"Clinical Genetics, Academic Medical Center"[submitter] AND "GJD2-DT"[ - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1174874	NM_005159.5(ACTC1):c.967G>T (p.Ala323Ser)	ACTC1, GJD2-DT (A323S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11	GUncertain significance
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 1284283	NM_005159.5(ACTC1):c.821C>T (p.Ala274Val)	ACTC1, GJD2-DT (A274V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 45178	NM_005159.5(ACTC1):c.454+9G>A	GJD2-DT, ACTC1	Single nucleotide variant (intron variant)	Atrial septal defect 5 +6 more	GBenign/Likely benign
Select item 18331	NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	GJD2-DT, ACTC1 (E101K)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 45172	NM_005159.5(ACTC1):c.219C>T (p.Ile73=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 162708	NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 35645	NM_005159.5(ACTC1):c.129+19_129+20insT	ACTC1, GJD2-DT	Insertion (intron variant)	not specified +4 more	GBenign