |
Chr11:68936475 [GRCh38]
Chr11:68703943 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2008G>T (p.Ala670Ser) |
single nucleotide variant |
not provided [RCV001310975] |
Chr11:68936488 [GRCh38]
Chr11:68703956 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1568A>G (p.Gln523Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001319360] |
Chr11:68934494 [GRCh38]
Chr11:68701962 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001383330] |
Chr11:68914872..68914876 [GRCh38]
Chr11:68682340..68682344 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001373227]|Inborn genetic diseases [RCV002329398]|not provided [RCV001773736] |
Chr11:68908535 [GRCh38]
Chr11:68676003 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001308213]|Inborn genetic diseases [RCV002357120] |
Chr11:68929335 [GRCh38]
Chr11:68696803 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001314406]|Inborn genetic diseases [RCV002431891]|not provided [RCV003130260] |
Chr11:68936668 [GRCh38]
Chr11:68704136 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NC_000011.9:g.(?_59596957)_(68707199_?)dup |
duplication |
Familial temporal lobe epilepsy 8 [RCV001372442] |
Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001373459] |
Chr11:68929189 [GRCh38]
Chr11:68696657 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.679A>G (p.Ile227Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001362616] |
Chr11:68911571 [GRCh38]
Chr11:68679039 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.361T>A (p.Ser121Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001295052] |
Chr11:68908249 [GRCh38]
Chr11:68675717 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.581C>T (p.Thr194Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001360675] |
Chr11:68911473 [GRCh38]
Chr11:68678941 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1344C>T (p.Ile448=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001415084] |
Chr11:68933407 [GRCh38]
Chr11:68700875 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.257-4G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001392078] |
Chr11:68908141 [GRCh38]
Chr11:68675609 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.730T>G (p.Ser244Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001372032] |
Chr11:68914841 [GRCh38]
Chr11:68682309 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2425C>T (p.Pro809Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001373141] |
Chr11:68936905 [GRCh38]
Chr11:68704373 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001345648] |
Chr11:68914826 [GRCh38]
Chr11:68682294 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.242A>G (p.Asn81Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001295887] |
Chr11:68906224 [GRCh38]
Chr11:68673692 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.727C>T (p.Pro243Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2S [RCV001336446]|Inborn genetic diseases [RCV002384446] |
Chr11:68914838 [GRCh38]
Chr11:68682306 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001346797] |
Chr11:68936536 [GRCh38]
Chr11:68704004 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001360797]|not provided [RCV003130499] |
Chr11:68917829 [GRCh38]
Chr11:68685297 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1952A>G (p.Tyr651Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001316642] |
Chr11:68936432 [GRCh38]
Chr11:68703900 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2821C>A (p.Arg941=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001301814] |
Chr11:68939570 [GRCh38]
Chr11:68707038 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1669C>A (p.Pro557Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001321961] |
Chr11:68935335 [GRCh38]
Chr11:68702803 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.367G>C (p.Asp123His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001343942] |
Chr11:68908255 [GRCh38]
Chr11:68675723 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001314887] |
Chr11:68939695 [GRCh38]
Chr11:68707163 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2002G>A (p.Gly668Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001324402] |
Chr11:68936482 [GRCh38]
Chr11:68703950 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001323404] |
Chr11:68906085 [GRCh38]
Chr11:68673553 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.644C>G (p.Pro215Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001345311] |
Chr11:68911536 [GRCh38]
Chr11:68679004 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2897G>A (p.Arg966Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001347931] |
Chr11:68939646 [GRCh38]
Chr11:68707114 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.809G>A (p.Arg270His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001344505] |
Chr11:68914920 [GRCh38]
Chr11:68682388 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2460_2474dup (p.Glu821_Pro825dup) |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001363870] |
Chr11:68936939..68936940 [GRCh38]
Chr11:68704407..68704408 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001299273] |
Chr11:68936702 [GRCh38]
Chr11:68704170 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1783C>T (p.Arg595Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001360430] |
Chr11:68936263 [GRCh38]
Chr11:68703731 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001367454] |
Chr11:68914958 [GRCh38]
Chr11:68682426 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.500T>C (p.Ile167Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001368833] |
Chr11:68908584 [GRCh38]
Chr11:68676052 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001326573] |
Chr11:68938247 [GRCh38]
Chr11:68705715 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001298595]|Inborn genetic diseases [RCV002418898] |
Chr11:68936561 [GRCh38]
Chr11:68704029 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2943C>T (p.Ser981=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001396061] |
Chr11:68939692 [GRCh38]
Chr11:68707160 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2858G>T (p.Gly953Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001294556] |
Chr11:68939607 [GRCh38]
Chr11:68707075 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001377632] |
Chr11:68935396 [GRCh38]
Chr11:68702864 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.2475A>T (p.Pro825=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001416905] |
Chr11:68936955 [GRCh38]
Chr11:68704423 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2925G>A (p.Lys975=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001457295]|IGHMBP2-related condition [RCV003908682] |
Chr11:68939674 [GRCh38]
Chr11:68707142 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2307C>T (p.His769=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001504614] |
Chr11:68936787 [GRCh38]
Chr11:68704255 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1140C>T (p.Ala380=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001482888] |
Chr11:68929262 [GRCh38]
Chr11:68696730 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1756+8G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001480264] |
Chr11:68935430 [GRCh38]
Chr11:68702898 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2079_2080delinsGT (p.Arg694Trp) |
indel |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001492963] |
Chr11:68936559..68936560 [GRCh38]
Chr11:68704027..68704028 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.489C>T (p.Ala163=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001457065] |
Chr11:68908573 [GRCh38]
Chr11:68676041 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1902G>A (p.Gly634=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001488032]|not provided [RCV003399251] |
Chr11:68936382 [GRCh38]
Chr11:68703850 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.609G>A (p.Ala203=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001468867] |
Chr11:68911501 [GRCh38]
Chr11:68678969 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1530G>A (p.Gly510=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001430120] |
Chr11:68933906 [GRCh38]
Chr11:68701374 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001389576] |
Chr11:68908261 [GRCh38]
Chr11:68675729 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2703G>A (p.Lys901=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001438799] |
Chr11:68938273 [GRCh38]
Chr11:68705741 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.315C>A (p.Ile105=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001405005] |
Chr11:68908203 [GRCh38]
Chr11:68675671 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1407G>A (p.Arg469=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001435939] |
Chr11:68933470 [GRCh38]
Chr11:68700938 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.951T>C (p.Ser317=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001417470] |
Chr11:68917774 [GRCh38]
Chr11:68685242 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.257-5T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001441989] |
Chr11:68908140 [GRCh38]
Chr11:68675608 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1110C>T (p.Asp370=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001442210] |
Chr11:68929232 [GRCh38]
Chr11:68696700 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001408263]|not provided [RCV001562377] |
Chr11:68906166 [GRCh38]
Chr11:68673634 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NC_000011.9:g.(?_68682281)_(68682501_?)del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001377059] |
Chr11:68682281..68682501 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1538-257C>G |
single nucleotide variant |
not provided [RCV001535062] |
Chr11:68934207 [GRCh38]
Chr11:68701675 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.399C>G (p.Ser133=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001438178] |
Chr11:68908287 [GRCh38]
Chr11:68675755 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.913-6T>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001406608] |
Chr11:68917730 [GRCh38]
Chr11:68685198 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2685C>T (p.Asn895=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001458020] |
Chr11:68938255 [GRCh38]
Chr11:68705723 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2069C>G (p.Ala690Gly) |
single nucleotide variant |
not provided [RCV001509414] |
Chr11:68936549 [GRCh38]
Chr11:68704017 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1538-4C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001450872] |
Chr11:68934460 [GRCh38]
Chr11:68701928 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_181514.2(MRPL21):c.-3_-2insGAAGATGGCGGCGG |
microsatellite |
not provided [RCV001654025] |
Chr11:68903812..68903813 [GRCh38]
Chr11:68671280..68671281 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.2928G>A (p.Lys976=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001479707] |
Chr11:68939677 [GRCh38]
Chr11:68707145 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1633-124T>C |
single nucleotide variant |
not provided [RCV001669541] |
Chr11:68935175 [GRCh38]
Chr11:68702643 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1236-66G>C |
single nucleotide variant |
not provided [RCV001715670] |
Chr11:68933233 [GRCh38]
Chr11:68700701 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1167G>C (p.Leu389=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001463503] |
Chr11:68929289 [GRCh38]
Chr11:68696757 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.712-298T>G |
single nucleotide variant |
not provided [RCV001716674] |
Chr11:68914525 [GRCh38]
Chr11:68681993 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.267G>C (p.Val89=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001504488] |
Chr11:68908155 [GRCh38]
Chr11:68675623 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.175C>T (p.Leu59=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001465387] |
Chr11:68906157 [GRCh38]
Chr11:68673625 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2776C>T (p.Leu926=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001403209] |
Chr11:68938346 [GRCh38]
Chr11:68705814 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2496G>A (p.Thr832=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001476031] |
Chr11:68936976 [GRCh38]
Chr11:68704444 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.207C>T (p.Pro69=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001471057] |
Chr11:68906189 [GRCh38]
Chr11:68673657 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.256+8C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001429225] |
Chr11:68906246 [GRCh38]
Chr11:68673714 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1065G>A (p.Ala355=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001471484]|IGHMBP2-related condition [RCV003900626] |
Chr11:68929187 [GRCh38]
Chr11:68696655 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2292G>A (p.Glu764=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001419809] |
Chr11:68936772 [GRCh38]
Chr11:68704240 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001459522]|not provided [RCV003130522] |
Chr11:68933859 [GRCh38]
Chr11:68701327 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.838C>T (p.Leu280=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001453570] |
Chr11:68914949 [GRCh38]
Chr11:68682417 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1524G>A (p.Ser508=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001415929] |
Chr11:68933900 [GRCh38]
Chr11:68701368 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NC_000011.9:g.(?_68671411)_(68707209_?)del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001387105] |
