"3billion"[submitter] AND "ACTN2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333296	NM_001103.4(ACTN2):c.311T>A (p.Leu104Ter)	ACTN2 (L104*)	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1AA	GLikely pathogenic
Select item 1485887	NM_001103.4(ACTN2):c.718_727del (p.Pro240fs)	ACTN2 (P240fs)	Deletion (frameshift variant +2 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance