"SIB Swiss Institute of Bioinformatics"[submitter] AND "CAPN3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92417	NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)	CAPN3, LOC126862115 (A160G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GBenign/Likely benign
Select item 166790	NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	CAPN3 (R490W +1 more)	Single nucleotide variant (missense variant)	CAPN3-related condition +5 more	GPathogenic/Likely pathogenic