| NM_001122955.4(BSCL2):c.457G>A (p.Val153Ile) |
single nucleotide variant |
not provided [RCV000521639] |
Chr11:62702497 [GRCh38]
Chr11:62469969 [GRCh37]
Chr11:11q12.3 |
likely pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.631G>A (p.Val211Met) |
single nucleotide variant |
not provided [RCV004777698]|not specified [RCV000517737] |
Chr11:62692797 [GRCh38]
Chr11:62460269 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.809G>T (p.Arg270Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005056063]|Hereditary spastic paraplegia [RCV000516060] |
Chr11:62692430 [GRCh38]
Chr11:62459902 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000526218]|Hereditary spastic paraplegia [RCV000515840] |
Chr11:62691390 [GRCh38]
Chr11:62458862 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.885G>A (p.Pro295=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001407254]|not provided [RCV000516898] |
Chr11:62691400 [GRCh38]
Chr11:62458872 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.384_385delinsGGA (p.Ser128fs) |
indel |
Berardinelli-Seip congenital lipodystrophy [RCV003311635]|Congenital generalized lipodystrophy type 2 [RCV000004789] |
Chr11:62705320..62705321 [GRCh38]
Chr11:62472792..62472793 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs) |
insertion |
Berardinelli-Seip congenital lipodystrophy [RCV003311636]|Congenital generalized lipodystrophy type 2 [RCV000004790] |
Chr11:62694704..62694705 [GRCh38]
Chr11:62462176..62462177 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.507_508del (p.Tyr170fs) |
deletion |
Berardinelli-Seip congenital lipodystrophy [RCV003311637]|Congenital generalized lipodystrophy type 2 [RCV000004791] |
Chr11:62694690..62694691 [GRCh38]
Chr11:62462162..62462163 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| BSCL2, 258-BP DEL/12-BP INS |
indel |
Congenital generalized lipodystrophy type 2 [RCV000004792] |
Chr11:11q13 |
pathogenic |
| NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) |
deletion |
Berardinelli-Seip congenital lipodystrophy [RCV003311638]|Charcot-Marie-Tooth disease type 2 [RCV005089168]|Congenital generalized lipodystrophy type 2 [RCV000004793]|Severe neurodegenerative syndrome with lipodystrophy [RCV000133399]|not provided [RCV001091624] |
Chr11:62694685..62694689 [GRCh38]
Chr11:62462157..62462161 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) |
duplication |
Berardinelli-Seip congenital lipodystrophy [RCV003311639]|Charcot-Marie-Tooth disease type 2 [RCV002512772]|Congenital generalized lipodystrophy type 2 [RCV000004794]|Congenital generalized lipodystrophy type 2 [RCV002496260] |
Chr11:62694680..62694681 [GRCh38]
Chr11:62462152..62462153 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.630+1G>A |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311641]|Congenital generalized lipodystrophy type 2 [RCV000004796] |
Chr11:62694567 [GRCh38]
Chr11:62462039 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.828del (p.Tyr277fs) |
deletion |
Berardinelli-Seip congenital lipodystrophy [RCV003311643]|Charcot-Marie-Tooth disease type 2 [RCV001851654]|Congenital generalized lipodystrophy type 2 [RCV000004798] |
Chr11:62692411 [GRCh38]
Chr11:62459883 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.863+5G>A |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311644]|Congenital generalized lipodystrophy type 2 [RCV000004799]|Congenital generalized lipodystrophy type 2 [RCV005049317]|Hereditary spastic paraplegia [RCV001847581] |
Chr11:62692371 [GRCh38]
Chr11:62459843 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.864-3C>G |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311645]|Congenital generalized lipodystrophy type 2 [RCV000004800] |
Chr11:62691424 [GRCh38]
Chr11:62458896 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311885]|Congenital generalized lipodystrophy type 2 [RCV000778331]|Neuronopathy, distal hereditary motor, type 5A [RCV001107687] |
Chr11:62702530 [GRCh38]
Chr11:62470002 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.884C>T (p.Pro295Leu) |
single nucleotide variant |
not provided [RCV000722475] |
Chr11:62691401 [GRCh38]
Chr11:62458873 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.445C>G (p.Pro149Ala) |
single nucleotide variant |
not provided [RCV000520209] |
Chr11:62702509 [GRCh38]
Chr11:62469981 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1193C>G (p.Pro398Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001235356]|Inborn genetic diseases [RCV002384011]|not provided [RCV000519487] |
Chr11:62690653 [GRCh38]
Chr11:62458125 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311640]|Congenital generalized lipodystrophy type 2 [RCV000004795]|Inborn genetic diseases [RCV002326662]|Neuronopathy, distal hereditary motor, type 5C [RCV002298433] |
Chr11:62694594 [GRCh38]
Chr11:62462066 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311642]|Charcot-Marie-Tooth disease type 2 [RCV003581554]|Congenital generalized lipodystrophy type 2 [RCV000004797]|Congenital generalized lipodystrophy type 2 [RCV005049316] |
Chr11:62692413 [GRCh38]
Chr11:62459885 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311646]|Charcot-Marie-Tooth disease type 2 [RCV000168078]|Hereditary spastic paraplegia 17 [RCV000004801]|Hereditary spastic paraplegia 17 [RCV004795375]|Hereditary spastic paraplegia [RCV001847582]|Inborn genetic diseases [RCV002426488]|Neuronopathy, distal hereditary motor, type 5A [RCV000004802]|Neuronopathy, distal hereditary motor, type 5C [RCV001270680]|Peripheral neuropathy [RCV001813949]|not provided [RCV000340485]|not specified [RCV000507071] |
Chr11:62702499 [GRCh38]
Chr11:62469971 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) |
single nucleotide variant |
Abnormal central motor function [RCV001813950]|BSCL2-related disorder [RCV004766979]|Berardinelli-Seip congenital lipodystrophy [RCV003311647]|Charcot-Marie-Tooth disease type 2 [RCV000547334]|Hereditary spastic paraplegia 17 [RCV000004803]|Neuronopathy, distal hereditary motor, type 5A [RCV000755016]|Neuronopathy, distal hereditary motor, type 5C [RCV001270681]|not provided [RCV000235980] |
Chr11:62702493 [GRCh38]
Chr11:62469965 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311648]|Congenital generalized lipodystrophy type 2 [RCV000004804] |
Chr11:62691132 [GRCh38]
Chr11:62458604 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311649]|Charcot-Marie-Tooth disease type 2 [RCV000196081]|Congenital generalized lipodystrophy type 2 [RCV000004805] |
Chr11:62692671 [GRCh38]
Chr11:62460143 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3 |
copy number gain |
See cases [RCV000053620] |
Chr11:62433886..63096003 [GRCh38]
Chr11:62201358..62863475 [GRCh37]
Chr11:61957934..62620051 [NCBI36]
Chr11:11q12.3 |
pathogenic |
| GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3 |
copy number gain |
See cases [RCV000053621] |
Chr11:62452571..62862781 [GRCh38]
Chr11:62220043..62630253 [GRCh37]
Chr11:61976619..62386829 [NCBI36]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.441C>T (p.Ser147=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001425140] |
Chr11:62702513 [GRCh38]
Chr11:62469985 [GRCh37]
Chr11:62226561 [NCBI36]
Chr11:11q12.3 |
likely benign|not provided |
| NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001082147]|Congenital generalized lipodystrophy type 2 [RCV000300263]|Congenital generalized lipodystrophy type 2 [RCV002498501]|Hereditary spastic paraplegia [RCV001847675]|Inborn genetic diseases [RCV002426660]|Monogenic diabetes [RCV000664139]|Neuronopathy, distal hereditary motor, type 5A [RCV000357438]|not provided [RCV000116504]|not specified [RCV000174173] |
Chr11:62690476 [GRCh38]
Chr11:62457948 [GRCh37]
Chr11:11q12.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000860294]|Congenital generalized lipodystrophy type 2 [RCV000377345]|Hereditary spastic paraplegia 17 [RCV001553922]|Hereditary spastic paraplegia [RCV001847676]|Neuronopathy, distal hereditary motor, type 5A [RCV000320427]|Neuronopathy, distal hereditary motor, type 5C [RCV001553921]|Severe neurodegenerative syndrome with lipodystrophy [RCV001553920]|Triangular shaped proximal phalanx of the thumb [RCV002463437]|not provided [RCV001707526]|not specified [RCV000116505] |
Chr11:62690803 [GRCh38]
Chr11:62458275 [GRCh37]
Chr11:11q12.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001122955.4(BSCL2):c.538G>T (p.Glu180Ter) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311694]|Severe neurodegenerative syndrome with lipodystrophy [RCV000133398] |
Chr11:62694660 [GRCh38]
Chr11:62462132 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.822_825dup (p.Ala276fs) |
duplication |
Encephalopathy, progressive, with or without lipodystrophy [RCV001294043] |
Chr11:62692413..62692414 [GRCh38]
Chr11:62459885..62459886 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311693]|Charcot-Marie-Tooth disease type 2 [RCV000800475]|Congenital generalized lipodystrophy type 2 [RCV000412493]|Severe neurodegenerative syndrome with lipodystrophy [RCV000133397] |
Chr11:62691300 [GRCh38]
Chr11:62458772 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.3(BSCL2):c.509_513delATCGT (p.Tyr170Cysfs) |
deletion |
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY [RCV000133399]|Encephalopathy, progressive, with or without lipodystrophy [RCV000133399] |
Chr11:62694685..62694689 [GRCh38]
Chr11:62462157..62462161 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.-88C>T |
single nucleotide variant |
not provided [RCV001545591] |
Chr11:62707283 [GRCh38]
Chr11:62474755 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001078698]|Congenital generalized lipodystrophy type 2 [RCV000359811]|Inborn genetic diseases [RCV004965279]|Neuronopathy, distal hereditary motor, type 5A [RCV000267577]|not provided [RCV000143800] |
Chr11:62690679 [GRCh38]
Chr11:62458151 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001086117]|Congenital generalized lipodystrophy type 2 [RCV003884374]|Hereditary spastic paraplegia [RCV001847805]|Inborn genetic diseases [RCV002326952]|Monogenic diabetes [RCV000445495]|not provided [RCV000724332] |
Chr11:62690389 [GRCh38]
Chr11:62457861 [GRCh37]
Chr11:11q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
| GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3 |
copy number gain |
See cases [RCV000134807] |
Chr11:62562836..62840570 [GRCh38]
Chr11:62330308..62608042 [GRCh37]
Chr11:62086884..62364618 [NCBI36]
Chr11:11q12.3 |
uncertain significance |
| GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 |
copy number gain |
See cases [RCV000138411] |
Chr11:62249520..62946093 [GRCh38]
Chr11:62016992..62713565 [GRCh37]
Chr11:61773568..62470141 [NCBI36]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.882C>G (p.Phe294Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000168103] |
Chr11:62691403 [GRCh38]
Chr11:62458875 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.487-9C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002054113]|not provided [RCV000178377] |
Chr11:62694720 [GRCh38]
Chr11:62462192 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.1005+4G>T |
single nucleotide variant |
BSCL2-related disorder [RCV003967493]|Charcot-Marie-Tooth disease type 2 [RCV000538782]|Inborn genetic diseases [RCV002415821]|not provided [RCV001721248]|not specified [RCV000194188] |
Chr11:62691276 [GRCh38]
Chr11:62458748 [GRCh37]
Chr11:11q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.1005+4G>A |
single nucleotide variant |
not provided [RCV000179988] |
Chr11:62691276 [GRCh38]
Chr11:62458748 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001087807]|Congenital generalized lipodystrophy [RCV000328674]|Hereditary spastic paraplegia [RCV001847821]|Inborn genetic diseases [RCV002444724]|Neurologic Disorders/Seipinopathy [RCV000271246]|not provided [RCV000657059]|not specified [RCV001001623] |
Chr11:62690840 [GRCh38]
Chr11:62458312 [GRCh37]
Chr11:11q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001083233]|Congenital generalized lipodystrophy type 2 [RCV003884385]|Congenital generalized lipodystrophy type 2 [RCV005049470]|Inborn genetic diseases [RCV002433863]|Monogenic diabetes [RCV001174400]|Severe neurodegenerative syndrome with lipodystrophy [RCV002467651]|not provided [RCV000766869]|not specified [RCV000192598] |
Chr11:62691116 [GRCh38]
Chr11:62458588 [GRCh37]
Chr11:11q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
| NM_001122955.4(BSCL2):c.641A>G (p.His214Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000205008] |
Chr11:62692787 [GRCh38]
Chr11:62460259 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1005+8G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001413854] |
Chr11:62691272 [GRCh38]
Chr11:62458744 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001087921]|Congenital generalized lipodystrophy type 2 [RCV000329673]|Hereditary spastic paraplegia [RCV001847934]|Inborn genetic diseases [RCV002372202]|Neuronopathy, distal hereditary motor, type 5A [RCV000276983]|not provided [RCV000727441]|not specified [RCV000427504] |
Chr11:62694610 [GRCh38]
Chr11:62462082 [GRCh37]
Chr11:11q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000205813]|Hereditary spastic paraplegia 17 [RCV003448287]|Inborn genetic diseases [RCV002444827]|not provided [RCV003441784] |
Chr11:62691098 [GRCh38]
Chr11:62458570 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.247G>A (p.Val83Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000524860]|Inborn genetic diseases [RCV002350387] |
Chr11:62705458 [GRCh38]
Chr11:62472930 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs) |
microsatellite |
Congenital generalized lipodystrophy type 2 [RCV000754917] |
Chr11:62692668..62692669 [GRCh38]
Chr11:62460140..62460141 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) |
single nucleotide variant |
BSCL2-related disorder [RCV004754555]|Charcot-Marie-Tooth disease type 2 [RCV001071687]|Congenital generalized lipodystrophy type 2 [RCV002493373]|Inborn genetic diseases [RCV003166002]|not provided [RCV000755880] |
Chr11:62691351 [GRCh38]
Chr11:62458823 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1325C>T (p.Thr442Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005055772]|Congenital generalized lipodystrophy type 2 [RCV005049494]|not provided [RCV000219997] |
Chr11:62690431 [GRCh38]
Chr11:62457903 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1309G>C (p.Ala437Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002519749]|not provided [RCV000216520] |
Chr11:62690447 [GRCh38]
Chr11:62457919 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000232016]|Congenital generalized lipodystrophy type 2 [RCV002494664]|Inborn genetic diseases [RCV002444925]|not provided [RCV003319339] |
Chr11:62691113 [GRCh38]
Chr11:62458585 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.505C>T (p.Pro169Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000228112] |
Chr11:62694693 [GRCh38]
Chr11:62462165 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000234334]|Inborn genetic diseases [RCV003352809]|not provided [RCV004777639] |
Chr11:62690468 [GRCh38]
Chr11:62457940 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001055347]|Congenital generalized lipodystrophy type 2 [RCV002500833]|Inborn genetic diseases [RCV002379048]|not provided [RCV000766613]|not specified [RCV000235323] |
Chr11:62690678 [GRCh38]
Chr11:62458150 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) |
single nucleotide variant |
BSCL2-related disorder [RCV003930012]|Charcot-Marie-Tooth disease type 2 [RCV000543721]|Congenital generalized lipodystrophy type 2 [RCV002479947]|Inborn genetic diseases [RCV002418047]|not provided [RCV000235352] |
Chr11:62705406 [GRCh38]
Chr11:62472878 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.487-14G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002055013]|not provided [RCV000235758] |
Chr11:62694725 [GRCh38]
Chr11:62462197 [GRCh37]
Chr11:11q12.3 |
benign|uncertain significance |
| NM_001122955.4(BSCL2):c.420C>T (p.Ser140=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002519836]|Inborn genetic diseases [RCV002446466]|not provided [RCV000235755] |
Chr11:62702534 [GRCh38]
Chr11:62470006 [GRCh37]
Chr11:11q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001229525]|Congenital generalized lipodystrophy type 2 [RCV001106917]|Congenital generalized lipodystrophy type 2 [RCV005049502]|Inborn genetic diseases [RCV002429147]|Neuronopathy, distal hereditary motor, type 5A [RCV001106918]|not provided [RCV000236066] |
Chr11:62690645 [GRCh38]
Chr11:62458117 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.409G>A (p.Asp137Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000706077]|not provided [RCV000727086] |
