MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152)
Parent Node: qualitative or quantitative defects of calpain (MONDO:0016152)
..Starting node ..autosomal recessive limb-girdle muscular dystrophy type 2A ()
Child Nodes:
Sister Nodes:
..autosomal recessive limb-girdle muscular dystrophy type 2A ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9675

Name:

autosomal recessive limb-girdle muscular dystrophy type 2A

Definition:

Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.

Alternative IDs:

253600

ParentIDs:

TreeNumbers:

Synonyms:

autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3; calpainopathy; CAPN3 autosomal recessive limb-girdle muscular dystrophy; Leyden-Moebius muscular dystrophy; LGMD2; LGMD2A; limb-girdle muscular dystrophy due to calpain deficiency; limb-girdle muscular dystrophy type 2;

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 253600;
MSeqDR :
Genes: CAPN3; PQBP1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002312	Clumsiness
3	HP:0002355	Difficulty walking
4	HP:0003236	Elevated serum creatine phosphokinase
5	HP:0001880	Eosinophilia
6	HP:0010628	Facial palsy	HP:0040283
7	HP:0001371	Flexion contracture
8	HP:0003560	Muscular dystrophy NAMDC: Likely HP:0003560 Muscular dystrophy
9	HP:0007126	Proximal amyotrophy
10	HP:0003691	Scapular winging

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000070.3(CAPN3):c.59del (p.Pro20fs)	825	CAPN3	Pathogenic/Likely pathogenic	1555417271	RCV000666074\|RCV003459576;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652059	42652059	15:g.42652059_42652059del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)	825	CAPN3	Pathogenic/Likely pathogenic	774048743	RCV000201177\|RCV000762947\|RCV001781585\|RCV003235123\|RCV003462346;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|M	15	42652136	42652136	15:g.42652136G>A	ClinGen:CA347575	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)	825	CAPN3	Pathogenic/Likely pathogenic	794726871	RCV000173055\|RCV000710093\|RCV003114322\|RCV003462272;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652148	42652148	15:g.42652148C>T	ClinGen:CA346852	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)	825	CAPN3	Pathogenic/Likely pathogenic	863224958	RCV000201045\|RCV001781586\|RCV001814106\|RCV003330572\|RCV003474971;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Or	15	42652149	42652149	NC_000015.9:g.42652149G>A	ClinGen:CA347493	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)	825	CAPN3	Pathogenic/Likely pathogenic	886042478	RCV000311426\|RCV000489536\|RCV003475897;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652248	42652248	15:g.42652248C>T	ClinGen:CA10604293	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.258dup (p.Leu87fs)	825	CAPN3	Pathogenic/Likely pathogenic	753360208	RCV000498857\|RCV000809165\|RCV003475904;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652260	42652261	NC_000015.9:g.42652261dup	ClinGen:CA7510881
NM_000070.3(CAPN3):c.382del	825	CAPN3	Pathogenic/Likely pathogenic	2141160425	RCV001994476\|RCV003136369;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42678364	42678364	42678363	-
NM_000070.3(CAPN3):c.402del (p.Ile135fs)	825	CAPN3	Pathogenic/Likely pathogenic	746935735	RCV000310267\|RCV000725864;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42678386	42678386	15:g.42678386_42678386del	ClinGen:CA7511009	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)	825	CAPN3	Pathogenic/Likely pathogenic	1555420462	RCV000593032\|RCV000726798\|RCV003459465;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42679955	42679955	15:g.42679955G>A	ClinGen:CA391997748	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)	825	CAPN3	Pathogenic/Likely pathogenic	2053442769	RCV001046209;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679971	42679971	15:g.42679971G>A	-
NM_000070.3(CAPN3):c.580del (p.Ser194fs)	825	CAPN3	Pathogenic/Likely pathogenic	398123149	RCV000178032\|RCV000790823\|RCV003460740;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42680032	42680032	NC_000015.9:g.42680032del	ClinGen:CA220353	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.616del (p.Glu206fs)	825	CAPN3	Pathogenic/Likely pathogenic	2053446296	RCV001784077\|RCV002544279\|RCV003475093;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42680067	42680067	42680066	-
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)	825	CAPN3	Pathogenic/Likely pathogenic	773001194	RCV000323826\|RCV001068856\|RCV003463771;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42681142	42681142	15:g.42681142G>A	ClinGen:CA7511092,UniProtKB:P20807#VAR_009563	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)	825	CAPN3	Pathogenic/Likely pathogenic	1345121557	RCV000672914\|RCV001332162\|RCV001784277\|RCV002499184;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42681157	42681157	15:g.42681157G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)	825	CAPN3	Pathogenic/Likely pathogenic	1555420634	RCV000593803\|RCV000727400;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42681194	42681194	15:g.42681194G>A	ClinGen:CA16609628	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.717del (p.Phe239fs)	825	CAPN3	Pathogenic/Likely pathogenic	776059672	RCV000365092\|RCV000725535\|RCV001814147;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745	15	42681205	42681205	15:g.42681205_42681205del	ClinGen:CA7511095	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)	825	CAPN3	Pathogenic/Likely pathogenic	1555420642	RCV000644986\|RCV003459541;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42681220	42681223	NC_000015.9:g.42681220_42681223delinsAT	ClinGen:CA658798310	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.741_751del (p.Met248fs)	825	CAPN3	Pathogenic/Likely pathogenic	1555420647	RCV000671049;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681232	42681242	15:g.42681232_42681242del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.742_743del (p.Met248fs)	825	CAPN3	Pathogenic/Likely pathogenic	1064793620	RCV000482838\|RCV000821006;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681235	42681236	NC_000015.9:g.42681235_42681236del	ClinGen:CA16619926	CN517202 not provided;
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)	825	CAPN3	Pathogenic/Likely pathogenic	794727697	RCV000178708\|RCV000412949\|RCV002252023\|RCV003474934;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42681249	42681251	15:g.42681249_42681251del	ClinGen:CA346886	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)	825	CAPN3	Pathogenic/Likely pathogenic	2053484604	RCV001263856;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681265	42681265	15:g.42681265A>T	-
NM_000070.3(CAPN3):c.853dup (p.Glu285fs)	825	CAPN3	Pathogenic/Likely pathogenic	761257703	RCV000370459\|RCV001859722\|RCV003463779;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42682197	42682198	15:g.42682197_42682198insG	ClinGen:CA10606892	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)	825	CAPN3	Pathogenic/Likely pathogenic	1555420765	RCV000671506\|RCV001731876\|RCV003459626;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42682197	42682197	15:g.42682197T>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)	825	CAPN3	Pathogenic/Likely pathogenic	528417986	RCV000340129\|RCV000490012\|RCV001814143\|RCV002271482\|RCV003475896;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Or	15	42682214	42682214	15:g.42682214C>T	ClinGen:CA7511150	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)	825	CAPN3	Pathogenic/Likely pathogenic	863224966	RCV000201036\|RCV000483993\|RCV003462351;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42682232	42682235	NC_000015.9:g.42682232_42682235delinsCTT	ClinGen:CA347485	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.946-1_948del	825	CAPN3	Pathogenic/Likely pathogenic	766156798	RCV000592803\|RCV000725572;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42684833	42684836	NC_000015.9:g.42684836_42684839del	ClinGen:CA7511198
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)	825	CAPN3	Pathogenic/Likely pathogenic	121434547	RCV000019183\|RCV000417420\|RCV003473107;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42684847	42684847	15:g.42684847C>T	ClinGen:CA341474,UniProtKB:P20807#VAR_009569,OMIM:114240.0005	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)	825	CAPN3	Pathogenic/Likely pathogenic	766334893	RCV000591954\|RCV000627356\|RCV003459462;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42684918	42684918	15:g.42684918G>T	ClinGen:CA7511222	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1030-1G>A	825	CAPN3	Pathogenic/Likely pathogenic	1555421263	RCV000672816;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686453	42686453	15:g.42686453G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)	825	CAPN3	Pathogenic/Likely pathogenic	749099493	RCV000389096\|RCV000711013\|RCV003463741;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42686487	42686487	15:g.42686487C>T	ClinGen:CA7511239	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	825	CAPN3	Pathogenic/Likely pathogenic	200646556	RCV000340100\|RCV000724905\|RCV001814141\|RCV002502096\|RCV002509343\|RCV003475890;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600,Orph	15	42691746	42691746	15:g.42691746C>T	ClinGen:CA7511300	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs)	825	CAPN3	Pathogenic/Likely pathogenic	1555421854	RCV000668771\|RCV003459602;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691772	42691773	15:g.42691772_42691773del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)	825	CAPN3	Pathogenic/Likely pathogenic	1293496023	RCV000673908\|RCV001784288\|RCV003472162;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691792	42691793	