CAPN3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 2579221	GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1	CAPN3, GANC	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 674255	NM_000070.2(CAPN3):c.-641A>G	CAPN3	Single nucleotide variant	not provided	GLikely benign
Select item 674256	NM_000070.2(CAPN3):c.-614C>T	CAPN3	Single nucleotide variant	not provided	GLikely benign
Select item 679854	NM_000070.2(CAPN3):c.-408T>C	CAPN3	Single nucleotide variant	not provided	GBenign
Select item 1246204	NC_000015.10:g.42359484A>C	CAPN3	Single nucleotide variant	not provided	GBenign
Select item 468637	NC_000015.10:g.(?_42359500)_(42412317_?)del	CAPN3, LOC126862115 +2 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 315888	NM_000070.3(CAPN3):c.-300C>G	CAPN3	Single nucleotide variant (5 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +1 more	GUncertain significance
Select item 315889	NM_000070.3(CAPN3):c.-131G>T	CAPN3	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GUncertain significance
Select item 315890	NM_000070.3(CAPN3):c.-104G>C	CAPN3	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888012	NM_000070.3(CAPN3):c.-96A>T	CAPN3	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 510005	NM_000070.3(CAPN3):c.-25G>C	CAPN3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 655755	NC_000015.10:g.(?_42359796)_(42411783_?)del	CAPN3, LOC126862115 +2 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 647946	NC_000015.10:g.(?_42359796)_(42399662_?)del	CAPN3, LOC126862115	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 640989	NC_000015.10:g.(?_42359796)_(42360124_?)del	CAPN3	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 1453744	NM_000070.3(CAPN3):c.1A>G (p.Met1Val)	CAPN3 (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 569125	NM_000070.3(CAPN3):c.2del (p.Met1fs)	CAPN3 (M1fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
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 2032843	NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)	CAPN3 (M1I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 2189718	NM_000070.3(CAPN3):c.5C>G (p.Pro2Arg)	CAPN3 (P2R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 1115792	NM_000070.3(CAPN3):c.6G>T (p.Pro2=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1090091	NM_000070.3(CAPN3):c.6G>A (p.Pro2=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 285181	NM_000070.3(CAPN3):c.7A>G (p.Thr3Ala)	CAPN3 (T3A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 1550625	NM_000070.3(CAPN3):c.9C>T (p.Thr3=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 468640	NM_000070.3(CAPN3):c.10G>A (p.Val4Ile)	CAPN3 (V4I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GUncertain significance
Select item 1083711	NM_000070.3(CAPN3):c.12C>T (p.Val4=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1472496	NM_000070.3(CAPN3):c.13A>G (p.Ile5Val)	CAPN3 (I5V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 1535699	NM_000070.3(CAPN3):c.18C>T (p.Ser6=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 653316	NM_000070.3(CAPN3):c.19G>A (p.Ala7Thr)	CAPN3 (A7T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 452616	NM_000070.3(CAPN3):c.19G>C (p.Ala7Pro)	CAPN3 (A7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1087154	NM_000070.3(CAPN3):c.24T>C (p.Ser8=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1484336	NM_000070.3(CAPN3):c.25G>C (p.Val9Leu)	CAPN3 (V9L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2832078	NM_000070.3(CAPN3):c.39A>G (p.Thr13=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1978982	NM_000070.3(CAPN3):c.41C>A (p.Ala14Glu)	CAPN3 (A14E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 500229	NM_000070.3(CAPN3):c.41C>T (p.Ala14Val)	CAPN3 (A14V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1627353	NM_000070.3(CAPN3):c.42G>C (p.Ala14=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1542237	NM_000070.3(CAPN3):c.42G>A (p.Ala14=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 422846	NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)	CAPN3 (E16K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 989797	NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala)	CAPN3 (E16A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2576665	NM_000070.3(CAPN3):c.49C>T (p.Pro17Ser)	CAPN3 (P17S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 468651	NM_000070.3(CAPN3):c.51C>T (p.Pro17=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 574396	NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp)	CAPN3 (R18W)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GUncertain significance
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 2045867	NM_000070.3(CAPN3):c.54G>C (p.Arg18=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
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 1069199	NM_000070.3(CAPN3):c.60del (p.Pro22fs)	CAPN3 (P22fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2761308	NM_000070.3(CAPN3):c.63del (p.Pro22fs)	CAPN3 (P22fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 285311	NM_000070.3(CAPN3):c.61G>T (p.Gly21Trp)	CAPN3 (G21W)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 92419	NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)	CAPN3 (G21E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GConflicting classifications of pathogenicity