Chr11:62702545 [GRCh38]
Chr11:62470017 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001080694]|Congenital generalized lipodystrophy type 2 [RCV000342082]|Inborn genetic diseases [RCV002450739]|Neuronopathy, distal hereditary motor, type 5A [RCV000280085]|not provided [RCV000236421] |
Chr11:62702506 [GRCh38]
Chr11:62469978 [GRCh37]
Chr11:11q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.272T>C (p.Leu91Pro) |
single nucleotide variant |
not provided [RCV000236351] |
Chr11:62705433 [GRCh38]
Chr11:62472905 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1006-2A>G |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000761469]|not provided [RCV000236814] |
Chr11:62691143 [GRCh38]
Chr11:62458615 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic |
| NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001086940]|Congenital generalized lipodystrophy type 2 [RCV000269156]|Inborn genetic diseases [RCV002347931]|Neuronopathy, distal hereditary motor, type 5A [RCV000366070]|not provided [RCV000236915] |
Chr11:62692683 [GRCh38]
Chr11:62460155 [GRCh37]
Chr11:11q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.486+11G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002057974]|Congenital generalized lipodystrophy type 2 [RCV000371688]|Hereditary spastic paraplegia 17 [RCV001553989]|Neuronopathy, distal hereditary motor, type 5A [RCV000338014]|Neuronopathy, distal hereditary motor, type 5C [RCV001553988]|Severe neurodegenerative syndrome with lipodystrophy [RCV001553987]|not provided [RCV001711675]|not specified [RCV000245987] |
Chr11:62702457 [GRCh38]
Chr11:62469929 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu) |
single nucleotide variant |
Monogenic diabetes [RCV000445370]|not provided [RCV001597005]|not specified [RCV000250923] |
Chr11:62707136 [GRCh38]
Chr11:62474608 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.765+15C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002057975]|Congenital generalized lipodystrophy type 2 [RCV000305595]|Neuronopathy, distal hereditary motor, type 5A [RCV000358073]|not provided [RCV001640508]|not specified [RCV000242906] |
Chr11:62692648 [GRCh38]
Chr11:62460120 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.766-49T>C |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV001553980]|Hereditary spastic paraplegia 17 [RCV001553982]|Neuronopathy, distal hereditary motor, type 5C [RCV001553981]|Severe neurodegenerative syndrome with lipodystrophy [RCV001553923]|not provided [RCV000829655]|not specified [RCV000247876] |
Chr11:62692522 [GRCh38]
Chr11:62459994 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.1006-50T>G |
single nucleotide variant |
not provided [RCV001571698]|not specified [RCV000250535] |
Chr11:62691191 [GRCh38]
Chr11:62458663 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001859815]|Congenital generalized lipodystrophy type 2 [RCV000265700]|Neuronopathy, distal hereditary motor, type 5A [RCV000309083] |
Chr11:62692683 [GRCh38]
Chr11:62460155 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe) |
single nucleotide variant |
BSCL2-related disorder [RCV003950023]|Congenital generalized lipodystrophy type 2 [RCV000302313]|Neuronopathy, distal hereditary motor, type 5A [RCV000398286] |
Chr11:62705521 [GRCh38]
Chr11:62472993 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.88-662C>A |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000286276]|Hereditary spastic paraplegia [RCV001848084]|Neuronopathy, distal hereditary motor, type 5A [RCV000378430]|not provided [RCV001778896] |
Chr11:62706279 [GRCh38]
Chr11:62473751 [GRCh37]
Chr11:11q12.3 |
benign|likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.615C>T (p.Ser205=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001496139]|Congenital generalized lipodystrophy type 2 [RCV000326138]|Inborn genetic diseases [RCV002328805]|Neuronopathy, distal hereditary motor, type 5A [RCV000387742]|not provided [RCV000827121] |
Chr11:62694583 [GRCh38]
Chr11:62462055 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.88-674G>T |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000347286]|Neuronopathy, distal hereditary motor, type 5A [RCV000289942] |
Chr11:62706291 [GRCh38]
Chr11:62473763 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001089354]|Congenital generalized lipodystrophy type 2 [RCV000351350]|Inborn genetic diseases [RCV002392840]|Neuronopathy, distal hereditary motor, type 5A [RCV000389555]|not provided [RCV000865057]|not specified [RCV000614057] |
Chr11:62691346 [GRCh38]
Chr11:62458818 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000381003]|Neuronopathy, distal hereditary motor, type 5A [RCV000289418] |
Chr11:62691093 [GRCh38]
Chr11:62458565 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1234+14T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002056213]|Congenital generalized lipodystrophy type 2 [RCV000259295]|Neuronopathy, distal hereditary motor, type 5A [RCV000298141] |
Chr11:62690598 [GRCh38]
Chr11:62458070 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) |
single nucleotide variant |
BSCL2-related disorder [RCV003950022]|Charcot-Marie-Tooth disease type 2 [RCV000560796]|Congenital generalized lipodystrophy type 2 [RCV000350116]|Inborn genetic diseases [RCV002365350]|Neuronopathy, distal hereditary motor, type 5A [RCV000292822]|not provided [RCV001700048]|not specified [RCV000422175] |
Chr11:62692378 [GRCh38]
Chr11:62459850 [GRCh37]
Chr11:11q12.3 |
benign|likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.88-613G>A |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000371339]|Neuronopathy, distal hereditary motor, type 5A [RCV000274228]|not provided [RCV002280114] |
Chr11:62706230 [GRCh38]
Chr11:62473702 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000393471]|Neuronopathy, distal hereditary motor, type 5A [RCV000314309]|not provided [RCV000710229]|not specified [RCV000517690] |
Chr11:62705581 [GRCh38]
Chr11:62473053 [GRCh37]
Chr11:11q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.88-634G>C |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000263780]|Neuronopathy, distal hereditary motor, type 5A [RCV000316667] |
Chr11:62706251 [GRCh38]
Chr11:62473723 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) |
single nucleotide variant |
BSCL2-related disorder [RCV003940156]|Charcot-Marie-Tooth disease type 2 [RCV001083807]|Congenital generalized lipodystrophy type 2 [RCV000401336]|Inborn genetic diseases [RCV002365351]|Monogenic diabetes [RCV001174402]|Neuronopathy, distal hereditary motor, type 5A [RCV000301053]|not provided [RCV000431177]|not specified [RCV000518650] |
Chr11:62692394 [GRCh38]
Chr11:62459866 [GRCh37]
Chr11:11q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.88-663G>A |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000320380]|Hereditary spastic paraplegia [RCV001848085]|Neuronopathy, distal hereditary motor, type 5A [RCV000377296]|not provided [RCV001778897] |
Chr11:62706280 [GRCh38]
Chr11:62473752 [GRCh37]
Chr11:11q12.3 |
benign|likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000386644]|Neuronopathy, distal hereditary motor, type 5A [RCV000280589] |
Chr11:62694654 [GRCh38]
Chr11:62462126 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.*49T>G |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000407298]|Neuronopathy, distal hereditary motor, type 5A [RCV000367640] |
Chr11:62690318 [GRCh38]
Chr11:62457790 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001850441]|Congenital generalized lipodystrophy type 2 [RCV002487263]|Inborn genetic diseases [RCV002411169]|not provided [RCV000316610] |
Chr11:62691317 [GRCh38]
Chr11:62458789 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000310424]|Neuronopathy, distal hereditary motor, type 5A [RCV000362779] |
Chr11:62705574 [GRCh38]
Chr11:62473046 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001089069]|Congenital generalized lipodystrophy type 2 [RCV000335926]|Inborn genetic diseases [RCV002365352]|Neuronopathy, distal hereditary motor, type 5A [RCV000399378]|not provided [RCV000866662] |
Chr11:62692416 [GRCh38]
Chr11:62459888 [GRCh37]
Chr11:11q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001513013]|Congenital generalized lipodystrophy type 2 [RCV000402160]|Congenital generalized lipodystrophy type 2 [RCV002504064]|Neuronopathy, distal hereditary motor, type 5A [RCV000340748]|not provided [RCV000713442] |
Chr11:62705572 [GRCh38]
Chr11:62473044 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_001122955.4(BSCL2):c.1317C>A (p.Val439=) |
single nucleotide variant |
Inborn genetic diseases [RCV002436229]|PPARG-related familial partial lipodystrophy [RCV000408866] |
Chr11:62690439 [GRCh38]
Chr11:62457911 [GRCh37]
Chr11:11q12.3 |
likely pathogenic|likely benign |
| NM_012202.5(GNG3):c.91C>T (p.Arg31Trp) |
single nucleotide variant |
not provided [RCV000487748] |
Chr11:62708386 [GRCh38]
Chr11:62475858 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.605G>A (p.Arg202Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000548732]|not provided [RCV000488320] |
Chr11:62694593 [GRCh38]
Chr11:62462065 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.88-620A>C |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000356267]|Neuronopathy, distal hereditary motor, type 5A [RCV000331883] |
Chr11:62706237 [GRCh38]
Chr11:62473709 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1234+7G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001421953]|Congenital generalized lipodystrophy type 2 [RCV001105808]|Hereditary spastic paraplegia [RCV001848989]|Neuronopathy, distal hereditary motor, type 5A [RCV001105807]|not provided [RCV002227188]|not specified [RCV000604138] |
Chr11:62690605 [GRCh38]
Chr11:62458077 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.630+11G>T |
single nucleotide variant |
not provided [RCV001697967] |
Chr11:62694557 [GRCh38]
Chr11:62462029 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1193C>T (p.Pro398Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000624133] |
Chr11:62690653 [GRCh38]
Chr11:62458125 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.478C>T (p.Arg160Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000528034]|Congenital generalized lipodystrophy type 2 [RCV005049602] |
Chr11:62702476 [GRCh38]
Chr11:62469948 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.285T>G (p.Phe95Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000817789]|not provided [RCV003480868]|not specified [RCV004768696] |
Chr11:62705420 [GRCh38]
Chr11:62472892 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.864-2A>C |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000412540] |
Chr11:62691423 [GRCh38]
Chr11:62458895 [GRCh37]
Chr11:11q12.3 |
pathogenic|not provided |
| NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs) |
indel |
Berardinelli-Seip congenital lipodystrophy [RCV003311800]|Congenital generalized lipodystrophy type 2 [RCV000412545] |
Chr11:62705320 [GRCh38]
Chr11:62472792 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance|not provided |
| NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003743704]|Congenital generalized lipodystrophy type 2 [RCV000412592] |
Chr11:62705371 [GRCh38]
Chr11:62472843 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance|not provided |
| NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) |
duplication |
BSCL2-related disorder [RCV004701455]|Berardinelli-Seip congenital lipodystrophy [RCV003311803]|Charcot-Marie-Tooth disease type 2 [RCV001387719]|Congenital generalized lipodystrophy type 2 [RCV000412601]|Congenital generalized lipodystrophy type 2 [RCV002502439]|Congenital generalized lipodystrophy type 2 [RCV004796166]|not provided [RCV002473000] |
Chr11:62691310..62691311 [GRCh38]
Chr11:62458782..62458783 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.766-2A>G |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311801]|Congenital generalized lipodystrophy type 2 [RCV000412607] |
Chr11:62692475 [GRCh38]
Chr11:62459947 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.864-2A>G |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311802]|Congenital generalized lipodystrophy type 2 [RCV000412618]|Congenital generalized lipodystrophy type 2 [RCV005049541] |
Chr11:62691423 [GRCh38]
Chr11:62458895 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance|not provided |
| NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs) |
duplication |
Berardinelli-Seip congenital lipodystrophy [RCV003311799]|Congenital generalized lipodystrophy type 2 [RCV000412654] |
Chr11:62705357..62705358 [GRCh38]
Chr11:62472829..62472830 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance|not provided |
| NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000533481]|Congenital generalized lipodystrophy type 2 [RCV002483492]|Inborn genetic diseases [RCV002377176]|not provided [RCV001508668] |
Chr11:62690793 [GRCh38]
Chr11:62458265 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002535174]|Congenital generalized lipodystrophy type 2 [RCV002493330]|not provided [RCV000730857] |
Chr11:62692433 [GRCh38]
Chr11:62459905 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.621T>C (p.Ser207=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005090809]|Inborn genetic diseases [RCV002328967]|not specified [RCV000417509] |
Chr11:62694577 [GRCh38]
Chr11:62462049 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000653947]|Congenital generalized lipodystrophy type 2 [RCV002488949]|Hereditary spastic paraplegia [RCV001848785]|Inborn genetic diseases [RCV002451026]|Severe neurodegenerative syndrome with lipodystrophy [RCV001335243]|not provided [RCV000441284] |
Chr11:62690474 [GRCh38]
Chr11:62457946 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1006-8C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002524893]|not provided [RCV001662383]|not specified [RCV000441305] |
Chr11:62691149 [GRCh38]
Chr11:62458621 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.770T>A (p.Val257Glu) |
single nucleotide variant |
not provided [RCV000441325] |
Chr11:62692469 [GRCh38]
Chr11:62459941 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.783A>G (p.Gly261=) |
single nucleotide variant |
not provided [RCV000713443] |
Chr11:62692456 [GRCh38]
Chr11:62459928 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) |
microsatellite |
Charcot-Marie-Tooth disease type 2 [RCV000464883]|Congenital generalized lipodystrophy type 2 [RCV002488990]|Congenital generalized lipodystrophy type 2 [RCV003884539]|Inborn genetic diseases [RCV002436366]|Monogenic diabetes [RCV000445376]|not provided [RCV004591281] |
Chr11:62690446..62690451 [GRCh38]
Chr11:62457918..62457923 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.631-1G>C |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV004796180]|Monogenic diabetes [RCV000445443] |
Chr11:62692798 [GRCh38]
Chr11:62460270 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.660C>T (p.Leu220=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005055978]|Inborn genetic diseases [RCV002339058]|not specified [RCV000418216] |
Chr11:62692768 [GRCh38]
Chr11:62460240 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.870G>C (p.Leu290=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000653990]|Inborn genetic diseases [RCV002365531]|not specified [RCV000427891] |
Chr11:62691415 [GRCh38]
Chr11:62458887 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.404+15C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003581659]|not specified [RCV000442135] |
Chr11:62705286 [GRCh38]
Chr11:62472758 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000702768]|Congenital generalized lipodystrophy type 2 [RCV002481355]|Congenital generalized lipodystrophy type 2 [RCV003884540]|Monogenic diabetes [RCV000445522] |
Chr11:62705506 [GRCh38]
Chr11:62472978 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.432A>T (p.Ser144=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002059754]|Inborn genetic diseases [RCV002451017]|not provided [RCV001704393] |
Chr11:62702522 [GRCh38]
Chr11:62469994 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.88-19C>T |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV002488943]|not specified [RCV000436715] |
Chr11:62705636 [GRCh38]
Chr11:62473108 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1361G>T (p.Arg454Leu) |
single nucleotide variant |
not provided [RCV000426452] |
Chr11:62690395 [GRCh38]
Chr11:62457867 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=) |
single nucleotide variant |
BSCL2-related disorder [RCV003922753]|Charcot-Marie-Tooth disease type 2 [RCV000868324]|Inborn genetic diseases [RCV002429384]|not specified [RCV000433307] |
Chr11:62691130 [GRCh38]
