"3billion"[submitter] AND "CAPN3"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687386	NM_000070.3(CAPN3):c.202T>C (p.Cys68Arg)	CAPN3 (C68R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 17615	NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	CAPN3 (R110*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic
Select item 1325399	NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly)	CAPN3 (R118G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 2444303	NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)	CAPN3 (D40N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Elevated circulating creatine kinase concentration +24 more	GPathogenic
Select item 289751	NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)	CAPN3 (A203V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289752	NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg)	CAPN3 (K250R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 554341	NM_000070.3(CAPN3):c.1524+1G>T	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 970519	NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)	CAPN3 (Q521* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 423920	NM_000070.3(CAPN3):c.2115+4T>G	CAPN3	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 468648	NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	CAPN3 (D707G +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1333344	NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val)	CAPN3 (A106V +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic