"Baylor Genetics"[submitter] AND "ACTN1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2177527	NM_001130004.2(ACTN1):c.2474G>A (p.Arg825His)	ACTN1 (R798H +4 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +1 more	GUncertain significance
Select item 42031	NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)	ACTN1 (R46Q)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +2 more	GPathogenic/Likely pathogenic