C3554663[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42030	NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln)	ACTN1 (R752Q)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +1 more	GUncertain significance
Select item 42032	NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp)	ACTN1 (R738W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 42033	NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys)	ACTN1 (E225K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GPathogenic
Select item 42028	NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)	ACTN1 (V105I)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15 +2 more	GPathogenic/Likely pathogenic
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
Select item 42029	NM_001130004.2(ACTN1):c.94C>A (p.Gln32Lys)	ACTN1 (Q32K)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GPathogenic

ClinVar