Chr11:62458602 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.130G>C (p.Gly44Arg) |
single nucleotide variant |
not specified [RCV000437072] |
Chr11:62705575 [GRCh38]
Chr11:62473047 [GRCh37]
Chr11:11q12.3 |
likely benign |
| GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1 |
copy number loss |
See cases [RCV000448355] |
Chr11:61840997..62987330 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs) |
deletion |
Berardinelli-Seip congenital lipodystrophy [RCV003311824]|Congenital generalized lipodystrophy type 2 [RCV000487432]|Lipodystrophy [RCV001836829] |
Chr11:62692385..62692395 [GRCh38]
Chr11:62459857..62459867 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.968G>C (p.Trp323Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000471861]|not provided [RCV005230408]|not specified [RCV000517808] |
Chr11:62691317 [GRCh38]
Chr11:62458789 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser) |
single nucleotide variant |
BSCL2-related Developmental and epileptic encephalopathy [RCV001836825]|Charcot-Marie-Tooth disease type 2 [RCV000460819]|Inborn genetic diseases [RCV002323748]|not provided [RCV002266964] |
Chr11:62690402 [GRCh38]
Chr11:62457874 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000464780]|Congenital generalized lipodystrophy type 2 [RCV002489080]|Hereditary spastic paraplegia [RCV001848815]|Inborn genetic diseases [RCV002374810]|not provided [RCV001091623]|not specified [RCV003317226] |
Chr11:62690795 [GRCh38]
Chr11:62458267 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.311T>A (p.Leu104His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001234361]|not provided [RCV000485905] |
Chr11:62705394 [GRCh38]
Chr11:62472866 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.923C>T (p.Thr308Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000472825]|not provided [RCV003480644] |
Chr11:62691362 [GRCh38]
Chr11:62458834 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.942dup (p.Leu315fs) |
duplication |
Congenital generalized lipodystrophy type 2 [RCV000503732] |
Chr11:62691342..62691343 [GRCh38]
Chr11:62458814..62458815 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV002489212]|not provided [RCV000493815] |
Chr11:62707134 [GRCh38]
Chr11:62474606 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.680TCT[1] (p.Phe228del) |
microsatellite |
Charcot-Marie-Tooth disease type 2 [RCV001070223]|not provided [RCV000494386] |
Chr11:62692743..62692745 [GRCh38]
Chr11:62460215..62460217 [GRCh37]
Chr11:11q12.3 |
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 |
| 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_001122955.4(BSCL2):c.992G>A (p.Arg331His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000698889]|Inborn genetic diseases [RCV002422548]|not provided [RCV004723101] |
Chr11:62691293 [GRCh38]
Chr11:62458765 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000532138]|Congenital generalized lipodystrophy type 2 [RCV002491102]|Inborn genetic diseases [RCV002377175]|not provided [RCV003313104] |
Chr11:62691078 [GRCh38]
Chr11:62458550 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000554606]|Congenital generalized lipodystrophy type 2 [RCV003147507]|Congenital generalized lipodystrophy type 2 [RCV005049603]|Hereditary spastic paraplegia [RCV001848974]|Inborn genetic diseases [RCV002367959]|not provided [RCV000994647]|not specified [RCV001821649] |
Chr11:62692395 [GRCh38]
Chr11:62459867 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.299G>A (p.Cys100Tyr) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003312922] |
Chr11:62705406 [GRCh38]
Chr11:62472878 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.249C>T (p.Val83=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000541985]|Inborn genetic diseases [RCV002358613] |
Chr11:62705456 [GRCh38]
Chr11:62472928 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.506C>T (p.Pro169Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000536090] |
Chr11:62694692 [GRCh38]
Chr11:62462164 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.166G>A (p.Gly56Arg) |
single nucleotide variant |
not specified [RCV000615213] |
Chr11:62705539 [GRCh38]
Chr11:62473011 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311850]|Charcot-Marie-Tooth disease [RCV000789082]|Charcot-Marie-Tooth disease type 2 [RCV000536990]|Hereditary spastic paraplegia 17 [RCV002284966]|Neuronopathy, distal hereditary motor, type 5C [RCV001270682] |
Chr11:62702493 [GRCh38]
Chr11:62469965 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_001122955.4(BSCL2):c.306C>T (p.Ile102=) |
single nucleotide variant |
Inborn genetic diseases [RCV002456363]|not specified [RCV000612540] |
Chr11:62705399 [GRCh38]
Chr11:62472871 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.358_376del (p.Tyr120fs) |
deletion |
Berardinelli-Seip congenital lipodystrophy [RCV003312923] |
Chr11:62705329..62705347 [GRCh38]
Chr11:62472801..62472819 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.529G>T (p.Glu177Ter) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003312926] |
Chr11:62694669 [GRCh38]
Chr11:62462141 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.752A>G (p.Tyr251Cys) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003312930] |
Chr11:62692676 [GRCh38]
Chr11:62460148 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1072+7dup |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV000654020] |
Chr11:62691067..62691068 [GRCh38]
Chr11:62458539..62458540 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1276A>G (p.Asn426Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000653841] |
Chr11:62690480 [GRCh38]
Chr11:62457952 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.405-7C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000653959] |
Chr11:62702556 [GRCh38]
Chr11:62470028 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.486+7A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000653957] |
Chr11:62702461 [GRCh38]
Chr11:62469933 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000654025]|Inborn genetic diseases [RCV002369759]|Severe neurodegenerative syndrome with lipodystrophy [RCV001331509] |
Chr11:62690839 [GRCh38]
Chr11:62458311 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NC_000011.9:g.(?_62457819)_(62462203_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV000654031] |
Chr11:62690347..62694731 [GRCh38]
Chr11:62457819..62462203 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.408C>T (p.Thr136=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000654004]|Inborn genetic diseases [RCV002422419] |
Chr11:62702546 [GRCh38]
Chr11:62470018 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1254T>C (p.Asp418=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001483316]|Inborn genetic diseases [RCV002406476] |
Chr11:62690502 [GRCh38]
Chr11:62457974 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NC_000011.10:g.(?_62702448)_(62702569_?)del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV000654033] |
Chr11:62702448..62702569 [GRCh38]
Chr11:62469920..62470041 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.88-588T>C |
single nucleotide variant |
not specified [RCV000608661] |
Chr11:62706205 [GRCh38]
Chr11:62473677 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002531626]|Congenital generalized lipodystrophy type 2 [RCV001104263]|Inborn genetic diseases [RCV002358728]|Neuronopathy, distal hereditary motor, type 5A [RCV001104262]|not specified [RCV000611592] |
Chr11:62692429 [GRCh38]
Chr11:62459901 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.1234+19C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002531516]|not specified [RCV000614516] |
Chr11:62690593 [GRCh38]
Chr11:62458065 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1108_1109del (p.Asp370fs) |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV000544751] |
Chr11:62690831..62690832 [GRCh38]
Chr11:62458303..62458304 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.866A>G (p.Tyr289Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000699480] |
Chr11:62691419 [GRCh38]
Chr11:62458891 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000687331]|Congenital generalized lipodystrophy type 2 [RCV002493153] |
Chr11:62692466 [GRCh38]
Chr11:62459938 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000686002]|Congenital generalized lipodystrophy type 2 [RCV000763757]|Congenital generalized lipodystrophy type 2 [RCV005049655]|Hereditary spastic paraplegia [RCV001849047] |
Chr11:62690458 [GRCh38]
Chr11:62457930 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000688210]|Congenital generalized lipodystrophy type 2 [RCV001106916]|Congenital generalized lipodystrophy type 2 [RCV002493159]|Inborn genetic diseases [RCV003343990]|Neuronopathy, distal hereditary motor, type 5A [RCV001106915] |
Chr11:62690644 [GRCh38]
Chr11:62458116 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1038G>T (p.Lys346Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000691320] |
Chr11:62691109 [GRCh38]
Chr11:62458581 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000690113]|Congenital generalized lipodystrophy type 2 [RCV002485632]|Inborn genetic diseases [RCV002397389]|not provided [RCV005054247] |
Chr11:62705346 [GRCh38]
Chr11:62472818 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.1120G>T (p.Asp374Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000699605] |
Chr11:62690820 [GRCh38]
Chr11:62458292 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.679G>T (p.Val227Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000705740] |
Chr11:62692749 [GRCh38]
Chr11:62460221 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.632T>C (p.Val211Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000697169]|Inborn genetic diseases [RCV002332464] |
Chr11:62692796 [GRCh38]
Chr11:62460268 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.630G>A (p.Ser210=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000818318]|Congenital generalized lipodystrophy type 2 [RCV002487813] |
Chr11:62694568 [GRCh38]
Chr11:62462040 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| 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_001122955.4(BSCL2):c.507G>T (p.Pro169=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001417981] |
Chr11:62694691 [GRCh38]
Chr11:62462163 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001304484]|Congenital generalized lipodystrophy type 2 [RCV000761420] |
Chr11:62692463 [GRCh38]
Chr11:62459935 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.1235-2A>C |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000761421] |
Chr11:62690523 [GRCh38]
Chr11:62457995 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.132T>A (p.Gly44=) |
single nucleotide variant |
not provided [RCV000761776] |
Chr11:62705573 [GRCh38]
Chr11:62473045 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.404+1G>T |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000754916] |
Chr11:62705300 [GRCh38]
Chr11:62472772 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.737_738insCCG (p.Glu246delinsAspArg) |
insertion |
Congenital generalized lipodystrophy type 2 [RCV000754918] |
Chr11:62692690..62692691 [GRCh38]
Chr11:62460162..62460163 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.402C>G (p.Tyr134Ter) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV000754919] |
Chr11:62705303 [GRCh38]
Chr11:62472775 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.631-6C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005092991]|not provided [RCV000993056] |
Chr11:62692803 [GRCh38]
Chr11:62460275 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.39G>A (p.Gly13=) |
single nucleotide variant |
not provided [RCV003456776] |
Chr11:62707157 [GRCh38]
Chr11:62474629 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000983962]|Inborn genetic diseases [RCV004030093]|not provided [RCV001559073] |
Chr11:62690838 [GRCh38]
Chr11:62458310 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.486+8T>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000867569]|not specified [RCV001664504] |
Chr11:62702460 [GRCh38]
Chr11:62469932 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.404+10G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000868390] |
Chr11:62705291 [GRCh38]
Chr11:62472763 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002064614]|Congenital generalized lipodystrophy type 2 [RCV005049717]|not provided [RCV003328472] |
Chr11:62694666 [GRCh38]
Chr11:62462138 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.297C>T (p.Phe99=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001477644] |
Chr11:62705408 [GRCh38]
Chr11:62472880 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.546T>C (p.Pro182=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001432311] |
Chr11:62694652 [GRCh38]
Chr11:62462124 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.906T>G (p.Gly302=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001474521] |
Chr11:62691379 [GRCh38]
Chr11:62458851 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000864966]|Congenital generalized lipodystrophy type 2 [RCV002478964] |
Chr11:62694574 [GRCh38]
Chr11:62462046 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.345C>T (p.Ser115=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000865472] |
Chr11:62705360 [GRCh38]
Chr11:62472832 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.843C>T (p.His281=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000868858] |
Chr11:62692396 [GRCh38]
Chr11:62459868 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001062121]|Congenital generalized lipodystrophy type 2 [RCV002489675] |
Chr11:62705448 [GRCh38]
Chr11:62472920 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp) |
single nucleotide variant |
BSCL2-related disorder [RCV003918652]|Charcot-Marie-Tooth disease type 2 [RCV001043106]|Congenital generalized lipodystrophy type 2 [RCV005049741]|Neuronopathy, distal hereditary motor, type 5C [RCV002221260] |
Chr11:62691114 [GRCh38]
Chr11:62458586 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001061580]|Congenital generalized lipodystrophy type 2 [RCV005049754]|Inborn genetic diseases [RCV002418520] |
Chr11:62705435 [GRCh38]
Chr11:62472907 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.336C>G (p.Leu112=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001041932] |
Chr11:62705369 [GRCh38]
Chr11:62472841 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.1096A>G (p.Thr366Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001048120] |
Chr11:62690844 [GRCh38]
Chr11:62458316 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.209C>T (p.Pro70Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001060434] |
Chr11:62705496 [GRCh38]
Chr11:62472968 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) |
microsatellite |
Charcot-Marie-Tooth disease type 2 [RCV000862805]|Congenital generalized lipodystrophy type 2 [RCV002468078]|Inborn genetic diseases [RCV002345950]|Monogenic diabetes [RCV001174399]|not provided [RCV003442125] |
Chr11:62690634..62690636 [GRCh38]
Chr11:62458106..62458108 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain risk allele|uncertain significance |
| NM_001122955.4(BSCL2):c.1374C>T (p.Thr458=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001505022] |
Chr11:62690382 [GRCh38]
Chr11:62457854 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.612C>T (p.Ile204=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001427915] |
Chr11:62694586 [GRCh38]
Chr11:62462058 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.585C>G (p.Ser195=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001431803] |
Chr11:62694613 [GRCh38]
Chr11:62462085 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.631-6C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000861941]|Inborn genetic diseases [RCV002332764] |
Chr11:62692803 [GRCh38]
Chr11:62460275 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1320A>G (p.Leu440=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001409173] |
Chr11:62690436 [GRCh38]
Chr11:62457908 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000891829] |
Chr11:62692675 [GRCh38]
Chr11:62460147 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.479G>A (p.Arg160His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003097685]|Congenital generalized lipodystrophy type 2 [RCV005050556]|Hereditary spastic paraplegia 17 [RCV002285004]|not specified [RCV005239350] |
Chr11:62702475 [GRCh38]
Chr11:62469947 [GRCh37]
Chr11:11q12.3 |
uncertain significance|not provided |
| NM_001122955.4(BSCL2):c.464T>C (p.Leu155Pro) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003312925] |
Chr11:62702490 [GRCh38]
