C4225181[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - 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 18283	NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)	ACTA1 (E261V)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +4 more	GPathogenic/Likely pathogenic
Select item 257445	NM_001100.4(ACTA1):c.453C>A (p.Thr151=)	ACTA1	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +5 more	GBenign/Likely benign