"3billion"[submitter] AND "ACTA1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705499	NM_001100.4(ACTA1):c.448A>T (p.Thr150Ser)	ACTA1 (T150S)	Single nucleotide variant (missense variant)	Progressive scapulohumeroperoneal distal myopathy	GLikely pathogenic
Select item 654469	NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)	ACTA1 (E95K)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GConflicting classifications of pathogenicity