"PreventionGenetics, part of Exact Sciences"[submitter] AND "GJD2-DT"[ - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315651	NM_005159.4(ACTC1):c.*1781C>T	GJD2-DT, ACTC1	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 884885	NM_005159.4(ACTC1):c.*1774G>A	ACTC1, GJD2-DT	Single nucleotide variant	ACTC1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 45171	NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +7 more	GBenign/Likely benign
Select item 45194	NM_005159.5(ACTC1):c.927T>C (p.Pro309=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 1584096	NM_005159.5(ACTC1):c.809-58TG[28]	ACTC1, GJD2-DT	Microsatellite (intron variant)	ACTC1-related disorder +3 more	GLikely benign
Select item 1665156	NM_005159.5(ACTC1):c.809-58TG[13]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 929117	NM_005159.5(ACTC1):c.809-58TG[20]	ACTC1, GJD2-DT	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 917566	NM_005159.5(ACTC1):c.809-58TG[19]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Dilated cardiomyopathy 1R +4 more	GBenign/Likely benign
Select item 917552	NM_005159.5(ACTC1):c.809-58TG[16]	ACTC1, GJD2-DT	Microsatellite (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 315709	NM_005159.5(ACTC1):c.809-58TG[17]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Hypertrophic cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 315707	NM_005159.5(ACTC1):c.809-58TG[22]	ACTC1, GJD2-DT	Microsatellite (intron variant)	Hypertrophic cardiomyopathy 11 +9 more	GConflicting classifications of pathogenicity
Select item 2634608	NM_005159.5(ACTC1):c.703TCC[2] (p.Ser237del)	ACTC1, GJD2-DT (S192del +2 more)	Microsatellite (inframe_deletion +1 more)	ACTC1-related disorder	GUncertain significance
Select item 444338	NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr)	ACTC1, GJD2-DT (A222T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +4 more	GConflicting classifications of pathogenicity
Select item 520473	NM_005159.5(ACTC1):c.623G>A (p.Arg208His)	ACTC1, GJD2-DT (R208H)	Single nucleotide variant (missense variant)	ACTC1-related disorder +8 more	GUncertain significance
Select item 3052572	NM_005159.5(ACTC1):c.603C>G (p.Ser201=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	ACTC1-related disorder	GLikely benign
Select item 1748233	NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)	ACTC1, GJD2-DT (R140Q +2 more)	Single nucleotide variant (missense variant)	ACTC1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2447969	NM_005159.5(ACTC1):c.521C>A (p.Pro174His)	ACTC1, GJD2-DT (P129H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 377436	NM_005159.5(ACTC1):c.455-7C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not specified +5 more	GLikely benign
Select item 751158	NM_005159.5(ACTC1):c.432G>T (p.Leu144=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +4 more	GLikely benign
Select item 659534	NM_005159.5(ACTC1):c.375G>C (p.Met125Ile)	ACTC1, GJD2-DT (M125I)	Single nucleotide variant (missense variant)	ACTC1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 220307	NM_005159.5(ACTC1):c.333G>A (p.Pro111=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 920028	NM_005159.5(ACTC1):c.166G>A (p.Val56Ile)	ACTC1, GJD2-DT (V56I)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 259653	NM_005159.5(ACTC1):c.129+32C>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 35646	NM_005159.5(ACTC1):c.129+18dup	ACTC1, GJD2-DT	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 517958	NM_005159.5(ACTC1):c.129+6C>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	ACTC1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 2925106	NM_005159.5(ACTC1):c.93T>A (p.Ala31=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	ACTC1-related disorder +3 more	GLikely benign

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Items: 26