"Counsyl"[submitter] AND "CAPN3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556702	NM_000070.3(CAPN3):c.2T>C (p.Met1Thr)	CAPN3 (M1T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 551104	NM_000070.3(CAPN3):c.59del (p.Pro20fs)	CAPN3 (P20fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic/Likely pathogenic
Select item 553010	NM_000070.3(CAPN3):c.75_83del (p.His25_Ala27del)	CAPN3	Deletion (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 283251	NM_000070.3(CAPN3):c.77C>T (p.Pro26Leu)	CAPN3 (P26L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 217148	NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)	CAPN3 (A45T)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 549977	NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn)	CAPN3 (S48N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
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)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +4 more	GPathogenic/Likely pathogenic
Select item 554405	NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser)	CAPN3 (N50S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 558555	NM_000070.3(CAPN3):c.212del (p.Lys71fs)	CAPN3 (K71fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 500549	NM_000070.3(CAPN3):c.224A>G (p.Tyr75Cys)	CAPN3 (Y75C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 556828	NM_000070.3(CAPN3):c.235G>C (p.Glu79Gln)	CAPN3 (E79Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
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 551283	NM_000070.3(CAPN3):c.259C>G (p.Leu87Val)	CAPN3 (L87V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 552569	NM_000070.3(CAPN3):c.309G>A (p.Pro103=)	CAPN3	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 210563	NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)	CAPN3 (R110fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
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 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 550332	NM_000070.3(CAPN3):c.369del (p.Gly124fs)	CAPN3 (G124fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 556559	NM_000070.3(CAPN3):c.380-8_395del	CAPN3, LOC126862115	Deletion (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 290335	NM_000070.3(CAPN3):c.398C>T (p.Ala133Val)	CAPN3, LOC126862115 (A133V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 286591	NM_000070.3(CAPN3):c.402del (p.Ile135fs)	CAPN3, LOC126862115 (I135fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552291	NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln)	CAPN3, LOC126862115 (R147Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 217157	NM_000070.3(CAPN3):c.499-1G>A	CAPN3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 498205	NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)	CAPN3 (W168*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic/Likely pathogenic
Select item 536519	NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys)	CAPN3 (R169C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 557074	NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)	CAPN3 (Y170C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic/Likely pathogenic
Select item 92418	NM_000070.3(CAPN3):c.580del (p.Ser194fs)	CAPN3 (S194fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 315892	NM_000070.3(CAPN3):c.590G>A (p.Arg197His)	CAPN3 (R197H)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +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)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GConflicting classifications of pathogenicity
Select item 550589	NM_000070.3(CAPN3):c.632+4A>G	CAPN3	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
Select item 284946	NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)	CAPN3 (K211N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 496915	NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)	CAPN3 (G214S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 217159	NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	CAPN3	Deletion (inframe_deletion)	not provided +2 more	GPathogenic
Select item 556854	NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)	CAPN3 (G222R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 555878	NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly)	CAPN3 (D230G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 501754	NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)	CAPN3 (G234E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic/Likely pathogenic
Select item 284807	NM_000070.3(CAPN3):c.717del (p.Phe239fs)	CAPN3 (F239fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 555279	NM_000070.3(CAPN3):c.739G>A (p.Asp247Asn)	CAPN3 (D247N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 555260	NM_000070.3(CAPN3):c.741_751del (p.Met248fs)	CAPN3 (M248fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic/Likely pathogenic
Select item 555359	NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)	CAPN3 (M252T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity
Select item 197624	NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)	CAPN3 (K254del)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GPathogenic/Likely pathogenic
Select item 552843	NM_000070.3(CAPN3):c.801+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 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 552972	NM_000070.3(CAPN3):c.835_837del (p.Ser279del)	CAPN3 (S279del)	Deletion (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
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 +1 more	GPathogenic/Likely pathogenic
Select item 282646	NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)	CAPN3 (R289W)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 468653	NM_000070.3(CAPN3):c.945+5G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 497002	NM_000070.3(CAPN3):c.946-1_948del	CAPN3	Deletion (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic/Likely pathogenic
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 557810	NM_000070.3(CAPN3):c.958G>T (p.Val320Phe)	CAPN3 (V320F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 554290	NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)	CAPN3 (Y322H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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	GLikely pathogenic
Select item 501051	NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp)	CAPN3 (G333D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GUncertain significance
Select item 285580	NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)	CAPN3 (H334L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 556764	NM_000070.3(CAPN3):c.1030-1G>A	CAPN3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic/Likely pathogenic
Select item 286813	NM_000070.3(CAPN3):c.1043del (p.Gly348fs)	CAPN3 (G300fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 557454	NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly)	CAPN3 (V354G +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 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)	not provided +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)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity
Select item 430022	NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)	CAPN3 (R357Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 550578	NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)	CAPN3 (W360* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 468639	NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)	CAPN3 (G367S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GConflicting classifications of pathogenicity
Select item 557944	NM_000070.3(CAPN3):c.1115+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 217145	NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	CAPN3 (W373R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 557085	NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys)	CAPN3 (R386C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 217146	NM_000070.3(CAPN3):c.1194-9A>G	CAPN3	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic
Select item 556025	NM_000070.3(CAPN3):c.1198del (p.Ser400fs)	CAPN3 (S400fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 553468	NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)	CAPN3 (Y401C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 557169	NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter)	CAPN3 (E412* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 281505	NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	CAPN3 (T417M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +4 more	GPathogenic/Likely pathogenic
Select item 553348	NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs)	CAPN3 (L426fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely 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 254859	NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity
Select item 285470	NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)	CAPN3 (R437C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +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)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 281062	NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	CAPN3 (G393fs +1 more)	Deletion (frameshift variant)	CAPN3-related disorder +7 more	GPathogenic
Select item 217147	NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	CAPN3 (R440Q +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic
Select item 284515	NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	CAPN3 (G445R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +2 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)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +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)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GPathogenic
Select item 553345	NM_000070.3(CAPN3):c.1354G>C (p.Asp452His)	CAPN3 (D452H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 558364	NM_000070.3(CAPN3):c.1355-6G>T	CAPN3, LOC130056921	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GConflicting classifications of pathogenicity
Select item 501440	NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)	CAPN3, LOC130056921 (R461C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely 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 497181	NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met)	CAPN3 (L484M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 217150	NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)	CAPN3 (R489W +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +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)	Autosomal recessive limb-girdle muscular dystrophy type 2A +4 more	GPathogenic/Likely pathogenic
Select item 17622	NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	CAPN3 (R490Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 286477	NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)	CAPN3 (R493G +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +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)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 282512	NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)	CAPN3 (I502T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 502152	NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)	CAPN3 (I506T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 555825	NM_000070.3(CAPN3):c.1537-40C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
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 92407	NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	CAPN3 (R541Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 284465	NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)	CAPN3 (R546C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity

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