"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CAPN3"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	not provided +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)	not specified +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 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 989797	NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala)	CAPN3 (E16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 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)	not provided +1 more	GUncertain significance
Select item 92419	NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)	CAPN3 (G21E)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +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 254876	NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)	CAPN3 (H25Y)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy	GBenignFDA Recognized database
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 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 specified +3 more	GBenign/Likely benign
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)	not provided +4 more	GBenign/Likely benign
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 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 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)	not provided +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 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)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GConflicting classifications of pathogenicity
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)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenicFDA Recognized database
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)	not provided +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)	not provided +1 more	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)	not provided +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
Select item 1574551	NM_000070.3(CAPN3):c.201A>G (p.Lys67=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1687386	NM_000070.3(CAPN3):c.202T>C (p.Cys68Arg)	CAPN3 (C68R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2850907	NM_000070.3(CAPN3):c.210A>G (p.Glu70=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 645680	NM_000070.3(CAPN3):c.211A>G (p.Lys71Glu)	CAPN3 (K71E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 1072479	NM_000070.3(CAPN3):c.219del (p.Leu74fs)	CAPN3 (L74fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenicFDA Recognized database
Select item 92411	NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)	CAPN3 (Y75fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenicFDA Recognized database
Select item 2743008	NM_000070.3(CAPN3):c.222T>C (p.Leu74=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 989798	NM_000070.3(CAPN3):c.222T>G (p.Leu74=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2149641	NM_000070.3(CAPN3):c.226G>C (p.Val76Leu)	CAPN3 (V76L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 1449071	NM_000070.3(CAPN3):c.229G>A (p.Asp77Asn)	CAPN3 (D77N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 287449	NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)	CAPN3 (P78T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 285684	NM_000070.3(CAPN3):c.237del (p.Glu79fs)	CAPN3 (E79fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 284131	NM_000070.3(CAPN3):c.239T>C (p.Phe80Ser)	CAPN3 (F80S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 936600	NM_000070.3(CAPN3):c.240C>G (p.Phe80Leu)	CAPN3 (F80L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2018320	NM_000070.3(CAPN3):c.243A>G (p.Pro81=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2704165	NM_000070.3(CAPN3):c.245del (p.Pro82fs)	CAPN3 (P82fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 282783	NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)	CAPN3 (P82L)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 254870	NM_000070.3(CAPN3):c.246G>A (p.Pro82=)	CAPN3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1458707	NM_000070.3(CAPN3):c.261_262del (p.Phe88fs)	CAPN3 (F88fs)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 1160400	NM_000070.3(CAPN3):c.255C>T (p.Thr85=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 1933829	NM_000070.3(CAPN3):c.257del (p.Ser86fs)	CAPN3 (S86fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 284122	NM_000070.3(CAPN3):c.258dup (p.Leu87fs)	CAPN3 (L87fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 17616	NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)	CAPN3 (S86F)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 1144221	NM_000070.3(CAPN3):c.258T>C (p.Ser86=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
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 1457417	NM_000070.3(CAPN3):c.264_265del (p.Phe88fs)	CAPN3 (F88fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic

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