"Lifecell International Pvt. Ltd"[submitter] AND "CAPN3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 280037	NM_000070.3(CAPN3):c.802-9G>A	CAPN3	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 498267	NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	CAPN3 (R541W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GPathogenic/Likely pathogenic
Select item 281184	NM_000070.3(CAPN3):c.2051-1G>T	CAPN3	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic

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ClinVar