15:g.42691792_42691793del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	825	CAPN3	Pathogenic/Likely pathogenic	149914792	RCV000440492\|RCV000820741\|RCV001775111\|RCV002480004\|RCV003475891;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|Human Phenotype Ontology:HP:0006785,Human Phenotype Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353, Orphanet:263\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600,Orphane	15	42691799	42691799	NC_000015.9:g.42691799G>A	ClinGen:CA7511313	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)	825	CAPN3	Pathogenic/Likely pathogenic	777483913	RCV000345099\|RCV000725670\|RCV003463759;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691805	42691805	15:g.42691805C>T	ClinGen:CA7511316,UniProtKB:P20807#VAR_009573	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)	825	CAPN3	Pathogenic/Likely pathogenic	777323132	RCV000269452\|RCV000725372\|RCV001814145\|RCV003475903;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691814	42691814	15:g.42691814C>T	ClinGen:CA7511318,UniProtKB:P20807#VAR_009574	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	825	CAPN3	Pathogenic/Likely pathogenic	773827877	RCV000405059\|RCV000725472\|RCV002282104\|RCV003475905;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691829	42691829	15:g.42691829G>A	ClinGen:CA7511320,UniProtKB:P20807#VAR_009576	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)	825	CAPN3	Pathogenic/Likely pathogenic	773827877	RCV000732092\|RCV001855673;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691829	42691829	NC_000015.9:g.42691829G>C	-
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)	825	CAPN3	Pathogenic/Likely pathogenic	776043976	RCV000669159\|RCV003472111;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691838	42691838	15:g.42691838C>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1354+1G>A	825	CAPN3	Pathogenic/Likely pathogenic	-1	RCV003058459\|RCV003459731;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691851	42691851	NC_000015.9:g.42691851G>A	-
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)	825	CAPN3	Pathogenic/Likely pathogenic	1274808359	RCV000592929\|RCV000727349\|RCV003235305\|RCV003471960;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42693865	42693865	15:g.42693865C>T	ClinGen:CA391999721	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)	825	CAPN3	Pathogenic/Likely pathogenic	746075428	RCV000669378\|RCV003140065\|RCV003235338\|RCV003472115;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42693879	42693881	15:g.42693879_42693881del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)	825	CAPN3	Pathogenic/Likely pathogenic	201736037	RCV000280277\|RCV000790779\|RCV002271401\|RCV002498373\|RCV003474672;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|M	15	42693919	42693919	NC_000015.9:g.42693919A>G	ClinGen:CA220341,UniProtKB:P20807#VAR_009580	CN239245 CAPN3-Related Disorders;
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	825	CAPN3	Pathogenic/Likely pathogenic	147764579	RCV000350336\|RCV000517354\|RCV002504018\|RCV002509353\|RCV003401270\|RCV003475920;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|\|	15	42693950	42693950	15:g.42693950G>A	ClinGen:CA7511363,UniProtKB:P20807#VAR_009582	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	825	CAPN3	Pathogenic/Likely pathogenic	141656719	RCV000152924\|RCV000173975\|RCV000762950\|RCV001332159\|RCV001813761\|RCV003407573;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MedGen:CN239245\|	15	42693952	42693952	15:g.42693952C>T	ClinGen:CA233621,UniProtKB:P20807#VAR_001367	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)	825	CAPN3	Pathogenic/Likely pathogenic	557164942	RCV000173976\|RCV000201107\|RCV003462275;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42693961	42693961	15:g.42693961C>T	ClinGen:CA239448,UniProtKB:P20807#VAR_009585	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1485del (p.Ala497fs)	825	CAPN3	Pathogenic/Likely pathogenic	1595837172	RCV000995301\|RCV002550676;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693969	42693969	15:g.42693969_42693969del	-
NM_000070.3(CAPN3):c.1524+1G>A	825	CAPN3	Pathogenic/Likely pathogenic	1275289254	RCV000644980\|RCV003459540;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42694009	42694009	15:g.42694009G>A	ClinGen:CA392000015	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	825	CAPN3	Pathogenic/Likely pathogenic	398123143	RCV000338313\|RCV000790834\|RCV003474673;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42695077	42695077	NC_000015.9:g.42695077G>A	ClinGen:CA220342,UniProtKB:P20807#VAR_009588	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)	825	CAPN3	Pathogenic/Likely pathogenic	767739787	RCV000668383\|RCV001584540\|RCV001814213\|RCV003459596;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42695112	42695112	15:g.42695112G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1722del (p.Ser575fs)	825	CAPN3	Pathogenic/Likely pathogenic	1366387924	RCV000599177\|RCV000796843;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695177	42695177	NC_000015.9:g.42695177del	ClinGen:CA618001554	CN517202 not provided;
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)	825	CAPN3	Pathogenic/Likely pathogenic	886042573	RCV000283334\|RCV000725225;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42695198	42695199	15:g.42695198_42695199del	ClinGen:CA10604416	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)	825	CAPN3	Pathogenic/Likely pathogenic	199806879	RCV000354372\|RCV000763349\|RCV000727197\|RCV003330627\|RCV003475918;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|M	15	42700425	42700425	15:g.42700425C>T	ClinGen:CA7511567,UniProtKB:P20807#VAR_009591	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)	825	CAPN3	Pathogenic/Likely pathogenic	1595844413	RCV001004976\|RCV003461311;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42700505	42700505	15:g.42700505C>T	-
NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)	825	CAPN3	Pathogenic/Likely pathogenic	-1	RCV003016212\|RCV003459697;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42700511	42700511	NC_000015.9:g.42700511C>T	-
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)	825	CAPN3	Pathogenic/Likely pathogenic	1566984441	RCV000754720;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701548	42701548	NC_000015.9:g.42701549del	-
NM_000070.3(CAPN3):c.1993-1G>A	825	CAPN3	Pathogenic/Likely pathogenic	369552114	RCV000382987\|RCV000420333\|RCV000763350\|RCV003475894;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42701984	42701984	15:g.42701984G>A	ClinGen:CA7511659	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2050+1del	825	CAPN3	Pathogenic/Likely pathogenic	1555423027	RCV000673760\|RCV003133500;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42702043	42702043	15:g.42702043_42702043del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)	825	CAPN3	Pathogenic/Likely pathogenic	886042557	RCV000311834\|RCV000725206\|RCV003475900;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702183	42702183	15:g.42702183C>T	ClinGen:CA10604398,UniProtKB:P20807#VAR_009594	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	825	CAPN3	Pathogenic/Likely pathogenic	200379491	RCV000542626\|RCV000723534\|RCV002476173\|RCV003431092\|RCV003476296;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702630	42702630	NC_000015.9:g.42702630A>G	ClinGen:CA7511744	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)	825	CAPN3	Pathogenic/Likely pathogenic	794727318	RCV000597464\|RCV000798205\|RCV003462280;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702644	42702644	NC_000015.9:g.42702644C>T	ClinGen:CA241878	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)	825	CAPN3	Pathogenic/Likely pathogenic	774048414	RCV001053864\|RCV003462561;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702672	42702672	15:g.42702672G>A	-
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)	825	CAPN3	Pathogenic/Likely pathogenic	2054179951	RCV001264018;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702673	42702673	15:g.42702673G>A	-
NM_000070.3(CAPN3):c.2185-2A>G	825	CAPN3	Pathogenic/Likely pathogenic	886041335	RCV000343664\|RCV000593825\|RCV003463736;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702784	42702784	15:g.42702784A>G	ClinGen:CA501130	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2201del (p.Tyr734fs)	825	CAPN3	Pathogenic/Likely pathogenic	2141224217	RCV001936391\|RCV003475182;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702802	42702802	42702801	-
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)	825	CAPN3	Pathogenic/Likely pathogenic	587780289	RCV000116541\|RCV002272130;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42702805	42702806	15:g.42702805_42702806del	ClinGen:CA345535	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)	825	CAPN3	Pathogenic/Likely pathogenic	1595847257	RCV001004959;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702813	42702813	15:g.42702813C>T	-
