Related gene-specific medical variations for Gene (Select 825) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383177	NM_000070.3(CAPN3):c.1745+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3362318	NM_000070.3(CAPN3):c.2235C>G (p.Tyr745Ter)	CAPN3 (Y233* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3263219	NM_000070.3(CAPN3):c.1396G>A (p.Glu466Lys)	CAPN3, LOC130056921 (E418K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243805	NC_000015.9:g.(?_42693819)_(42695220_?)del	CAPN3	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3243804	NC_000015.9:g.(?_42686437)_(42688200_?)del	CAPN3	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3242028	NM_000070.3(CAPN3):c.430C>T (p.Leu144Phe)	CAPN3, LOC126862115 (L144F +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GUncertain significance
Select item 3241006	NM_000070.3(CAPN3):c.233del (p.Pro78fs)	CAPN3 (P78fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3241003	NM_000070.3(CAPN3):c.1030-1G>T	CAPN3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3241002	NM_000070.3(CAPN3):c.2184+2T>G	CAPN3	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3241000	NM_000070.3(CAPN3):c.249_253del (p.Glu84fs)	CAPN3 (E84fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
Select item 3240999	NM_000070.3(CAPN3):c.225T>A (p.Tyr75Ter)	CAPN3 (Y75*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240998	NM_000070.3(CAPN3):c.2456_*4del (p.Met819_Ter822delinsXaa)	CAPN3	Deletion (stop lost)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240997	NM_000070.3(CAPN3):c.1355-2A>G	CAPN3, LOC130056921	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240995	NM_000070.3(CAPN3):c.633-2A>C	CAPN3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240994	NM_000070.3(CAPN3):c.1954C>T (p.Gln652Ter)	CAPN3 (Q140* +3 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240993	NM_000070.3(CAPN3):c.2381-2A>C	CAPN3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240992	NM_000070.3(CAPN3):c.1536G>A (p.Glu512=)	CAPN3	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240991	NM_000070.3(CAPN3):c.2308dup (p.Tyr770fs)	CAPN3 (Y105fs +4 more)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240990	NM_000070.3(CAPN3):c.883_886dup (p.Asn296delinsArgTer)	CAPN3	Duplication (nonsense +2 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240988	NM_000070.3(CAPN3):c.1193+1del	CAPN3	Deletion (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3011491	NM_000070.3(CAPN3):c.1375C>T (p.Gln459Ter)	CAPN3, LOC130056921 (Q372* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 2989803	NM_000070.3(CAPN3):c.498+11G>A	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2983101	NM_000070.3(CAPN3):c.444C>A (p.Val148=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2962444	NM_000070.3(CAPN3):c.468C>G (p.Ile156Met)	CAPN3, LOC126862115 (I156M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2917604	NM_000070.3(CAPN3):c.498+16T>A	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2915910	NM_000070.3(CAPN3):c.1368C>G (p.Thr456=)	CAPN3, LOC130056921	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2914679	NM_000070.3(CAPN3):c.498+11G>T	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2894066	NM_000070.3(CAPN3):c.396C>T (p.Leu132=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2886584	NM_000070.3(CAPN3):c.380-15T>C	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2885751	NM_000070.3(CAPN3):c.459A>G (p.Gln153=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2873783	NM_000070.3(CAPN3):c.498+14A>G	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2797772	NM_000070.3(CAPN3):c.483G>A (p.Gly161=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2737790	NM_000070.3(CAPN3):c.498+20G>A	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2736175	NM_000070.3(CAPN3):c.413T>C (p.Leu138Pro)	CAPN3, LOC126862115 (L138P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 2728502	NM_000070.3(CAPN3):c.498+16T>C	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2717792	NM_000070.3(CAPN3):c.480A>C (p.Ala160=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2690558	NM_000070.3(CAPN3):c.1001_1002insGA (p.His334fs)	CAPN3 (H286fs +1 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 2688717	NM_000070.3(CAPN3):c.1489G>C (p.Ala497Pro)	CAPN3 (A410P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688716	NM_000070.3(CAPN3):c.1814T>G (p.Val605Gly)	CAPN3 (V599G +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
Select item 2680390	NM_000070.3(CAPN3):c.703del (p.Val235fs)	CAPN3 (V235fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
Select item 2680387	NM_000070.3(CAPN3):c.498+2T>C	CAPN3, LOC126862115	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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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	Gno classifications from unflagged records