Chr11:68671411..68707209 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2612-4C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001401906] |
Chr11:68938178 [GRCh38]
Chr11:68705646 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.666G>A (p.Thr222=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001400280] |
Chr11:68911558 [GRCh38]
Chr11:68679026 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.531T>C (p.Ser177=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001476737] |
Chr11:68908615 [GRCh38]
Chr11:68676083 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2496G>C (p.Thr832=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001463673] |
Chr11:68936976 [GRCh38]
Chr11:68704444 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1296G>A (p.Ala432=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001426565] |
Chr11:68933359 [GRCh38]
Chr11:68700827 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2427C>G (p.Pro809=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001477079] |
Chr11:68936907 [GRCh38]
Chr11:68704375 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.211C>A (p.Arg71=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001437862] |
Chr11:68906193 [GRCh38]
Chr11:68673661 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001401005] |
Chr11:68906150 [GRCh38]
Chr11:68673618 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.492C>T (p.Ser164=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001484235] |
Chr11:68908576 [GRCh38]
Chr11:68676044 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1632+3del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002249080] |
Chr11:68934561 [GRCh38]
Chr11:68702029 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1391A>G (p.His464Arg) |
single nucleotide variant |
Neurodevelopmental disorder [RCV002277709] |
Chr11:68933454 [GRCh38]
Chr11:68700922 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.2125C>T (p.Gln709Ter) |
single nucleotide variant |
not provided [RCV001782293] |
Chr11:68936605 [GRCh38]
Chr11:68704073 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.12A>G (p.Ala4=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003104298] |
Chr11:68903964 [GRCh38]
Chr11:68671432 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NC_000011.10:g.68903846del |
deletion |
not provided [RCV002284961] |
Chr11:68903845 [GRCh38]
Chr11:68671313 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1660C>T (p.His554Tyr) |
single nucleotide variant |
not provided [RCV001754452] |
Chr11:68935326 [GRCh38]
Chr11:68702794 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001868494]|not provided [RCV001767884] |
Chr11:68906166 [GRCh38]
Chr11:68673634 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2609A>C (p.Lys870Thr) |
single nucleotide variant |
not provided [RCV001754266] |
Chr11:68937089 [GRCh38]
Chr11:68704557 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2230T>A (p.Leu744Met) |
single nucleotide variant |
not provided [RCV001797325] |
Chr11:68936710 [GRCh38]
Chr11:68704178 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1456G>A (p.Val486Met) |
single nucleotide variant |
not provided [RCV001758747] |
Chr11:68933832 [GRCh38]
Chr11:68701300 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1373T>G (p.Leu458Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002003700] |
Chr11:68933436 [GRCh38]
Chr11:68700904 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001837045] |
Chr11:68933839 [GRCh38]
Chr11:68701307 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.947A>G (p.Lys316Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001871500] |
Chr11:68917770 [GRCh38]
Chr11:68685238 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2438C>A (p.Ala813Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001915223] |
Chr11:68936918 [GRCh38]
Chr11:68704386 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001929258] |
Chr11:68933853 [GRCh38]
Chr11:68701321 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1117G>T (p.Val373Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001864023] |
Chr11:68929239 [GRCh38]
Chr11:68696707 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001950425]|Inborn genetic diseases [RCV002388903] |
Chr11:68933795 [GRCh38]
Chr11:68701263 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.598G>A (p.Val200Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001926423] |
Chr11:68911490 [GRCh38]
Chr11:68678958 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2183A>T (p.His728Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001863388] |
Chr11:68936663 [GRCh38]
Chr11:68704131 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1334A>G (p.His445Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002024617] |
Chr11:68933397 [GRCh38]
Chr11:68700865 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.772T>C (p.Cys258Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001908715] |
Chr11:68914883 [GRCh38]
Chr11:68682351 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2191G>A (p.Ala731Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001969070]|Inborn genetic diseases [RCV003264344] |
Chr11:68936671 [GRCh38]
Chr11:68704139 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2185T>C (p.Phe729Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001911255] |
Chr11:68936665 [GRCh38]
Chr11:68704133 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.467del (p.Lys156fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001912495] |
Chr11:68908549 [GRCh38]
Chr11:68676017 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001986510] |
Chr11:68906155 [GRCh38]
Chr11:68673623 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1136A>G (p.Gln379Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002008159] |
Chr11:68929258 [GRCh38]
Chr11:68696726 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1051A>G (p.Thr351Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002023067] |
Chr11:68917874 [GRCh38]
Chr11:68685342 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2606_2611dup (p.Ala869_Lys870dup) |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002023125] |
Chr11:68937081..68937082 [GRCh38]
Chr11:68704549..68704550 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1537+17A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001872908] |
Chr11:68933930 [GRCh38]
Chr11:68701398 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.333G>C (p.Gln111His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001964788] |
Chr11:68908221 [GRCh38]
Chr11:68675689 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1664G>A (p.Arg555Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001984374] |
Chr11:68935330 [GRCh38]
Chr11:68702798 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2857G>T (p.Gly953Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001911763] |
Chr11:68939606 [GRCh38]
Chr11:68707074 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001891992] |
Chr11:68933368..68933413 [GRCh38]
Chr11:68700836..68700881 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2173G>A (p.Gly725Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001969428] |
Chr11:68936653 [GRCh38]
Chr11:68704121 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1079C>G (p.Pro360Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001984953] |
Chr11:68929201 [GRCh38]
Chr11:68696669 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001968794]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003147716] |
Chr11:68929248 [GRCh38]
Chr11:68696716 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.2954C>G (p.Thr985Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002006942] |
Chr11:68939703 [GRCh38]
Chr11:68707171 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1323G>C (p.Gln441His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001908269] |
Chr11:68933386 [GRCh38]
Chr11:68700854 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002032700]|Charcot-Marie-Tooth disease axonal type 2S [RCV002051592] |
Chr11:68939545 [GRCh38]
Chr11:68707013 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.686T>G (p.Leu229Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002015734] |
Chr11:68911578 [GRCh38]
Chr11:68679046 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2798G>T (p.Gly933Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001888689] |
Chr11:68939547 [GRCh38]
Chr11:68707015 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001996462]|not provided [RCV003883737] |
Chr11:68908255 [GRCh38]
Chr11:68675723 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.333G>T (p.Gln111His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001935961] |
Chr11:68908221 [GRCh38]
Chr11:68675689 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1058C>G (p.Thr353Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001962166] |
Chr11:68917881 [GRCh38]
Chr11:68685349 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001972476]|not specified [RCV003331249] |
Chr11:68914901 [GRCh38]
Chr11:68682369 [GRCh37]
Chr11:11q13.3 |
pathogenic|uncertain significance |
| NM_002180.3(IGHMBP2):c.2977A>C (p.Thr993Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001992180] |
Chr11:68939726 [GRCh38]
Chr11:68707194 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2012C>G (p.Thr671Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002016162] |
Chr11:68936492 [GRCh38]
Chr11:68703960 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001902547]|Inborn genetic diseases [RCV002552177] |
Chr11:68934486 [GRCh38]
Chr11:68701954 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2592G>T (p.Lys864Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001995631] |
Chr11:68937072 [GRCh38]
Chr11:68704540 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2116G>A (p.Ala706Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001990072] |
Chr11:68936596 [GRCh38]
Chr11:68704064 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.532C>T (p.Pro178Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001936637] |
Chr11:68908616 [GRCh38]
Chr11:68676084 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.739G>A (p.Ala247Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001864975]|Inborn genetic diseases [RCV002386616] |
Chr11:68914850 [GRCh38]
Chr11:68682318 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1539C>T (p.Gly513=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001915887] |
Chr11:68934465 [GRCh38]
Chr11:68701933 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.2375C>T (p.Ala792Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001877192]|Inborn genetic diseases [RCV002458686] |
Chr11:68936855 [GRCh38]
Chr11:68704323 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1762G>A (p.Val588Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001974971] |
Chr11:68936242 [GRCh38]
Chr11:68703710 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1041_1043del (p.Val348del) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002030405] |
Chr11:68917862..68917864 [GRCh38]
Chr11:68685330..68685332 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2513T>G (p.Leu838Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001886281] |
Chr11:68936993 [GRCh38]
Chr11:68704461 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2756G>A (p.Arg919His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001992330]|Inborn genetic diseases [RCV002441176] |
Chr11:68938326 [GRCh38]
Chr11:68705794 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2617C>G (p.Pro873Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001935026] |
Chr11:68938187 [GRCh38]
Chr11:68705655 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2785-3C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001992294] |
Chr11:68939531 [GRCh38]
Chr11:68706999 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.154G>A (p.Val52Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002014433] |
Chr11:68906136 [GRCh38]
Chr11:68673604 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001879091] |
Chr11:68911588..68911592 [GRCh38]
Chr11:68679056..68679060 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.193G>T (p.Val65Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002045886]|Inborn genetic diseases [RCV002407300] |
Chr11:68906175 [GRCh38]
Chr11:68673643 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2599A>G (p.Lys867Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001900933] |
Chr11:68937079 [GRCh38]
Chr11:68704547 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002035238] |
Chr11:68906193 [GRCh38]
Chr11:68673661 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.464T>C (p.Leu155Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001917390] |
Chr11:68908548 [GRCh38]
Chr11:68676016 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1805C>T (p.Thr602Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001996976] |
Chr11:68936285 [GRCh38]
Chr11:68703753 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.250A>G (p.Thr84Ala) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001885520] |
Chr11:68906232 [GRCh38]
Chr11:68673700 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.531T>G (p.Ser177Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002017921] |
Chr11:68908615 [GRCh38]
Chr11:68676083 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.844G>A (p.Ala282Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001978584] |
Chr11:68914955 [GRCh38]
Chr11:68682423 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1597C>T (p.Arg533Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001931369]|not provided [RCV003134264] |
Chr11:68934523 [GRCh38]
Chr11:68701991 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.547_547+1insTTCTGAGT |