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	825	CAPN3	Pathogenic/Likely pathogenic	587780290	RCV000116542\|RCV000489478\|RCV001814062\|RCV003474720;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702844	42702844	15:g.42702844G>A	ClinGen:CA345536,UniProtKB:P20807#VAR_009598	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)	825	CAPN3	Pathogenic/Likely pathogenic	775130589	RCV000399324\|RCV000790763\|RCV003401267;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|	15	42703095	42703096	NC_000015.9:g.42703097dup	ClinGen:CA7511816	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)	825	CAPN3	Pathogenic/Likely pathogenic	764459544	RCV000301610\|RCV000725121\|RCV003226273\|RCV003463744;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703106	42703106	15:g.42703106A>G	ClinGen:CA7511820	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2290del (p.Asp764fs)	825	CAPN3	Pathogenic/Likely pathogenic	886044527	RCV000594511\|RCV000726531;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42703108	42703108	15:g.42703108_42703108del	ClinGen:CA10606870	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)	825	CAPN3	Pathogenic/Likely pathogenic	868791726	RCV000295812\|RCV000711016\|RCV001420333\|RCV003323488\|RCV003475893;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703123	42703123	15:g.42703123C>T	ClinGen:CA10604167	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)	825	CAPN3	Pathogenic/Likely pathogenic	1447774727	RCV000675004;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703152	42703153	15:g.42703152_42703153insT	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2380+1G>T	825	CAPN3	Pathogenic/Likely pathogenic	1555423222	RCV000671146\|RCV003472135;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703199	42703199	15:g.42703199G>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2381-2A>G	825	CAPN3	Pathogenic/Likely pathogenic	863224962	RCV000201091\|RCV003462347;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703483	42703483	NC_000015.9:g.42703483A>G	ClinGen:CA347520	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)	825	CAPN3	Pathogenic/Likely pathogenic	149095128	RCV000078095\|RCV000201145\|RCV001804832\|RCV002504988\|RCV003474674;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|M	15	42703497	42703497	15:g.42703497C>A	ClinGen:CA220348,UniProtKB:P20807#VAR_009600	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2440-1G>A	825	CAPN3	Pathogenic/Likely pathogenic	886044052	RCV000595361\|RCV000726259\|RCV003475916;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703944	42703944	15:g.42703944G>A	ClinGen:CA10606282	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NC_000015.9:g.(?_42650583)_(42687745_?)del	825	CAPN3	Pathogenic	-1	RCV001963239;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42650583	42687745	-1	-
NC_000015.10:g.(?_42359500)_(42412317_?)del	825	CAPN3	Pathogenic	-1	RCV000560908;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42651698	42704515		-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NC_000015.10:g.(?_42359796)_(42360124_?)del	825	CAPN3	Pathogenic	-1	RCV000794131;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42651994	42652322		-
NC_000015.10:g.(?_42359796)_(42399662_?)del	825	CAPN3	Pathogenic	-1	RCV000802573;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42651994	42691860		-
NC_000015.10:g.(?_42359796)_(42411783_?)del	825	CAPN3	Pathogenic	-1	RCV000812003;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42651994	42703981		-
NC_000015.9:g.(?_42651994)_(42695985_?)del	825	CAPN3	Pathogenic	-1	RCV003119241;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42651994	42695985		-
NM_000070.3(CAPN3):c.1A>G (p.Met1Val)	825	CAPN3	Pathogenic	1566965796	RCV002002571;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652004	42652004	42652004	-
NC_000015.9:g.(?_42652004)_(42703563_?)del	825	CAPN3	Pathogenic	-1	RCV001951433;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652004	42703563	-1	-
NM_000070.3(CAPN3):c.2del (p.Met1fs)	825	CAPN3	Pathogenic	1566965806	RCV000689673;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652005	42652005	NC_000015.9:g.42652005del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)	825	CAPN3	Pathogenic	-1	RCV002881476;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652006	42652006	NC_000015.9:g.42652006G>T	-
NM_000070.3(CAPN3):c.60del (p.Pro22fs)	825	CAPN3	Pathogenic	1566965857	RCV001380972\|RCV003462970;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652063	42652063	42652062	-
NM_000070.3(CAPN3):c.100del (p.Ala34fs)	825	CAPN3	Pathogenic	2052593499	RCV001068127\|RCV003462607;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652102	42652102	15:g.42652102_42652102del	-
NM_000070.3(CAPN3):c.107del (p.Gly36fs)	825	CAPN3	Pathogenic	-1	RCV003064248;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652106	42652106	NC_000015.9:g.42652110del	-
NM_000070.3(CAPN3):c.193del (p.His65fs)	825	CAPN3	Pathogenic	2141102601	RCV001877023;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652196	42652196	42652195	-
NM_000070.3(CAPN3):c.219del (p.Leu74fs)	825	CAPN3	Pathogenic	2141102673	RCV001385208;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652221	42652221	42652220	-
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)	825	CAPN3	Pathogenic	398123146	RCV000173057\|RCV000790766\|RCV003460739;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652223	42652224	NC_000015.9:g.42652226dup	ClinGen:CA220346,ClinVar:424824	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.237del (p.Glu79fs)	825	CAPN3	Pathogenic	760205277	RCV000380102\|RCV002518971;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652240	42652240	15:g.42652240_42652240del	ClinGen:CA7510876	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.261_262del (p.Phe88fs)	825	CAPN3	Pathogenic	763649825	RCV001956510;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652258	42652259	42652257	-
NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)	825	CAPN3	Pathogenic	121434546	RCV000019182;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652260	42652260	15:g.42652260C>T	ClinGen:CA341473,UniProtKB:P20807#VAR_009551,OMIM:114240.0004	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.257del (p.Ser86fs)	825	CAPN3	Pathogenic	-1	RCV002627252;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652260	42652260	NC_000015.9:g.42652260del	-
NM_000070.3(CAPN3):c.264_265del (p.Phe88fs)	825	CAPN3	Pathogenic	2141102811	RCV001953741;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652265	42652266	42652264	-
NM_000070.3(CAPN3):c.286C>T (p.Gln96Ter)	825	CAPN3	Pathogenic	1476836379	RCV001389563;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652289	42652289	42652289	-
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)	825	CAPN3	Pathogenic	758058910	RCV000660877;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652294	42652294	NC_000015.9:g.42652294C>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NC_000015.9:g.(?_42676661)_(42684940_?)del	825	CAPN3	Pathogenic	-1	RCV002035418;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676661	42684940	-1	-
NC_000015.9:g.(?_42676661)_(42686559_?)del	825	CAPN3	Pathogenic	-1	RCV001956448;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676661	42686559	-1	-
NC_000015.10:g.(?_42384473)_(42390106_?)del	825	CAPN3	Pathogenic	-1	RCV001033809;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676671	42682304	-1	-
NC_000015.10:g.(?_42384473)_(42392732_?)del	825	CAPN3	Pathogenic	-1	RCV001032579;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676671	42684930	-1	-
NC_000015.10:g.(?_42384473)_(42394351_?)del	825	CAPN3	Pathogenic	-1	RCV001032814;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676671	42686549	-1	-
NC_000015.9:g.(?_42676671)_(42689085_?)del	825	CAPN3	Pathogenic	-1	RCV003119244;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676671	42689085		-
NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter)	825	CAPN3	Pathogenic	1801505	RCV000370685\|RCV001052904;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676690	42676690	NC_000015.9:g.42676690G>T	ClinGen:CA358285,ClinVar:424767	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs)	825	CAPN3	Pathogenic	1555420075	RCV000518731\|RCV001243276;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676692	42676693	NC_000015.9:g.42676693_42676705dup	ClinGen:CA658658284	CN517202 not provided;
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)	825	CAPN3	Pathogenic	797045427	RCV000192648\|RCV000790660\|RCV003462299;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42676695	42676696	NC_000015.9:g.42676698_42676699dup	ClinGen:CA347357	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	825	CAPN3	Pathogenic	121434545	RCV000019181\|RCV001813749;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42676699	42676699	15:g.42676699C>T	ClinGen:CA341471,OMIM:114240.0003	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.346del (p.Ala116fs)	825	CAPN3	Pathogenic	-1	RCV002620891;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676717	42676717	NC_000015.9:g.42676717del	-
NM_000070.3(CAPN3):c.380-2A>G	825	CAPN3	Pathogenic	-1	RCV003019323;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678363	42678363	NC_000015.9:g.42678363A>G	-
NM_000070.3(CAPN3):c.380-1G>A	825	CAPN3	Pathogenic	-1	RCV003031151;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678364	42678364	NC_000015.9:g.42678364G>A	-
NM_000070.3(CAPN3):c.389G>A (p.Trp130Ter)	825	CAPN3	Pathogenic	2141160443	RCV001380498;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678374	42678374	42678374	-
NM_000070.3(CAPN3):c.390del (p.Trp130fs)	825	CAPN3	Pathogenic	-1	RCV002853032;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678374	42678374	NC_000015.9:g.42678375del	-
NM_000070.3(CAPN3):c.412dup (p.Leu138fs)	825	CAPN3	Pathogenic	2141160513	RCV001390977;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678395	42678396	42678395	-
NM_000070.3(CAPN3):c.427del (p.His143fs)	825	CAPN3	Pathogenic	-1	RCV002976490;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678412	42678412	NC_000015.9:g.42678412del	-
NM_000070.3(CAPN3):c.433del (p.Leu145fs)	825	CAPN3	Pathogenic	2141160577	RCV001380448;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678418	42678418	42678417	-