Select item 1107531	NM_000070.3(CAPN3):c.63G>A (p.Gly21=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2757841	NM_000070.3(CAPN3):c.66A>G (p.Pro22=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1923832	NM_000070.3(CAPN3):c.67G>C (p.Val23Leu)	CAPN3 (V23L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 254876	NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)	CAPN3 (H25Y)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1959892	NM_000070.3(CAPN3):c.75C>T (p.His25=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 468652	NM_000070.3(CAPN3):c.77C>G (p.Pro26Arg)	CAPN3 (P26R)	Single nucleotide variant (missense variant)	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 1078940	NM_000070.3(CAPN3):c.78G>T (p.Pro26=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 128574	NM_000070.3(CAPN3):c.78G>A (p.Pro26=)	CAPN3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 502210	NM_000070.3(CAPN3):c.87C>G (p.Ser29Arg)	CAPN3 (S29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 536518	NM_000070.3(CAPN3):c.96_97inv (p.Glu33Lys)	CAPN3 (E33K)	Inversion (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 92422	NM_000070.3(CAPN3):c.96T>C (p.Thr32=)	CAPN3	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 2228653	NM_000070.3(CAPN3):c.97G>A (p.Glu33Lys)	CAPN3 (E33K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 861571	NM_000070.3(CAPN3):c.100del (p.Ala34fs)	CAPN3 (A34fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic
Select item 2439724	NM_000070.3(CAPN3):c.100G>C (p.Ala34Pro)	CAPN3 (A34P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1004010	NM_000070.3(CAPN3):c.100G>A (p.Ala34Thr)	CAPN3 (A34T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 863057	NM_000070.3(CAPN3):c.101C>G (p.Ala34Gly)	CAPN3 (A34G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2137650	NM_000070.3(CAPN3):c.107del (p.Gly36fs)	CAPN3 (G36fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
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 1536272	NM_000070.3(CAPN3):c.105G>A (p.Gly35=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3011601	NM_000070.3(CAPN3):c.107G>C (p.Gly36Ala)	CAPN3 (G36A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2114655	NM_000070.3(CAPN3):c.108T>A (p.Gly36=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 772921	NM_000070.3(CAPN3):c.111A>G (p.Gly37=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1673133	NM_000070.3(CAPN3):c.114C>T (p.Asn38=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1633605	NM_000070.3(CAPN3):c.120T>C (p.Ser40=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3020857	NM_000070.3(CAPN3):c.126C>T (p.Ile42=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2845979	NM_000070.3(CAPN3):c.136_145del (p.Ile46fs)	CAPN3 (I46fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
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 2199528	NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)	CAPN3 (A45V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 3340140	NM_000070.3(CAPN3):c.137TCA[1] (p.Ile47del)	CAPN3 (I47del)	Microsatellite	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 1643852	NM_000070.3(CAPN3):c.141C>T (p.Ile47=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
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 1910725	NM_000070.3(CAPN3):c.151T>C (p.Phe51Leu)	CAPN3 (F51L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 284155	NM_000070.3(CAPN3):c.157A>G (p.Ile53Val)	CAPN3 (I53V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 741741	NM_000070.3(CAPN3):c.159T>C (p.Ile53=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 962150	NM_000070.3(CAPN3):c.160A>G (p.Ile54Val)	CAPN3 (I54V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 796459	NM_000070.3(CAPN3):c.162C>T (p.Ile54=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 654337	NM_000070.3(CAPN3):c.163G>A (p.Gly55Arg)	CAPN3 (G55R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 2439743	NM_000070.3(CAPN3):c.169A>G (p.Lys57Glu)	CAPN3 (K57E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1315385	NM_000070.3(CAPN3):c.172G>A (p.Glu58Lys)	CAPN3 (E58K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006826	NM_000070.3(CAPN3):c.174G>A (p.Glu58=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 286048	NM_000070.3(CAPN3):c.183C>T (p.Phe61=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 965091	NM_000070.3(CAPN3):c.184G>A (p.Glu62Lys)	CAPN3 (E62K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 1613466	NM_000070.3(CAPN3):c.189A>G (p.Gln63=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1370170	NM_000070.3(CAPN3):c.193del (p.His65fs)	CAPN3 (H65fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 536515	NM_000070.3(CAPN3):c.193C>G (p.His65Asp)	CAPN3 (H65D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 841122	NM_000070.3(CAPN3):c.196A>C (p.Lys66Gln)	CAPN3 (K66Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance

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