ClinVar Miner

List of variants studied for Congenital muscular hypertrophy-cerebral syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 233
Download table as spreadsheet
HGVS dbSNP
NC_000023.10:g.(?_53276131)_(53449569_?)dup
NC_000023.10:g.(?_53349595)_(53410194_?)dup
NC_000023.10:g.(?_53349615)_(53410174_?)dup
NC_000023.10:g.(?_53407004)_(53449569_?)dup
NC_000023.10:g.(?_53430478)_(53432101_?)del
NC_000023.10:g.(?_53448825)_(53449569_?)del
NM_001281463.1(SMC1A):c.*1028C>T rs1057515967
NM_001281463.1(SMC1A):c.*1239T>C rs782502306
NM_001281463.1(SMC1A):c.*1240A>G rs1057515966
NM_001281463.1(SMC1A):c.*1559G>A rs782736361
NM_001281463.1(SMC1A):c.*1961C>T rs986586627
NM_001281463.1(SMC1A):c.*2050T>C rs1057515964
NM_001281463.1(SMC1A):c.*2225G>A rs1047323522
NM_001281463.1(SMC1A):c.*2423G>A rs147324052
NM_001281463.1(SMC1A):c.*2435T>G rs782650092
NM_001281463.1(SMC1A):c.*2490T>C rs1057515962
NM_001281463.1(SMC1A):c.*2609A>C rs192734396
NM_001281463.1(SMC1A):c.*2663C>T rs1057515961
NM_001281463.1(SMC1A):c.*2856A>T rs148128199
NM_001281463.1(SMC1A):c.*2948G>T rs183355603
NM_001281463.1(SMC1A):c.*3305A>G rs1057515960
NM_001281463.1(SMC1A):c.*3421G>T rs41304780
NM_001281463.1(SMC1A):c.*3671C>T rs1057515959
NM_001281463.1(SMC1A):c.*3777C>G rs41315082
NM_001281463.1(SMC1A):c.*3807G>A rs1057515958
NM_001281463.1(SMC1A):c.*381A>G rs184957599
NM_001281463.1(SMC1A):c.*3851A>T rs782817464
NM_001281463.1(SMC1A):c.*4087G>A rs1057515957
NM_001281463.1(SMC1A):c.*41G>A rs782548345
NM_001281463.1(SMC1A):c.*4382A>G rs906340789
NM_001281463.1(SMC1A):c.*4443G>A rs782630117
NM_001281463.1(SMC1A):c.*4581T>C rs1057515955
NM_001281463.1(SMC1A):c.*5016T>C rs17002602
NM_001281463.1(SMC1A):c.*5197T>C rs782050365
NM_001281463.1(SMC1A):c.*5352C>T rs1057515953
NM_001281463.1(SMC1A):c.*5355G>A rs782143840
NM_001281463.1(SMC1A):c.*5444G>A rs181871602
NM_001281463.1(SMC1A):c.*5481G>A rs147896900
NM_001281463.1(SMC1A):c.*5692G>A rs1057515952
NM_001281463.1(SMC1A):c.*5915T>C rs1057515951
NM_001281463.1(SMC1A):c.*626A>G rs1057515970
NM_001281463.1(SMC1A):c.*665A>G rs1057515969
NM_001281463.1(SMC1A):c.*703G>T rs189126241
NM_001281463.1(SMC1A):c.-118G>A rs1556892359
NM_001281463.1(SMC1A):c.-150C>T rs781999328
NM_001281463.1(SMC1A):c.-213C>T rs797044618
NM_001281463.1(SMC1A):c.-275G>T
NM_001281463.1(SMC1A):c.1032G>A (p.Thr344=) rs140585416
NM_001281463.1(SMC1A):c.1048-2A>G rs1569358628
NM_001281463.1(SMC1A):c.1070_1072AAG[2] (p.Glu359del) rs797045991
NM_001281463.1(SMC1A):c.1107G>A (p.Gln369=) rs147952638
NM_001281463.1(SMC1A):c.1124A>G (p.Asn375Ser) rs782697006
NM_001281463.1(SMC1A):c.1127G>A (p.Arg376Gln) rs587784403
NM_001281463.1(SMC1A):c.1188+11G>C rs144354524
NM_001281463.1(SMC1A):c.1188+5G>A rs1569358589
NM_001281463.1(SMC1A):c.1201C>A (p.Gln401Lys) rs587784404
NM_001281463.1(SMC1A):c.1257C>T (p.Tyr419=) rs144850468
NM_001281463.1(SMC1A):c.1322_1323insC (p.Glu442fs) rs1057519398
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly) rs587784405
NM_001281463.1(SMC1A):c.1412A>C (p.Glu471Ala) rs122454122
NM_001281463.1(SMC1A):c.1421G>A (p.Arg474His) rs122454123
NM_001281463.1(SMC1A):c.1479+4A>C rs377270943
NM_001281463.1(SMC1A):c.161A>G (p.Asn54Ser) rs200243549
NM_001281463.1(SMC1A):c.1632G>A (p.Glu544=) rs7052858
NM_001281463.1(SMC1A):c.1688T>C (p.Leu563Pro) rs587784406
NM_001281463.1(SMC1A):c.1781C>T (p.Ala594Val) rs782196047
NM_001281463.1(SMC1A):c.1806T>G (p.Asp602Glu) rs1369059288
NM_001281463.1(SMC1A):c.1810C>T (p.Arg604Cys) rs1556889577
NM_001281463.1(SMC1A):c.1811G>A (p.Arg604His) rs587784407
NM_001281463.1(SMC1A):c.195_206del (p.Glu65_Glu68del) rs1569359505
NM_001281463.1(SMC1A):c.1969G>T (p.Glu657Ter) rs1569356968
NM_001281463.1(SMC1A):c.1980_1982del (p.Glu662del) rs797045992
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln) rs587784408