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)	825	CAPN3	Pathogenic	878854364	RCV000337512\|RCV000762948\|RCV001854838\|RCV003475835;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42678424	42678424	NC_000015.9:g.42678424C>T	ClinGen:CA10602399,ClinVar:424824	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.444del (p.Ile149fs)	825	CAPN3	Pathogenic	2053401167	RCV001039424;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678429	42678429	15:g.42678429_42678429del	-
NM_000070.3(CAPN3):c.483del (p.Ile162fs)	825	CAPN3	Pathogenic	863224963	RCV000201022\|RCV001004958\|RCV003462348;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42678466	42678466	15:g.42678466_42678466del	ClinGen:CA347477	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.496del (p.Gln166fs)	825	CAPN3	Pathogenic	-1	RCV003058091;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678480	42678480	NC_000015.9:g.42678481del	-
NM_000070.3(CAPN3):c.498+1G>A	825	CAPN3	Pathogenic	2141160881	RCV001949581;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678484	42678484	42678484	-
NM_000070.3(CAPN3):c.499-1G>A	825	CAPN3	Pathogenic	863224964	RCV000201080\|RCV003462349;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42679950	42679950	15:g.42679950G>A	ClinGen:CA347510	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.509dup (p.Tyr170Ter)	825	CAPN3	Pathogenic	1595821204	RCV000809466;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679960	42679961	15:g.42679960_42679961insA	-
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)	825	CAPN3	Pathogenic	1555420475	RCV000509589;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679970	42679970	NC_000015.9:g.42679970G>A	ClinGen:CA391997785	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	825	CAPN3	Pathogenic	80338800	RCV000019188\|RCV000078099\|RCV000348995\|RCV000415344\|RCV000414969\|RCV000415373\|RCV000415100\|RCV000626574\|RCV000626575\|RCV000626577\|RCV000626576\|RCV001197255\|RCV001420332\|RCV001849271\|RCV002496413;	Y	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MedGen:CN239352\|Human Phenotype Ontology:HP:0002987,Human Phenotype Ontology:HP:0003937,Human Phenotype Ontology:HP:0004984,Human Phenotype Ontology:HP:0005654,MedGen:C0409338;	15	42680001	42680001	15:g.42680001_42680001del	ClinGen:CA220352,OMIM:114240.0009	C0558845 Absent Achilles reflex;
NM_000070.3(CAPN3):c.562del (p.Gln188fs)	825	CAPN3	Pathogenic	1566975090	RCV001065953\|RCV001784621;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42680014	42680014	15:g.42680014_42680014del	-
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	825	CAPN3	Pathogenic	727503837	RCV000152920\|RCV000516177\|RCV003474804;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42680049	42680063	15:g.42680049_42680063del	ClinGen:CA346121	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.626dup (p.Tyr209Ter)	825	CAPN3	Pathogenic	-1	RCV002835059;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680077	42680078	NC_000015.9:g.42680078dup	-
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	825	CAPN3	Pathogenic	863224965	RCV000201156\|RCV000379696\|RCV000681607;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42681133	42681153	15:g.42681133_42681153del	ClinGen:CA347563,OMIM:114240.0011	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.648C>G (p.Tyr216Ter)	825	CAPN3	Pathogenic	138846390	RCV001888198;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681141	42681141	42681141	-
NM_000070.3(CAPN3):c.717dup (p.Glu240Ter)	825	CAPN3	Pathogenic	776059672	RCV000728302\|RCV002535067;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681204	42681205	NC_000015.9:g.42681210dup	-
NM_000070.3(CAPN3):c.735_741del (p.Ser246fs)	825	CAPN3	Pathogenic	-1	RCV003041567;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681227	42681233	NC_000015.9:g.42681228_42681234del	-
NM_000070.3(CAPN3):c.743T>G (p.Met248Arg)	825	CAPN3	Pathogenic	777829958	RCV001784072\|RCV002034610;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681236	42681236	42681236	-
NM_000070.3(CAPN3):c.796del (p.Ile266fs)	825	CAPN3	Pathogenic	2053485642	RCV001054867;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681289	42681289	15:g.42681289_42681289del	-
NM_000070.3(CAPN3):c.801+1G>A	825	CAPN3	Pathogenic	1459288402	RCV000668182\|RCV001509478\|RCV003459593;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42681295	42681295	15:g.42681295G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.801+2T>G	825	CAPN3	Pathogenic	-1	RCV002852310;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681296	42681296	NC_000015.9:g.42681296T>G	-
NC_000015.10:g.(?_42389933)_(42411793_?)del	825	CAPN3	Pathogenic	-1	RCV000805904;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682131	42703991		-
NM_000070.3(CAPN3):c.802-9G>A	825	CAPN3	Pathogenic	761211705	RCV000383471\|RCV000400325\|RCV002479996\|RCV003475885;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42682142	42682142	15:g.42682142G>A	ClinGen:CA7511134	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.806del (p.Gly269fs)	825	CAPN3	Pathogenic	2053509916	RCV001048587;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682154	42682154	15:g.42682154_42682154del	-
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs)	825	CAPN3	Pathogenic	398123150	RCV000179249\|RCV001381537;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682202	42682203	15:g.42682202_42682203insAGTTGATTGC	ClinGen:CA220354	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter)	825	CAPN3	Pathogenic	2141170517	RCV001956513;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682247	42682247	42682247	-
NM_000070.3(CAPN3):c.946-2A>G	825	CAPN3	Pathogenic	1595826673	RCV000821687\|RCV001091250\|RCV001814242\|RCV003461274;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42684835	42684835	15:g.42684835A>G	-
NM_000070.3(CAPN3):c.946-1G>A	825	CAPN3	Pathogenic	80338801	RCV000020097;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684836	42684836	15:g.42684836G>A	ClinGen:CA341532	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)	825	CAPN3	Pathogenic	750443041	RCV000760360\|RCV001051737\|RCV003461018;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42684858	42684858	NC_000015.9:g.42684858G>T	-
NM_000070.3(CAPN3):c.1012_1013del (p.Val338fs)	825	CAPN3	Pathogenic	2141176996	RCV001890262;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684902	42684903	42684901	-
NM_000070.3(CAPN3):c.1029+1G>A	825	CAPN3	Pathogenic	2141177054	RCV001970493;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684921	42684921	42684921	-
NC_000015.10:g.(?_42394246)_(42394351_?)del	825	CAPN3	Pathogenic	-1	RCV000803274;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686444	42686549		-
NC_000015.9:g.(?_42686444)_(42697047_?)del	825	CAPN3	Pathogenic	-1	RCV003119245;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686444	42697047		-
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)	825	CAPN3	Pathogenic	781013226	RCV000274925\|RCV000725901;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42686466	42686466	15:g.42686466_42686466del	ClinGen:CA7511233	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1055del (p.Lys352fs)	825	CAPN3	Pathogenic	-1	RCV003030783;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686478	42686478	NC_000015.9:g.42686479del	-
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)	825	CAPN3	Pathogenic	1555421280	RCV000665357\|RCV000733826;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42686503	42686503	15:g.42686503G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)	825	CAPN3	Pathogenic	267606703	RCV000019186;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686504	42686504	15:g.42686504G>C	ClinGen:CA341475,UniProtKB:P20807#VAR_009572,OMIM:114240.0007	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1084C>T (p.Gln362Ter)	825	CAPN3	Pathogenic	965032792	RCV001941728;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686508	42686508	42686508	-
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)	825	CAPN3	Pathogenic	1595828703	RCV001004982;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686530	42686530	15:g.42686530G>A	-
NC_000015.10:g.(?_42396790)_(42404849_?)del	825	CAPN3	Pathogenic	-1	RCV001032578;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42688988	42697047	-1	-
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)	825	CAPN3	Pathogenic	1555421523	RCV000593102\|RCV000757882;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689000	42689000	15:g.42689000G>A	ClinGen:CA391999114	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter)	825	CAPN3	Pathogenic	1555421524	RCV000592765\|RCV001388137;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689009	42689009	15:g.42689009G>A	ClinGen:CA391999140	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1143del (p.Asp382fs)	825	CAPN3	Pathogenic	-1	RCV002880779;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689023	42689023	NC_000015.9:g.42689025del	-
NC_000015.9:g.(?_42691680)_(42703981_?)del	825	CAPN3	Pathogenic	-1	RCV003119242;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691680	42703981		-
NM_000070.3(CAPN3):c.1194-9A>G	825	CAPN3	Pathogenic	374665929	RCV000201038\|RCV000516175\|RCV003225933\|RCV003474967;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691681	42691681	15:g.42691681A>G	ClinGen:CA347487	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1194-2A>G	825	CAPN3	Pathogenic	2053804014	RCV001249767;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691688	42691688	15:g.42691688A>G	-
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	825	CAPN3	Pathogenic	376107921	RCV000201096\|RCV000520664\|RCV000762949\|RCV001814105\|RCV003474968;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:000	15	42691815	42691815	15:g.42691815G>A	ClinVar:424767,ClinGen:CA347525	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	825	CAPN3	Pathogenic	1555421871	RCV000359171\|RCV000415128\|RCV000723497\|RCV001849361\|RCV003475888;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|EFO:EFO_0004269,Human Phenotype Ontology:HP:0001656,Human Phenotype Ontology:HP:0001661,Human Phenotype Ontology:HP:0001665,Human Phenotype Ontology:HP:0001666,Human Phenotype Ontology:HP:0001	15	42691815	42691815	15:g.42691815_42691815del	ClinGen:CA10603798	C0855329 Arrhythmia;
