"DASA"[submitter] AND "CAPN3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17615	NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	CAPN3 (R110*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more	GPathogenic
Select item 282173	NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	CAPN3 (E435K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GPathogenic/Likely pathogenic
Select item 281062	NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	CAPN3 (G393fs +1 more)	Deletion (frameshift variant)	not provided +8 more	GPathogenic
Select item 166790	NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	CAPN3 (R490W +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +5 more	GPathogenic/Likely pathogenic
Select item 281081	NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)	CAPN3 (D753N +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity

ClinVar