C3150681[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 538814	NC_000015.9:g.(?_35082593)_(35087029_?)dup	ACTC1, GJD2-DT	Duplication	Atrial septal defect 5 +2 more	GUncertain significance
Select item 2934757	NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu)	ACTC1, GJD2-DT	Single nucleotide variant (stop lost)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 1141190	NM_005159.5(ACTC1):c.1131C>T (p.Phe377=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +4 more	GLikely benign
Select item 1508692	NM_005159.5(ACTC1):c.1129T>G (p.Phe377Val)	ACTC1, GJD2-DT (F377V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 920426	NM_005159.5(ACTC1):c.1128C>T (p.Cys376=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 1633977	NM_005159.5(ACTC1):c.1119C>T (p.His373=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +2 more	GLikely benign
Select item 180774	NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr)	ACTC1, GJD2-DT (I371T)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 2924822	NM_005159.5(ACTC1):c.1109C>G (p.Ser370Cys)	ACTC1, GJD2-DT (S370C +2 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 2064160	NM_005159.5(ACTC1):c.1107A>G (p.Pro369=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 1470228	NM_005159.5(ACTC1):c.1100C>G (p.Ala367Gly)	ACTC1, GJD2-DT (A367G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 925920	NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)	GJD2-DT, ACTC1 (A367T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +4 more	GUncertain significance
Select item 377437	NM_005159.5(ACTC1):c.1098G>A (p.Glu366=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 1790532	NM_005159.5(ACTC1):c.1095T>C (p.Asp365=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1511714	NM_005159.5(ACTC1):c.1093G>T (p.Asp365Tyr)	ACTC1, GJD2-DT (D365Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 1171524	NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn)	ACTC1, GJD2-DT (D365N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 45171	NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 452611	NM_005159.5(ACTC1):c.1090T>A (p.Tyr364Asn)	ACTC1, GJD2-DT (Y364N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 18324	NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly)	ACTC1, GJD2-DT (E363G)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 1393320	NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro)	GJD2-DT, ACTC1 (Q362P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 656273	NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu)	ACTC1, GJD2-DT (K361E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2954320	NM_005159.5(ACTC1):c.1079G>A (p.Ser360Asn)	ACTC1, GJD2-DT (S315N +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2044191	NM_005159.5(ACTC1):c.1070T>C (p.Met357Thr)	ACTC1, GJD2-DT (M210T +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 1421370	NM_005159.5(ACTC1):c.1067A>G (p.Gln356Arg)	ACTC1, GJD2-DT (Q356R)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +3 more	GUncertain significance
Select item 2952424	NM_005159.5(ACTC1):c.1063C>T (p.Gln355Ter)	ACTC1, GJD2-DT (Q310* +2 more)	Single nucleotide variant (nonsense)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 1149514	NM_005159.5(ACTC1):c.1056C>T (p.Ser352=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +2 more	GLikely benign
Select item 315702	NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 45170	NM_005159.5(ACTC1):c.1053G>A (p.Leu351=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +4 more	GLikely benign
Select item 1275098	NM_005159.5(ACTC1):c.1050T>A (p.Ser350=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +3 more	GBenign/Likely benign
Select item 1171045	NM_005159.5(ACTC1):c.1044G>A (p.Leu348=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 626825	NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 923704	NM_005159.5(ACTC1):c.1035C>T (p.Gly345=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 2951057	NM_005159.5(ACTC1):c.1034G>C (p.Gly345Ala)	ACTC1, GJD2-DT (G300A +2 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 1057954	NM_005159.5(ACTC1):c.1034del (p.Gly345fs)	ACTC1, GJD2-DT (G345fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 1484670	NM_005159.5(ACTC1):c.1029del (p.Ile343fs)	ACTC1, GJD2-DT (I343fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 925265	NM_005159.5(ACTC1):c.1005T>C (p.Pro335=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +3 more	GLikely benign
Select item 1560390	NM_005159.5(ACTC1):c.999T>C (p.Ala333=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 180773	NM_005159.5(ACTC1):c.998C>T (p.Ala333Val)	ACTC1, GJD2-DT (A333V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +3 more	GConflicting classifications of pathogenicity
Select item 18329	NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)	ACTC1, GJD2-DT (A333P)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GPathogenic
Select item 2122494	NM_005159.5(ACTC1):c.993T>C (p.Ile331=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +2 more	GLikely benign
Select item 956465	NM_005159.5(ACTC1):c.991A>G (p.Ile331Val)	GJD2-DT, ACTC1 (I331V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2107052	NM_005159.5(ACTC1):c.991-2del	ACTC1, GJD2-DT	Deletion (splice acceptor variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2944475	NM_005159.5(ACTC1):c.991-10_991-8del	ACTC1, GJD2-DT	Deletion (intron variant)	Atrial septal defect 5 +2 more	GLikely benign
Select item 2931249	NM_005159.5(ACTC1):c.991-8T>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Atrial septal defect 5 +2 more	GLikely benign
Select item 538813	NM_005159.5(ACTC1):c.991-10C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 923443	NM_005159.5(ACTC1):c.991-13T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GLikely benign
Select item 1663028	NM_005159.5(ACTC1):c.991-18T>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Atrial septal defect 5 +2 more	GLikely benign
Select item 1983664	NM_005159.5(ACTC1):c.990+15T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 1374609	NM_005159.5(ACTC1):c.990+14_990+15insAAAGAACTTTTGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCNNNNNNNNNNAAAAAAAAAAAAAAAAA	ACTC1, GJD2-DT	Insertion (intron variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2194074	NM_005159.5(ACTC1):c.990+6G>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Atrial septal defect 5 +3 more	GUncertain significance
Select item 1272947	NM_005159.5(ACTC1):c.990+6G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 2922253	NM_005159.5(ACTC1):c.990G>A (p.Lys330=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 180778	NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr)	ACTC1, GJD2-DT (I329T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 993597	NM_005159.5(ACTC1):c.975C>T (p.Ser325=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 1999277	NM_005159.5(ACTC1):c.970_973del (p.Pro324fs)	ACTC1, GJD2-DT (P324fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 538809	NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly)	ACTC1, GJD2-DT (S325G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2170679	NM_005159.5(ACTC1):c.969T>C (p.Ala323=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 180771	NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)	ACTC1, GJD2-DT (A323V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1023541	NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr)	ACTC1, GJD2-DT (A323T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 520303	NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro)	ACTC1, GJD2-DT (A323P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1512610	NM_005159.5(ACTC1):c.964C>G (p.Leu322Val)	ACTC1, GJD2-DT (L322V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 2934988	NM_005159.5(ACTC1):c.962C>T (p.Ala321Val)	ACTC1, GJD2-DT (A174V +2 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 652872	NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup)	ACTC1, GJD2-DT	Duplication (inframe_insertion)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 1001284	NM_005159.5(ACTC1):c.959C>T (p.Thr320Ile)	ACTC1, GJD2-DT (T320I)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 2950148	NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)	ACTC1, GJD2-DT (K170N +2 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GLikely pathogenic
Select item 2921885	NM_005159.5(ACTC1):c.950A>G (p.Lys317Arg)	ACTC1, GJD2-DT (K272R +2 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 1141917	NM_005159.5(ACTC1):c.942T>C (p.Arg314=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +3 more	GLikely benign
Select item 18323	NM_005159.5(ACTC1):c.941G>A (p.Arg314His)	ACTC1, GJD2-DT (R314H)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +4 more	GConflicting classifications of pathogenicity
Select item 644014	NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs)	ACTC1, GJD2-DT (A312fs)	Indel (frameshift variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 487317	NM_005159.5(ACTC1):c.930T>C (p.Gly310=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 45194	NM_005159.5(ACTC1):c.927T>C (p.Pro309=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 948806	NM_005159.5(ACTC1):c.922T>C (p.Tyr308His)	GJD2-DT, ACTC1 (Y308H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 1589436	NM_005159.5(ACTC1):c.915C>T (p.Thr305=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +4 more	GLikely benign
Select item 1038874	NM_005159.5(ACTC1):c.914C>T (p.Thr305Ile)	GJD2-DT, ACTC1 (T305I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 864416	NM_005159.5(ACTC1):c.911G>A (p.Gly304Asp)	ACTC1, GJD2-DT (G304D)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 373651	NM_005159.5(ACTC1):c.908G>T (p.Gly303Val)	GJD2-DT, ACTC1 (G303V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +3 more	GUncertain significance
Select item 1562656	NM_005159.5(ACTC1):c.906T>C (p.Ser302=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 2940781	NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr)	ACTC1, GJD2-DT (S257Y +2 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 45192	NM_005159.5(ACTC1):c.903A>G (p.Leu301=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 658563	NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp)	ACTC1, GJD2-DT (N298D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 18325	NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser)	ACTC1, GJD2-DT (A297S)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GPathogenic
Select item 180769	NM_005159.5(ACTC1):c.886T>C (p.Tyr296His)	GJD2-DT, ACTC1 (Y296H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 180768	NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn)	ACTC1, GJD2-DT (Y296N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 1573628	NM_005159.5(ACTC1):c.885G>C (p.Leu295=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 952949	NM_005159.5(ACTC1):c.884T>A (p.Leu295Gln)	ACTC1, GJD2-DT (L295Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 1477386	NM_005159.5(ACTC1):c.883C>A (p.Leu295Met)	ACTC1, GJD2-DT (L295M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 1999314	NM_005159.5(ACTC1):c.861T>C (p.Cys287=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +2 more	GLikely benign
Select item 1721173	NM_005159.5(ACTC1):c.856A>G (p.Lys286Glu)	ACTC1, GJD2-DT (K139E +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2953358	NM_005159.5(ACTC1):c.854T>G (p.Met285Arg)	ACTC1, GJD2-DT (M285R +2 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 978311	NM_005159.5(ACTC1):c.854T>A (p.Met285Lys)	ACTC1, GJD2-DT (M285K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +3 more	GUncertain significance
Select item 2946707	NM_005159.5(ACTC1):c.852C>T (p.Ile284=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +2 more	GLikely benign
Select item 45191	NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe)	ACTC1, GJD2-DT (I284F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +4 more	GUncertain significance
Select item 2948203	NM_005159.5(ACTC1):c.848G>C (p.Ser283Thr)	ACTC1, GJD2-DT (S136T +2 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 2944417	NM_005159.5(ACTC1):c.813G>T (p.Met271Ile)	ACTC1, GJD2-DT (M124I +2 more)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +2 more	GUncertain significance
Select item 835562	NM_005159.5(ACTC1):c.813G>A (p.Met271Ile)	ACTC1, GJD2-DT (M271I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +2 more	GUncertain significance
Select item 705445	NM_005159.5(ACTC1):c.809-8G>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Atrial septal defect 5 +3 more	GLikely benign
Select item 669963	NM_005159.5(ACTC1):c.809-8G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GLikely benign
Select item 925106	NM_005159.5(ACTC1):c.809-9C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Atrial septal defect 5 +4 more	GLikely benign
Select item 1616923	NM_005159.5(ACTC1):c.809-12_809-11insGTGG	ACTC1, GJD2-DT	Insertion (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 1616904	NM_005159.5(ACTC1):c.809-11C>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +2 more	GLikely benign
Select item 315704	NM_005159.5(ACTC1):c.809-12_809-11insGT	ACTC1, GJD2-DT	Insertion (intron variant)	Hypertrophic cardiomyopathy 11 +7 more	GConflicting classifications of pathogenicity

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