"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GJD2-DT"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 888204	NM_005159.4(ACTC1):c.*388G>C	GJD2-DT, ACTC1	Single nucleotide variant	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 885083	NM_005159.5(ACTC1):c.*39C>T	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 1393320	NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro)	ACTC1, GJD2-DT (Q362P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 1023541	NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr)	ACTC1, GJD2-DT (A323T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 1650668	NM_005159.5(ACTC1):c.809-58TG[29]	ACTC1, GJD2-DT	Microsatellite (intron variant)	not specified +3 more	GLikely benign
Select item 986417	NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro)	ACTC1, GJD2-DT (L238P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 517203	NM_005159.5(ACTC1):c.532A>T (p.Met178Leu)	ACTC1, GJD2-DT (M178L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +5 more	GUncertain significance
Select item 240100	NM_005159.5(ACTC1):c.456C>T (p.Gly152=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +4 more	GLikely benign
Select item 18331	NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	ACTC1, GJD2-DT (E101K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 379628	NM_005159.5(ACTC1):c.129+18C>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +3 more	GLikely benign
Select item 240098	NM_005159.5(ACTC1):c.129G>A (p.Gln43=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 180752	NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs)	ACTC1, GJD2-DT (K20fs)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy 11 +5 more	GUncertain significance
Select item 538810	NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn)	ACTC1, GJD2-DT (D4N)	Single nucleotide variant (missense variant)	Atrial septal defect 5 +4 more	GUncertain significance