List of variants reported as pathogenic for Congenital muscular hypertrophy-cerebral syndrome by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 65

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln)	rs782176647	0.00002
NC_000023.10:g.(?_53222149)_(55057617_?)del
NC_000023.10:g.(?_53430478)_(53432101_?)del
NC_000023.10:g.(?_53430478)_(53442138_?)del
NC_000023.10:g.(?_53435973)_(53442138_?)del
NC_000023.10:g.(?_53448825)_(53449569_?)del
NC_000023.10:g.(?_53449431)_(53449549_?)del
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer)	rs2146614137
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln)	rs587784403
NM_006306.4(SMC1A):c.1299del (p.Lys433fs)	rs1602411858
NM_006306.4(SMC1A):c.1335C>T (p.Ser445=)
NM_006306.4(SMC1A):c.1447del (p.Gln483fs)
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)	rs122454123
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter)	rs1556890135
NM_006306.4(SMC1A):c.1607A>G (p.Lys536Arg)	rs2146600076
NM_006306.4(SMC1A):c.1717del (p.Asp574fs)
NM_006306.4(SMC1A):c.1927G>T (p.Gly643Ter)
NM_006306.4(SMC1A):c.1989_1995del (p.Arg664fs)
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln)	rs587784408
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)	rs587784409
NM_006306.4(SMC1A):c.2132_2139del (p.Arg711fs)	rs2146599324
NM_006306.4(SMC1A):c.2146C>T (p.Gln716Ter)
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter)	rs2075685944
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter)	rs2146599304
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter)	rs1556889269
NM_006306.4(SMC1A):c.2343T>A (p.Cys781Ter)
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)	rs587784412
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln)	rs797045993
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter)	rs2146598241
NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter)	rs2146595540
NM_006306.4(SMC1A):c.2514G>A (p.Trp838Ter)
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer)	rs2146593421
NM_006306.4(SMC1A):c.286C>T (p.Arg96Cys)	rs2146606642
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs)	rs1602404847
NM_006306.4(SMC1A):c.2890_2893del (p.Ser964fs)
NM_006306.4(SMC1A):c.2899C>T (p.Gln967Ter)	rs2146592415
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter)	rs2146592407
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)	rs1556887759
NM_006306.4(SMC1A):c.302del (p.Gly101fs)	rs2146606566
NM_006306.4(SMC1A):c.3098del (p.Ser1033fs)
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)	rs1556886124
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter)	rs2146582701
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)	rs587784416
NM_006306.4(SMC1A):c.3151C>T (p.Arg1051Ter)	rs1569351907
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys)	rs797044896
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His)	rs1556886034
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs)	rs2075587887
NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter)
NM_006306.4(SMC1A):c.3283C>T (p.Gln1095Ter)
NM_006306.4(SMC1A):c.3367C>T (p.Arg1123Trp)	rs2146582432
NM_006306.4(SMC1A):c.3422T>C (p.Leu1141Pro)
NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter)
NM_006306.4(SMC1A):c.374del (p.Gly125fs)
NM_006306.4(SMC1A):c.392del (p.Arg131fs)	rs2075725850
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val)	rs2075725792
NM_006306.4(SMC1A):c.481del (p.Ser161fs)	rs2146605644
NM_006306.4(SMC1A):c.52C>T (p.Arg18Ter)
NM_006306.4(SMC1A):c.547_548del (p.Gln183fs)	rs2146605568
NM_006306.4(SMC1A):c.586C>G (p.Arg196Gly)	rs587784422
NM_006306.4(SMC1A):c.587G>A (p.Arg196His)	rs1556890815
NM_006306.4(SMC1A):c.628C>T (p.Gln210Ter)	rs2146605443
NM_006306.4(SMC1A):c.733_734del (p.Lys245fs)	rs2146605369
NM_006306.4(SMC1A):c.761del (p.Lys254fs)	rs2146605339
NM_006306.4(SMC1A):c.909G>C (p.Glu303Asp)
NM_006306.4(SMC1A):c.955_956del (p.Leu319fs)

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.