Chr11:62469962 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.631-2A>C |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003312929] |
Chr11:62692799 [GRCh38]
Chr11:62460271 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.876C>G (p.Tyr292Ter) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003312931] |
Chr11:62691409 [GRCh38]
Chr11:62458881 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.765+69A>G |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV001553984]|Hereditary spastic paraplegia 17 [RCV001553986]|Neuronopathy, distal hereditary motor, type 5C [RCV001553985]|Severe neurodegenerative syndrome with lipodystrophy [RCV001553983]|not provided [RCV000837727] |
Chr11:62692594 [GRCh38]
Chr11:62460066 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.487-129G>T |
single nucleotide variant |
not provided [RCV000837809] |
Chr11:62694840 [GRCh38]
Chr11:62462312 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) |
microsatellite |
Charcot-Marie-Tooth disease type 2 [RCV000800835]|Congenital generalized lipodystrophy type 2 [RCV002495067]|not provided [RCV001772066] |
Chr11:62690445..62690446 [GRCh38]
Chr11:62457917..62457918 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1034G>T (p.Arg345Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000792857] |
Chr11:62691113 [GRCh38]
Chr11:62458585 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_032667.6:c.574-49T>C |
single nucleotide variant |
not provided [RCV000829655] |
Chr11:62459994 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser) |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003311890]|Charcot-Marie-Tooth disease [RCV001027498]|Charcot-Marie-Tooth disease type 2 [RCV000794765]|Neuronopathy, distal hereditary motor, type 5C [RCV004789193]|not provided [RCV004997325] |
Chr11:62702476 [GRCh38]
Chr11:62469948 [GRCh37]
Chr11:11q12.3 |
likely pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.487-34A>T |
single nucleotide variant |
not provided [RCV000833494] |
Chr11:62694745 [GRCh38]
Chr11:62462217 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.486+123G>A |
single nucleotide variant |
not provided [RCV000836808] |
Chr11:62702345 [GRCh38]
Chr11:62469817 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.766-79G>T |
single nucleotide variant |
not provided [RCV000837132] |
Chr11:62692552 [GRCh38]
Chr11:62460024 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000817177]|Congenital generalized lipodystrophy type 2 [RCV002487805] |
Chr11:62690512 [GRCh38]
Chr11:62457984 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1234+6G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000821986]|Congenital generalized lipodystrophy type 2 [RCV005049711] |
Chr11:62690606 [GRCh38]
Chr11:62458078 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000823295]|Congenital generalized lipodystrophy type 2 [RCV002487853] |
Chr11:62690686 [GRCh38]
Chr11:62458158 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.486+182C>T |
single nucleotide variant |
not provided [RCV000836867] |
Chr11:62702286 [GRCh38]
Chr11:62469758 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.666G>C (p.Met222Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001337734]|Inborn genetic diseases [RCV002327221]|not provided [RCV000994648] |
Chr11:62692762 [GRCh38]
Chr11:62460234 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.266G>C (p.Arg89Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000803805] |
Chr11:62705439 [GRCh38]
Chr11:62472911 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV002250727]|not provided [RCV001091625] |
Chr11:62705301 [GRCh38]
Chr11:62472773 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.846G>A (p.Ala282=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000864157]|Hereditary spastic paraplegia [RCV001847050] |
Chr11:62692393 [GRCh38]
Chr11:62459865 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.1141C>A (p.Pro381Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000796804] |
Chr11:62690799 [GRCh38]
Chr11:62458271 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000797348] |
Chr11:62702494 [GRCh38]
Chr11:62469966 [GRCh37]
Chr11:11q12.3 |
likely pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.344C>T (p.Ser115Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000797497]|not specified [RCV004526774] |
Chr11:62705361 [GRCh38]
Chr11:62472833 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_032667.6(BSCL2):c.-1574T>G |
single nucleotide variant |
not provided [RCV000827691] |
Chr11:62707671 [GRCh38]
Chr11:62475143 [GRCh37]
Chr11:11q12.3 |
likely benign |
| GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3 |
copy number gain |
not provided [RCV000849841] |
Chr11:62314663..62788240 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001228343]|Congenital generalized lipodystrophy type 2 [RCV005050297]|Inborn genetic diseases [RCV002436884]|not provided [RCV001310601] |
Chr11:62702488 [GRCh38]
Chr11:62469960 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4]) |
microsatellite |
Charcot-Marie-Tooth disease type 2 [RCV001213787]|Inborn genetic diseases [RCV002429907]|not provided [RCV003319452] |
Chr11:62690456..62690457 [GRCh38]
Chr11:62457928..62457929 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.835C>T (p.Arg279Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001224190]|not provided [RCV002261311] |
Chr11:62692404 [GRCh38]
Chr11:62459876 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001224191]|Congenital generalized lipodystrophy type 2 [RCV005050293]|Inborn genetic diseases [RCV002418777] |
Chr11:62691281 [GRCh38]
Chr11:62458753 [GRCh37]
Chr11:11q12.3 |
likely pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001223580]|Congenital generalized lipodystrophy type 2 [RCV002480738]|not provided [RCV003482346] |
Chr11:62690456 [GRCh38]
Chr11:62457928 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1126G>T (p.Glu376Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001240096] |
Chr11:62690814 [GRCh38]
Chr11:62458286 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.1361_1386del (p.Arg454fs) |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV001218067]|Congenital generalized lipodystrophy type 2 [RCV005049797] |
Chr11:62690370..62690395 [GRCh38]
Chr11:62457842..62457867 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic |
| NM_001122955.4(BSCL2):c.1154-1del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV001232406] |
Chr11:62690693 [GRCh38]
Chr11:62458165 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.765G>T (p.Ser255=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001210702]|Inborn genetic diseases [RCV004033803] |
Chr11:62692663 [GRCh38]
Chr11:62460135 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.419C>G (p.Ser140Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001869376]|not provided [RCV000993054] |
Chr11:62702535 [GRCh38]
Chr11:62470007 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1369C>T (p.Pro457Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005092999]|not provided [RCV000994646] |
Chr11:62690387 [GRCh38]
Chr11:62457859 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1116del (p.Glu373fs) |
deletion |
See cases [RCV003232938] |
Chr11:62690824 [GRCh38]
Chr11:62458296 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.907G>A (p.Val303Ile) |
single nucleotide variant |
not provided [RCV001546385] |
Chr11:62691378 [GRCh38]
Chr11:62458850 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.764C>T (p.Ser255Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003240265] |
Chr11:62692664 [GRCh38]
Chr11:62460136 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1153+26C>T |
single nucleotide variant |
BSCL2-related disorder [RCV003941073]|not provided [RCV001686736] |
Chr11:62690761 [GRCh38]
Chr11:62458233 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.404+207A>T |
single nucleotide variant |
not provided [RCV001576574] |
Chr11:62705094 [GRCh38]
Chr11:62472566 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.87+64_87+66del |
deletion |
not provided [RCV001717491] |
Chr11:62707043..62707045 [GRCh38]
Chr11:62474515..62474517 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.405-205_405-202del |
microsatellite |
not provided [RCV001557005] |
Chr11:62702751..62702754 [GRCh38]
Chr11:62470223..62470226 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001386027.1(BSCL2):c.-129-457C>G |
single nucleotide variant |
not provided [RCV001652556] |
Chr11:62707781 [GRCh38]
Chr11:62475253 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.348C>T (p.Phe116=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001429270] |
Chr11:62705357 [GRCh38]
Chr11:62472829 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.631-9C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000938503] |
Chr11:62692806 [GRCh38]
Chr11:62460278 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1047A>G (p.Gln349=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000866876] |
Chr11:62691100 [GRCh38]
Chr11:62458572 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1153+8G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000892251] |
Chr11:62690779 [GRCh38]
Chr11:62458251 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.774G>A (p.Pro258=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002064702] |
Chr11:62692465 [GRCh38]
Chr11:62459937 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012202.5(GNG3):c.135T>C (p.Cys45=) |
single nucleotide variant |
not provided [RCV000932013] |
Chr11:62708713 [GRCh38]
Chr11:62476185 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_001122955.4(BSCL2):c.792T>C (p.Ile264=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000980683] |
Chr11:62692447 [GRCh38]
Chr11:62459919 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1212G>A (p.Glu404=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV000983348] |
Chr11:62690634 [GRCh38]
Chr11:62458106 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1373C>T (p.Thr458Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001207301] |
Chr11:62690383 [GRCh38]
Chr11:62457855 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1376G>A (p.Cys459Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001036263] |
Chr11:62690380 [GRCh38]
Chr11:62457852 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.947T>G (p.Phe316Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001208960] |
Chr11:62691338 [GRCh38]
Chr11:62458810 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001209095]|Congenital generalized lipodystrophy type 2 [RCV002484131]|Inborn genetic diseases [RCV002447070] |
Chr11:62691076 [GRCh38]
Chr11:62458548 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.974del (p.Gly325fs) |
deletion |
Severe neurodegenerative syndrome with lipodystrophy [RCV001196242] |
Chr11:62691311 [GRCh38]
Chr11:62458783 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.849C>G (p.His283Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001224970] |
Chr11:62692390 [GRCh38]
Chr11:62459862 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.422C>T (p.Ser141Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001858766]|not provided [RCV000993055] |
Chr11:62702532 [GRCh38]
Chr11:62470004 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.2(BSCL2):c.-525C>T |
single nucleotide variant |
not provided [RCV001562878] |
Chr11:62707720 [GRCh38]
Chr11:62475192 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.487-255C>T |
single nucleotide variant |
not provided [RCV001676101] |
Chr11:62694966 [GRCh38]
Chr11:62462438 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.630+64G>T |
single nucleotide variant |
not provided [RCV001576552] |
Chr11:62694504 [GRCh38]
Chr11:62461976 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.618TTC[1] (p.Ser208del) |
microsatellite |
not provided [RCV002469759] |
Chr11:62694575..62694577 [GRCh38]
Chr11:62462047..62462049 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.425C>T (p.Thr142Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005094735]|not provided [RCV001531736] |
Chr11:62702529 [GRCh38]
Chr11:62470001 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.-172T>C |
single nucleotide variant |
not provided [RCV001671555] |
Chr11:62707367 [GRCh38]
Chr11:62474839 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.88-459G>A |
single nucleotide variant |
not provided [RCV001672143] |
Chr11:62706076 [GRCh38]
Chr11:62473548 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.1234+20G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002073003]|Congenital generalized lipodystrophy type 2 [RCV002501990]|not provided [RCV001656292] |
Chr11:62690592 [GRCh38]
Chr11:62458064 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_001122955.4(BSCL2):c.404+207dup |
duplication |
not provided [RCV001598261] |
Chr11:62705075..62705076 [GRCh38]
Chr11:62472547..62472548 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001856438]|Congenital generalized lipodystrophy type 2 [RCV001107586]|Congenital generalized lipodystrophy type 2 [RCV002480477]|Neuronopathy, distal hereditary motor, type 5A [RCV001107587] |
Chr11:62691299 [GRCh38]
Chr11:62458771 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002069757]|Congenital generalized lipodystrophy type 2 [RCV001106919]|Neuronopathy, distal hereditary motor, type 5A [RCV001106920]|not specified [RCV004998650] |
Chr11:62690646 [GRCh38]
Chr11:62458118 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001327834]|Congenital generalized lipodystrophy type 2 [RCV001107585]|Neuronopathy, distal hereditary motor, type 5A [RCV001107584] |
Chr11:62691294 [GRCh38]
Chr11:62458766 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1313C>T (p.Pro438Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001206636] |
Chr11:62690443 [GRCh38]
Chr11:62457915 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.859C>T (p.Leu287Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001053294] |
Chr11:62692380 [GRCh38]
Chr11:62459852 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.214C>G (p.Pro72Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001216682]|Congenital generalized lipodystrophy type 2 [RCV005049793] |
Chr11:62705491 [GRCh38]
Chr11:62472963 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.809G>A (p.Arg270His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001054049]|Inborn genetic diseases [RCV002553768]|not provided [RCV001815495] |
Chr11:62692430 [GRCh38]
Chr11:62459902 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.*58G>A |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV001103860]|Neuronopathy, distal hereditary motor, type 5A [RCV001103859] |
Chr11:62690309 [GRCh38]
Chr11:62457781 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.969G>T (p.Trp323Cys) |
single nucleotide variant |
Monogenic diabetes [RCV001174401] |
Chr11:62691316 [GRCh38]
Chr11:62458788 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.388G>T (p.Val130Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001215816] |
Chr11:62705317 [GRCh38]
Chr11:62472789 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1005+3C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001217371]|Congenital generalized lipodystrophy type 2 [RCV005049794]|Inborn genetic diseases [RCV004034029] |
Chr11:62691277 [GRCh38]
Chr11:62458749 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.514G>T (p.Val172Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001218442] |
Chr11:62694684 [GRCh38]
Chr11:62462156 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001064393]|Congenital generalized lipodystrophy type 2 [RCV002489685] |
Chr11:62690843 [GRCh38]
Chr11:62458315 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.940G>A (p.Val314Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001055720]|not provided [RCV004792687] |
Chr11:62691345 [GRCh38]
Chr11:62458817 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.486+1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001047252]|Congenital generalized lipodystrophy type 2 [RCV005049743]|not provided [RCV001784598] |
Chr11:62702467 [GRCh38]
Chr11:62469939 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic |
| NM_001122955.4(BSCL2):c.630+5G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001202806] |
Chr11:62694563 [GRCh38]
Chr11:62462035 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.955A>G (p.Met319Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001056959] |
Chr11:62691330 [GRCh38]
Chr11:62458802 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001324676]|Congenital generalized lipodystrophy type 2 [RCV002493694]|Hereditary spastic paraplegia [RCV001847239] |
Chr11:62691125 [GRCh38]
