List of variants in gene SMC1A reported as uncertain significance for Congenital muscular hypertrophy-cerebral syndrome

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

Total variants: 128

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HGVS	dbSNP
NC_000023.10:g.(?_53407004)_(53449569_?)dup
NM_001281463.1(SMC1A):c.*1028C>T	rs1057515967
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.*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.*2948G>T	rs183355603
NM_001281463.1(SMC1A):c.*3305A>G	rs1057515960
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.*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.*5197T>C	rs782050365
NM_001281463.1(SMC1A):c.*5352C>T	rs1057515953
NM_001281463.1(SMC1A):c.*5355G>A	rs782143840
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.-213C>T	rs797044618
NM_001281463.1(SMC1A):c.-275G>T
NM_001281463.1(SMC1A):c.1124A>G (p.Asn375Ser)	rs782697006
NM_001281463.1(SMC1A):c.1188+11G>C	rs144354524
NM_001281463.1(SMC1A):c.1188+5G>A	rs1569358589
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly)	rs587784405
NM_001281463.1(SMC1A):c.1479+4A>C	rs377270943
NM_001281463.1(SMC1A):c.161A>G (p.Asn54Ser)	rs200243549
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.2012G>A (p.Arg671Gln)	rs587784408
NM_001281463.1(SMC1A):c.219C>G (p.Ala73=)	rs587784414
NM_001281463.1(SMC1A):c.2284A>G (p.Ile762Val)	rs587784411
NM_001281463.1(SMC1A):c.232G>C (p.Gly78Arg)	rs1569359487
NM_001281463.1(SMC1A):c.2354+5G>A	rs1556889217
NM_001281463.1(SMC1A):c.2380C>T (p.Arg794Cys)	rs1556888586
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.2911G>T (p.Ala971Ser)	rs782127256
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln)	rs587784416
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.3169A>G (p.Thr1057Ala)	rs1602398590
NM_001281463.1(SMC1A):c.3186C>T (p.Ile1062=)	rs587784417
NM_001281463.1(SMC1A):c.3224T>A (p.Phe1075Tyr)	rs1131692271
NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=)	rs374246357
NM_001281463.1(SMC1A):c.3441+3G>A	rs1556885809
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.428C>T (p.Ala143Val)	rs1556890833
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val)	rs1556891104
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.*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.*2936C>T
NM_006306.4(SMC1A):c.*3025C>T
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.*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.-7G>A
NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu)
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.1436A>C (p.Gln479Pro)
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln)
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg)
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
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.2314G>T (p.Val772Leu)
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn)
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.2862+4A>G
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg)
NM_006306.4(SMC1A):c.3131-13T>G
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
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.452G>A (p.Arg151Lys)
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu)
NM_006306.4(SMC1A):c.854+6_854+7del

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