C3711389[trait identifier] AND "Center for Genomic Medicine, King Fais - 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 872627	NM_001100.4(ACTA1):c.773G>A (p.Arg258His)	ACTA1 (R258H)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GPathogenic
Select item 3065810	NM_001100.4(ACTA1):c.769T>C (p.Phe257Leu)	ACTA1 (F257L)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 974928	NM_001100.4(ACTA1):c.347C>T (p.Ala116Val)	ACTA1 (A116V)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic

Format

Sort by

Choose Destination