ClinVar for MedGen (Select 358391) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792211.	GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1 GRCh38: Chr15:42349336-42378932	CAPN3, GANC		Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25784582.	NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu) GRCh37: Chr15:42703124 GRCh38: Chr15:42410926	CAPN3	R104L, R257L, R677L, R763L, R769L	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance	no assertion criteria provided
Select item 25723763.	NM_000070.3(CAPN3):c.2439+1G>T GRCh37: Chr15:42703544 GRCh38: Chr15:42411346	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic	criteria provided, single submitter
Select item 25034274.	NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter) GRCh37: Chr15:42689010 GRCh38: Chr15:42396812	CAPN3	W289, W328, W376*	Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 24443035.	NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg) GRCh37: Chr15:42676750 GRCh38: Chr15:42384552	CAPN3	D40N, G127R, G40R	Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24222996.	NC_000015.9:g.(?_42614560)_(42676697_?)del GRCh37: Chr15:42614560-42676697	CAPN3, GANC		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 24222987.	NC_000015.9:g.(?_42686444)_(42697047_?)del GRCh37: Chr15:42686444-42697047	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Sep 16, 2021)	criteria provided, single submitter
Select item 24222978.	NC_000015.9:g.(?_42676671)_(42689085_?)del GRCh37: Chr15:42676671-42689085	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Feb 14, 2022)	criteria provided, single submitter
Select item 24222969.	NC_000015.9:g.(?_42694952)_(42698151_?)del GRCh37: Chr15:42694952-42698151	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Nov 8, 2021)	criteria provided, single submitter
Select item 242229510.	NC_000015.9:g.(?_42691680)_(42703981_?)del GRCh37: Chr15:42691680-42703981	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 242229411.	NC_000015.9:g.(?_42651994)_(42695985_?)del GRCh37: Chr15:42651994-42695985	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 241906312.	NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His) GRCh37: Chr15:42695136 GRCh38: Chr15:42402938	CAPN3	Y49H, Y513H, Y561H	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 220246313.	NM_000070.3(CAPN3):c.814A>G (p.Met272Val) GRCh37: Chr15:42682163 GRCh38: Chr15:42389965	CAPN3	M185V, M272V	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 220208814.	NM_000070.3(CAPN3):c.912C>T (p.Leu304=) GRCh37: Chr15:42682261 GRCh38: Chr15:42390063	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 220105215.	NM_000070.3(CAPN3):c.1098C>A (p.Asn366Lys) GRCh37: Chr15:42686522 GRCh38: Chr15:42394324	CAPN3	N279K, N318K, N366K	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 219952816.	NM_000070.3(CAPN3):c.134C>T (p.Ala45Val) GRCh37: Chr15:42652137 GRCh38: Chr15:42359939	CAPN3	A45V	not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219899817.	NM_000070.3(CAPN3):c.1684G>A (p.Glu562Lys) GRCh37: Chr15:42695139 GRCh38: Chr15:42402941	CAPN3	E50K, E562K, E514K	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 219896218.	NM_000070.3(CAPN3):c.317G>C (p.Cys106Ser) GRCh37: Chr15:42676688 GRCh38: Chr15:42384490	CAPN3	C106S, C19S	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 219858619.	NM_000070.3(CAPN3):c.1783-5_1784del GRCh37: Chr15:42698118-42698124 GRCh38: Chr15:42405920-42405926	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 219784520.	NM_000070.3(CAPN3):c.801+13T>G GRCh37: Chr15:42681307 GRCh38: Chr15:42389109	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 219452721.	NM_000070.3(CAPN3):c.1993-17T>C GRCh37: Chr15:42701968 GRCh38: Chr15:42409770	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 219200122.	NM_000070.3(CAPN3):c.346del (p.Ala116fs) GRCh37: Chr15:42676717 GRCh38: Chr15:42384519	CAPN3	A116fs	Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 219173123.	NM_000070.3(CAPN3):c.2263+5T>C GRCh37: Chr15:42702869 GRCh38: Chr15:42410671	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 219071824.	NM_000070.3(CAPN3):c.1536+1G>T GRCh37: Chr15:42694334 GRCh38: Chr15:42402136	CAPN3	V426L	Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 218971825.	