insertion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002015222] |
Chr11:68908631..68908632 [GRCh38]
Chr11:68676099..68676100 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1564A>G (p.Ile522Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001870462] |
Chr11:68934490 [GRCh38]
Chr11:68701958 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002048122]|not provided [RCV003134345] |
Chr11:68936918 [GRCh38]
Chr11:68704386 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.860G>A (p.Ser287Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002048052] |
Chr11:68914971 [GRCh38]
Chr11:68682439 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2209A>G (p.Met737Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001883203] |
Chr11:68936689 [GRCh38]
Chr11:68704157 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2648T>C (p.Phe883Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002013762] |
Chr11:68938218 [GRCh38]
Chr11:68705686 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1984G>A (p.Ala662Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV001979471] |
Chr11:68936464 [GRCh38]
Chr11:68703932 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2861G>A (p.Ser954Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002047508] |
Chr11:68939610 [GRCh38]
Chr11:68707078 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2043G>C (p.Glu681Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002011899] |
Chr11:68936523 [GRCh38]
Chr11:68703991 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2433C>T (p.Thr811=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002110516] |
Chr11:68936913 [GRCh38]
Chr11:68704381 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2121A>C (p.Pro707=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002209185] |
Chr11:68936601 [GRCh38]
Chr11:68704069 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1061-15C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002129341] |
Chr11:68929168 [GRCh38]
Chr11:68696636 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1701C>T (p.Phe567=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002190001] |
Chr11:68935367 [GRCh38]
Chr11:68702835 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2724C>T (p.Thr908=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002146741] |
Chr11:68938294 [GRCh38]
Chr11:68705762 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.216C>T (p.Tyr72=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002085572] |
Chr11:68906198 [GRCh38]
Chr11:68673666 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002147899]|not provided [RCV003120826] |
Chr11:68939611 [GRCh38]
Chr11:68707079 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1060+11G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002187435] |
Chr11:68917894 [GRCh38]
Chr11:68685362 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.813C>A (p.Leu271=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002145231] |
Chr11:68914924 [GRCh38]
Chr11:68682392 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002213464] |
Chr11:68936274 [GRCh38]
Chr11:68703742 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1974T>G (p.Gly658=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002095701]|not provided [RCV003403687] |
Chr11:68936454 [GRCh38]
Chr11:68703922 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.129A>G (p.Arg43=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002215372] |
Chr11:68906111 [GRCh38]
Chr11:68673579 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.162C>T (p.Ser54=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002166786] |
Chr11:68906144 [GRCh38]
Chr11:68673612 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2611+9A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002127726] |
Chr11:68937100 [GRCh38]
Chr11:68704568 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.324G>A (p.Arg108=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002206585] |
Chr11:68908212 [GRCh38]
Chr11:68675680 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1143C>G (p.Leu381=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002113458] |
Chr11:68929265 [GRCh38]
Chr11:68696733 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.891G>A (p.Arg297=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002215111] |
Chr11:68915002 [GRCh38]
Chr11:68682470 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1488C>T (p.Cys496=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002194051]|IGHMBP2-related condition [RCV003896045] |
Chr11:68933864 [GRCh38]
Chr11:68701332 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1983C>T (p.His661=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002097422] |
Chr11:68936463 [GRCh38]
Chr11:68703931 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1418+12G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002115456] |
Chr11:68933493 [GRCh38]
Chr11:68700961 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2612-10T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002088957] |
Chr11:68938172 [GRCh38]
Chr11:68705640 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.453C>T (p.Ala151=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002172372] |
Chr11:68908537 [GRCh38]
Chr11:68676005 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2346G>A (p.Val782=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002135097] |
Chr11:68936826 [GRCh38]
Chr11:68704294 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2448G>A (p.Glu816=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002149569] |
Chr11:68936928 [GRCh38]
Chr11:68704396 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.177G>A (p.Leu59=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002147692] |
Chr11:68906159 [GRCh38]
Chr11:68673627 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.548-12C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002115347] |
Chr11:68911428 [GRCh38]
Chr11:68678896 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.108T>G (p.Ser36=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002212876] |
Chr11:68906090 [GRCh38]
Chr11:68673558 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002170677]|Inborn genetic diseases [RCV002372847] |
Chr11:68917775 [GRCh38]
Chr11:68685243 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.711+12A>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002213294] |
Chr11:68911615 [GRCh38]
Chr11:68679083 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.342C>A (p.Val114=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002192193] |
Chr11:68908230 [GRCh38]
Chr11:68675698 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2611+12A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002152029] |
Chr11:68937103 [GRCh38]
Chr11:68704571 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2901C>T (p.Ala967=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002182013] |
Chr11:68939650 [GRCh38]
Chr11:68707118 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1791C>T (p.Ile597=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002155191] |
Chr11:68936271 [GRCh38]
Chr11:68703739 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+950C>T |
single nucleotide variant |
not provided [RCV002222835] |
Chr11:68930307 [GRCh38]
Chr11:68697775 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1236-4G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002164772] |
Chr11:68933295 [GRCh38]
Chr11:68700763 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.711+15C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002141607] |
Chr11:68911618 [GRCh38]
Chr11:68679086 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1756+17A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002100767] |
Chr11:68935439 [GRCh38]
Chr11:68702907 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1260C>G (p.Leu420=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002144497] |
Chr11:68933323 [GRCh38]
Chr11:68700791 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1386A>G (p.Thr462=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002154242] |
Chr11:68933449 [GRCh38]
Chr11:68700917 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.552G>A (p.Pro184=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002154310] |
Chr11:68911444 [GRCh38]
Chr11:68678912 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2415C>G (p.Leu805=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002120825] |
Chr11:68936895 [GRCh38]
Chr11:68704363 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+7C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002160197]|not provided [RCV002222272] |
Chr11:68929364 [GRCh38]
Chr11:68696832 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1539C>G (p.Gly513=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002121209] |
Chr11:68934465 [GRCh38]
Chr11:68701933 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.927G>A (p.Lys309=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002184845] |
Chr11:68917750 [GRCh38]
Chr11:68685218 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2958C>T (p.Ser986=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002200474] |
Chr11:68939707 [GRCh38]
Chr11:68707175 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.548-13G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002219773] |
Chr11:68911427 [GRCh38]
Chr11:68678895 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1538-4C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002101694] |
Chr11:68934460 [GRCh38]
Chr11:68701928 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.87-9G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003110792] |
Chr11:68906060 [GRCh38]
Chr11:68673528 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2569G>A (p.Gly857Arg) |
single nucleotide variant |
not provided [RCV002244339] |
Chr11:68937049 [GRCh38]
Chr11:68704517 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1393T>C (p.Ser465Pro) |
single nucleotide variant |
not provided [RCV003131261] |
Chr11:68933456 [GRCh38]
Chr11:68700924 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2269C>T (p.Arg757Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003296365] |
Chr11:68936749 [GRCh38]
Chr11:68704217 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.387C>G (p.Asp129Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002366291] |
Chr11:68908275 [GRCh38]
Chr11:68675743 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.623A>G (p.Glu208Gly) |
single nucleotide variant |
not provided [RCV002261929] |
Chr11:68911515 [GRCh38]
Chr11:68678983 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1374T>C (p.Leu458=) |
single nucleotide variant |
not provided [RCV002262361] |
Chr11:68933437 [GRCh38]
Chr11:68700905 [GRCh37]
Chr11:11q13.3 |
likely benign |
| GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1493T>C (p.Leu498Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002267553] |
Chr11:68933869 [GRCh38]
Chr11:68701337 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.2606C>T (p.Ala869Val) |
single nucleotide variant |
not provided [RCV002293712] |
Chr11:68937086 [GRCh38]
Chr11:68704554 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.256+5G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002285091] |
Chr11:68906243 [GRCh38]
Chr11:68673711 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.2045G>T (p.Gly682Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002419989] |
Chr11:68936525 [GRCh38]
Chr11:68703993 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2617C>T (p.Pro873Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002437209] |
Chr11:68938187 [GRCh38]
Chr11:68705655 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2828G>T (p.Arg943Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002435055] |
Chr11:68939577 [GRCh38]
Chr11:68707045 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1235+450G>A |
single nucleotide variant |
not provided [RCV003129167] |
Chr11:68929807 [GRCh38]
Chr11:68697275 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.323G>A (p.Arg108Gln) |
single nucleotide variant |
not provided [RCV003131258] |
Chr11:68908211 [GRCh38]
Chr11:68675679 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2111C>T (p.Ser704Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002417494] |
Chr11:68936591 [GRCh38]
Chr11:68704059 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.605T>C (p.Phe202Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002358312] |
Chr11:68911497 [GRCh38]
Chr11:68678965 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2348G>A (p.Ser783Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002448348] |
Chr11:68936828 [GRCh38]
Chr11:68704296 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.295A>G (p.Ser99Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002441955] |
Chr11:68908183 [GRCh38]
Chr11:68675651 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.912T>C (p.Phe304=) |
single nucleotide variant |
Inborn genetic diseases [RCV002378740] |
Chr11:68915023 [GRCh38]
Chr11:68682491 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.703G>A (p.Gly235Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002364951] |
Chr11:68911595 [GRCh38]
Chr11:68679063 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.475_477del (p.His159del) |
deletion |
Inborn genetic diseases [RCV002330627] |
Chr11:68908557..68908559 [GRCh38]
Chr11:68676025..68676027 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1345A>G (p.Met449Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002387798] |
Chr11:68933408 [GRCh38]
Chr11:68700876 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2545G>C (p.Ala849Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002433261] |
Chr11:68937025 [GRCh38]