Chr11:62458597 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.742T>C (p.Tyr248His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001349573] |
Chr11:62692686 [GRCh38]
Chr11:62460158 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012202.5(GNG3):c.12_13dup (p.Thr5fs) |
microsatellite |
Inborn genetic diseases [RCV001266230] |
Chr11:62708304..62708305 [GRCh38]
Chr11:62475776..62475777 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.54C>A (p.Cys18Ter) |
single nucleotide variant |
not provided [RCV002280038]|not specified [RCV005239345] |
Chr11:62707142 [GRCh38]
Chr11:62474614 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1234+1G>A |
single nucleotide variant |
Encephalopathy, progressive, with or without lipodystrophy [RCV001335242] |
Chr11:62690611 [GRCh38]
Chr11:62458083 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.1026C>G (p.Asp342Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001318866] |
Chr11:62691121 [GRCh38]
Chr11:62458593 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001388949]|Severe neurodegenerative syndrome with lipodystrophy [RCV001335244] |
Chr11:62690396 [GRCh38]
Chr11:62457868 [GRCh37]
Chr11:11q12.3 |
pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.512G>A (p.Arg171His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001313512] |
Chr11:62694686 [GRCh38]
Chr11:62462158 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.234G>A (p.Gln78=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001350177] |
Chr11:62705471 [GRCh38]
Chr11:62472943 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.264C>A (p.Ala88=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001396989] |
Chr11:62705441 [GRCh38]
Chr11:62472913 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1268C>T (p.Thr423Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001359636] |
Chr11:62690488 [GRCh38]
Chr11:62457960 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.361A>G (p.Met121Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001362683] |
Chr11:62705344 [GRCh38]
Chr11:62472816 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001386027.1(BSCL2):c.-129-653G>A |
single nucleotide variant |
not provided [RCV001643270] |
Chr11:62707977 [GRCh38]
Chr11:62475449 [GRCh37]
Chr11:11q12.3 |
benign |
| Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.785C>T (p.Ala262Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001323310]|Inborn genetic diseases [RCV002545122]|not provided [RCV005235563] |
Chr11:62692454 [GRCh38]
Chr11:62459926 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.631-7C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001319443] |
Chr11:62692804 [GRCh38]
Chr11:62460276 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.1106C>T (p.Ser369Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001364365] |
Chr11:62690834 [GRCh38]
Chr11:62458306 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002547336]|Congenital generalized lipodystrophy type 2 [RCV002504525]|Congenital generalized lipodystrophy type 2 [RCV003333154]|Severe neurodegenerative syndrome with lipodystrophy [RCV001335245] |
Chr11:62705338 [GRCh38]
Chr11:62472810 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1251A>G (p.Glu417=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001396168] |
Chr11:62690505 [GRCh38]
Chr11:62457977 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1016G>A (p.Arg339Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001324801] |
Chr11:62691131 [GRCh38]
Chr11:62458603 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1352G>C (p.Gly451Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001295386] |
Chr11:62690404 [GRCh38]
Chr11:62457876 [GRCh37]
Chr11:11q12.3 |
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_001122955.4(BSCL2):c.629C>T (p.Ser210Leu) |
single nucleotide variant |
Hereditary spastic paraplegia 17 [RCV001331508] |
Chr11:62694569 [GRCh38]
Chr11:62462041 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1120G>C (p.Asp374His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001327914]|Hereditary spastic paraplegia [RCV001847241] |
Chr11:62690820 [GRCh38]
Chr11:62458292 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.678G>A (p.Leu226=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001486882] |
Chr11:62692750 [GRCh38]
Chr11:62460222 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.984C>T (p.Pro328=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001502329]|not provided [RCV003222329] |
Chr11:62691301 [GRCh38]
Chr11:62458773 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.501A>G (p.Gly167=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001475302] |
Chr11:62694697 [GRCh38]
Chr11:62462169 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1113del (p.Thr372fs) |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV001390710] |
Chr11:62690827 [GRCh38]
Chr11:62458299 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.1153+7C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001491815] |
Chr11:62690780 [GRCh38]
Chr11:62458252 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.960G>A (p.Gln320=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001501908] |
Chr11:62691325 [GRCh38]
Chr11:62458797 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1006-4A>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001461357] |
Chr11:62691145 [GRCh38]
Chr11:62458617 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1311C>T (p.Ala437=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001446092] |
Chr11:62690445 [GRCh38]
Chr11:62457917 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.864-8T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001427775] |
Chr11:62691429 [GRCh38]
Chr11:62458901 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.645C>T (p.Tyr215=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001412129] |
Chr11:62692783 [GRCh38]
Chr11:62460255 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.480T>C (p.Arg160=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001432668] |
Chr11:62702474 [GRCh38]
Chr11:62469946 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1006-1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001379197] |
Chr11:62691142 [GRCh38]
Chr11:62458614 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.1235-6G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001448290]|Congenital generalized lipodystrophy type 2 [RCV002495633] |
Chr11:62690527 [GRCh38]
Chr11:62457999 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.675A>T (p.Thr225=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001427573] |
Chr11:62692753 [GRCh38]
Chr11:62460225 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.273G>A (p.Leu91=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001501657] |
Chr11:62705432 [GRCh38]
Chr11:62472904 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.404+225del |
deletion |
not provided [RCV001665386] |
Chr11:62705076 [GRCh38]
Chr11:62472548 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_001122955.4(BSCL2):c.333C>T (p.Phe111=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001460813] |
Chr11:62705372 [GRCh38]
Chr11:62472844 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.88-142C>G |
single nucleotide variant |
not provided [RCV001583439] |
Chr11:62705759 [GRCh38]
Chr11:62473231 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.768C>T (p.Tyr256=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001417194] |
Chr11:62692471 [GRCh38]
Chr11:62459943 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1143C>G (p.Pro381=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001490323] |
Chr11:62690797 [GRCh38]
Chr11:62458269 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.462G>A (p.Ser154=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001485097] |
Chr11:62702492 [GRCh38]
Chr11:62469964 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.631-10C>G |
single nucleotide variant |
not provided [RCV001776683] |
Chr11:62692807 [GRCh38]
Chr11:62460279 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV002482294]|not provided [RCV001776687] |
Chr11:62690371 [GRCh38]
Chr11:62457843 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.862dup (p.Arg288fs) |
duplication |
Congenital generalized lipodystrophy type 2 [RCV002250829] |
Chr11:62692376..62692377 [GRCh38]
Chr11:62459848..62459849 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.289G>A (p.Val97Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003101375]|Inborn genetic diseases [RCV003164357]|See cases [RCV002252845] |
Chr11:62705416 [GRCh38]
Chr11:62472888 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1179A>T (p.Lys393Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005095171]|not provided [RCV001799893] |
Chr11:62690667 [GRCh38]
Chr11:62458139 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001386027.1(BSCL2):c.-129-861C>T |
single nucleotide variant |
not provided [RCV001779635] |
Chr11:62708185 [GRCh38]
Chr11:62475657 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.88-444G>C |
single nucleotide variant |
not provided [RCV001776993] |
Chr11:62706061 [GRCh38]
Chr11:62473533 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NC_000011.10:g.62707486C>T |
single nucleotide variant |
Breast carcinoma [RCV001777125]|Reduced delayed hypersensitivity [RCV001775209]|Symphalangism affecting the proximal phalanx of the 4th finger [RCV001775210] |
Chr11:62707486 [GRCh38]
Chr11:62474958 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV002488613]|not provided [RCV001757538] |
Chr11:62690492 [GRCh38]
Chr11:62457964 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.325T>C (p.Ser109Pro) |
single nucleotide variant |
not provided [RCV001776449] |
Chr11:62705380 [GRCh38]
Chr11:62472852 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.973G>A (p.Gly325Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001868669]|not provided [RCV001755461] |
Chr11:62691312 [GRCh38]
Chr11:62458784 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.242G>A (p.Gly81Asp) |
single nucleotide variant |
not provided [RCV001755579] |
Chr11:62705463 [GRCh38]
Chr11:62472935 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1085A>T (p.Gln362Leu) |
single nucleotide variant |
not specified [RCV001822550] |
Chr11:62690855 [GRCh38]
Chr11:62458327 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del) |
microsatellite |
Charcot-Marie-Tooth disease type 2 [RCV001889054]|Neuronopathy, distal hereditary motor, type 5C [RCV003448428] |
Chr11:62690670..62690672 [GRCh38]
Chr11:62458142..62458144 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.853A>G (p.Thr285Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001875032] |
Chr11:62692386 [GRCh38]
Chr11:62459858 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1300T>C (p.Ser434Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001928182]|Congenital generalized lipodystrophy type 2 [RCV005050459] |
Chr11:62690456 [GRCh38]
Chr11:62457928 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1277A>G (p.Asn426Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001970899] |
Chr11:62690479 [GRCh38]
Chr11:62457951 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.812T>A (p.Ile271Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001914690] |
Chr11:62692427 [GRCh38]
Chr11:62459899 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.610A>G (p.Ile204Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002045562] |
Chr11:62694588 [GRCh38]
Chr11:62462060 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.631-8C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848346] |
Chr11:62692805 [GRCh38]
Chr11:62460277 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.281A>T (p.Gln94Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005095324]|Hereditary spastic paraplegia [RCV001848348] |
Chr11:62705424 [GRCh38]
Chr11:62472896 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.385_386insGA (p.Pro129fs) |
insertion |
Charcot-Marie-Tooth disease type 2 [RCV002007315] |
Chr11:62705319..62705320 [GRCh38]
Chr11:62472791..62472792 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002034752]|Hereditary spastic paraplegia [RCV001848344]|Inborn genetic diseases [RCV002397766] |
Chr11:62705346 [GRCh38]
Chr11:62472818 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1048C>G (p.Arg350Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001871176] |
Chr11:62691099 [GRCh38]
Chr11:62458571 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.630G>C (p.Ser210=) |
single nucleotide variant |
BSCL2-related disorder [RCV003968601]|Charcot-Marie-Tooth disease type 2 [RCV001872434] |
Chr11:62694568 [GRCh38]
Chr11:62462040 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.568_569insCA (p.Phe190fs) |
insertion |
Charcot-Marie-Tooth disease type 2 [RCV001970095] |
Chr11:62694629..62694630 [GRCh38]
Chr11:62462101..62462102 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.389T>C (p.Val130Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001891203] |
Chr11:62705316 [GRCh38]
Chr11:62472788 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.620C>G (p.Ser207Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002006535]|Inborn genetic diseases [RCV002579682] |
Chr11:62694578 [GRCh38]
Chr11:62462050 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.973G>T (p.Gly325Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001948446] |
Chr11:62691312 [GRCh38]
Chr11:62458784 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.507G>A (p.Pro169=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002545269]|Hereditary spastic paraplegia [RCV001848345] |
Chr11:62694691 [GRCh38]
Chr11:62462163 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1361G>A (p.Arg454Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001969944] |
Chr11:62690395 [GRCh38]
Chr11:62457867 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001948926]|not specified [RCV003120762] |
Chr11:62702469 [GRCh38]
Chr11:62469941 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.266G>T (p.Arg89Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001872342] |
Chr11:62705439 [GRCh38]
Chr11:62472911 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001909353]|Congenital generalized lipodystrophy type 2 [RCV002503564]|not provided [RCV004820218] |
Chr11:62702511 [GRCh38]
Chr11:62469983 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1281_1286dup (p.428PA[4]) |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV001987141] |
Chr11:62690469..62690470 [GRCh38]
Chr11:62457941..62457942 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NC_000011.9:g.(?_62457839)_(62462203_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV002004640] |
Chr11:62457839..62462203 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1028A>G (p.Asn343Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002543391]|Hereditary spastic paraplegia [RCV001848347] |
Chr11:62691119 [GRCh38]
Chr11:62458591 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1075C>T (p.Pro359Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001983215] |
Chr11:62690865 [GRCh38]
Chr11:62458337 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.368C>T (p.Thr123Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001887090] |
Chr11:62705337 [GRCh38]
Chr11:62472809 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.808C>T (p.Arg270Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002027229] |
Chr11:62692431 [GRCh38]
Chr11:62459903 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.452C>G (p.Ala151Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001919444] |
Chr11:62702502 [GRCh38]
Chr11:62469974 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.902T>C (p.Ile301Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001990290] |
Chr11:62691383 [GRCh38]
Chr11:62458855 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.405-11A>G |
single nucleotide variant |
Berardinelli-Seip congenital lipodystrophy [RCV003312023]|Charcot-Marie-Tooth disease type 2 [RCV001952313]|not provided [RCV003314709] |
Chr11:62702560 [GRCh38]
Chr11:62470032 [GRCh37]
Chr11:11q12.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122955.4(BSCL2):c.836G>T (p.Arg279Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001866993] |
Chr11:62692403 [GRCh38]
Chr11:62459875 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NC_000011.9:g.(?_62380754)_(62472984_?)dup |
duplication |
Larsen-like syndrome, B3GAT3 type [RCV001918889] |
Chr11:62380754..62472984 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.268A>T (p.Arg90Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001990045] |
Chr11:62705437 [GRCh38]
Chr11:62472909 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1330G>A (p.Gly444Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001976884]|Inborn genetic diseases [RCV002324435] |