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)	825	CAPN3	Pathogenic	776043976	RCV000274198\|RCV000291465\|RCV003463735;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691838	42691838	15:g.42691838C>T	ClinGen:CA7511324,UniProtKB:P20807#VAR_009577	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	825	CAPN3	Pathogenic	863224956	RCV000201031\|RCV000710092\|RCV003387802\|RCV003474969;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691839	42691839	15:g.42691839G>A	ClinGen:CA347482,UniProtKB:P20807#VAR_009579	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1355-1G>C	825	CAPN3	Pathogenic	747557404	RCV000596715\|RCV001072038\|RCV003463772;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42693838	42693838	15:g.42693838G>C	ClinGen:CA7511340	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1357dup (p.Thr453fs)	825	CAPN3	Pathogenic	-1	RCV002690317;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693840	42693841	NC_000015.9:g.42693841dup	-
NM_000070.3(CAPN3):c.1363T>C (p.Trp455Arg)	825	CAPN3	Pathogenic	2141199370	RCV001730018;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693847	42693847	42693847	-
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp)	825	CAPN3	Pathogenic	781723572	RCV000819470;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693932	42693932	15:g.42693932C>A	-
NM_000070.3(CAPN3):c.1455del (p.Met485fs)	825	CAPN3	Pathogenic	2053876698	RCV001204483;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693939	42693939	15:g.42693939_42693939del	-
NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter)	825	CAPN3	Pathogenic	2141199686	RCV001992920;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693940	42693940	42693940	-
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)	825	CAPN3	Pathogenic	863224957	RCV000201199\|RCV000516176\|RCV002492925\|RCV003474970;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42693949	42693949	15:g.42693949C>T	ClinGen:CA347587,UniProtKB:P20807#VAR_009583	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	825	CAPN3	Pathogenic	121434548	RCV000019189\|RCV000724646\|RCV002222356\|RCV002490391\|RCV003473110;	Y	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|M	15	42693953	42693953	NC_000015.9:g.42693953G>A	ClinGen:CA341479,UniProtKB:P20807#VAR_009584,OMIM:114240.0010	CN239245 CAPN3-Related Disorders;
NM_000070.3(CAPN3):c.1515_1518dup (p.Tyr507fs)	825	CAPN3	Pathogenic	2141199970	RCV002000107;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693997	42693998	42693997	-
NM_000070.3(CAPN3):c.1524+1G>T	825	CAPN3	Pathogenic	1275289254	RCV000669957;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694009	42694009	15:g.42694009G>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1536+1G>T	825	CAPN3	Pathogenic	-1	RCV002628212;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694334	42694334	NC_000015.9:g.42694334G>T	-
NC_000015.9:g.(?_42694952)_(42698151_?)del	825	CAPN3	Pathogenic	-1	RCV003119243;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694952	42698151		-
NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter)	825	CAPN3	Pathogenic	-1	RCV003040927;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695007	42695007	NC_000015.9:g.42695007C>T	-
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)	825	CAPN3	Pathogenic	2053910936	RCV001246101\|RCV003462825;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42695016	42695016	15:g.42695016C>T	-
NM_000070.3(CAPN3):c.1576del (p.Leu526fs)	825	CAPN3	Pathogenic	1595838545	RCV000812244;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695030	42695030	15:g.42695030_42695030del	-
NM_000070.3(CAPN3):c.1590dup (p.Lys531fs)	825	CAPN3	Pathogenic	2141202919	RCV001383787;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695043	42695044	42695043	-
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter)	825	CAPN3	Pathogenic	886042439	RCV000349807\|RCV001814142\|RCV001729504;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695066	42695066	15:g.42695066C>A	ClinGen:CA10604243	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)	825	CAPN3	Pathogenic	752848213	RCV000298797\|RCV000812975;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695117	42695117	NC_000015.9:g.42695117C>G	ClinGen:CA10606744	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)	825	CAPN3	Pathogenic	727503839	RCV000174442\|RCV000790649\|RCV003114302\|RCV003390843\|RCV003474805;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42695154	42695154	NC_000015.9:g.42695154G>T	ClinGen:CA233622,UniProtKB:P20807#VAR_009589	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)	825	CAPN3	Pathogenic	863224959	RCV000201202\|RCV000725109\|RCV001814107\|RCV002500625\|RCV003474972;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600,Orph	15	42695169	42695169	15:g.42695169C>T	ClinGen:CA347588,UniProtKB:P20807#VAR_009590	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	825	CAPN3	Pathogenic	121434544	RCV000019180\|RCV000726518\|RCV001198825\|RCV003323362;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015	15	42695170	42695170	15:g.42695170G>A	ClinGen:CA341470,UniProtKB:P20807#VAR_001368,OMIM:114240.0002	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1740_1743del (p.Ser581fs)	825	CAPN3	Pathogenic	2141203435	RCV001387451;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695193	42695196	42695192	-
NM_000070.3(CAPN3):c.1771del (p.Asp591fs)	825	CAPN3	Pathogenic	754761503	RCV000702032\|RCV000732418\|RCV003460971;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42695963	42695963	15:g.42695963_42695963del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1782+1072G>C	825	CAPN3	Pathogenic	2053974373	RCV001217778\|RCV003462737;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42697047	42697047	15:g.42697047G>C	-
NC_000015.9:g.(?_42698114)_(42703981_?)del	825	CAPN3	Pathogenic	-1	RCV001956060;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698114	42703981	-1	-
NM_000070.3(CAPN3):c.1788_1791del (p.Lys598fs)	825	CAPN3	Pathogenic	2141210355	RCV001380793\|RCV003462968;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42698126	42698129	42698125	-
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)	825	CAPN3	Pathogenic	80338803	RCV000019187\|RCV000518261\|RCV001814001\|RCV003473109;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42698129	42698130	15:g.42698129_42698130insA	ClinGen:CA341478,OMIM:114240.0008	CN239245 CAPN3-Related Disorders;
NM_000070.3(CAPN3):c.1800+2T>C	825	CAPN3	Pathogenic	748194118	RCV001893662;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698143	42698143	42698143	-
NM_000070.3(CAPN3):c.1801-1G>A	825	CAPN3	Pathogenic	886043752	RCV000310673\|RCV000726084\|RCV003475915;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42700408	42700408	15:g.42700408G>A	ClinGen:CA10605901	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1838del (p.Lys613fs)	825	CAPN3	Pathogenic	1555422832	RCV000670620\|RCV001784263\|RCV003459617;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42700445	42700445	15:g.42700445_42700445del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)	825	CAPN3	Pathogenic	1566983844	RCV000730818\|RCV001213723\|RCV003472265;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42700463	42700463	NC_000015.9:g.42700463C>T	-
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs)	825	CAPN3	Pathogenic	2054085839	RCV001203806\|RCV002511055\|RCV003462682;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42700471	42700472	15:g.42700471_42700472del	-
NM_000070.3(CAPN3):c.1895_1913dup (p.Pro639fs)	825	CAPN3	Pathogenic	2141216768	RCV002039857;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700501	42700502	42700501	-
NC_000015.9:g.(?_42701491)_(42703981_?)del	825	CAPN3	Pathogenic	-1	RCV001390203;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701491	42703981	-1	-
NM_000070.3(CAPN3):c.1933del (p.Asp645fs)	825	CAPN3	Pathogenic	1595845459	RCV000820862;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701519	42701519	15:g.42701519_42701519del	-
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)	825	CAPN3	Pathogenic	863224960	RCV000201136\|RCV001814108\|RCV003474973;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42701525	42701525	NC_000015.9:g.42701525G>T	ClinGen:CA347555	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1974_1975insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTG	825	CAPN3	Pathogenic	-1	RCV002843873;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701546	42701547	NC_000015.9:g.42701560_42701561insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCGGAACATTTTC	-
NM_000070.3(CAPN3):c.1977_1978delinsCT (p.Lys659_Gln660delinsAsnTer)	825	CAPN3	Pathogenic	2141219910	RCV001385225;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701563	42701564	42701563	-
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)	825	CAPN3	Pathogenic	762471207	RCV000175119\|RCV000724745\|RCV003474927;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42701567	42701567	15:g.42701567_42701567del	ClinGen:CA346859	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1983dup (p.Ala662fs)	825	CAPN3	Pathogenic	-1	RCV002851586;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701568	42701569	NC_000015.9:g.42701569dup	-
NM_000070.3(CAPN3):c.1985del (p.Ala662fs)	825	CAPN3	Pathogenic	2141219970	RCV001381277;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701571	42701571	42701570	-
NM_000070.3(CAPN3):c.1986del (p.Gly663fs)	825	CAPN3	Pathogenic	-1	RCV003050336;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701572	42701572	NC_000015.9:g.42701572del	-
