C3711389[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974928	NM_001100.4(ACTA1):c.347C>T (p.Ala116Val)	ACTA1 (A116V)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 974929	NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg)	ACTA1 (P72R)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic/Likely pathogenic