Chr11:68704493 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2387C>T (p.Pro796Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002428544] |
Chr11:68936867 [GRCh38]
Chr11:68704335 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1418+4A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002391728] |
Chr11:68933485 [GRCh38]
Chr11:68700953 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.845C>T (p.Ala282Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002447548] |
Chr11:68914956 [GRCh38]
Chr11:68682424 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.241A>G (p.Asn81Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002450384] |
Chr11:68906223 [GRCh38]
Chr11:68673691 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1633G>A (p.Val545Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002401331] |
Chr11:68935299 [GRCh38]
Chr11:68702767 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1571C>G (p.Ala524Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002405660] |
Chr11:68934497 [GRCh38]
Chr11:68701965 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.58G>A (p.Glu20Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002355691] |
Chr11:68904010 [GRCh38]
Chr11:68671478 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.190C>G (p.Leu64Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002408427] |
Chr11:68906172 [GRCh38]
Chr11:68673640 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003097150]|Inborn genetic diseases [RCV002398846] |
Chr11:68935375 [GRCh38]
Chr11:68702843 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.305C>A (p.Ala102Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002444183]|not provided [RCV003328705] |
Chr11:68908193 [GRCh38]
Chr11:68675661 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.913-5T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002378753] |
Chr11:68917731 [GRCh38]
Chr11:68685199 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.193G>A (p.Val65Ile) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002303403] |
Chr11:68906175 [GRCh38]
Chr11:68673643 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.854C>T (p.Ala285Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002447825] |
Chr11:68914965 [GRCh38]
Chr11:68682433 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003100064]|Inborn genetic diseases [RCV002376212] |
Chr11:68915005 [GRCh38]
Chr11:68682473 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2058_2063del (p.Ala687_Ala688del) |
deletion |
Inborn genetic diseases [RCV002421902] |
Chr11:68936536..68936541 [GRCh38]
Chr11:68704004..68704009 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2618C>G (p.Pro873Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002426371] |
Chr11:68938188 [GRCh38]
Chr11:68705656 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2513T>C (p.Leu838Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002432957] |
Chr11:68936993 [GRCh38]
Chr11:68704461 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.516C>T (p.Gly172=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002727015] |
Chr11:68908600 [GRCh38]
Chr11:68676068 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002518403] |
Chr11:68911552 [GRCh38]
Chr11:68679020 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.364C>A (p.His122Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003033248] |
Chr11:68908252 [GRCh38]
Chr11:68675720 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1910G>A (p.Arg637His) |
single nucleotide variant |
Inborn genetic diseases [RCV003012648] |
Chr11:68936390 [GRCh38]
Chr11:68703858 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.551C>G (p.Pro184Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002685882] |
Chr11:68911443 [GRCh38]
Chr11:68678911 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2354G>A (p.Arg785Lys) |
single nucleotide variant |
not provided [RCV003131259] |
Chr11:68936834 [GRCh38]
Chr11:68704302 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.449+8G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002857912] |
Chr11:68908345 [GRCh38]
Chr11:68675813 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2785-7_2785-4del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002970685] |
Chr11:68939525..68939528 [GRCh38]
Chr11:68706993..68706996 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2152G>C (p.Glu718Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002756689] |
Chr11:68936632 [GRCh38]
Chr11:68704100 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1014G>A (p.Met338Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002841248] |
Chr11:68917837 [GRCh38]
Chr11:68685305 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1757-9C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002755128] |
Chr11:68936228 [GRCh38]
Chr11:68703696 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002903764] |
Chr11:68911505 [GRCh38]
Chr11:68678973 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs) |
insertion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002881604] |
Chr11:68908205..68908206 [GRCh38]
Chr11:68675673..68675674 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2894A>G (p.Lys965Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002861574] |
Chr11:68939643 [GRCh38]
Chr11:68707111 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.273G>A (p.Leu91=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002614332] |
Chr11:68908161 [GRCh38]
Chr11:68675629 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002908168] |
Chr11:68933435 [GRCh38]
Chr11:68700903 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003035573] |
Chr11:68936829 [GRCh38]
Chr11:68704297 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002953707] |
Chr11:68935347 [GRCh38]
Chr11:68702815 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003003299] |
Chr11:68936339 [GRCh38]
Chr11:68703807 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.548-9C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002780749] |
Chr11:68911431 [GRCh38]
Chr11:68678899 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1060+18T>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003003109] |
Chr11:68917901 [GRCh38]
Chr11:68685369 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.712-10C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002949016] |
Chr11:68914813 [GRCh38]
Chr11:68682281 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.449+13G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002867019] |
Chr11:68908350 [GRCh38]
Chr11:68675818 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1633-15C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002795428] |
Chr11:68935284 [GRCh38]
Chr11:68702752 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.711+16C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002760228] |
Chr11:68911619 [GRCh38]
Chr11:68679087 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1632+13C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003053069] |
Chr11:68934571 [GRCh38]
Chr11:68702039 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1061-20C>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002998815] |
Chr11:68929163 [GRCh38]
Chr11:68696631 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003037795] |
Chr11:68939601 [GRCh38]
Chr11:68707069 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.435C>T (p.Tyr145=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003019979] |
Chr11:68908323 [GRCh38]
Chr11:68675791 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.553C>T (p.Leu185=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003079529] |
Chr11:68911445 [GRCh38]
Chr11:68678913 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2611+14dup |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002570179] |
Chr11:68937104..68937105 [GRCh38]
Chr11:68704572..68704573 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs) |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003078163] |
Chr11:68936446..68936447 [GRCh38]
Chr11:68703914..68703915 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003002091] |
Chr11:68939537 [GRCh38]
Chr11:68707005 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002796996] |
Chr11:68936932 [GRCh38]
Chr11:68704400 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1892C>G (p.Thr631Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002824863] |
Chr11:68936372 [GRCh38]
Chr11:68703840 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1218C>G (p.Pro406=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002639188] |
Chr11:68929340 [GRCh38]
Chr11:68696808 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.712-13T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003053070] |
Chr11:68914810 [GRCh38]
Chr11:68682278 [GRCh37]
Chr11:11q13.3 |
likely benign|uncertain significance |
| NM_002180.3(IGHMBP2):c.1413C>G (p.Leu471=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003002006] |
Chr11:68933476 [GRCh38]
Chr11:68700944 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.538A>G (p.Ser180Gly) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002927209] |
Chr11:68908622 [GRCh38]
Chr11:68676090 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1236-17C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002848430] |
Chr11:68933282 [GRCh38]
Chr11:68700750 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1102T>C (p.Tyr368His) |
single nucleotide variant |
Inborn genetic diseases [RCV002870520] |
Chr11:68929224 [GRCh38]
Chr11:68696692 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002913635] |
Chr11:68937038 [GRCh38]
Chr11:68704506 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.745G>A (p.Asp249Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002597352] |
Chr11:68914856 [GRCh38]
Chr11:68682324 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2442G>A (p.Gln814=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003085756] |
Chr11:68936922 [GRCh38]
Chr11:68704390 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1905A>G (p.Glu635=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002594114] |
Chr11:68936385 [GRCh38]
Chr11:68703853 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2963G>A (p.Arg988Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003023698] |
Chr11:68939712 [GRCh38]
Chr11:68707180 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2784+15C>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002985228] |
Chr11:68938369 [GRCh38]
Chr11:68705837 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1890C>G (p.Phe630Leu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002594113] |
Chr11:68936370 [GRCh38]
Chr11:68703838 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002917373] |
Chr11:68939558 [GRCh38]
Chr11:68707026 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.375G>T (p.Gln125His) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002871942] |
Chr11:68908263 [GRCh38]
Chr11:68675731 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2607C>T (p.Ala869=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002623898] |
Chr11:68937087 [GRCh38]
Chr11:68704555 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.486A>G (p.Pro162=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002894786] |
Chr11:68908570 [GRCh38]
Chr11:68676038 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002830123] |
Chr11:68938281 [GRCh38]
Chr11:68705749 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1235+1G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002711010] |
Chr11:68929358 [GRCh38]
Chr11:68696826 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1757-17C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002872363] |
Chr11:68936220 [GRCh38]
Chr11:68703688 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003023783] |
Chr11:68929336 [GRCh38]
Chr11:68696804 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.254C>T (p.Ser85Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003085413] |
Chr11:68906236 [GRCh38]
Chr11:68673704 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1337A>C (p.Gln446Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002954940] |
Chr11:68933400 [GRCh38]
Chr11:68700868 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.189G>C (p.Leu63=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002801509] |
Chr11:68906171 [GRCh38]
Chr11:68673639 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2270G>A (p.Arg757Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002594791] |
Chr11:68936750 [GRCh38]
Chr11:68704218 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2240C>G (p.Pro747Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002982404] |
Chr11:68936720 [GRCh38]
Chr11:68704188 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2427C>T (p.Pro809=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002928184] |
Chr11:68936907 [GRCh38]
Chr11:68704375 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.912+4G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002922481] |
Chr11:68915027 [GRCh38]
Chr11:68682495 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003046189] |
Chr11:68933836 [GRCh38]
Chr11:68701304 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1713G>A (p.Glu571=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003091944] |
Chr11:68935379 [GRCh38]
Chr11:68702847 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.264C>T (p.Ile88=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002938292] |
Chr11:68908152 [GRCh38]
Chr11:68675620 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2863G>A (p.Gly955Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002966900] |
Chr11:68939612 [GRCh38]
Chr11:68707080 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003011211] |
Chr11:68904022 [GRCh38]
Chr11:68671490 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002899755] |
Chr11:68933354 [GRCh38]
Chr11:68700822 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002806743] |
Chr11:68933391 [GRCh38]
Chr11:68700859 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2266C>T (p.Leu756=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003028702] |
Chr11:68936746 [GRCh38]
Chr11:68704214 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.746A>G (p.Asp249Gly) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002746646] |
Chr11:68914857 [GRCh38]
Chr11:68682325 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002715363] |
Chr11:68911552 [GRCh38]
Chr11:68679020 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1633-12C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002645988] |
Chr11:68935287 [GRCh38]
Chr11:68702755 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002988465] |
Chr11:68936917 [GRCh38]
Chr11:68704385 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1086G>A (p.Lys362=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003063359] |
Chr11:68929208 [GRCh38]
Chr11:68696676 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002937719] |
Chr11:68929282 [GRCh38]
Chr11:68696750 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.913-19C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002600393] |
Chr11:68917717 [GRCh38]
Chr11:68685185 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.257-10G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002988570] |
Chr11:68908135 [GRCh38]
Chr11:68675603 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2840A>G (p.Glu947Gly) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002578521] |
Chr11:68939589 [GRCh38]
Chr11:68707057 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1418+4_1418+5del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002898718] |
Chr11:68933484..68933485 [GRCh38]
Chr11:68700952..68700953 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2132G>C (p.Ser711Thr) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002922753] |
Chr11:68936612 [GRCh38]
Chr11:68704080 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2407G>A (p.Ala803Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002675220] |
Chr11:68936887 [GRCh38]
Chr11:68704355 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.257-11T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002922194] |
Chr11:68908134 [GRCh38]
Chr11:68675602 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.926A>T (p.Lys309Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002963324] |
Chr11:68917749 [GRCh38]
Chr11:68685217 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.547+15G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002631354] |
Chr11:68908646 [GRCh38]
Chr11:68676114 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+13T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003064170] |
Chr11:68929370 [GRCh38]
Chr11:68696838 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1503G>T (p.Leu501=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003086334] |
Chr11:68933879 [GRCh38]
Chr11:68701347 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1638C>T (p.Asp546=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002651274] |
Chr11:68935304 [GRCh38]
Chr11:68702772 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1771C>T (p.Leu591Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002959583] |
Chr11:68936251 [GRCh38]
Chr11:68703719 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2946C>T (p.Asn982=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003064041] |
Chr11:68939695 [GRCh38]
Chr11:68707163 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003028059] |
Chr11:68908605 [GRCh38]
Chr11:68676073 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2392G>A (p.Gly798Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003087920] |
Chr11:68936872 [GRCh38]
Chr11:68704340 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.849T>C (p.Val283=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002934006] |
Chr11:68914960 [GRCh38]
Chr11:68682428 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2785-13G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002599182] |
Chr11:68939521 [GRCh38]
Chr11:68706989 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.631A>G (p.Ile211Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002808851] |
Chr11:68911523 [GRCh38]
Chr11:68678991 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1632+15T>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002634013] |
Chr11:68934573 [GRCh38]
Chr11:68702041 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003050137] |
Chr11:68933307 [GRCh38]
Chr11:68700775 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1419-10T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002944094] |
Chr11:68933785 [GRCh38]
Chr11:68701253 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003066205] |
Chr11:68911509 [GRCh38]
Chr11:68678977 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2265G>T (p.Arg755Ser) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002608546] |
Chr11:68936745 [GRCh38]
Chr11:68704213 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs) |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003052120] |
Chr11:68936397..68936398 [GRCh38]
Chr11:68703865..68703866 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1011T>G (p.Ala337=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003071177] |
Chr11:68917834 [GRCh38]
Chr11:68685302 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.87-11G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002609243] |
Chr11:68906058 [GRCh38]
Chr11:68673526 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1095C>T (p.Pro365=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002611044] |
Chr11:68929217 [GRCh38]
Chr11:68696685 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2781C>T (p.Pro927=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003066531] |
Chr11:68938351 [GRCh38]
Chr11:68705819 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.891del (p.Lys298fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002680749] |
Chr11:68915001 [GRCh38]
Chr11:68682469 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2183A>G (p.His728Arg) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002612129] |
Chr11:68936663 [GRCh38]
Chr11:68704131 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1617G>A (p.Ser539=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002612291] |
Chr11:68934543 [GRCh38]
Chr11:68702011 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2785-8C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV002612550] |
Chr11:68939526 [GRCh38]
Chr11:68706994 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.838C>G (p.Leu280Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003194228] |
Chr11:68914949 [GRCh38]
Chr11:68682417 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.549C>A (p.His183Gln) |
single nucleotide variant |
not provided [RCV003133685] |
Chr11:68911441 [GRCh38]
Chr11:68678909 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2719A>T (p.Thr907Ser) |
single nucleotide variant |
not provided [RCV003133689] |
Chr11:68938289 [GRCh38]
Chr11:68705757 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.136T>G (p.Cys46Gly) |
single nucleotide variant |
not provided [RCV003133692] |
Chr11:68906118 [GRCh38]
Chr11:68673586 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG |
insertion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003226114] |
Chr11:68929957..68929958 [GRCh38]
Chr11:68697425..68697426 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1962G>A (p.Glu654=) |
single nucleotide variant |
not provided [RCV003222736] |
Chr11:68936442 [GRCh38]
Chr11:68703910 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.712-588C>T |
single nucleotide variant |
not provided [RCV003222734] |
Chr11:68914235 [GRCh38]
Chr11:68681703 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.305C>T (p.Ala102Val) |
single nucleotide variant |
not provided [RCV003133693] |
Chr11:68908193 [GRCh38]
Chr11:68675661 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.711+164C>T |
single nucleotide variant |
not provided [RCV003222733] |
Chr11:68911767 [GRCh38]
Chr11:68679235 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1917del (p.Phe640fs) |
deletion |
not provided [RCV003222735] |
Chr11:68936396 [GRCh38]
Chr11:68703864 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.256+138A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003226108] |
Chr11:68906376 [GRCh38]
Chr11:68673844 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.1841C>T (p.Ser614Phe) |
single nucleotide variant |
not provided [RCV003133686] |
Chr11:68936321 [GRCh38]
Chr11:68703789 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.2713G>C (p.Gly905Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003304898] |
Chr11:68938283 [GRCh38]
Chr11:68705751 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1281T>C (p.Ala427=) |
single nucleotide variant |
not provided [RCV003398057] |
Chr11:68933344 [GRCh38]
Chr11:68700812 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2457C>G (p.Pro819=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003778379]|not provided [RCV003398058] |
Chr11:68936937 [GRCh38]
Chr11:68704405 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2210T>C (p.Met737Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003384720] |
Chr11:68936690 [GRCh38]
Chr11:68704158 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs) |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003335903]|Autosomal recessive distal spinal muscular atrophy 1 [RCV003777431] |
Chr11:68933300..68933301 [GRCh38]
Chr11:68700768..68700769 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 |
copy number gain |
not provided [RCV003484842] |
Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2406A>G (p.Pro802=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003791317] |
Chr11:68936886 [GRCh38]
Chr11:68704354 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1511A>G (p.Glu504Gly) |
single nucleotide variant |
not provided [RCV003441607] |
Chr11:68933887 [GRCh38]
Chr11:68701355 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1122T>C (p.Ile374=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781576] |
Chr11:68929244 [GRCh38]
Chr11:68696712 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2604A>C (p.Lys868Asn) |
single nucleotide variant |
not provided [RCV003441377] |
Chr11:68937084 [GRCh38]
Chr11:68704552 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1064C>A (p.Ala355Glu) |
single nucleotide variant |
IGHMBP2-related condition [RCV003418930] |
Chr11:68929186 [GRCh38]
Chr11:68696654 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003778310]|IGHMBP2-related condition [RCV003410545] |
Chr11:68908295..68908296 [GRCh38]
Chr11:68675763..68675764 [GRCh37]
Chr11:11q13.3 |
pathogenic|likely pathogenic |
| NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793687] |
Chr11:68936283 [GRCh38]
Chr11:68703751 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2409C>T (p.Ala803=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785992] |
Chr11:68936889 [GRCh38]
Chr11:68704357 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.87-14C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781940] |
Chr11:68906055 [GRCh38]
Chr11:68673523 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.582C>A (p.Thr194=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793582] |
Chr11:68911474 [GRCh38]
Chr11:68678942 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003797023] |
Chr11:68917769..68917770 [GRCh38]
Chr11:68685237..68685238 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1017C>G (p.Leu339=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784780] |
Chr11:68917840 [GRCh38]
Chr11:68685308 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.195C>T (p.Val65=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003807833] |
Chr11:68906177 [GRCh38]
Chr11:68673645 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1383C>T (p.Leu461=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003786956] |
Chr11:68933446 [GRCh38]
Chr11:68700914 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2937G>A (p.Glu979=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003788516] |
Chr11:68939686 [GRCh38]
Chr11:68707154 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2373A>T (p.Ala791=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003783547] |
Chr11:68936853 [GRCh38]
Chr11:68704321 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1239T>C (p.Ala413=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003796225] |
Chr11:68933302 [GRCh38]
Chr11:68700770 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer) |
microsatellite |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003807259] |
Chr11:68908576..68908579 [GRCh38]
Chr11:68676044..68676047 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.87-11G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003780548] |
Chr11:68906058 [GRCh38]
Chr11:68673526 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.449+2T>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003790012] |
Chr11:68908339 [GRCh38]
Chr11:68675807 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003787207] |
Chr11:68908296 [GRCh38]
Chr11:68675764 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1418+13G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784896] |
Chr11:68933494 [GRCh38]
Chr11:68700962 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1362C>T (p.Asp454=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003792744] |
Chr11:68933425 [GRCh38]