NM_000070.3(CAPN3):c.1992+1G>T	825	CAPN3	Pathogenic	863224961	RCV000201069\|RCV000725235\|RCV001814109\|RCV003474974;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42701579	42701579	15:g.42701579G>T	ClinGen:CA347506	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs)	825	CAPN3	Pathogenic	886044004	RCV000375164\|RCV002518054;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701989	42701990	15:g.42701989_42701990insG	ClinGen:CA10606217	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1999G>T (p.Glu667Ter)	825	CAPN3	Pathogenic	2141221307	RCV001384539;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701991	42701991	42701991	-
NM_000070.3(CAPN3):c.2019dup (p.Lys674fs)	825	CAPN3	Pathogenic	2141221357	RCV001390843;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702010	42702011	42702010	-
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs)	825	CAPN3	Pathogenic	886042418	RCV000345653\|RCV000725107;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42702025	42702026	15:g.42702025_42702026del	ClinGen:CA10604209	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2048_2051del (p.Lys683fs)	825	CAPN3	Pathogenic	2054150380	RCV001383612;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702036	42702039	42702035	-
NM_000070.3(CAPN3):c.2050+1dup	825	CAPN3	Pathogenic	2141221533	RCV002007498;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702042	42702043	42702042	-
NM_000070.3(CAPN3):c.2050+1G>A	825	CAPN3	Pathogenic	768374736	RCV000669271\|RCV001784257\|RCV003459610;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702043	42702043	15:g.42702043G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2050+1G>C	825	CAPN3	Pathogenic	768374736	RCV001904132;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702043	42702043	42702043	-
NM_000070.3(CAPN3):c.2051-1G>T	825	CAPN3	Pathogenic	886042108	RCV000391266\|RCV000724152\|RCV003475889;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702128	42702128	NC_000015.9:g.42702128G>T	ClinGen:CA10603816
NM_000070.3(CAPN3):c.2069_2070del (p.His690fs)	825	CAPN3	Pathogenic	1555423046	RCV000667099\|RCV003472084;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702143	42702144	15:g.42702143_42702144del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NC_000015.9:g.(?_42702616)_(42702874_?)del	825	CAPN3	Pathogenic	-1	RCV001958882;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702616	42702874	-1	-
NM_000070.3(CAPN3):c.2118_2121del (p.Asp707fs)	825	CAPN3	Pathogenic	1595846922	RCV000816250;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702628	42702631	15:g.42702628_42702631del	-
NM_000070.3(CAPN3):c.2201_2202del (p.His733_Tyr734insTer)	825	CAPN3	Pathogenic	2054185246	RCV001281669;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702801	42702802	42702800	-
NM_000070.3(CAPN3):c.2217C>G (p.Ser739=)	825	CAPN3	Pathogenic	148851444	RCV001554269;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702818	42702818	42702818	-
NM_000070.3(CAPN3):c.2230del (p.Ser744fs)	825	CAPN3	Pathogenic	2054186817	RCV001071498;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702831	42702831	15:g.42702831_42702831del	-
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)	825	CAPN3	Pathogenic	147774793	RCV000593493\|RCV001247085\|RCV003459470;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702836	42702836	15:g.42702836C>A	ClinGen:CA269853677	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)	825	CAPN3	Pathogenic	768090444	RCV000279441\|RCV000725244\|RCV003475902;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702843	42702843	15:g.42702843C>T	ClinGen:CA7511779	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)	825	CAPN3	Pathogenic	768090444	RCV000660878;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702843	42702843	15:g.42702843C>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2263+1G>A	825	CAPN3	Pathogenic	886044475	RCV000375361\|RCV000726501;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42702865	42702865	15:g.42702865G>A	ClinGen:CA10606801	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2301del (p.Met768fs)	825	CAPN3	Pathogenic	2141225604	RCV001942236;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703118	42703118	42703117	-
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)	825	CAPN3	Pathogenic	80338802	RCV000020096\|RCV000711017\|RCV001814000\|RCV003473106;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703124	42703124	15:g.42703124G>A	ClinGen:CA127306,UniProtKB:P20807#VAR_001370,OMIM:114240.0001	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)	825	CAPN3	Pathogenic	764086484	RCV000668298\|RCV002499161\|RCV003459594;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703130	42703133	15:g.42703130_42703133del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs)	825	CAPN3	Pathogenic	1457010016	RCV001038288\|RCV001784577;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42703132	42703133	15:g.42703132_42703133insACAA	-
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	825	CAPN3	Pathogenic	778768583	RCV000176251\|RCV000386470\|RCV003474930;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703156	42703156	15:g.42703156G>C	ClinGen:CA346865	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs)	825	CAPN3	Pathogenic	761897806	RCV000382404\|RCV000989294;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703179	42703180	15:g.42703179_42703180insTC	ClinGen:CA7511836	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)	825	CAPN3	Pathogenic	1555423217	RCV000019184\|RCV000019185\|RCV000294609\|RCV002490390\|RCV003114199\|RCV003473108;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C1299884\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,O	15	42703180	42703181	15:g.42703180_42703181insCATCT	ClinGen:CA127307,OMIM:114240.0006	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2362_2363insTC (p.Arg788fs)	825	CAPN3	Pathogenic	80338804	RCV000260574\|RCV001855085;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703180	42703181	15:g.42703180_42703181insTC	ClinGen:CA7511837	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2380+1G>A	825	CAPN3	Pathogenic	1555423222	RCV001378804;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703199	42703199	42703199	-
NC_000015.9:g.(?_42614560)_(42676697_?)del	825	CAPN3	Likely pathogenic	-1	RCV003119246;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42614560	42676697		-
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr)	825	CAPN3	Likely pathogenic	1555417257	RCV000672743;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652005	42652005	15:g.42652005T>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.212del (p.Lys71fs)	825	CAPN3	Likely pathogenic	1555417321	RCV000674845;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652212	42652212	15:g.42652212_42652212del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.290dup (p.Val98fs)	825	CAPN3	Likely pathogenic	1595794433	RCV001004405;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652291	42652292	15:g.42652291_42652292insT	-
NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter)	825	CAPN3	Likely pathogenic	2053335168	RCV001263854;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676714	42676714	15:g.42676714G>T	-
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)	825	CAPN3	Likely pathogenic	2053335268	RCV001779555;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676718	42676718	42676718	-
NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly)	825	CAPN3	Likely pathogenic	1566973583	RCV002250772;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676723	42676723	42676723	-
NM_000070.3(CAPN3):c.369del (p.Gly124fs)	825	CAPN3	Likely pathogenic	1555420083	RCV000665053;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676739	42676739	15:g.42676739_42676739del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)	825	CAPN3	Likely pathogenic	-1	RCV003153101;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676750	42676750		-
NM_000070.3(CAPN3):c.379+1G>A	825	CAPN3	Likely pathogenic	-1	RCV003005848;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676751	42676751	NC_000015.9:g.42676751G>A	-
NM_000070.3(CAPN3):c.379+3A>T	825	CAPN3	Likely pathogenic	1164215001	RCV001362667;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676753	42676753	42676753	-
NM_000070.3(CAPN3):c.380-8_395del	825	CAPN3	Likely pathogenic	1555420302	RCV000672580;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678354	42678377	15:g.42678354_42678377del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)	825	CAPN3	Likely pathogenic	946415346	RCV001068857;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678382	42678382	15:g.42678382G>A	-
NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)	825	CAPN3	Likely pathogenic	-1	RCV002306568;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679995	42679995	42679995	-
NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)	825	CAPN3	Likely pathogenic	-1	RCV002307037;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680007	42680007	42680007	-
NM_000070.3(CAPN3):c.632+1del	825	CAPN3	Likely pathogenic	1566975163	RCV000693259;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680085	42680085	15:g.42680085_42680085del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.641G>A (p.Gly214Asp)	825	CAPN3	Likely pathogenic	761430243	RCV001913001;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681134	42681134	42681134	-
NM_000070.3(CAPN3):c.643T>C (p.Ser215Pro)	825	CAPN3	Likely pathogenic	2053478068	RCV001290339;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681136	42681136	42681136	-