Select item 2680370	NM_000070.3(CAPN3):c.2092_2095dup (p.Ser699delinsThrTer)	CAPN3	Duplication (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4	Gno classifications from unflagged records
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	Gno classifications from unflagged records
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 2506065	NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu)	CAPN3, LOC126862115 (G127E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 2503427	NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)	CAPN3 (W289* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 2439750	NM_000070.3(CAPN3):c.1881A>G (p.Lys627=)	CAPN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2439749	NM_000070.3(CAPN3):c.2033A>T (p.Asn678Ile)	CAPN3 (N13I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439748	NM_000070.3(CAPN3):c.1844T>A (p.Leu615Gln)	CAPN3 (L103Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439747	NM_000070.3(CAPN3):c.1782+3G>A	CAPN3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2439746	NM_000070.3(CAPN3):c.922G>C (p.Gly308Arg)	CAPN3 (G221R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439745	NM_000070.3(CAPN3):c.1867G>A (p.Glu623Lys)	CAPN3 (E111K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439744	NM_000070.3(CAPN3):c.1988G>A (p.Gly663Glu)	CAPN3 (G151E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439741	NM_000070.3(CAPN3):c.1537-29A>T	CAPN3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2439740	NM_000070.3(CAPN3):c.1099delinsAACAAGAACCGTT (p.Gly367delinsAsnLysAsnArgCys)	CAPN3	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2439739	NM_000070.3(CAPN3):c.610C>G (p.Leu204Val)	CAPN3 (L117V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439737	NM_000070.3(CAPN3):c.2156A>C (p.His719Pro)	CAPN3 (H207P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439736	NM_000070.3(CAPN3):c.1927A>C (p.Ser643Arg)	CAPN3 (S131R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439734	NM_000070.3(CAPN3):c.1003G>T (p.Ala335Ser)	CAPN3 (A248S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439733	NM_000070.3(CAPN3):c.2264G>A (p.Gly755Glu)	CAPN3 (G243E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439732	NM_000070.3(CAPN3):c.2099T>A (p.Met700Lys)	CAPN3 (M188K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439731	NM_000070.3(CAPN3):c.815T>C (p.Met272Thr)	CAPN3 (M185T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439730	NM_000070.3(CAPN3):c.2384C>A (p.Ala795Asp)	CAPN3 (A130D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439729	NM_000070.3(CAPN3):c.406G>C (p.Ala136Pro)	LOC126862115, CAPN3 (A136P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439728	NM_000070.3(CAPN3):c.238T>G (p.Phe80Val)	CAPN3 (F80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439727	NM_000070.3(CAPN3):c.1550A>G (p.Lys517Arg)	CAPN3 (K469R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439726	NM_000070.3(CAPN3):c.2300C>T (p.Thr767Ile)	CAPN3 (T102I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439723	NM_000070.3(CAPN3):c.1088T>A (p.Val363Glu)	CAPN3 (V276E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439722	NM_000070.3(CAPN3):c.1942A>G (p.Ser648Gly)	CAPN3 (S136G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439721	NM_000070.3(CAPN3):c.560A>G (p.Asn187Ser)	CAPN3 (N100S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439720	NM_000070.3(CAPN3):c.440G>T (p.Arg147Leu)	LOC126862115, CAPN3 (R147L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438834	NM_000070.3(CAPN3):c.1355-2A>C	CAPN3, LOC130056921	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2438807	NM_000070.3(CAPN3):c.1729_1730del (p.Lys577fs)	CAPN3 (K529fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2438803	NM_000070.3(CAPN3):c.2014G>T (p.Glu672Ter)	CAPN3 (E160* +4 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2242283	NM_000070.3(CAPN3):c.467T>C (p.Ile156Thr)	CAPN3, LOC126862115 (I156T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2183334	NM_000070.3(CAPN3):c.1355-6G>C	CAPN3, LOC130056921	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2139533	NM_000070.3(CAPN3):c.1355A>G (p.Asp452Gly)	CAPN3, LOC130056921 (D404G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2134327	NM_000070.3(CAPN3):c.496del (p.Gln166fs)	CAPN3, LOC126862115 (Q166fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 2107064	NM_000070.3(CAPN3):c.396C>G (p.Leu132=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2098864	NM_000070.3(CAPN3):c.380-1G>A	CAPN3, LOC126862115	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 2098863	NM_000070.3(CAPN3):c.380-2A>G	CAPN3, LOC126862115	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic

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