NM_001281463.1(SMC1A):c.2065C>T (p.Arg689Trp) rs587784409
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_001281463.1(SMC1A):c.219C>G (p.Ala73=) rs587784414
NM_001281463.1(SMC1A):c.2248-2A>G rs1602409271
NM_001281463.1(SMC1A):c.2261T>A (p.Val754Glu) rs587784410
NM_001281463.1(SMC1A):c.2284A>G (p.Ile762Val) rs587784411
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) rs387906702
NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp) rs587784412
NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln) rs797045993
NM_001281463.1(SMC1A):c.2328dup (p.Arg777fs) rs1569356555
NM_001281463.1(SMC1A):c.232G>C (p.Gly78Arg) rs1569359487
NM_001281463.1(SMC1A):c.2354+5G>A rs1556889217
NM_001281463.1(SMC1A):c.2354G>A (p.Arg785His) rs1569356550
NM_001281463.1(SMC1A):c.2380C>T (p.Arg794Cys) rs1556888586
NM_001281463.1(SMC1A):c.2381G>A (p.Arg794His) rs886044819
NM_001281463.1(SMC1A):c.2481del (p.Ile827fs) rs797045069
NM_001281463.1(SMC1A):c.2642A>G (p.Lys881Arg) rs1569355072
NM_001281463.1(SMC1A):c.2643-4T>A rs1602405648
NM_001281463.1(SMC1A):c.2672C>T (p.Thr891Ile) rs1569355048
NM_001281463.1(SMC1A):c.2726A>G (p.Gln909Arg) rs782728089
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001281463.1(SMC1A):c.2884G>A (p.Gly962Ser) rs782381563
NM_001281463.1(SMC1A):c.2911G>T (p.Ala971Ser) rs782127256
NM_001281463.1(SMC1A):c.2990_3016delinsTGCAG (p.Arg997fs) rs1556886127
NM_001281463.1(SMC1A):c.3004A>T (p.Asn1002Tyr) rs587784415
NM_001281463.1(SMC1A):c.3037C>T (p.Arg1013Ter) rs1556886124
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281463.1(SMC1A):c.3085C>T (p.Arg1029Ter) rs1569351907
NM_001281463.1(SMC1A):c.3112G>A (p.Glu1038Lys) rs1057521921
NM_001281463.1(SMC1A):c.3120C>G (p.Ile1040Met) rs372307204
NM_001281463.1(SMC1A):c.3131G>A (p.Arg1044His) rs1556886034
NM_001281463.1(SMC1A):c.3169A>G (p.Thr1057Ala) rs1602398590
NM_001281463.1(SMC1A):c.3186C>T (p.Ile1062=) rs587784417
NM_001281463.1(SMC1A):c.3188A>G (p.Tyr1063Cys) rs587784418
NM_001281463.1(SMC1A):c.3224T>A (p.Phe1075Tyr) rs1131692271
NM_001281463.1(SMC1A):c.3307A>G (p.Met1103Val) rs1057519499
NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=) rs374246357
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) rs142611198
NM_001281463.1(SMC1A):c.3395T>A (p.Val1132Asp) rs1569351534
NM_001281463.1(SMC1A):c.3441+3G>A rs1556885809
NM_001281463.1(SMC1A):c.346-10C>T rs149219651
NM_001281463.1(SMC1A):c.3491T>C (p.Val1164Ala) rs587784419
NM_001281463.1(SMC1A):c.3525C>T (p.Ala1175=) rs146216425
NM_001281463.1(SMC1A):c.3526G>C (p.Glu1176Gln) rs782175064
NM_001281463.1(SMC1A):c.3545A>T (p.Tyr1182Phe) rs781998306
NM_001281463.1(SMC1A):c.3552+7C>T rs782267492
NM_001281463.1(SMC1A):c.355G>A (p.Glu119Lys) rs587784420
NM_001281463.1(SMC1A):c.3586_3597del (p.Phe1196_Thr1199del) rs1569351341
NM_001281463.1(SMC1A):c.3597C>T (p.Thr1199=) rs28997583
NM_001281463.1(SMC1A):c.428C>T (p.Ala143Val) rs1556890833
NM_001281463.1(SMC1A):c.44G>T (p.Gly15Val) rs1569359540
NM_001281463.1(SMC1A):c.481C>T (p.Gln161Ter) rs587784421
NM_001281463.1(SMC1A):c.50C>G (p.Ser17Ter) rs1057518670
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001281463.1(SMC1A):c.521G>A (p.Arg174His) rs1556890815
NM_001281463.1(SMC1A):c.550-2A>G rs587784423
NM_001281463.1(SMC1A):c.550-6G>A rs587784424
NM_001281463.1(SMC1A):c.589del (p.Ala197fs) rs1569359048
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val) rs1556891104
NM_001281463.1(SMC1A):c.62A>T (p.Asp21Val) rs1569359535
NM_001281463.1(SMC1A):c.633G>A (p.Val211=) rs145319852
NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) rs727503773
NM_001281463.1(SMC1A):c.74T>G (p.Phe25Cys) rs1569359530
NM_001281463.1(SMC1A):c.789-15C>T rs147791932
NM_001281463.1(SMC1A):c.793_795del (p.Lys265del) rs1556890626
NM_001281463.1(SMC1A):c.854A>G (p.His285Arg) rs1556890616