Chr11:68700893 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.574C>T (p.Leu192=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003796511] |
Chr11:68911466 [GRCh38]
Chr11:68678934 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.813C>G (p.Leu271=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003782582] |
Chr11:68914924 [GRCh38]
Chr11:68682392 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1578G>A (p.Val526=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003805824] |
Chr11:68934504 [GRCh38]
Chr11:68701972 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1632+16T>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003807717] |
Chr11:68934574 [GRCh38]
Chr11:68702042 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.171T>C (p.Thr57=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003804357] |
Chr11:68906153 [GRCh38]
Chr11:68673621 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2760C>T (p.Tyr920=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795342] |
Chr11:68938330 [GRCh38]
Chr11:68705798 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2238T>C (p.Phe746=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003807059] |
Chr11:68936718 [GRCh38]
Chr11:68704186 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.450-17G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793054] |
Chr11:68908517 [GRCh38]
Chr11:68675985 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2817T>C (p.His939=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003797532] |
Chr11:68939566 [GRCh38]
Chr11:68707034 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.449+17G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003807982] |
Chr11:68908354 [GRCh38]
Chr11:68675822 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.792C>G (p.Arg264=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003782853] |
Chr11:68914903 [GRCh38]
Chr11:68682371 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+17_1235+25del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003804719] |
Chr11:68929370..68929378 [GRCh38]
Chr11:68696838..68696846 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1537+13G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003807739] |
Chr11:68933926 [GRCh38]
Chr11:68701394 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1377G>C (p.Gly459=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003807743] |
Chr11:68933440 [GRCh38]
Chr11:68700908 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2787C>T (p.Ile929=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003797541] |
Chr11:68939536 [GRCh38]
Chr11:68707004 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2785-13G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789160] |
Chr11:68939521 [GRCh38]
Chr11:68706989 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.912+13G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003804573] |
Chr11:68915036 [GRCh38]
Chr11:68682504 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.46C>T (p.Leu16=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003794319] |
Chr11:68903998 [GRCh38]
Chr11:68671466 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.87-12G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003787746] |
Chr11:68906057 [GRCh38]
Chr11:68673525 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2418G>A (p.Gln806=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003787749] |
Chr11:68936898 [GRCh38]
Chr11:68704366 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.257-17A>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785436] |
Chr11:68908128 [GRCh38]
Chr11:68675596 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2118T>C (p.Ala706=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003780018] |
Chr11:68936598 [GRCh38]
Chr11:68704066 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.86+9G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003780033] |
Chr11:68904047 [GRCh38]
Chr11:68671515 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+20_1235+21del |
microsatellite |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793376] |
Chr11:68929375..68929376 [GRCh38]
Chr11:68696843..68696844 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2785-19A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003787952] |
Chr11:68939515 [GRCh38]
Chr11:68706983 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.447A>G (p.Lys149=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003787974] |
Chr11:68908335 [GRCh38]
Chr11:68675803 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2529C>T (p.Ser843=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789486] |
Chr11:68937009 [GRCh38]
Chr11:68704477 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+894C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785617] |
Chr11:68930251 [GRCh38]
Chr11:68697719 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.516C>A (p.Gly172=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781429] |
Chr11:68908600 [GRCh38]
Chr11:68676068 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1806C>T (p.Thr602=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003797371] |
Chr11:68936286 [GRCh38]
Chr11:68703754 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789669] |
Chr11:68903998 [GRCh38]
Chr11:68671466 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1419-8T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003794217] |
Chr11:68933787 [GRCh38]
Chr11:68701255 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1692C>T (p.Val564=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784589] |
Chr11:68935358 [GRCh38]
Chr11:68702826 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.261T>C (p.Asp87=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784592] |
Chr11:68908149 [GRCh38]
Chr11:68675617 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1065G>T (p.Ala355=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003792084] |
Chr11:68929187 [GRCh38]
Chr11:68696655 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.234T>C (p.Leu78=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003794249] |
Chr11:68906216 [GRCh38]
Chr11:68673684 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2611+17_2611+19del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784641] |
Chr11:68937106..68937108 [GRCh38]
Chr11:68704574..68704576 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1212G>T (p.Leu404=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785752] |
Chr11:68929334 [GRCh38]
Chr11:68696802 [GRCh37]
Chr11:11q13.3 |
benign |
| NM_002180.3(IGHMBP2):c.738C>T (p.Ile246=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785894] |
Chr11:68914849 [GRCh38]
Chr11:68682317 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1632+19G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003790798] |
Chr11:68934577 [GRCh38]
Chr11:68702045 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2919G>A (p.Leu973=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781860] |
Chr11:68939668 [GRCh38]
Chr11:68707136 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2193C>T (p.Ala731=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785375] |
Chr11:68936673 [GRCh38]
Chr11:68704141 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1632+7G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793737] |
Chr11:68934565 [GRCh38]
Chr11:68702033 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.453C>A (p.Ala151=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003794995] |
Chr11:68908537 [GRCh38]
Chr11:68676005 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2262C>T (p.Asp754=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795007] |
Chr11:68936742 [GRCh38]
Chr11:68704210 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.257-11T>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003790287] |
Chr11:68908134 [GRCh38]
Chr11:68675602 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1242G>A (p.Ala414=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784143] |
Chr11:68933305 [GRCh38]
Chr11:68700773 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2601A>G (p.Lys867=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003804852] |
Chr11:68937081 [GRCh38]
Chr11:68704549 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1398del (p.Val467fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003791302] |
Chr11:68933460 [GRCh38]
Chr11:68700928 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs) |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003804102] |
Chr11:68939630..68939631 [GRCh38]
Chr11:68707098..68707099 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2766C>G (p.Leu922=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784164] |
Chr11:68938336 [GRCh38]
Chr11:68705804 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2785-4C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785029] |
Chr11:68939530 [GRCh38]
Chr11:68706998 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1461C>T (p.Pro487=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795815] |
Chr11:68933837 [GRCh38]
Chr11:68701305 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.636C>A (p.Ile212=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003806696] |
Chr11:68911528 [GRCh38]
Chr11:68678996 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1060+9G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003790433] |
Chr11:68917892 [GRCh38]
Chr11:68685360 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.987A>G (p.Glu329=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784253] |
Chr11:68917810 [GRCh38]
Chr11:68685278 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784265] |
Chr11:68933415 [GRCh38]
Chr11:68700883 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs) |
microsatellite |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003806056] |
Chr11:68929348..68929349 [GRCh38]
Chr11:68696816..68696817 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.285T>C (p.Ala95=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003796084] |
Chr11:68908173 [GRCh38]
Chr11:68675641 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1757-13T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795530] |
Chr11:68936224 [GRCh38]
Chr11:68703692 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2601_2604del (p.Lys868fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003783580] |
Chr11:68937079..68937082 [GRCh38]
Chr11:68704547..68704550 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.870C>G (p.Ala290=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784225] |
Chr11:68914981 [GRCh38]
Chr11:68682449 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.480T>C (p.Ser160=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003787052] |
Chr11:68908564 [GRCh38]
Chr11:68676032 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.867T>C (p.Ser289=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003806375] |
Chr11:68914978 [GRCh38]
Chr11:68682446 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.86+7G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003790545] |
Chr11:68904045 [GRCh38]
Chr11:68671513 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1307G>A (p.Arg436Gln) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781208] |
Chr11:68933370 [GRCh38]
Chr11:68700838 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2274C>G (p.Val758=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003796147] |
Chr11:68936754 [GRCh38]
Chr11:68704222 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003806758] |
Chr11:68939576 [GRCh38]
Chr11:68707044 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.712-18C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003796564] |
Chr11:68914805 [GRCh38]
Chr11:68682273 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1074T>C (p.Asp358=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003787121] |
Chr11:68929196 [GRCh38]
Chr11:68696664 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.653del (p.Thr218fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795413] |
Chr11:68911545 [GRCh38]
Chr11:68679013 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2880C>G (p.Ser960=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003796579] |
Chr11:68939629 [GRCh38]
Chr11:68707097 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1443A>G (p.Thr481=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003806794] |
Chr11:68933819 [GRCh38]
Chr11:68701287 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1392C>T (p.His464=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795456] |
Chr11:68933455 [GRCh38]
Chr11:68700923 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.547+11C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003788630] |
Chr11:68908642 [GRCh38]
Chr11:68676110 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2316C>G (p.Ser772=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003790095] |
Chr11:68936796 [GRCh38]
Chr11:68704264 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1857C>T (p.Asn619=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003790670] |
Chr11:68936337 [GRCh38]
Chr11:68703805 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.86+1G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785161] |
Chr11:68904039 [GRCh38]
Chr11:68671507 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1757-19C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789515] |
Chr11:68936218 [GRCh38]
Chr11:68703686 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.759G>A (p.Glu253=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003780769] |
Chr11:68914870 [GRCh38]
Chr11:68682338 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1538-20C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003790133] |
