List of variants in gene SMC1A reported as uncertain significance

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 83

Download table as spreadsheet

HGVS	dbSNP
GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x3
GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x4
GRCh38/hg38 Xp11.22(chrX:53397800-53403846)x1
NM_001281463.1(SMC1A):c.195_206del (p.Glu65_Glu68del)	rs1569359505
NM_001281463.1(SMC1A):c.793_795del (p.Lys265del)	rs1556890626
NM_006306.3(SMC1A):c.*1028C>T	rs1057515967
NM_006306.3(SMC1A):c.*1240A>G	rs1057515966
NM_006306.3(SMC1A):c.*14C>T	rs112727682
NM_006306.3(SMC1A):c.*1559G>A	rs782736361
NM_006306.3(SMC1A):c.*1961C>T	rs986586627
NM_006306.3(SMC1A):c.*2050T>C	rs1057515964
NM_006306.3(SMC1A):c.*2225G>A	rs1047323522
NM_006306.3(SMC1A):c.*2435T>G	rs782650092
NM_006306.3(SMC1A):c.*2490T>C	rs1057515962
NM_006306.3(SMC1A):c.*2663C>T	rs1057515961
NM_006306.3(SMC1A):c.*3305A>G	rs1057515960
NM_006306.3(SMC1A):c.*348C>T	rs782700234
NM_006306.3(SMC1A):c.*3671C>T	rs1057515959
NM_006306.3(SMC1A):c.*3777C>G	rs41315082
NM_006306.3(SMC1A):c.*3807G>A	rs1057515958
NM_006306.3(SMC1A):c.*4087G>A	rs1057515957
NM_006306.3(SMC1A):c.*4382A>G	rs906340789
NM_006306.3(SMC1A):c.*4443G>A	rs782630117
NM_006306.3(SMC1A):c.*4581T>C	rs1057515955
NM_006306.3(SMC1A):c.*5352C>T	rs1057515953
NM_006306.3(SMC1A):c.*5355G>A	rs782143840
NM_006306.3(SMC1A):c.*5692G>A	rs1057515952
NM_006306.3(SMC1A):c.*5915T>C	rs1057515951
NM_006306.3(SMC1A):c.*626A>G	rs1057515970
NM_006306.3(SMC1A):c.*665A>G	rs1057515969
NM_006306.3(SMC1A):c.821_824delACAG	rs1057515968
NM_006306.3(SMC1A):c.-1C>T	rs797044618
NM_006306.3(SMC1A):c.1190A>G (p.Asn397Ser)	rs782697006
NM_006306.3(SMC1A):c.1246G>A (p.Glu416Lys)	rs886044873
NM_006306.3(SMC1A):c.1254+11G>C	rs144354524
NM_006306.3(SMC1A):c.1254+4G>A
NM_006306.3(SMC1A):c.1254+5G>A	rs1569358589
NM_006306.3(SMC1A):c.1364T>C (p.Leu455Pro)	rs886044858
NM_006306.3(SMC1A):c.140T>G (p.Phe47Cys)	rs1569359530
NM_006306.3(SMC1A):c.1545+4A>C	rs377270943
NM_006306.3(SMC1A):c.1847C>T (p.Ala616Val)
NM_006306.3(SMC1A):c.1872T>G (p.Asp624Glu)
NM_006306.3(SMC1A):c.1876C>T (p.Arg626Cys)	rs1556889577
NM_006306.3(SMC1A):c.1877G>A (p.Arg626His)	rs587784407
NM_006306.3(SMC1A):c.1996T>C (p.Trp666Arg)	rs1057518859
NM_006306.3(SMC1A):c.2038C>T (p.Arg680Cys)	rs1556889524
NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln)	rs587784408
NM_006306.3(SMC1A):c.227A>G (p.Asn76Ser)
NM_006306.3(SMC1A):c.2350A>G (p.Ile784Val)	rs587784411
NM_006306.3(SMC1A):c.2420+5G>A	rs1556889217
NM_006306.3(SMC1A):c.2446C>T (p.Arg816Cys)	rs1556888586
NM_006306.3(SMC1A):c.2708A>G (p.Lys903Arg)	rs1569355072
NM_006306.3(SMC1A):c.2709-4T>A
NM_006306.3(SMC1A):c.2738C>T (p.Thr913Ile)	rs1569355048
NM_006306.3(SMC1A):c.2788C>T (p.Leu930=)	rs781912370
NM_006306.3(SMC1A):c.2792A>G (p.Gln931Arg)
NM_006306.3(SMC1A):c.285C>G (p.Ala95=)	rs587784414
NM_006306.3(SMC1A):c.2950G>A (p.Gly984Ser)	rs782381563
NM_006306.3(SMC1A):c.2977G>T (p.Ala993Ser)
NM_006306.3(SMC1A):c.2981A>G (p.Gln994Arg)	rs781817923
NM_006306.3(SMC1A):c.298G>C (p.Gly100Arg)	rs1569359487
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln)	rs587784416
NM_006306.3(SMC1A):c.3186C>G (p.Ile1062Met)
NM_006306.3(SMC1A):c.3224A>G (p.Glu1075Gly)	rs1556886027
NM_006306.3(SMC1A):c.3235A>G (p.Thr1079Ala)
NM_006306.3(SMC1A):c.3252C>T (p.Ile1084=)	rs587784417
NM_006306.3(SMC1A):c.3290T>A (p.Phe1097Tyr)	rs1131692271
NM_006306.3(SMC1A):c.3306C>G (p.Asn1102Lys)	rs797045994
NM_006306.3(SMC1A):c.3390C>T (p.Gly1130=)
NM_006306.3(SMC1A):c.3497A>G (p.Asn1166Ser)	rs1556885810
NM_006306.3(SMC1A):c.3507+3G>A	rs1556885809
NM_006306.3(SMC1A):c.3592G>C (p.Glu1198Gln)	rs782175064
NM_006306.3(SMC1A):c.3611A>T (p.Tyr1204Phe)
NM_006306.3(SMC1A):c.3618+10G>A	rs782278656
NM_006306.3(SMC1A):c.3618+7C>T	rs782267492
NM_006306.3(SMC1A):c.3638G>A (p.Ser1213Asn)	rs1569351352
NM_006306.3(SMC1A):c.3692A>G (p.Asn1231Ser)
NM_006306.3(SMC1A):c.411+6C>T	rs782515915
NM_006306.3(SMC1A):c.413G>A (p.Gly138Asp)	rs1569359134
NM_006306.3(SMC1A):c.494C>T (p.Ala165Val)
NM_006306.3(SMC1A):c.855-15C>T	rs147791932
NM_006306.3(SMC1A):c.861G>A (p.Lys287=)	rs782543093
NM_006306.3(SMC1A):c.920A>G (p.His307Arg)	rs1556890616

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.