NM_000070.3(CAPN3):c.661G>A (p.Gly221Ser)	825	CAPN3	Likely pathogenic	1432632972	RCV001989087;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681154	42681154	42681154	-
NM_000070.3(CAPN3):c.728_762dup (p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer)	825	CAPN3	Likely pathogenic	-1	RCV003337877;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681220	42681221		-
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)	825	CAPN3	Likely pathogenic	757448865	RCV001263855\|RCV002499453\|RCV003462840;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42681240	42681240	15:g.42681240C>G	-
NM_000070.3(CAPN3):c.754A>G (p.Met252Val)	825	CAPN3	Likely pathogenic	2053483911	RCV002048143;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681247	42681247	42681247	-
NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)	825	CAPN3	Likely pathogenic	-1	RCV002307064;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681253	42681253	42681253	-
NM_000070.3(CAPN3):c.802-2A>G	825	CAPN3	Likely pathogenic	2141170197	RCV001964090;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682149	42682149	42682149	-
NM_000070.3(CAPN3):c.802-1G>A	825	CAPN3	Likely pathogenic	-1	RCV003014953;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682150	42682150	NC_000015.9:g.42682150G>A	-
NM_000070.3(CAPN3):c.945+1G>T	825	CAPN3	Likely pathogenic	1375420170	RCV001379391;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682295	42682295	42682295	-
NM_000070.3(CAPN3):c.945+1G>A	825	CAPN3	Likely pathogenic	-1	RCV002876265;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682295	42682295	NC_000015.9:g.42682295G>A	-
NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter)	825	CAPN3	Likely pathogenic	2053589887	RCV001263857;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684864	42684864	15:g.42684864A>T	-
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg)	825	CAPN3	Likely pathogenic	1085307995	RCV000489651\|RCV000644994\|RCV003464039;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42684876	42684876	15:g.42684876G>A	ClinGen:CA391998820	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly)	825	CAPN3	Likely pathogenic	1555421271	RCV000673597;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686485	42686485	15:g.42686485T>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1115+1G>A	825	CAPN3	Likely pathogenic	1555421293	RCV000674148;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686540	42686540	15:g.42686540G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1115+2T>A	825	CAPN3	Likely pathogenic	1057524468	RCV000644977;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686541	42686541	NC_000015.9:g.42686541T>A	ClinGen:CA391999103	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)	825	CAPN3	Likely pathogenic	-1	RCV003326700;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689010	42689010		-
NM_000070.3(CAPN3):c.1193+1G>A	825	CAPN3	Likely pathogenic	-1	RCV003061609;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689076	42689076	NC_000015.9:g.42689076G>A	-
NM_000070.3(CAPN3):c.1198del (p.Ser400fs)	825	CAPN3	Likely pathogenic	1555421842	RCV000671963;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691694	42691694	15:g.42691694_42691694del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe)	825	CAPN3	Likely pathogenic	371784007	RCV001239389\|RCV003462811;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691698	42691698	15:g.42691698A>T	-
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter)	825	CAPN3	Likely pathogenic	1555421847	RCV000673275;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691730	42691730	15:g.42691730G>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1525-1G>T	825	CAPN3	Likely pathogenic	2053889963	RCV001232871;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694321	42694321	15:g.42694321G>T	-
NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe)	825	CAPN3	Likely pathogenic	1409503203	RCV001070692\|RCV003462616;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42694322	42694322	15:g.42694322G>T	-
NM_000070.3(CAPN3):c.1558_1559del (p.Leu520fs)	825	CAPN3	Likely pathogenic	-1	RCV002290081;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695013	42695014	42695012	-
NM_000070.3(CAPN3):c.1642del (p.Arg548fs)	825	CAPN3	Likely pathogenic	1555422293	RCV000674431;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695096	42695096	15:g.42695096_42695096del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1690_1693dup (p.Gln565fs)	825	CAPN3	Likely pathogenic	1555422298	RCV000671304;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695142	42695143	15:g.42695142_42695143insCCCA	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1711del (p.Leu571fs)	825	CAPN3	Likely pathogenic	1334369407	RCV000666547;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695165	42695165	15:g.42695165_42695165del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NC_000015.9:g.(?_42695919)_(42695985_?)dup	825	CAPN3	Likely pathogenic	-1	RCV001378350;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695919	42695985	-1	-
NM_000070.3(CAPN3):c.1782+2T>C	825	CAPN3	Likely pathogenic	754930571	RCV002037538;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695977	42695977	42695977	-
NM_000070.3(CAPN3):c.1783-5_1784del	825	CAPN3	Likely pathogenic	-1	RCV002629499;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698118	42698124	NC_000015.9:g.42698119_42698125del	-
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter)	825	CAPN3	Likely pathogenic	1555422839	RCV000674022;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700466	42700466	15:g.42700466G>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1882del (p.Thr628fs)	825	CAPN3	Likely pathogenic	1555422847	RCV000673334;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700487	42700487	15:g.42700487_42700487del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)	825	CAPN3	Likely pathogenic	-1	RCV003337952\|RCV003459844;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42700514	42700515		-
NM_000070.3(CAPN3):c.1914+2T>C	825	CAPN3	Likely pathogenic	1555422856	RCV000667932;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700524	42700524	15:g.42700524T>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1944_1945del (p.Ser648fs)	825	CAPN3	Likely pathogenic	1555422954	RCV000672468;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701529	42701530	15:g.42701529_42701530del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter)	825	CAPN3	Likely pathogenic	777636094	RCV000672598\|RCV001784274;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42701534	42701534	15:g.42701534G>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter)	825	CAPN3	Likely pathogenic	1555423015	RCV000672316;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701999	42701999	15:g.42701999T>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs)	825	CAPN3	Likely pathogenic	1555423021	RCV000670893;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702023	42702024	15:g.42702023_42702024insAACAA	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2042_2043del (p.Val681fs)	825	CAPN3	Likely pathogenic	-1	RCV002309699;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702033	42702034	42702032	-
NM_000070.3(CAPN3):c.2051-1G>C	825	CAPN3	Likely pathogenic	886042108	RCV000674040;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702128	42702128	15:g.42702128G>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter)	825	CAPN3	Likely pathogenic	2054157050	RCV001263858;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702161	42702161	15:g.42702161G>T	-
NM_000070.3(CAPN3):c.2112_2115+2del	825	CAPN3	Likely pathogenic	-1	RCV002834476;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702189	42702194	NC_000015.9:g.42702190_42702195del	-
NM_000070.3(CAPN3):c.2115+1_2115+2dup	825	CAPN3	Likely pathogenic	760919949	RCV000666413\|RCV003459577;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702192	42702193	15:g.42702192_42702193insTG	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2115+1G>A	825	CAPN3	Likely pathogenic	766917640	RCV000671447\|RCV003472137;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702194	42702194	15:g.42702194G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2116-1G>C	825	CAPN3	Likely pathogenic	-1	RCV003042035;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702625	42702625	NC_000015.9:g.42702625G>C	-
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)	825	CAPN3	Likely pathogenic	-1	RCV000678675;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702644	42704190	15:g.42702644_42702742del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2184+2T>C	825	CAPN3	Likely pathogenic	1555423146	RCV000674774;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702696	42702696	NC_000015.9:g.42702696T>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2185-16A>G	825	CAPN3	Likely pathogenic	1339644598	RCV001378423\|RCV001587385;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42702770	42702770	42702770	-
NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)	825	CAPN3	Likely pathogenic	-1	RCV002309801;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702837	42702837	42702837	-
NM_000070.3(CAPN3):c.2256_2257del (p.Asn752fs)	825	CAPN3	Likely pathogenic	-1	RCV002307059;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702857	42702858	42702856	-
NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)	825	CAPN3	Likely pathogenic	-1	RCV002307272;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703099	42703099	42703099	-
NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys)	825	CAPN3	Likely pathogenic	2141225644	RCV001805741;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703127	42703127	42703127	-
NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val)	825	CAPN3	Likely pathogenic	752397587	RCV001808032;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703130	42703130	42703130	-