Chr11:68934444 [GRCh38]
Chr11:68701912 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1418+5G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781384] |
Chr11:68933486 [GRCh38]
Chr11:68700954 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.1080C>G (p.Pro360=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003783164] |
Chr11:68929202 [GRCh38]
Chr11:68696670 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1428A>G (p.Pro476=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793540] |
Chr11:68933804 [GRCh38]
Chr11:68701272 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.117G>A (p.Glu39=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003796237] |
Chr11:68906099 [GRCh38]
Chr11:68673567 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1537+10C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789581] |
Chr11:68933923 [GRCh38]
Chr11:68701391 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2607C>A (p.Ala869=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781695] |
Chr11:68937087 [GRCh38]
Chr11:68704555 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793983] |
Chr11:68906164 [GRCh38]
Chr11:68673632 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.256+7del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003805275] |
Chr11:68906245 [GRCh38]
Chr11:68673713 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.547+19T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784718] |
Chr11:68908650 [GRCh38]
Chr11:68676118 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.912+18T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003796319] |
Chr11:68915041 [GRCh38]
Chr11:68682509 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2712C>T (p.Ala904=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003783812] |
Chr11:68938282 [GRCh38]
Chr11:68705750 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1218C>A (p.Pro406=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003786863] |
Chr11:68929340 [GRCh38]
Chr11:68696808 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2013G>A (p.Thr671=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003788581] |
Chr11:68936493 [GRCh38]
Chr11:68703961 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.913-10T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784743] |
Chr11:68917726 [GRCh38]
Chr11:68685194 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1464G>C (p.Leu488=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795556] |
Chr11:68933840 [GRCh38]
Chr11:68701308 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.270C>T (p.Gly90=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003806188] |
Chr11:68908158 [GRCh38]
Chr11:68675626 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2325G>C (p.Gly775=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003786436] |
Chr11:68936805 [GRCh38]
Chr11:68704273 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1734C>T (p.Ser578=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003807480] |
Chr11:68935400 [GRCh38]
Chr11:68702868 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2892C>G (p.Ala964=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003805221] |
Chr11:68939641 [GRCh38]
Chr11:68707109 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2466G>A (p.Gln822=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003782618] |
Chr11:68936946 [GRCh38]
Chr11:68704414 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1419-17C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789481] |
Chr11:68933778 [GRCh38]
Chr11:68701246 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1165C>T (p.Leu389=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003806236] |
Chr11:68929287 [GRCh38]
Chr11:68696755 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.633C>T (p.Ile211=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003796778] |
Chr11:68911525 [GRCh38]
Chr11:68678993 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.912+11T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003796794] |
Chr11:68915034 [GRCh38]
Chr11:68682502 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1719G>A (p.Glu573=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793028] |
Chr11:68935385 [GRCh38]
Chr11:68702853 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs) |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003805877] |
Chr11:68936343..68936344 [GRCh38]
Chr11:68703811..68703812 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1026C>T (p.Leu342=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003791415] |
Chr11:68917849 [GRCh38]
Chr11:68685317 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1254G>A (p.Leu418=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785379] |
Chr11:68933317 [GRCh38]
Chr11:68700785 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2230T>C (p.Leu744=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003794790] |
Chr11:68936710 [GRCh38]
Chr11:68704178 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2094T>C (p.Ala698=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795729] |
Chr11:68936574 [GRCh38]
Chr11:68704042 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+18_1235+27del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003806980] |
Chr11:68929372..68929381 [GRCh38]
Chr11:68696840..68696849 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1756+7A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003797128] |
Chr11:68935429 [GRCh38]
Chr11:68702897 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.756G>A (p.Val252=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003787290] |
Chr11:68914867 [GRCh38]
Chr11:68682335 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2043G>A (p.Glu681=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003780362] |
Chr11:68936523 [GRCh38]
Chr11:68703991 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.900C>T (p.Ile300=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003783181] |
Chr11:68915011 [GRCh38]
Chr11:68682479 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2478C>T (p.Asp826=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793490] |
Chr11:68936958 [GRCh38]
Chr11:68704426 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.72G>A (p.Glu24=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003805066] |
Chr11:68904024 [GRCh38]
Chr11:68671492 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2784+7C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003792078] |
Chr11:68938361 [GRCh38]
Chr11:68705829 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2784+8G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781807] |
Chr11:68938362 [GRCh38]
Chr11:68705830 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1731G>C (p.Leu577=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795353] |
Chr11:68935397 [GRCh38]
Chr11:68702865 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1017C>T (p.Leu339=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785937] |
Chr11:68917840 [GRCh38]
Chr11:68685308 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1416G>A (p.Leu472=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003807401] |
Chr11:68933479 [GRCh38]
Chr11:68700947 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.81G>A (p.Glu27=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795375] |
Chr11:68904033 [GRCh38]
Chr11:68671501 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1061-16T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003805633] |
Chr11:68929167 [GRCh38]
Chr11:68696635 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.797del (p.Gly266fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003807426] |
Chr11:68914906 [GRCh38]
Chr11:68682374 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.712-9G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003782033] |
Chr11:68914814 [GRCh38]
Chr11:68682282 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.717G>A (p.Leu239=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003783440] |
Chr11:68914828 [GRCh38]
Chr11:68682296 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2785-6C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003785567] |
Chr11:68939528 [GRCh38]
Chr11:68706996 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1464G>A (p.Leu488=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793814] |
Chr11:68933840 [GRCh38]
Chr11:68701308 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1773T>G (p.Leu591=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789890] |
Chr11:68936253 [GRCh38]
Chr11:68703721 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2612-15dup |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003804727] |
Chr11:68938166..68938167 [GRCh38]
Chr11:68705634..68705635 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1518A>G (p.Glu506=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003780619] |
Chr11:68933894 [GRCh38]
Chr11:68701362 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.912+10A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003784249] |
Chr11:68915033 [GRCh38]
Chr11:68682501 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2785-14T>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003795461] |
Chr11:68939520 [GRCh38]
Chr11:68706988 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1854C>T (p.Asn618=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793562] |
Chr11:68936334 [GRCh38]
Chr11:68703802 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1986T>C (p.Ala662=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003783269]|IGHMBP2-related condition [RCV003949015] |
Chr11:68936466 [GRCh38]
Chr11:68703934 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1053A>C (p.Thr351=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003792024] |
Chr11:68917876 [GRCh38]
Chr11:68685344 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2868C>G (p.Thr956=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003786989] |
Chr11:68939617 [GRCh38]
Chr11:68707085 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2534del (p.Gln845fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003791071] |
Chr11:68937014 [GRCh38]
Chr11:68704482 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1236-19T>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789062] |
Chr11:68933280 [GRCh38]
Chr11:68700748 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2538G>A (p.Gly846=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003788577] |
Chr11:68937018 [GRCh38]
Chr11:68704486 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.498C>G (p.Leu166=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781125] |
Chr11:68908582 [GRCh38]
Chr11:68676050 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1061-20C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003780759] |
Chr11:68929163 [GRCh38]
Chr11:68696631 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1632+1G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781884] |
Chr11:68934559 [GRCh38]
Chr11:68702027 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1538-7C>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003792182] |
Chr11:68934457 [GRCh38]
Chr11:68701925 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2790T>C (p.His930=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789896] |
Chr11:68939539 [GRCh38]
Chr11:68707007 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.36G>A (p.Lys12=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003787351] |
Chr11:68903988 [GRCh38]
Chr11:68671456 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.15T>A (p.Ala5=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793769] |
Chr11:68903967 [GRCh38]
Chr11:68671435 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.723C>T (p.Cys241=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789966] |
Chr11:68914834 [GRCh38]
Chr11:68682302 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.711+1G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003782585] |
Chr11:68911604 [GRCh38]
Chr11:68679072 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.548-13G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003783814] |
Chr11:68911427 [GRCh38]
Chr11:68678895 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2637G>A (p.Thr879=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003792883] |
Chr11:68938207 [GRCh38]
Chr11:68705675 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1632+12T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003790049] |
Chr11:68934570 [GRCh38]
Chr11:68702038 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2736C>T (p.Phe912=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003792468] |
Chr11:68938306 [GRCh38]
Chr11:68705774 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.264C>A (p.Ile88=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003782066] |
Chr11:68908152 [GRCh38]
Chr11:68675620 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1471G>A (p.Val491Met) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003781431] |
Chr11:68933847 [GRCh38]
Chr11:68701315 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
| NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789520] |
Chr11:68911478 [GRCh38]
Chr11:68678946 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1538-5T>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003782272] |
Chr11:68934459 [GRCh38]
Chr11:68701927 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1398C>G (p.Ser466=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003792582] |
Chr11:68933461 [GRCh38]
Chr11:68700929 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.547+20C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003793439] |
Chr11:68908651 [GRCh38]