Chr11:62690426 [GRCh38]
Chr11:62457898 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.971G>C (p.Gly324Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001881902] |
Chr11:62691314 [GRCh38]
Chr11:62458786 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.363G>T (p.Met121Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001951715] |
Chr11:62705342 [GRCh38]
Chr11:62472814 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.883C>A (p.Pro295Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001959236] |
Chr11:62691402 [GRCh38]
Chr11:62458874 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1171G>A (p.Glu391Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001980486] |
Chr11:62690675 [GRCh38]
Chr11:62458147 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1159C>T (p.Gln387Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001864691] |
Chr11:62690687 [GRCh38]
Chr11:62458159 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.1144T>C (p.Ser382Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001925824]|not provided [RCV004785375] |
Chr11:62690796 [GRCh38]
Chr11:62458268 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.469A>G (p.Lys157Glu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV001976183]|Inborn genetic diseases [RCV004042288] |
Chr11:62702485 [GRCh38]
Chr11:62469957 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.487-20A>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002128840]|Congenital generalized lipodystrophy type 2 [RCV002505793] |
Chr11:62694731 [GRCh38]
Chr11:62462203 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_012202.5(GNG3):c.15C>G (p.Thr5=) |
single nucleotide variant |
not provided [RCV002211187] |
Chr11:62708310 [GRCh38]
Chr11:62475782 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1359C>G (p.Leu453=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002090995] |
Chr11:62690397 [GRCh38]
Chr11:62457869 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.486+1G>T |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV002248981] |
Chr11:62702467 [GRCh38]
Chr11:62469939 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002107978]|Congenital generalized lipodystrophy type 2 [RCV002494239] |
Chr11:62690487 [GRCh38]
Chr11:62457959 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.849C>T (p.His283=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002087006] |
Chr11:62692390 [GRCh38]
Chr11:62459862 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.765G>A (p.Ser255=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003093890]|not provided [RCV002226102] |
Chr11:62692663 [GRCh38]
Chr11:62460135 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.507G>C (p.Pro169=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002085213] |
Chr11:62694691 [GRCh38]
Chr11:62462163 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.765+16G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002079587]|not provided [RCV005232868] |
Chr11:62692647 [GRCh38]
Chr11:62460119 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_001122955.4(BSCL2):c.1073-8A>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002165550] |
Chr11:62690875 [GRCh38]
Chr11:62458347 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.423C>T (p.Ser141=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002196193] |
Chr11:62702531 [GRCh38]
Chr11:62470003 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.404+11C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002172023] |
Chr11:62705290 [GRCh38]
Chr11:62472762 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.630+12_630+14del |
microsatellite |
Charcot-Marie-Tooth disease type 2 [RCV002149066] |
Chr11:62694554..62694556 [GRCh38]
Chr11:62462026..62462028 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.546T>A (p.Pro182=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002215904] |
Chr11:62694652 [GRCh38]
Chr11:62462124 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.897C>T (p.Ala299=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002216284] |
Chr11:62691388 [GRCh38]
Chr11:62458860 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1119G>A (p.Glu373=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002212303] |
Chr11:62690821 [GRCh38]
Chr11:62458293 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.786G>A (p.Ala262=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002116290] |
Chr11:62692453 [GRCh38]
Chr11:62459925 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1235-4C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002091409] |
Chr11:62690525 [GRCh38]
Chr11:62457997 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.863+10del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV002076635] |
Chr11:62692366 [GRCh38]
Chr11:62459838 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1153+16C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002145254] |
Chr11:62690771 [GRCh38]
Chr11:62458243 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1005+18C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002078572] |
Chr11:62691262 [GRCh38]
Chr11:62458734 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.631-6C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002131746]|Inborn genetic diseases [RCV002331806] |
Chr11:62692803 [GRCh38]
Chr11:62460275 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.766-10C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002078018] |
Chr11:62692483 [GRCh38]
Chr11:62459955 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1368C>T (p.Arg456=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002101608] |
Chr11:62690388 [GRCh38]
Chr11:62457860 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1242C>G (p.Gly414=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002154039] |
Chr11:62690514 [GRCh38]
Chr11:62457986 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.405-20C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002121235] |
Chr11:62702569 [GRCh38]
Chr11:62470041 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.864-6C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002083606]|Inborn genetic diseases [RCV002361488] |
Chr11:62691427 [GRCh38]
Chr11:62458899 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002139194]|Congenital generalized lipodystrophy type 2 [RCV002494465]|not provided [RCV003395413] |
Chr11:62691352 [GRCh38]
Chr11:62458824 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1235-17T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002101280] |
Chr11:62690538 [GRCh38]
Chr11:62458010 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.405-21TCC[2] |
microsatellite |
Charcot-Marie-Tooth disease type 2 [RCV002121632]|Congenital generalized lipodystrophy type 2 [RCV002500230] |
Chr11:62702562..62702564 [GRCh38]
Chr11:62470034..62470036 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1073-14C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002183208] |
Chr11:62690881 [GRCh38]
Chr11:62458353 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.927C>T (p.Phe309=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002138219] |
Chr11:62691358 [GRCh38]
Chr11:62458830 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1234+11T>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002120869] |
Chr11:62690601 [GRCh38]
Chr11:62458073 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NC_000011.9:g.(?_58916346)_(64972349_?)dup |
duplication |
Leukocyte adhesion deficiency 3 [RCV003113394]|not provided [RCV003113393] |
Chr11:58916346..64972349 [GRCh37]
Chr11:11q12.1-13.1 |
uncertain significance|no classifications from unflagged records |
| NM_001122955.4(BSCL2):c.547G>A (p.Val183Met) |
single nucleotide variant |
not provided [RCV003120318] |
Chr11:62694651 [GRCh38]
Chr11:62462123 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NC_000011.9:g.(?_62457839)_(62462203_?)del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV003122890] |
Chr11:62457839..62462203 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.634A>G (p.Met212Val) |
single nucleotide variant |
not provided [RCV002285941] |
Chr11:62692794 [GRCh38]
Chr11:62460266 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.78C>G (p.Asp26Glu) |
single nucleotide variant |
BSCL2-related disorder [RCV004754872]|not provided [RCV002272090] |
Chr11:62707118 [GRCh38]
Chr11:62474590 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV002266574] |
Chr11:62690446 [GRCh38]
Chr11:62457918 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25 |
pathogenic |
| NM_001122955.4(BSCL2):c.1376G>C (p.Cys459Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002332952]|not provided [RCV002274568] |
Chr11:62690380 [GRCh38]
Chr11:62457852 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.773C>G (p.Pro258Arg) |
single nucleotide variant |
not provided [RCV002286896] |
Chr11:62692466 [GRCh38]
Chr11:62459938 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.769G>C (p.Val257Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003382874]|not provided [RCV002261920] |
Chr11:62692470 [GRCh38]
Chr11:62459942 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.935T>C (p.Val312Ala) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 5C [RCV002290269] |
Chr11:62691350 [GRCh38]
Chr11:62458822 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.259C>T (p.Arg87Cys) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 5C [RCV002290383] |
Chr11:62705446 [GRCh38]
Chr11:62472918 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.88-673T>C |
single nucleotide variant |
not provided [RCV002292113] |
Chr11:62706290 [GRCh38]
Chr11:62473762 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_001122955.4(BSCL2):c.905G>A (p.Gly302Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002367493] |
Chr11:62691380 [GRCh38]
Chr11:62458852 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.512G>T (p.Arg171Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003095911]|not provided [RCV002261921] |
Chr11:62694686 [GRCh38]
Chr11:62462158 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.868C>G (p.Leu290Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002369301] |
Chr11:62691417 [GRCh38]
Chr11:62458889 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1076dup (p.Pro359_Glu360insTer) |
duplication |
Severe neurodegenerative syndrome with lipodystrophy [RCV002465429] |
Chr11:62690863..62690864 [GRCh38]
Chr11:62458335..62458336 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.938T>C (p.Ile313Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005098466]|not provided [RCV002474074] |
Chr11:62691347 [GRCh38]
Chr11:62458819 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.338A>G (p.Tyr113Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002396894] |
Chr11:62705367 [GRCh38]
Chr11:62472839 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.580A>G (p.Ile194Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002357382] |
Chr11:62694618 [GRCh38]
Chr11:62462090 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.204C>G (p.Asp68Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002380781] |
Chr11:62705501 [GRCh38]
Chr11:62472973 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.497A>G (p.Tyr166Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005098407]|Inborn genetic diseases [RCV002444179] |
Chr11:62694701 [GRCh38]
Chr11:62462173 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.265C>T (p.Arg89Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003776384]|Inborn genetic diseases [RCV002380514] |
Chr11:62705440 [GRCh38]
Chr11:62472912 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1315G>A (p.Val439Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002442278] |
Chr11:62690441 [GRCh38]
Chr11:62457913 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1097C>T (p.Thr366Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002449948] |
Chr11:62690843 [GRCh38]
Chr11:62458315 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.908T>C (p.Val303Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003103367]|Inborn genetic diseases [RCV002378397] |
Chr11:62691377 [GRCh38]
Chr11:62458849 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.559T>G (p.Leu187Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002303150] |
Chr11:62694639 [GRCh38]
Chr11:62462111 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1154-20C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002816240] |
Chr11:62690712 [GRCh38]
Chr11:62458184 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.487-1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002681753] |
Chr11:62694712 [GRCh38]
Chr11:62462184 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.1083C>T (p.Gly361=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003013858] |
Chr11:62690857 [GRCh38]
Chr11:62458329 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.666G>A (p.Met222Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003017757] |
Chr11:62692762 [GRCh38]
Chr11:62460234 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.863+14T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002863699] |
Chr11:62692362 [GRCh38]
Chr11:62459834 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.630+4A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002686041] |
Chr11:62694564 [GRCh38]
Chr11:62462036 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1024G>C (p.Asp342His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002904892] |
Chr11:62691123 [GRCh38]
Chr11:62458595 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1279C>T (p.Leu427=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002967731] |
Chr11:62690477 [GRCh38]
Chr11:62457949 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1072+3A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002995256] |
Chr11:62691072 [GRCh38]
Chr11:62458544 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.887T>C (p.Met296Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002620478] |
Chr11:62691398 [GRCh38]
Chr11:62458870 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.250T>G (p.Leu84Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002785824] |
Chr11:62705455 [GRCh38]
Chr11:62472927 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1220C>T (p.Pro407Leu) |
single nucleotide variant |
BSCL2-related disorder [RCV004754913]|Charcot-Marie-Tooth disease type 2 [RCV003001945]|Inborn genetic diseases [RCV003001946] |
Chr11:62690626 [GRCh38]
Chr11:62458098 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.864-9del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV002914428] |
Chr11:62691430 [GRCh38]
Chr11:62458902 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.511C>T (p.Arg171Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002640650]|not specified [RCV005239695] |
Chr11:62694687 [GRCh38]
Chr11:62462159 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1073-16C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003039492] |
Chr11:62690883 [GRCh38]
Chr11:62458355 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002640506]|Inborn genetic diseases [RCV004963520] |
Chr11:62690797 [GRCh38]
Chr11:62458269 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.404+11C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002621138] |
Chr11:62705290 [GRCh38]
Chr11:62472762 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.371_374dup (p.His126fs) |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV002846756] |
Chr11:62705330..62705331 [GRCh38]
Chr11:62472802..62472803 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.528T>G (p.Leu176=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003019215] |
Chr11:62694670 [GRCh38]
Chr11:62462142 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1025A>C (p.Asp342Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002639889]|Inborn genetic diseases [RCV004966026] |
Chr11:62691122 [GRCh38]
Chr11:62458594 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.404+11C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002923591] |
Chr11:62705290 [GRCh38]
Chr11:62472762 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.571T>C (p.Leu191=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002821034] |
Chr11:62694627 [GRCh38]
Chr11:62462099 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1152A>G (p.Thr384=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002848050] |
Chr11:62690788 [GRCh38]
Chr11:62458260 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.350A>G (p.Tyr117Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002735429]|Congenital generalized lipodystrophy type 2 [RCV005050631] |
