ClinVar for MedGen (Select 1840969) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2775438	NM_001100.4(ACTA1):c.954G>C (p.Glu318Asp)	ACTA1 (E318D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +2 more	GUncertain significance
Select item 2501790	NM_001100.4(ACTA1):c.593G>A (p.Arg198His)	ACTA1 (R198H)	Single nucleotide variant (missense variant)	Congenital myopathy 2c, severe infantile, autosomal dominant	GPathogenic
Select item 2443893	NM_001100.4(ACTA1):c.863A>G (p.Asp288Gly)	ACTA1 (D288G)	Single nucleotide variant (missense variant)	Congenital myopathy 2c, severe infantile, autosomal dominant	GPathogenic
Select item 1452968	NM_001100.4(ACTA1):c.124C>T (p.His42Tyr)	ACTA1 (H42Y)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 50318	NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn)	ACTA1 (K328N)	Single nucleotide variant (missense variant)	Congenital myopathy 2c, severe infantile, autosomal dominant	GPathogenic
Select item 18293	NM_001100.3(ACTA1):c.[222G>T;223C>T]	ACTA1 (H75Y)	Single nucleotide variant (missense variant)	Congenital myopathy 2c, severe infantile, autosomal dominant	GPathogenic
Select item 18291	NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)	ACTA1 (P334S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 18290	NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)	ACTA1 (L223P)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GConflicting classifications of pathogenicity
Select item 18289	NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)	ACTA1 (D294V)	Single nucleotide variant (missense variant)	Congenital myopathy 2c, severe infantile, autosomal dominant +1 more	GPathogenic
Select item 18284	NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu)	ACTA1 (I359L)	Single nucleotide variant (missense variant)	Congenital myopathy 2c, severe infantile, autosomal dominant	GPathogenic
Select item 18282	NM_001100.4(ACTA1):c.493G>T (p.Val165Leu)	ACTA1 (V165L)	Single nucleotide variant (missense variant)	Congenital myopathy 2c, severe infantile, autosomal dominant +1 more	GPathogenic
Select item 18281	NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)	ACTA1 (G17R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic