"Baylor Genetics"[submitter] AND "CAPN3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551104	NM_000070.3(CAPN3):c.59del (p.Pro20fs)	CAPN3 (P20fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic/Likely pathogenic
Select item 1069199	NM_000070.3(CAPN3):c.60del (p.Pro22fs)	CAPN3 (P22fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
Select item 861571	NM_000070.3(CAPN3):c.100del (p.Ala34fs)	CAPN3 (A34fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
Select item 217148	NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)	CAPN3 (A45T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 193037	NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)	CAPN3 (R49C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 217151	NM_000070.3(CAPN3):c.146G>A (p.Arg49His)	CAPN3 (R49H)	Single nucleotide variant (missense variant)	Abnormality of the musculature +4 more	GPathogenic/Likely pathogenic
Select item 92411	NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)	CAPN3 (Y75fs)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic
Select item 287449	NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)	CAPN3 (P78T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282783	NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)	CAPN3 (P82L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 284122	NM_000070.3(CAPN3):c.258dup (p.Leu87fs)	CAPN3 (L87fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 813436	NM_000070.3(CAPN3):c.290dup (p.Val98fs)	CAPN3 (V98fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 2680386	NM_000070.3(CAPN3):c.309+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
Select item 210563	NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)	CAPN3 (R110fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic
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 283107	NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)	CAPN3 (I113T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2680367	NM_000070.3(CAPN3):c.424C>T (p.Gln142Ter)	CAPN3, LOC126862115 (Q142* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
Select item 242415	NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)	CAPN3, LOC126862115 (R147*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic
Select item 2680376	NM_000070.3(CAPN3):c.442G>A (p.Val148Ile)	CAPN3, LOC126862115 (V148I +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 2680366	NM_000070.3(CAPN3):c.461del (p.Ser154fs)	CAPN3, LOC126862115 (S154fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 217156	NM_000070.3(CAPN3):c.483del (p.Ile162fs)	CAPN3, LOC126862115 (I162fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic
Select item 2680387	NM_000070.3(CAPN3):c.498+2T>C	LOC126862115, CAPN3	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 217157	NM_000070.3(CAPN3):c.499-1G>A	CAPN3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
Select item 498205	NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)	CAPN3 (W168*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 2680373	NM_000070.3(CAPN3):c.506G>A (p.Arg169His)	CAPN3 (R169H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GConflicting classifications of pathogenicity
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 217158	NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)	CAPN3 (L189P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 92418	NM_000070.3(CAPN3):c.580del (p.Ser194fs)	CAPN3 (S194fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 315892	NM_000070.3(CAPN3):c.590G>A (p.Arg197His)	CAPN3 (R197H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 420001	NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)	CAPN3 (N198S)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 166786	NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	CAPN3	Deletion (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic
Select item 1325402	NM_000070.3(CAPN3):c.616del (p.Glu206fs)	CAPN3 (E206fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550589	NM_000070.3(CAPN3):c.632+4A>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 1009176	NM_000070.3(CAPN3):c.638A>G (p.His213Arg)	CAPN3 (H213R)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 496915	NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)	CAPN3 (G214S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 217159	NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	CAPN3	Deletion (inframe_deletion)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic
Select item 288404	NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)	CAPN3 (E217K)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 556854	NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)	CAPN3 (G222R)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 2680390	NM_000070.3(CAPN3):c.703del (p.Val235fs)	CAPN3 (V235fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
Select item 536516	NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)	CAPN3 (D243fs)	Indel (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic/Likely pathogenic
Select item 983852	NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)	CAPN3 (Y249*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 197624	NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)	CAPN3 (K254del)	Microsatellite (inframe_deletion)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 283261	NM_000070.3(CAPN3):c.788G>A (p.Gly263Asp)	CAPN3 (G263D)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GConflicting classifications of pathogenicity
Select item 1030578	NM_000070.3(CAPN3):c.793T>G (p.Ser265Ala)	CAPN3 (S265A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 552843	NM_000070.3(CAPN3):c.801+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic
Select item 280037	NM_000070.3(CAPN3):c.802-9G>A	CAPN3	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 2680395	NM_000070.3(CAPN3):c.848_849dup (p.Gly284fs)	CAPN3 (G284fs)	Duplication (frameshift variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 555646	NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)	CAPN3 (M283T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 290732	NM_000070.3(CAPN3):c.853dup (p.Glu285fs)	CAPN3 (E285fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2680394	NM_000070.3(CAPN3):c.853G>T (p.Glu285Ter)	CAPN3 (E198* +1 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
Select item 282646	NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)	CAPN3 (R289W)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +4 more	GPathogenic/Likely pathogenic
Select item 217160	NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)	CAPN3 (D295fs)	Indel (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 813892	NM_000070.3(CAPN3):c.946-29del	CAPN3	Deletion (intron variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 663747	NM_000070.3(CAPN3):c.946-2A>G	CAPN3	Single nucleotide variant (splice acceptor variant)	Abnormality of the musculature +4 more	GPathogenic
Select item 17617	NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)	CAPN3 (P319L +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 1325395	NM_000070.3(CAPN3):c.966T>A (p.Tyr322Ter)	CAPN3 (Y274* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 620114	NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)	CAPN3 (E323* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 553758	NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)	CAPN3 (G329R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 427161	NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg)	CAPN3 (G329R +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 497182	NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)	CAPN3 (E343* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 281254	NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)	CAPN3 (R355W +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 500723	NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)	CAPN3 (R357W +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 198690	NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)	CAPN3 (P359L +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 468639	NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)	CAPN3 (G367S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GConflicting classifications of pathogenicity
Select item 392385	NM_000070.3(CAPN3):c.1115+2T>C	CAPN3	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 217145	NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	CAPN3 (W373R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GConflicting classifications of pathogenicity
Select item 2680389	NM_000070.3(CAPN3):c.1119G>A (p.Trp373Ter)	CAPN3 (W286* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 2680378	NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)	CAPN3 (Q301* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
Select item 217146	NM_000070.3(CAPN3):c.1194-9A>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic
Select item 2680382	NM_000070.3(CAPN3):c.1197del (p.Met399fs)	CAPN3 (M351fs +1 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 965033	NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe)	CAPN3 (Y353F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 281505	NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	CAPN3 (T417M +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +4 more	GPathogenic/Likely pathogenic
Select item 284518	NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)	CAPN3 (D419G +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 282873	NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)	CAPN3 (D419E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 553348	NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs)	CAPN3 (L426fs +1 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic/Likely pathogenic
Select item 557732	NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)	CAPN3 (V385fs +1 more)	Microsatellite (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 282173	NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	CAPN3 (E435K +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 2680368	NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)	CAPN3 (R350G +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic/Likely pathogenic
Select item 285470	NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)	CAPN3 (R437C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 283991	NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)	CAPN3 (R440W +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +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 217147	NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	CAPN3 (R440Q +1 more)	Single nucleotide variant (missense variant)	Abnormality of the musculature +3 more	GPathogenic
Select item 284515	NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	CAPN3 (G445R +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 553662	NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)	CAPN3 (R448G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic/Likely pathogenic
Select item 280038	NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)	CAPN3 (R448C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic
Select item 217149	NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	CAPN3 (R448H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 553345	NM_000070.3(CAPN3):c.1354G>C (p.Asp452His)	CAPN3 (D452H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GConflicting classifications of pathogenicity
Select item 2137656	NM_000070.3(CAPN3):c.1354+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic/Likely pathogenic
Select item 288426	NM_000070.3(CAPN3):c.1355-1G>C	CAPN3, LOC130056921	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic
Select item 501440	NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)	CAPN3, LOC130056921 (R461C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 553852	NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)	CAPN3, LOC130056921 (E467del +1 more)	Microsatellite (inframe_deletion)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 2680372	NM_000070.3(CAPN3):c.1420_1433delinsC (p.Ser474fs)	CAPN3 (S426fs +1 more)	Indel (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 92405	NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)	CAPN3 (S479G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 217150	NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)	CAPN3 (R489W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 289644	NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	CAPN3 (R489Q +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +4 more	GPathogenic/Likely pathogenic
Select item 166790	NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	CAPN3 (R490W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2680381	NM_000070.3(CAPN3):c.1470del (p.Lys491fs)	CAPN3 (K443fs +1 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
Select item 17622	NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	CAPN3 (R490Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic
Select item 286477	NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)	CAPN3 (R493G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity
Select item 193792	NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)	CAPN3 (R493W +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 1198079	NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg)	CAPN3 (G448R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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