NM_000070.3(CAPN3):c.5C>G (p.Pro2Arg) GRCh37: Chr15:42652008 GRCh38: Chr15:42359810	CAPN3	P2R	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 218333426.	NM_000070.3(CAPN3):c.1355-6G>C GRCh37: Chr15:42693833 GRCh38: Chr15:42401635	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 218053027.	NM_000070.3(CAPN3):c.2380+17_2380+26del GRCh37: Chr15:42703215-42703224 GRCh38: Chr15:42411017-42411026	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 217963328.	NM_000070.3(CAPN3):c.1291G>C (p.Val431Leu) GRCh37: Chr15:42691787 GRCh38: Chr15:42399589	CAPN3	V344L, V383L, V431L	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 217802129.	NM_000070.3(CAPN3):c.1582A>G (p.Asn528Asp) GRCh37: Chr15:42695037 GRCh38: Chr15:42402839	CAPN3	N480D, N528D, N16D	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 217681130.	NM_000070.3(CAPN3):c.1042G>A (p.Gly348Ser) GRCh37: Chr15:42686466 GRCh38: Chr15:42394268	CAPN3	G261S, G348S, G300S	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 217546631.	NM_000070.3(CAPN3):c.1963C>T (p.Arg655Trp) GRCh37: Chr15:42701549 GRCh38: Chr15:42409351	CAPN3	R563W, R655W, R143W, R649W	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 216980832.	NM_000070.3(CAPN3):c.665G>A (p.Gly222Glu) GRCh37: Chr15:42681158 GRCh38: Chr15:42388960	CAPN3	G135E, G222E	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 216431233.	NM_000070.3(CAPN3):c.1524+7A>C GRCh37: Chr15:42694015 GRCh38: Chr15:42401817	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 216306034.	NM_000070.3(CAPN3):c.876G>A (p.Arg292=) GRCh37: Chr15:42682225 GRCh38: Chr15:42390027	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 216158435.	NM_000070.3(CAPN3):c.1104T>G (p.Ser368=) GRCh37: Chr15:42686528 GRCh38: Chr15:42394330	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 216105336.	NM_000070.3(CAPN3):c.1800G>A (p.Lys600=) GRCh37: Chr15:42698141 GRCh38: Chr15:42405943	CAPN3		not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216043637.	NM_000070.3(CAPN3):c.2264-5C>G GRCh37: Chr15:42703077 GRCh38: Chr15:42410879	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 215544438.	NM_000070.3(CAPN3):c.2090G>C (p.Cys697Ser) GRCh37: Chr15:42702168 GRCh38: Chr15:42409970	CAPN3	C691S, C32S, C185S, C605S, C697S	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 215222639.	NM_000070.3(CAPN3):c.1193+1G>A GRCh37: Chr15:42689076 GRCh38: Chr15:42396878	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 215214840.	NM_000070.3(CAPN3):c.1619T>C (p.Met540Thr) GRCh37: Chr15:42695074 GRCh38: Chr15:42402876	CAPN3	M28T, M492T, M540T	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 215170141.	NM_000070.3(CAPN3):c.1801-16_1801-12dup GRCh37: Chr15:42700392-42700393 GRCh38: Chr15:42408194-42408195	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 215170042.	NM_000070.3(CAPN3):c.1611C>T (p.Tyr537=) GRCh37: Chr15:42695066 GRCh38: Chr15:42402868	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 215015143.	NM_000070.3(CAPN3):c.801+15T>C GRCh37: Chr15:42681309 GRCh38: Chr15:42389111	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 214964144.	NM_000070.3(CAPN3):c.226G>C (p.Val76Leu) GRCh37: Chr15:42652229 GRCh38: Chr15:42360031	CAPN3	V76L	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 214949145.	NM_000070.3(CAPN3):c.1997T>C (p.Met666Thr) GRCh37: Chr15:42701989 GRCh38: Chr15:42409791	CAPN3	M1T, M574T, M154T, M666T, M660T	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 214911646.	NM_000070.3(CAPN3):c.705G>A (p.Val235=) GRCh37: Chr15:42681198 GRCh38: Chr15:42389000	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 214870647.	NM_000070.3(CAPN3):c.1834A>C (p.Asn612His) GRCh37: Chr15:42700442 GRCh38: Chr15:42408244	CAPN3	N606H, N100H, N612H	not specified, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (May 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214839948.	NM_000070.3(CAPN3):c.1788G>T (p.Lys596Asn) GRCh37: Chr15:42698129 GRCh38: Chr15:42405931	CAPN3	K596N, K84N	Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214634849.	NM_000070.3(CAPN3):c.1914+11A>T GRCh37: Chr15:42700533 GRCh38: Chr15:42408335	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 214468750.	NM_000070.3(CAPN3):c.982T>C (p.Cys328Arg) GRCh37: Chr15:42684873 GRCh38: Chr15:42392675	CAPN3	C241R, C280R, C328R	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 214158751.	