Chr11:62705355 [GRCh38]
Chr11:62472827 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.329T>G (p.Val110Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002735430]|Congenital generalized lipodystrophy type 2 [RCV005050632] |
Chr11:62705376 [GRCh38]
Chr11:62472848 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1089G>A (p.Glu363=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002659699] |
Chr11:62690851 [GRCh38]
Chr11:62458323 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.631-5G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003038776] |
Chr11:62692802 [GRCh38]
Chr11:62460274 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012202.5(GNG3):c.145G>A (p.Ala49Thr) |
single nucleotide variant |
not specified [RCV004243874] |
Chr11:62708723 [GRCh38]
Chr11:62476195 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.790_792del (p.Ile264del) |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV002894061] |
Chr11:62692447..62692449 [GRCh38]
Chr11:62459919..62459921 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1006-20C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003041236] |
Chr11:62691161 [GRCh38]
Chr11:62458633 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.630G>T (p.Ser210=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002572742]|not provided [RCV004999780] |
Chr11:62694568 [GRCh38]
Chr11:62462040 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.404+14_404+16del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV002890629] |
Chr11:62705285..62705287 [GRCh38]
Chr11:62472757..62472759 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.633G>A (p.Val211=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002643545] |
Chr11:62692795 [GRCh38]
Chr11:62460267 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1341A>G (p.Glu447=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002853175] |
Chr11:62690415 [GRCh38]
Chr11:62457887 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1005+15G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003041581] |
Chr11:62691265 [GRCh38]
Chr11:62458737 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1051A>C (p.Arg351=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002575702] |
Chr11:62691096 [GRCh38]
Chr11:62458568 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1168G>C (p.Glu390Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003060006] |
Chr11:62690678 [GRCh38]
Chr11:62458150 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1234+19C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002600557] |
Chr11:62690593 [GRCh38]
Chr11:62458065 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.260G>A (p.Arg87His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002922560]|Congenital generalized lipodystrophy type 2 [RCV005050660] |
Chr11:62705445 [GRCh38]
Chr11:62472917 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1314T>C (p.Pro438=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002770707] |
Chr11:62690442 [GRCh38]
Chr11:62457914 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1073-16del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV002579208] |
Chr11:62690883 [GRCh38]
Chr11:62458355 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.205C>T (p.Pro69Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002746322] |
Chr11:62705500 [GRCh38]
Chr11:62472972 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.873A>T (p.Leu291=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002597596] |
Chr11:62691412 [GRCh38]
Chr11:62458884 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.567_568insGGCATGGACCCCAGTAACACCACCTAAATAGCAGCCCTAATCATCGCCAATTCTTCTCGTTCGGGAGGTGAGGTTGTCGACTGCAGAGAGTCGATCACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyMetAspProSerAsnThrThrTer) |
insertion |
Charcot-Marie-Tooth disease type 2 [RCV003048498] |
Chr11:62694630..62694631 [GRCh38]
Chr11:62462102..62462103 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.1153+12C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002632576] |
Chr11:62690775 [GRCh38]
Chr11:62458247 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.652G>C (p.Asp218His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002791675] |
Chr11:62692776 [GRCh38]
Chr11:62460248 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1087GAG[1] (p.Glu364del) |
microsatellite |
Charcot-Marie-Tooth disease type 2 [RCV002604900] |
Chr11:62690848..62690850 [GRCh38]
Chr11:62458320..62458322 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.404+16T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002654543] |
Chr11:62705285 [GRCh38]
Chr11:62472757 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1022G>C (p.Arg341Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003071425] |
Chr11:62691125 [GRCh38]
Chr11:62458597 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.487-19T>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002607947] |
Chr11:62694730 [GRCh38]
Chr11:62462202 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1072+16G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002609353] |
Chr11:62691059 [GRCh38]
Chr11:62458531 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.932G>A (p.Ser311Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV002942700] |
Chr11:62691353 [GRCh38]
Chr11:62458825 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1153+1G>T |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV004789778] |
Chr11:62690786 [GRCh38]
Chr11:62458258 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.653A>T (p.Asp218Val) |
single nucleotide variant |
not provided [RCV004777398] |
Chr11:62692775 [GRCh38]
Chr11:62460247 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003225675] |
Chr11:62702508 [GRCh38]
Chr11:62469980 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.937A>G (p.Ile313Val) |
single nucleotide variant |
not provided [RCV003143830] |
Chr11:62691348 [GRCh38]
Chr11:62458820 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.430T>C (p.Ser144Pro) |
single nucleotide variant |
not provided [RCV003143831] |
Chr11:62702524 [GRCh38]
Chr11:62469996 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1043T>A (p.Val348Asp) |
single nucleotide variant |
not provided [RCV003143829] |
Chr11:62691104 [GRCh38]
Chr11:62458576 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.943C>T (p.Leu315Phe) |
single nucleotide variant |
not provided [RCV003332681] |
Chr11:62691342 [GRCh38]
Chr11:62458814 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.178C>T (p.Pro60Ser) |
single nucleotide variant |
not specified [RCV003331655] |
Chr11:62705527 [GRCh38]
Chr11:62472999 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1270G>C (p.Glu424Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003777547]|Inborn genetic diseases [RCV003350566] |
Chr11:62690486 [GRCh38]
Chr11:62457958 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1005+14A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003873552] |
Chr11:62691266 [GRCh38]
Chr11:62458738 [GRCh37]
Chr11:11q12.3 |
likely benign |
| 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_001122955.4(BSCL2):c.829T>C (p.Tyr277His) |
single nucleotide variant |
BSCL2-related disorder [RCV003400114]|Charcot-Marie-Tooth disease type 2 [RCV003745596]|Congenital generalized lipodystrophy type 2 [RCV005051297]|not provided [RCV004765829]|not specified [RCV005240763] |
Chr11:62692410 [GRCh38]
Chr11:62459882 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.744C>T (p.Tyr248=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005100015]|not provided [RCV003395880] |
Chr11:62692684 [GRCh38]
Chr11:62460156 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.103G>T (p.Ala35Ser) |
single nucleotide variant |
not provided [RCV003395882] |
Chr11:62705602 [GRCh38]
Chr11:62473074 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.351C>T (p.Tyr117=) |
single nucleotide variant |
not provided [RCV003395881] |
Chr11:62705354 [GRCh38]
Chr11:62472826 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1234+4A>C |
single nucleotide variant |
not provided [RCV003443698] |
Chr11:62690608 [GRCh38]
Chr11:62458080 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.968G>A (p.Trp323Ter) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV004786940]|not provided [RCV003395879] |
Chr11:62691317 [GRCh38]
Chr11:62458789 [GRCh37]
Chr11:11q12.3 |
likely pathogenic|uncertain significance |
| NM_001122955.4(BSCL2):c.816G>A (p.Gln272=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003824852] |
Chr11:62692423 [GRCh38]
Chr11:62459895 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.591C>A (p.Tyr197Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003581939]|not provided [RCV004573134] |
Chr11:62694607 [GRCh38]
Chr11:62462079 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.1230T>C (p.Ser410=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003745187] |
Chr11:62690616 [GRCh38]
Chr11:62458088 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.440C>T (p.Ser147Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003745288] |
Chr11:62702514 [GRCh38]
Chr11:62469986 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.630+3_630+6del |
deletion |
Congenital generalized lipodystrophy type 2 [RCV004798117] |
Chr11:62694562..62694565 [GRCh38]
Chr11:62462034..62462037 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1233T>C (p.Asp411=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003745619] |
Chr11:62690613 [GRCh38]
Chr11:62458085 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.675A>G (p.Thr225=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003583042] |
Chr11:62692753 [GRCh38]
Chr11:62460225 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1024_1025del (p.Asp342fs) |
microsatellite |
Charcot-Marie-Tooth disease type 2 [RCV003743517] |
Chr11:62691122..62691123 [GRCh38]
Chr11:62458594..62458595 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.1153G>C (p.Glu385Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003582038] |
Chr11:62690787 [GRCh38]
Chr11:62458259 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.396C>G (p.Phe132Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003811699] |
Chr11:62705309 [GRCh38]
Chr11:62472781 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.864-16C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003744121] |
Chr11:62691437 [GRCh38]
Chr11:62458909 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1005+11_1005+16del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV003744129] |
Chr11:62691264..62691269 [GRCh38]
Chr11:62458736..62458741 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1006-2A>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003744196] |
Chr11:62691143 [GRCh38]
Chr11:62458615 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.630+15C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003582343] |
Chr11:62694553 [GRCh38]
Chr11:62462025 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.909T>G (p.Val303=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003582498] |
Chr11:62691376 [GRCh38]
Chr11:62458848 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.193A>G (p.Met65Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003581186] |
Chr11:62705512 [GRCh38]
Chr11:62472984 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.404+17A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003582529] |
Chr11:62705284 [GRCh38]
Chr11:62472756 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.567_568insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) |
insertion |
Charcot-Marie-Tooth disease type 2 [RCV003582731] |
Chr11:62694630..62694631 [GRCh38]
Chr11:62462102..62462103 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.748G>A (p.Asp250Asn) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003582211] |
Chr11:62692680 [GRCh38]
Chr11:62460152 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.747A>G (p.Ala249=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003581499] |
Chr11:62692681 [GRCh38]
Chr11:62460153 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1295C>T (p.Pro432Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003743266] |
Chr11:62690461 [GRCh38]
Chr11:62457933 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.376C>T (p.His126Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003581114] |
Chr11:62705329 [GRCh38]
Chr11:62472801 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.928C>T (p.Leu310Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003583083] |
Chr11:62691357 [GRCh38]
Chr11:62458829 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1288C>A (p.Pro430Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003745680] |
Chr11:62690468 [GRCh38]
Chr11:62457940 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1005+16G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003744458] |
Chr11:62691264 [GRCh38]
Chr11:62458736 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.555A>T (p.Gln185His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003839834] |
Chr11:62694643 [GRCh38]
Chr11:62462115 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1371C>A (p.Pro457=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003744538] |
Chr11:62690385 [GRCh38]
Chr11:62457857 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.357C>T (p.Ser119=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003745037] |
Chr11:62705348 [GRCh38]
Chr11:62472820 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1235-2_1235-1insCCAA |
insertion |
Charcot-Marie-Tooth disease type 2 [RCV003582741] |
Chr11:62690522..62690523 [GRCh38]
Chr11:62457994..62457995 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.487-4G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003744503] |
Chr11:62694715 [GRCh38]
Chr11:62462187 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1005+19C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003582194] |
Chr11:62691261 [GRCh38]
Chr11:62458733 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1239A>G (p.Ser413=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003582789] |
Chr11:62690517 [GRCh38]
Chr11:62457989 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1090_1091inv (p.Glu364Ser) |
inversion |
Charcot-Marie-Tooth disease type 2 [RCV003582916] |
Chr11:62690849..62690850 [GRCh38]
Chr11:62458321..62458322 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.549G>A (p.Val183=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003743477] |
Chr11:62694649 [GRCh38]
Chr11:62462121 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1063C>T (p.His355Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003581187] |
Chr11:62691084 [GRCh38]
Chr11:62458556 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.509A>T (p.Tyr170Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003581213] |
Chr11:62694689 [GRCh38]
Chr11:62462161 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.925T>A (p.Phe309Ile) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003581316] |
Chr11:62691360 [GRCh38]
Chr11:62458832 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1110T>C (p.Asp370=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003582301] |
Chr11:62690830 [GRCh38]
Chr11:62458302 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.830A>C (p.Tyr277Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003581506] |
Chr11:62692409 [GRCh38]
Chr11:62459881 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.711A>C (p.Ala237=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003582366] |
Chr11:62692717 [GRCh38]
Chr11:62460189 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.765+7G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003743405] |
Chr11:62692656 [GRCh38]
Chr11:62460128 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.684C>T (p.Phe228=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003743462] |
Chr11:62692744 [GRCh38]
Chr11:62460216 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1073-16C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003743457] |
Chr11:62690883 [GRCh38]
Chr11:62458355 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1150A>G (p.Thr384Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003744107] |
Chr11:62690790 [GRCh38]
Chr11:62458262 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.405-16del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV003745262] |
Chr11:62702565 [GRCh38]
Chr11:62470037 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.921C>A (p.Phe307Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003581312]|Congenital generalized lipodystrophy type 2 [RCV005051333] |
Chr11:62691364 [GRCh38]
