C4551903[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45639	NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)	ANKRD1 (A276V)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 45636	NM_014391.3(ANKRD1):c.652-10A>T	ANKRD1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 45631	NM_014391.3(ANKRD1):c.346-17_346-10del	ANKRD1	Microsatellite (intron variant)	Dilated Cardiomyopathy, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 136401	NM_014391.3(ANKRD1):c.208-16C>T	ANKRD1	Single nucleotide variant (intron variant)	Congenital total pulmonary venous return anomaly +3 more	GBenign
Select item 178005	NM_014391.3(ANKRD1):c.150C>G (p.Ala50=)	ANKRD1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 136404	NM_014391.3(ANKRD1):c.-17A>G	ANKRD1	Single nucleotide variant (5 prime UTR variant)	Primary dilated cardiomyopathy +3 more	GBenign/Likely benign

ClinVar