NM_000070.3(CAPN3):c.2185-13T>G GRCh37: Chr15:42702773 GRCh38: Chr15:42410575	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 213953352.	NM_000070.3(CAPN3):c.1355A>G (p.Asp452Gly) GRCh37: Chr15:42693839 GRCh38: Chr15:42401641	CAPN3	D404G, D452G, D365G	not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213765753.	NM_000070.3(CAPN3):c.1823G>A (p.Arg608Lys) GRCh37: Chr15:42700431 GRCh38: Chr15:42408233	CAPN3	R608K, R602K, R96K	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 213765654.	NM_000070.3(CAPN3):c.1354+1G>A GRCh37: Chr15:42691851 GRCh38: Chr15:42399653	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic (Dec 19, 2021)	criteria provided, single submitter
Select item 213765555.	NM_000070.3(CAPN3):c.1322G>A (p.Gly441Asp) GRCh37: Chr15:42691818 GRCh38: Chr15:42399620	CAPN3	G354D, G441D, G393D	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 213765356.	NM_000070.3(CAPN3):c.1058T>C (p.Leu353Pro) GRCh37: Chr15:42686482 GRCh38: Chr15:42394284	CAPN3	L266P, L305P, L353P	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 213765057.	NM_000070.3(CAPN3):c.107del (p.Gly36fs) GRCh37: Chr15:42652106 GRCh38: Chr15:42359908	CAPN3	G36fs	Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 213699158.	NM_000070.3(CAPN3):c.1915-12G>A GRCh37: Chr15:42701489 GRCh38: Chr15:42409291	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 213432759.	NM_000070.3(CAPN3):c.496del (p.Gln166fs) GRCh37: Chr15:42678480 GRCh38: Chr15:42386282	CAPN3, LOC126862115	Q166fs	Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 213342660.	NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter) GRCh37: Chr15:42695007 GRCh38: Chr15:42402809	CAPN3	Q470, Q518, Q6*	Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 213011461.	NM_000070.3(CAPN3):c.1986del (p.Gly663fs) GRCh37: Chr15:42701572 GRCh38: Chr15:42409374	CAPN3	G151fs, G657fs, G571fs, G663fs	Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 212949162.	NM_000070.3(CAPN3):c.2328C>T (p.Asn776=) GRCh37: Chr15:42703146 GRCh38: Chr15:42410948	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 212541063.	NM_000070.3(CAPN3):c.892C>T (p.Leu298=) GRCh37: Chr15:42682241 GRCh38: Chr15:42390043	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 211977764.	NM_000070.3(CAPN3):c.1800+5GT[2] GRCh37: Chr15:42698146-42698147 GRCh38: Chr15:42405948-42405949	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 211465565.	NM_000070.3(CAPN3):c.108T>A (p.Gly36=) GRCh37: Chr15:42652111 GRCh38: Chr15:42359913	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 211386466.	NM_000070.3(CAPN3):c.916C>T (p.Pro306Ser) GRCh37: Chr15:42682265 GRCh38: Chr15:42390067	CAPN3	P219S, P306S	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211375067.	NM_000070.3(CAPN3):c.2295C>A (p.Ile765=) GRCh37: Chr15:42703113 GRCh38: Chr15:42410915	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 211211768.	NM_000070.3(CAPN3):c.2264-5C>T GRCh37: Chr15:42703077 GRCh38: Chr15:42410879	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 210992969.	NM_000070.3(CAPN3):c.712T>A (p.Phe238Ile) GRCh37: Chr15:42681205 GRCh38: Chr15:42389007	CAPN3	F238I, F151I	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 210976170.	NM_000070.3(CAPN3):c.2116-1G>C GRCh37: Chr15:42702625 GRCh38: Chr15:42410427	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 210765971.	NM_000070.3(CAPN3):c.2381-5C>T GRCh37: Chr15:42703480 GRCh38: Chr15:42411282	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 210706472.	NM_000070.3(CAPN3):c.396C>G (p.Leu132=) GRCh37: Chr15:42678381 GRCh38: Chr15:42386183	CAPN3, LOC126862115		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 210553373.	NM_000070.3(CAPN3):c.802-1G>A GRCh37: Chr15:42682150 GRCh38: Chr15:42389952	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 210473074.	NM_000070.3(CAPN3):c.2115+5C>G GRCh37: Chr15:42702198 GRCh38: Chr15:42410000	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 210472975.	NM_000070.3(CAPN3):c.1631C>T (p.Ser544Phe) GRCh37: Chr15:42695086 GRCh38: Chr15:42402888	CAPN3	S496F, S544F, S32F	not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210398576.	NM_000070.3(CAPN3):c.735_741del (p.Ser246fs) GRCh37: Chr15:42681227-42681233 GRCh38: Chr15:42389029-42389035	CAPN3	S246fs	Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 209886677.	NM_000070.3(CAPN3):c.2314G>A (p.Asp772Asn) GRCh37: Chr15:42703132 GRCh38: Chr15:42410934	CAPN3	D107N, D260N, D680N, D766N, D772N	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 209886578.	NM_000070.3(CAPN3):c.2096G>A (p.Ser699Asn) GRCh37: Chr15:42702174 GRCh38: Chr15:42409976	CAPN3	S699N, S187N, S607N, S693N, S34N	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 209886479.	NM_000070.3(CAPN3):c.380-1G>A GRCh37: Chr15:42678364 GRCh38: Chr15:42386166	CAPN3, LOC126862115		Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Jul 2, 2022)	criteria provided, single submitter
Select item 209886380.	NM_000070.3(CAPN3):c.380-2A>G GRCh37: Chr15:42678363 GRCh38: Chr15:42386165	CAPN3, LOC126862115		Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 209811481.	NM_000070.3(CAPN3):c.1055del (p.Lys352fs) GRCh37: Chr15:42686478 GRCh38: Chr15:42394280	CAPN3	K304fs, K352fs	Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 209796982.	NM_000070.3(CAPN3):c.1485A>G (p.Leu495=) GRCh37: Chr15:42693969 GRCh38: Chr15:42401771	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 209649283.	NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter) GRCh37: Chr15:42700511 GRCh38: Chr15:42408313	CAPN3	Q123, Q635, Q629*	Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 209041684.	NM_000070.3(CAPN3):c.379+1G>A GRCh37: Chr15:42676751 GRCh38: Chr15:42384553	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 208477885.	NM_000070.3(CAPN3):c.633-5C>T GRCh37: Chr15:42681121 GRCh38: Chr15:42388923	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 208426586.	NM_000070.3(CAPN3):c.1536+17G>A GRCh37: Chr15:42694350 GRCh38: Chr15:42402152	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 208307187.	NM_000070.3(CAPN3):c.1783-4G>A GRCh37: Chr15:42698120 GRCh38: Chr15:42405922	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 208161288.	NM_000070.3(CAPN3):c.1344C>T (p.Arg448=) GRCh37: Chr15:42691840 GRCh38: Chr15:42399642	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 207811189.	NM_000070.3(CAPN3):c.784A>T (p.Met262Leu) GRCh37: Chr15:42681277 GRCh38: Chr15:42389079	CAPN3	M175L, M262L	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 207743090.	NM_000070.3(CAPN3):c.427del (p.His143fs) GRCh37: Chr15:42678412 GRCh38: Chr15:42386214	CAPN3, LOC126862115	H143fs	Autosomal recessive limb-girdle muscular dystrophy type 2A	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 207669891.	NM_000070.3(CAPN3):c.480A>G (p.Ala160=) GRCh37: Chr15:42678465 GRCh38: Chr15:42386267	CAPN3, LOC126862115		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 207399492.	NM_000070.3(CAPN3):c.1745+3G>C GRCh37: Chr15:42695203 GRCh38: Chr15:42403005	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 207310293.	NM_000070.3(CAPN3):c.600C>T (p.Phe200=) GRCh37: Chr15:42680052 GRCh38: Chr15:42387854	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 207032194.	NM_000070.3(CAPN3):c.433C>T (p.Leu145Phe) GRCh37: Chr15:42678418 GRCh38: Chr15:42386220	CAPN3, LOC126862115	L145F, L58F	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 206790095.	NM_000070.3(CAPN3):c.2115+15G>A GRCh37: Chr15:42702208 GRCh38: Chr15:42410010	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 206199696.	NM_000070.3(CAPN3):c.1953G>A (p.Gln651=) GRCh37: Chr15:42701539 GRCh38: Chr15:42409341	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 205864397.	NM_000070.3(CAPN3):c.1775G>A (p.Arg592Gln) GRCh37: Chr15:42695968 GRCh38: Chr15:42403770	CAPN3	R80Q, R592Q, R544Q	Autosomal recessive limb-girdle muscular dystrophy type 2A	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 205653098.	NM_000070.3(CAPN3):c.2440-10CTT[3] GRCh37: Chr15:42703934-42703935 GRCh38: Chr15:42411736-42411737	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 205590299.	NM_000070.3(CAPN3):c.1239C>T (p.Ile413=) GRCh37: Chr15:42691735 GRCh38: Chr15:42399537	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 2054412100.	NM_000070.3(CAPN3):c.1761C>T (p.Thr587=) GRCh37: Chr15:42695954 GRCh38: Chr15:42403756	CAPN3		Autosomal recessive limb-girdle muscular dystrophy type 2A	Likely benign (Feb 21, 2022)	criteria provided, single submitter

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