"Baylor Genetics"[submitter] AND "ACTA1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442103	NM_001100.4(ACTA1):c.1127G>A (p.Cys376Tyr)	ACTA1 (C376Y)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 1031829	NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg)	ACTA1 (P334R)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 464139	NM_001100.4(ACTA1):c.990+1G>T	ACTA1	Single nucleotide variant (splice donor variant)	Actin accumulation myopathy +1 more	GPathogenic/Likely pathogenic
Select item 3238763	NM_001100.4(ACTA1):c.739G>T (p.Gly247Trp)	ACTA1 (G247W)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 560935	NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro)	ACTA1 (L180P)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 420707	NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser)	ACTA1 (G160S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GPathogenic/Likely pathogenic
Select item 1031830	NM_001100.4(ACTA1):c.400A>G (p.Met134Val)	ACTA1 (M134V)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 1029075	NM_001100.4(ACTA1):c.350del (p.Asn117fs)	ACTA1 (N117fs)	Deletion (frameshift variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 1475492	NM_001100.4(ACTA1):c.346G>A (p.Ala116Thr)	ACTA1 (A116T)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 93548	NM_001100.4(ACTA1):c.133G>T (p.Val45Phe)	ACTA1	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GPathogenic/Likely pathogenic
Select item 464114	NM_001100.4(ACTA1):c.109G>T (p.Val37Leu)	ACTA1 (V37L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 560936	NM_001100.4(ACTA1):c.82G>C (p.Ala28Pro)	ACTA1 (A28P)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 1029074	NM_001100.4(ACTA1):c.1A>G (p.Met1Val)	ACTA1 (M1V)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion	GUncertain significance