ClinVar for MedGen (Select 1648316) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2680393	NM_000070.3(CAPN3):c.2051-1G>A	CAPN3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 2680392	NM_000070.3(CAPN3):c.2117C>A (p.Thr706Lys)	CAPN3 (T194K +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 2680391	NM_000070.3(CAPN3):c.2340_2341del (p.Asp780fs)	CAPN3 (D115fs +4 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely 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 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 2680388	NM_000070.3(CAPN3):c.2209G>A (p.Asp737Asn)	CAPN3 (D225N +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
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 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 2680385	NM_000070.3(CAPN3):c.1800+1G>A	CAPN3	Single nucleotide variant (splice donor variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
Select item 2680383	NM_000070.3(CAPN3):c.1693C>T (p.Gln565Ter)	CAPN3 (Q517* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4	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 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 2680380	NM_000070.3(CAPN3):c.1996_1997del (p.Met666fs)	CAPN3 (M154fs +4 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 2680379	NM_000070.3(CAPN3):c.1807_1808dup (p.Phe604fs)	CAPN3 (F598fs +2 more)	Duplication (frameshift variant +1 more)	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 2680377	NM_000070.3(CAPN3):c.1858del (p.Glu620fs)	CAPN3 (E108fs +2 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	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 2680374	NM_000070.3(CAPN3):c.1795del (p.Thr599fs)	CAPN3 (T599fs +1 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
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 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 2680371	NM_000070.3(CAPN3):c.2375T>A (p.Met792Lys)	CAPN3 (M127K +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
Select item 2680370	NM_000070.3(CAPN3):c.2092_2095dup (p.Ser699delinsThrTer)	CAPN3	Duplication (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 2680369	NM_000070.3(CAPN3):c.2289T>G (p.Tyr763Ter)	CAPN3 (Y251* +4 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
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 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 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 2585336	NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)	CAPN3 (Q632fs +2 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GLikely pathogenic
Select item 2585299	NM_000070.3(CAPN3):c.2319dup (p.His774fs)	CAPN3 (H682fs +4 more)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 2203767	NM_000070.3(CAPN3):c.266A>G (p.Tyr89Cys)	CAPN3 (Y89C)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GUncertain significance
Select item 2137657	NM_000070.3(CAPN3):c.1823G>A (p.Arg608Lys)	CAPN3 (R608K +2 more)	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A +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 2096492	NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)	CAPN3 (Q123* +2 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic/Likely pathogenic
Select item 1992353	NM_000070.3(CAPN3):c.871G>A (p.Val291Ile)	CAPN3 (V291I +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GUncertain significance
Select item 1428600	NM_000070.3(CAPN3):c.2201del (p.Tyr734fs)	CAPN3 (Y69fs +4 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic/Likely pathogenic
Select item 1329478	NM_000070.3(CAPN3):c.642T>G (p.Gly214=)	CAPN3	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GUncertain significance
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 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 1319979	NM_000070.3(CAPN3):c.452A>G (p.His151Arg)	CAPN3, LOC126862115 (H151R)	Single nucleotide variant (missense variant)	Familial idiopathic inflammatory myopathy +2 more	GUncertain significance
Select item 1285364	NM_000070.3(CAPN3):c.2257delinsAA (p.Asp753fs)	CAPN3 (D241fs +4 more)	Indel (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
Select item 1210371	NM_000070.3(CAPN3):c.2177C>T (p.Ala726Val)	CAPN3 (A214V +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 1210370	NM_000070.3(CAPN3):c.512G>A (p.Gly171Glu)	CAPN3 (G171E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 1210369	NM_000070.3(CAPN3):c.2195A>C (p.Lys732Thr)	CAPN3 (K220T +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
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
Select item 1195948	NM_000070.3(CAPN3):c.104G>C (p.Gly35Ala)	CAPN3 (G35A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 1177541	NM_000070.3(CAPN3):c.633-69G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GBenign
Select item 1150476	NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)	CAPN3, LOC130056921	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GConflicting classifications of pathogenicity
Select item 1135030	NM_000070.3(CAPN3):c.1062G>A (p.Val354=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
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 1069050	NM_000070.3(CAPN3):c.1788_1791del (p.Lys598fs)	CAPN3 (K598fs +1 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
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 992368	NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr)	CAPN3 (A242T +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GUncertain significance
Select item 983852	NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)	CAPN3 (Y249*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GLikely pathogenic
Select item 970519	NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)	CAPN3 (Q521* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
Select item 968561	NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln)	CAPN3 (R445Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
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 955422	NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)	CAPN3 (E54K +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 946832	NM_000070.3(CAPN3):c.1782+1072G>C	CAPN3	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
Select item 935255	NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs)	CAPN3 (E110fs +2 more)	Microsatellite (frameshift variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic
Select item 930311	NM_000070.3(CAPN3):c.1113T>A (p.Asp371Glu)	CAPN3 (D323E +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GUncertain significance
Select item 863674	NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe)	CAPN3 (V461F +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GLikely pathogenic
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 852590	NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr)	CAPN3 (I36T +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 849826	NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)	CAPN3 (W209* +4 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic/Likely pathogenic
Select item 813982	NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)	CAPN3 (Q633* +2 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 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 680086	NM_000070.3(CAPN3):c.1746-64C>T	CAPN3	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GBenign/Likely benign
Select item 678305	NM_000070.3(CAPN3):c.2381-79T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GBenign
Select item 678278	NM_000070.3(CAPN3):c.1992+110T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GBenign
Select item 663747	NM_000070.3(CAPN3):c.946-2A>G	CAPN3	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic
Select item 652571	NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro)	CAPN3 (R677P +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GConflicting classifications of pathogenicity
Select item 651266	NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg)	CAPN3 (K596R +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 648827	NM_000070.3(CAPN3):c.349A>C (p.Asn117His)	CAPN3 (N117H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 632230	NM_000070.3(CAPN3):c.2380+2T>G	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity
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 595306	NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)	CAPN3 (Q619* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 578891	NM_000070.3(CAPN3):c.1771del (p.Asp591fs)	CAPN3 (D591fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 574396	NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp)	CAPN3 (R18W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 571060	NM_000070.3(CAPN3):c.2465G>T (p.Ter822Leu)	CAPN3	Single nucleotide variant (stop lost)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GConflicting classifications of pathogenicity
Select item 567245	NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln)	CAPN3 (R18Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
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 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 555646	NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)	CAPN3 (M283T)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 555599	NM_000070.3(CAPN3):c.2115+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 555344	NM_000070.3(CAPN3):c.2380+1G>T	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic/Likely pathogenic
Select item 555001	NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)	CAPN3 (S744G +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GConflicting classifications of pathogenicity
Select item 554906	NM_000070.3(CAPN3):c.1838del (p.Lys613fs)	CAPN3 (K101fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
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 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 553754	NM_000070.3(CAPN3):c.2050+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic
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 553468	NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)	CAPN3 (Y401C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +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 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 553313	NM_000070.3(CAPN3):c.1988_1990del (p.Gly663del)	CAPN3 (G663del +3 more)	Deletion (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 553020	NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)	CAPN3 (E553K +2 more)	Single nucleotide variant (missense variant)	Abnormality of the musculature +3 more	GPathogenic/Likely pathogenic
Select item 552945	NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)	CAPN3 (D107fs +4 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic
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 551927	NM_000070.3(CAPN3):c.2069_2070del (p.His690fs)	CAPN3 (H178fs +4 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic

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