NM_006306.4(SMC1A):c.*1040G>A
NM_006306.4(SMC1A):c.*1542T>C
NM_006306.4(SMC1A):c.*1914A>G
NM_006306.4(SMC1A):c.*1934T>C
NM_006306.4(SMC1A):c.*1967C>T
NM_006306.4(SMC1A):c.*2086T>C
NM_006306.4(SMC1A):c.*2389G>T
NM_006306.4(SMC1A):c.*2936C>T
NM_006306.4(SMC1A):c.*3025C>T
NM_006306.4(SMC1A):c.*3087G>A
NM_006306.4(SMC1A):c.*3392T>C
NM_006306.4(SMC1A):c.*3484G>A
NM_006306.4(SMC1A):c.*3596C>T
NM_006306.4(SMC1A):c.*4156A>G
NM_006306.4(SMC1A):c.*4367T>C
NM_006306.4(SMC1A):c.*4887T>C
NM_006306.4(SMC1A):c.*488A>G
NM_006306.4(SMC1A):c.*4998T>C
NM_006306.4(SMC1A):c.*5051G>T
NM_006306.4(SMC1A):c.*5251G>T
NM_006306.4(SMC1A):c.*5443C>G
NM_006306.4(SMC1A):c.*5451A>G
NM_006306.4(SMC1A):c.*5489G>T
NM_006306.4(SMC1A):c.*5506A>T
NM_006306.4(SMC1A):c.*5722A>T
NM_006306.4(SMC1A):c.*578C>T
NM_006306.4(SMC1A):c.*5853A>G
NM_006306.4(SMC1A):c.*5855G>T
NM_006306.4(SMC1A):c.*5946C>T
NM_006306.4(SMC1A):c.*675A>G
NM_006306.4(SMC1A):c.*931A>G
NM_006306.4(SMC1A):c.-7G>A
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn)
NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln)
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)
NM_006306.4(SMC1A):c.1299del (p.Lys433fs) rs1602411858
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro)
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln)
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg)
NM_006306.4(SMC1A):c.1781_1784TGAT[1] (p.Ile595fs) rs1602410239
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=) rs782665597
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu) rs1602410098
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) rs1556889522
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=)
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val)
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys)
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter)
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu)
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn)
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr)
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu) rs1602407457
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=) rs1602407405
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del)
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter) rs1602405588
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.2862+4A>G
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs) rs1602404847
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter) rs1602398950
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg)
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=) rs202083908
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs)
NM_006306.4(SMC1A):c.3131-13T>G
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=) rs375312256
NM_006306.4(SMC1A):c.3205C>T (p.Arg1069Cys)
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs)
NM_006306.4(SMC1A):c.3286-4C>T rs1556885985
NM_006306.4(SMC1A):c.3438-7C>T rs782796392
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp) rs868961188
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr) rs1556885810
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) rs863225459
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln)
NM_006306.4(SMC1A):c.392G>A (p.Arg131His)
NM_006306.4(SMC1A):c.392del (p.Arg131fs)
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val)
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys)
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)
NM_006306.4(SMC1A):c.579G>A (p.Ala193=) rs199571320
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter) rs1602413582
NM_006306.4(SMC1A):c.615+2T>C rs868985177
NM_006306.4(SMC1A):c.764G>A (p.Arg255His)
NM_006306.4(SMC1A):c.854+6_854+7del
SMC1A, 15-BP DEL, NT173
SMC1A, 8.152-KB DEL

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.