C3711389[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 420100	NM_001100.4(ACTA1):c.541del (p.Asp181fs)	ACTA1 (D181fs)	Deletion (frameshift variant)	Actin accumulation myopathy +1 more	GPathogenic/Likely pathogenic
Select item 941283	NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile)	ACTA1 (T79I)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic/Likely pathogenic
Select item 1679829	NM_001100.4(ACTA1):c.158A>T (p.Asp53Val)	ACTA1 (D53V)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance

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