Chr11:62458836 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1291G>C (p.Ala431Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003853449] |
Chr11:62690465 [GRCh38]
Chr11:62457937 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 |
copy number gain |
not specified [RCV003986918] |
Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.445C>A (p.Pro149Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003745959] |
Chr11:62702509 [GRCh38]
Chr11:62469981 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.836G>A (p.Arg279His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV003818715]|Congenital generalized lipodystrophy type 2 [RCV005051387] |
Chr11:62692403 [GRCh38]
Chr11:62459875 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| 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_001122955.4(BSCL2):c.1073G>A (p.Gly358Glu) |
single nucleotide variant |
not provided [RCV003993350] |
Chr11:62690867 [GRCh38]
Chr11:62458339 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.782G>A (p.Gly261Glu) |
single nucleotide variant |
not provided [RCV004547101] |
Chr11:62692457 [GRCh38]
Chr11:62459929 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.195G>A (p.Met65Ile) |
single nucleotide variant |
not provided [RCV004547102] |
Chr11:62705510 [GRCh38]
Chr11:62472982 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NC_000011.9:g.(?_62439218)_(62470041_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV004580280] |
Chr11:62439218..62470041 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NC_000011.9:g.(?_62457839)_(62460289_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV004580281] |
Chr11:62457839..62460289 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NC_000011.9:g.(?_62457839)_(62472984_?)del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV004580279] |
Chr11:62457839..62472984 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.825dup (p.Ala276fs) |
duplication |
Congenital generalized lipodystrophy type 2 [RCV005051491]|Lipodystrophy [RCV004799012] |
Chr11:62692413..62692414 [GRCh38]
Chr11:62459885..62459886 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.86A>G (p.Glu29Gly) |
single nucleotide variant |
not provided [RCV004764178] |
|
uncertain significance |
| NM_001122955.4(BSCL2):c.769G>A (p.Val257Met) |
single nucleotide variant |
not provided [RCV004771243] |
Chr11:62692470 [GRCh38]
Chr11:62459942 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1379C>T (p.Ser460Phe) |
single nucleotide variant |
not provided [RCV004773724] |
Chr11:62690377 [GRCh38]
Chr11:62457849 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.187C>T (p.Pro63Ser) |
single nucleotide variant |
not provided [RCV004773944] |
Chr11:62705518 [GRCh38]
Chr11:62472990 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.478C>G (p.Arg160Gly) |
single nucleotide variant |
not provided [RCV004762295] |
|
uncertain significance |
| NM_001122955.4(BSCL2):c.542C>A (p.Ser181Tyr) |
single nucleotide variant |
not provided [RCV004761111] |
|
uncertain significance |
| NM_001122955.4(BSCL2):c.58G>C (p.Asp20His) |
single nucleotide variant |
not provided [RCV004726112] |
Chr11:62707138 [GRCh38]
Chr11:62474610 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1214T>A (p.Leu405Gln) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050863] |
Chr11:62690632 [GRCh38]
Chr11:62458104 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.864A>G (p.Arg288=) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050871] |
Chr11:62691421 [GRCh38]
Chr11:62458893 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1271del (p.Glu424fs) |
deletion |
Congenital generalized lipodystrophy type 2 [RCV005050862] |
Chr11:62690485 [GRCh38]
Chr11:62457957 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1048C>T (p.Arg350Ter) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050867] |
Chr11:62691099 [GRCh38]
Chr11:62458571 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.843C>G (p.His281Gln) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050873] |
Chr11:62692396 [GRCh38]
Chr11:62459868 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.270_271delinsTT (p.Arg90Ser) |
indel |
Congenital generalized lipodystrophy type 2 [RCV005050882] |
Chr11:62705434..62705435 [GRCh38]
Chr11:62472906..62472907 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.356C>G (p.Ser119Cys) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050881] |
Chr11:62705349 [GRCh38]
Chr11:62472821 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1180C>A (p.Pro394Thr) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050865] |
Chr11:62690666 [GRCh38]
Chr11:62458138 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.974G>T (p.Gly325Val) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050868] |
Chr11:62691311 [GRCh38]
Chr11:62458783 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.894C>T (p.Cys298=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005105378]|Congenital generalized lipodystrophy type 2 [RCV005050869] |
Chr11:62691391 [GRCh38]
Chr11:62458863 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_001122955.4(BSCL2):c.856G>A (p.Gly286Arg) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050872] |
Chr11:62692383 [GRCh38]
Chr11:62459855 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.617C>T (p.Thr206Ile) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050878] |
Chr11:62694581 [GRCh38]
Chr11:62462053 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.224T>C (p.Leu75Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005105379]|Congenital generalized lipodystrophy type 2 [RCV005050884] |
Chr11:62705481 [GRCh38]
Chr11:62472953 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1108G>C (p.Asp370His) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050866] |
Chr11:62690832 [GRCh38]
Chr11:62458304 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.766-1G>A |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050876] |
Chr11:62692474 [GRCh38]
Chr11:62459946 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.646C>T (p.Arg216Cys) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050877] |
Chr11:62692782 [GRCh38]
Chr11:62460254 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.512_519del (p.Arg171fs) |
deletion |
Congenital generalized lipodystrophy type 2 [RCV005050879] |
Chr11:62694679..62694686 [GRCh38]
Chr11:62462151..62462158 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_001122955.4(BSCL2):c.500G>A (p.Gly167Glu) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050880] |
Chr11:62694698 [GRCh38]
Chr11:62462170 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1345G>C (p.Ala449Pro) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050861] |
Chr11:62690411 [GRCh38]
Chr11:62457883 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1192C>G (p.Pro398Ala) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050864] |
Chr11:62690654 [GRCh38]
Chr11:62458126 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.779C>G (p.Thr260Ser) |
single nucleotide variant |
Congenital generalized lipodystrophy type 2 [RCV005050875] |
Chr11:62692460 [GRCh38]
Chr11:62459932 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.-1_1inv (p.Met1Leu) |
inversion |
Congenital generalized lipodystrophy type 2 [RCV005050885] |
Chr11:62707195..62707196 [GRCh38]
Chr11:62474667..62474668 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1051A>G (p.Arg351Gly) |
single nucleotide variant |
not provided [RCV004823783] |
Chr11:62691096 [GRCh38]
Chr11:62458568 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1005G>C (p.Gln335His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005067253] |
Chr11:62691280 [GRCh38]
Chr11:62458752 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1161G>C (p.Gln387His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005067776] |
Chr11:62690685 [GRCh38]
Chr11:62458157 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.405-19C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005105424]|not specified [RCV005088493] |
Chr11:62702568 [GRCh38]
Chr11:62470040 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.984C>G (p.Pro328=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005088095] |
Chr11:62691301 [GRCh38]
Chr11:62458773 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1154-13C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005088899] |
Chr11:62690705 [GRCh38]
Chr11:62458177 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.400T>C (p.Tyr134His) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005172116] |
Chr11:62705305 [GRCh38]
Chr11:62472777 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1154-14C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005173539] |
Chr11:62690706 [GRCh38]
Chr11:62458178 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1345G>A (p.Ala449Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005175047] |
Chr11:62690411 [GRCh38]
Chr11:62457883 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.294C>T (p.Leu98=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005060519] |
Chr11:62705411 [GRCh38]
Chr11:62472883 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.618T>C (p.Thr206=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005105705] |
Chr11:62694580 [GRCh38]
Chr11:62462052 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.529G>C (p.Glu177Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005170429] |
Chr11:62694669 [GRCh38]
Chr11:62462141 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.214C>A (p.Pro72Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005136844] |
Chr11:62705491 [GRCh38]
Chr11:62472963 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1222G>C (p.Glu408Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005207913] |
Chr11:62690624 [GRCh38]
Chr11:62458096 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.206C>T (p.Pro69Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005117147] |
Chr11:62705499 [GRCh38]
Chr11:62472971 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.553C>T (p.Gln185Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005127854] |
Chr11:62694645 [GRCh38]
Chr11:62462117 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.940G>C (p.Val314Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005124996] |
Chr11:62691345 [GRCh38]
Chr11:62458817 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.790A>G (p.Ile264Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005116961] |
Chr11:62692449 [GRCh38]
Chr11:62459921 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.354T>C (p.Tyr118=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005129901] |
Chr11:62705351 [GRCh38]
Chr11:62472823 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1005+3C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005187426] |
Chr11:62691277 [GRCh38]
Chr11:62458749 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.802A>G (p.Ser268Gly) |
single nucleotide variant |
not provided [RCV005250956] |
Chr11:62692437 [GRCh38]
Chr11:62459909 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.986G>T (p.Arg329Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005189195] |
Chr11:62691299 [GRCh38]
Chr11:62458771 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1014C>T (p.Ile338=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005197828] |
Chr11:62691133 [GRCh38]
Chr11:62458605 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.928C>G (p.Leu310Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005168204] |
Chr11:62691357 [GRCh38]
Chr11:62458829 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1089G>C (p.Glu363Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005116661] |
Chr11:62690851 [GRCh38]
Chr11:62458323 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.456T>C (p.Asn152=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005113126] |
Chr11:62702498 [GRCh38]
Chr11:62469970 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.864-13C>A |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005141900] |
Chr11:62691434 [GRCh38]
Chr11:62458906 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.813C>T (p.Ile271=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005205379] |
Chr11:62692426 [GRCh38]
Chr11:62459898 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.290T>C (p.Val97Ala) |
single nucleotide variant |
not provided [RCV005242026] |
Chr11:62705415 [GRCh38]
Chr11:62472887 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.963G>A (p.Trp321Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005137601] |
Chr11:62691322 [GRCh38]
Chr11:62458794 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_001122955.4(BSCL2):c.633G>T (p.Val211=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005169727] |
Chr11:62692795 [GRCh38]
Chr11:62460267 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.631-13C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005148567] |
Chr11:62692810 [GRCh38]
Chr11:62460282 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.946T>C (p.Phe316Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005134553] |
Chr11:62691339 [GRCh38]
Chr11:62458811 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.759G>A (p.Glu253=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005197823] |
Chr11:62692669 [GRCh38]
Chr11:62460141 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.897C>G (p.Ala299=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005161886] |
Chr11:62691388 [GRCh38]
Chr11:62458860 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.635T>C (p.Met212Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005191059] |
Chr11:62692793 [GRCh38]
Chr11:62460265 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1180C>G (p.Pro394Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005191999] |
Chr11:62690666 [GRCh38]
Chr11:62458138 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.983C>T (p.Pro328Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005137896] |
Chr11:62691302 [GRCh38]
Chr11:62458774 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.837C>T (p.Arg279=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005193073] |
Chr11:62692402 [GRCh38]
Chr11:62459874 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.631-14C>T |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005205197] |
Chr11:62692811 [GRCh38]
Chr11:62460283 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.819G>A (p.Leu273=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005187503] |
Chr11:62692420 [GRCh38]
Chr11:62459892 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.270G>A (p.Arg90=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005201387] |
Chr11:62705435 [GRCh38]
Chr11:62472907 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1297G>A (p.Ala433Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005128904] |
Chr11:62690459 [GRCh38]
Chr11:62457931 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1294C>T (p.Pro432Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005159205] |
Chr11:62690462 [GRCh38]
Chr11:62457934 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.873A>G (p.Leu291=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005159116] |
Chr11:62691412 [GRCh38]
Chr11:62458884 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1335_1340delinsGTTCAG (p.Ser445_Glu447delinsArgPheArg) |
indel |
Charcot-Marie-Tooth disease type 2 [RCV005115501] |
Chr11:62690416..62690421 [GRCh38]
Chr11:62457888..62457893 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.735G>A (p.Val245=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005068698] |
Chr11:62692693 [GRCh38]
Chr11:62460165 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1072G>C (p.Gly358Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005199858] |
Chr11:62691075 [GRCh38]
Chr11:62458547 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.219C>G (p.Ala73=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005074464] |
Chr11:62705486 [GRCh38]
Chr11:62472958 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.1343C>T (p.Pro448Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005153558] |
Chr11:62690413 [GRCh38]
Chr11:62457885 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_001122955.4(BSCL2):c.1014C>A (p.Ile338=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005070188] |
Chr11:62691133 [GRCh38]
Chr11:62458605 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.276G>A (p.Leu92=) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005107349] |
Chr11:62705429 [GRCh38]
Chr11:62472901 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_001122955.4(BSCL2):c.631-9C>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2 [RCV005150232] |
Chr11:62692806 [GRCh38]
Chr11:62460278 [GRCh37]
Chr11:11q12.3 |
likely benign |