Chr11:68676119 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.612G>A (p.Leu204=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003782326] |
Chr11:68911504 [GRCh38]
Chr11:68678972 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1287G>A (p.Glu429=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003804246] |
Chr11:68933350 [GRCh38]
Chr11:68700818 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.498C>T (p.Leu166=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003788169] |
Chr11:68908582 [GRCh38]
Chr11:68676050 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1107C>T (p.Phe369=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003789684] |
Chr11:68929229 [GRCh38]
Chr11:68696697 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2859C>T (p.Gly953=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003790715] |
Chr11:68939608 [GRCh38]
Chr11:68707076 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.86+19G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003788077] |
Chr11:68904057 [GRCh38]
Chr11:68671525 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1977C>T (p.Ser659=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003779396] |
Chr11:68936457 [GRCh38]
Chr11:68703925 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1060+7G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003786776] |
Chr11:68917890 [GRCh38]
Chr11:68685358 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1783C>A (p.Arg595=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003786866] |
Chr11:68936263 [GRCh38]
Chr11:68703731 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1632+8G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003799821] |
Chr11:68934566 [GRCh38]
Chr11:68702034 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2785-4C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003810170] |
Chr11:68939530 [GRCh38]
Chr11:68706998 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.441A>T (p.Arg147=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003801094] |
Chr11:68908329 [GRCh38]
Chr11:68675797 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2850C>T (p.Leu950=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003800129] |
Chr11:68939599 [GRCh38]
Chr11:68707067 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.996G>A (p.Glu332=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003798066] |
Chr11:68917819 [GRCh38]
Chr11:68685287 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2612-11G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003799157] |
Chr11:68938171 [GRCh38]
Chr11:68705639 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.87-13G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003809410] |
Chr11:68906056 [GRCh38]
Chr11:68673524 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003810502] |
Chr11:68929204 [GRCh38]
Chr11:68696672 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003808457] |
Chr11:68939596 [GRCh38]
Chr11:68707064 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1236-6G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003799396] |
Chr11:68933293 [GRCh38]
Chr11:68700761 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2172T>C (p.Asp724=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003798382] |
Chr11:68936652 [GRCh38]
Chr11:68704120 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2556G>A (p.Glu852=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003799543] |
Chr11:68937036 [GRCh38]
Chr11:68704504 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2532G>C (p.Ala844=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003808710] |
Chr11:68937012 [GRCh38]
Chr11:68704480 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.846G>A (p.Ala282=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003800655] |
Chr11:68914957 [GRCh38]
Chr11:68682425 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.915G>C (p.Val305=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003812258] |
Chr11:68917738 [GRCh38]
Chr11:68685206 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.720C>T (p.Cys240=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003798593] |
Chr11:68914831 [GRCh38]
Chr11:68682299 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1608T>A (p.Ala536=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003800771] |
Chr11:68934534 [GRCh38]
Chr11:68702002 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.913-8C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003813096] |
Chr11:68917728 [GRCh38]
Chr11:68685196 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.449+2del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003808913] |
Chr11:68908339 [GRCh38]
Chr11:68675807 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.87-20C>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003808615] |
Chr11:68906049 [GRCh38]
Chr11:68673517 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.256+17C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003808617] |
Chr11:68906255 [GRCh38]
Chr11:68673723 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.463C>T (p.Leu155=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003800568] |
Chr11:68908547 [GRCh38]
Chr11:68676015 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1538-9T>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003818000] |
Chr11:68934455 [GRCh38]
Chr11:68701923 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.588G>A (p.Gln196=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003818129] |
Chr11:68911480 [GRCh38]
Chr11:68678948 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2611+20C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003801698] |
Chr11:68937111 [GRCh38]
Chr11:68704579 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs) |
duplication |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003817864] |
Chr11:68929334..68929335 [GRCh38]
Chr11:68696802..68696803 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.2445A>G (p.Thr815=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003801734] |
Chr11:68936925 [GRCh38]
Chr11:68704393 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.712-5C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003809887] |
Chr11:68914818 [GRCh38]
Chr11:68682286 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2811C>T (p.Arg937=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003810385] |
Chr11:68939560 [GRCh38]
Chr11:68707028 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.547+20C>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003801345] |
Chr11:68908651 [GRCh38]
Chr11:68676119 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1494G>A (p.Leu498=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003810398] |
Chr11:68933870 [GRCh38]
Chr11:68701338 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1468T>C (p.Leu490=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003808899] |
Chr11:68933844 [GRCh38]
Chr11:68701312 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1101C>T (p.Ser367=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003800946] |
Chr11:68929223 [GRCh38]
Chr11:68696691 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2964G>A (p.Arg988=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003801547] |
Chr11:68939713 [GRCh38]
Chr11:68707181 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.150G>T (p.Leu50=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003813523] |
Chr11:68906132 [GRCh38]
Chr11:68673600 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1470G>A (p.Leu490=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003818116] |
Chr11:68933846 [GRCh38]
Chr11:68701314 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1317G>A (p.Thr439=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003809092] |
Chr11:68933380 [GRCh38]
Chr11:68700848 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003810076] |
Chr11:68911530 [GRCh38]
Chr11:68678998 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.1236-4G>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003817950] |
Chr11:68933295 [GRCh38]
Chr11:68700763 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1008A>G (p.Ala336=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003801495] |
Chr11:68917831 [GRCh38]
Chr11:68685299 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1060+8G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003801504] |
Chr11:68917891 [GRCh38]
Chr11:68685359 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003801590] |
Chr11:68937047 [GRCh38]
Chr11:68704515 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003815213] |
Chr11:68935334 [GRCh38]
Chr11:68702802 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1757-4G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003808895] |
Chr11:68936233 [GRCh38]
Chr11:68703701 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2299C>T (p.Leu767=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003808905] |
Chr11:68936779 [GRCh38]
Chr11:68704247 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2611+17G>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003810175] |
Chr11:68937108 [GRCh38]
Chr11:68704576 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1741A>C (p.Arg581=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003808513] |
Chr11:68935407 [GRCh38]
Chr11:68702875 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1263C>T (p.Ser421=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003799442] |
Chr11:68933326 [GRCh38]
Chr11:68700794 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1824G>C (p.Val608=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003809804] |
Chr11:68936304 [GRCh38]
Chr11:68703772 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.879T>C (p.Val293=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003798159] |
Chr11:68914990 [GRCh38]
Chr11:68682458 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003800684] |
Chr11:68911580 [GRCh38]
Chr11:68679048 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.256+20G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003799350] |
Chr11:68906258 [GRCh38]
Chr11:68673726 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+894C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003802816] |
Chr11:68930251 [GRCh38]
Chr11:68697719 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1989C>T (p.Ala663=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803138] |
Chr11:68936469 [GRCh38]
Chr11:68703937 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.39A>G (p.Gln13=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803219] |
Chr11:68903991 [GRCh38]
Chr11:68671459 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.256+14G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803853] |
Chr11:68906252 [GRCh38]
Chr11:68673720 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803316] |
Chr11:68908168..68908174 [GRCh38]
Chr11:68675636..68675642 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.1161C>T (p.Ile387=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003802246] |
Chr11:68929283 [GRCh38]
Chr11:68696751 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803517] |
Chr11:68914966 [GRCh38]
Chr11:68682434 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1537+18T>C |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803190] |
Chr11:68933931 [GRCh38]
Chr11:68701399 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2612-20G>A |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003802367] |
Chr11:68938162 [GRCh38]
Chr11:68705630 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2202G>C (p.Val734=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803237] |
Chr11:68936682 [GRCh38]
Chr11:68704150 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1164C>G (p.Pro388=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803168] |
Chr11:68929286 [GRCh38]
Chr11:68696754 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.318G>A (p.Leu106=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003802268] |
Chr11:68908206 [GRCh38]
Chr11:68675674 [GRCh37]
Chr11:11q13.3 |
likely benign |
| GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 |
copy number gain |
not specified [RCV003986944] |
Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.905_912+85del |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803118] |
Chr11:68915014..68915106 [GRCh38]
Chr11:68682482..68682574 [GRCh37]
Chr11:11q13.3 |
likely pathogenic |
| NM_002180.3(IGHMBP2):c.2785-9C>T |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803670] |
Chr11:68939525 [GRCh38]
Chr11:68706993 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs) |
deletion |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003803758] |
Chr11:68936354 [GRCh38]
Chr11:68703822 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.711+17A>G |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV003802726] |
Chr11:68911620 [GRCh38]
Chr11:68679088 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1235+34C>T |
single nucleotide variant |
IGHMBP2-related condition [RCV003921953] |
Chr11:68929391 [GRCh38]
Chr11:68696859 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.2599A>T (p.Lys867Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2S [RCV003152883] |
Chr11:68937079 [GRCh38]
Chr11:68704547 [GRCh37]
Chr11:11q13.3 |
pathogenic |
| NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=) |
single nucleotide variant |
Autosomal recessive distal spinal muscular atrophy 1 [RCV000934014] |
Chr11:68906225 [GRCh38]
Chr11:68673693 [GRCh37]
Chr11:11q13.3 |
likely benign |
| NM_002180.3(IGHMBP2):c.1465C>T (p.Leu489Phe) |
single nucleotide variant |
not provided [RCV001754789] |
Chr11:68933841 [GRCh38]
Chr11:68701309 [GRCh37]
Chr11:11q13.3 |
uncertain significance |