NM_000070.3(CAPN3):c.2333_2336dup (p.Phe779fs)	825	CAPN3	Likely pathogenic	-1	RCV003337983;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703150	42703151		-
NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter)	825	CAPN3	Likely pathogenic	2054206966	RCV001264019;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703198	42703198	15:g.42703198A>T	-
NM_000070.3(CAPN3):c.2439+1G>T	825	CAPN3	Likely pathogenic	-1	RCV003314261;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703544	42703544		-
NM_000070.3(CAPN3):c.2440-1G>C	825	CAPN3	Likely pathogenic	886044052	RCV000815849;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703944	42703944	15:g.42703944G>C	-
NM_000070.3(CAPN3):c.-300C>G	825	CAPN3	Uncertain significance	886051147	RCV000279677\|RCV000337160;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42651704	42651704	NC_000015.9:g.42651704C>G	ClinGen:CA10646926	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.-131G>T	825	CAPN3	Uncertain significance	113881834	RCV000310898\|RCV000400030\|RCV002487394;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42651873	42651873	NC_000015.9:g.42651873G>T	ClinGen:CA10646928	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.-104G>C	825	CAPN3	Conflicting interpretations of pathogenicity	149698681	RCV000391068\|RCV000349449\|RCV000831632;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352\|MedGen:C3661900	15	42651900	42651900	NC_000015.9:g.42651900G>C	ClinGen:CA10641815	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.-96A>T	825	CAPN3	Uncertain significance	2052587591	RCV001121087;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42651908	42651908	15:g.42651908A>T	-
NM_000070.3(CAPN3):c.5C>G (p.Pro2Arg)	825	CAPN3	Uncertain significance	-1	RCV002636873;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652008	42652008	NC_000015.9:g.42652008C>G	-
NM_000070.3(CAPN3):c.6G>A (p.Pro2=)	825	CAPN3	Likely benign	117480333	RCV001409119;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652009	42652009	42652009	-
NM_000070.3(CAPN3):c.6G>T (p.Pro2=)	825	CAPN3	Likely benign	117480333	RCV001443923;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652009	42652009	42652009	-
NM_000070.3(CAPN3):c.7A>G (p.Thr3Ala)	825	CAPN3	Uncertain significance	761238719	RCV000382109\|RCV001855149\|RCV002487224;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652010	42652010	15:g.42652010A>G	ClinGen:CA7510828	CN169374 not specified;
NM_000070.3(CAPN3):c.9C>T (p.Thr3=)	825	CAPN3	Likely benign	796218837	RCV002189795;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652012	42652012	42652012	-
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile)	825	CAPN3	Uncertain significance	140660066	RCV000548819\|RCV000594915\|RCV002483452;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652013	42652013	15:g.42652013G>A	ClinGen:CA7510831	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.12C>T (p.Val4=)	825	CAPN3	Likely benign	755799559	RCV001400450;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652015	42652015	42652015	-
NM_000070.3(CAPN3):c.13A>G (p.Ile5Val)	825	CAPN3	Uncertain significance	1265909242	RCV002005014;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652016	42652016	42652016	-
NM_000070.3(CAPN3):c.18C>T (p.Ser6=)	825	CAPN3	Likely benign	144722502	RCV002090115;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652021	42652021	42652021	-
NM_000070.3(CAPN3):c.19G>A (p.Ala7Thr)	825	CAPN3	Uncertain significance	776827432	RCV000809066;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652022	42652022	15:g.42652022G>A	-
NM_000070.3(CAPN3):c.24T>C (p.Ser8=)	825	CAPN3	Likely benign	748952956	RCV001405182;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652027	42652027	42652027	-
NM_000070.3(CAPN3):c.25G>C (p.Val9Leu)	825	CAPN3	Uncertain significance	2052590373	RCV002005719;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652028	42652028	42652028	-
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val)	825	CAPN3	Uncertain significance	771263688	RCV000597143\|RCV001315412;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652044	42652044	15:g.42652044C>T	ClinGen:CA7510835	CN169374 not specified;
NM_000070.3(CAPN3):c.41C>A (p.Ala14Glu)	825	CAPN3	Uncertain significance	-1	RCV002741989;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652044	42652044	NC_000015.9:g.42652044C>A	-
NM_000070.3(CAPN3):c.42G>A (p.Ala14=)	825	CAPN3	Likely benign	574443072	RCV002179682;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652045	42652045	42652045	-
NM_000070.3(CAPN3):c.42G>C (p.Ala14=)	825	CAPN3	Likely benign	574443072	RCV002114163;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652045	42652045	42652045	-
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)	825	CAPN3	Uncertain significance	772580081	RCV000479855\|RCV001835820;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652049	42652049	15:g.42652049G>A	ClinGen:CA7510838	CN169374 not specified;
NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala)	825	CAPN3	Conflicting interpretations of pathogenicity	775742866	RCV001277693\|RCV003145505;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42652050	42652050	15:g.42652050A>C	-
NM_000070.3(CAPN3):c.51C>T (p.Pro17=)	825	CAPN3	Likely benign	1392565832	RCV000535872;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652054	42652054	15:g.42652054C>T	ClinGen:CA489998875	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp)	825	CAPN3	Uncertain significance	764247865	RCV000696317\|RCV001559256\|RCV003144533;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MedGen:CN517202	15	42652055	42652055	NC_000015.9:g.42652055C>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln)	825	CAPN3	Uncertain significance	1375691407	RCV000687264\|RCV002485608;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652056	42652056	NC_000015.9:g.42652056G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.54G>C (p.Arg18=)	825	CAPN3	Likely benign	-1	RCV002900634;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652057	42652057		-
NM_000070.3(CAPN3):c.61G>T (p.Gly21Trp)	825	CAPN3	Uncertain significance	886043070	RCV000367427\|RCV001060205;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652064	42652064	15:g.42652064G>T	ClinGen:CA10605072	CN169374 not specified;
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)	825	CAPN3	Conflicting interpretations of pathogenicity	28364364	RCV000078101\|RCV000314855\|RCV000362522\|RCV000711022;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42652065	42652065	15:g.42652065G>A	ClinGen:CA145724,UniProtKB:P20807#VAR_022272	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.63G>A (p.Gly21=)	825	CAPN3	Likely benign	2052591879	RCV001432651;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652066	42652066	42652066	-
NM_000070.3(CAPN3):c.67G>C (p.Val23Leu)	825	CAPN3	Uncertain significance	-1	RCV002609165;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652070	42652070	NC_000015.9:g.42652070G>C	-
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)	825	CAPN3	Benign/Likely benign	61735534	RCV000250513\|RCV000540598;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652076	42652076	15:g.42652076C>T	ClinGen:CA7510845	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.75_83del (p.His25_Ala27del)	825	CAPN3	Uncertain significance	1555417278	RCV000668371;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652076	42652084	15:g.42652076_42652084del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.75C>T (p.His25=)	825	CAPN3	Likely benign	-1	RCV002710487;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652078	42652078		-
NM_000070.3(CAPN3):c.77C>T (p.Pro26Leu)	825	CAPN3	Uncertain significance	762020512	RCV000313174\|RCV000668152;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652080	42652080	15:g.42652080C>T	ClinGen:CA7510847,UniProtKB:P20807#VAR_009549	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.77C>G (p.Pro26Arg)	825	CAPN3	Uncertain significance	762020512	RCV000542086;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652080	42652080	15:g.42652080C>G	ClinGen:CA7510846	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.78G>A (p.Pro26=)	825	CAPN3	Benign/Likely benign	62642519	RCV000116546\|RCV000270251\|RCV000308855;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352	15	42652081	42652081	15:g.42652081G>A	ClinGen:CA152142	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.78G>T (p.Pro26=)	825	CAPN3	Likely benign	62642519	RCV001394044;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652081	42652081	42652081	-
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)	825	CAPN3	Benign/Likely benign	1801496	RCV000078104\|RCV000265929\|RCV000365906\|RCV000710096\|RCV001533471;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42652099	42652099	15:g.42652099T>C	ClinGen:CA145728	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.96_97inv (p.Glu33Lys)	825	CAPN3	Uncertain significance	-1	RCV000644990;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652099	42652100	NC_000015.9:g.42652099_42652100inv	ClinGen:CA658798307	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.100G>A (p.Ala34Thr)	825	CAPN3	Uncertain significance	772534302	RCV001300646;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652103	42652103	42652103	-
NM_000070.3(CAPN3):c.101C>G (p.Ala34Gly)	825	CAPN3	Uncertain significance	2052593680	RCV001069927;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652104	42652104	15:g.42652104C>G	-
NM_000070.3(CAPN3):c.104G>C (p.Gly35Ala)	825	CAPN3	Uncertain significance	2141102293	RCV001559252\|RCV001559253;	N	MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652107	42652107	42652107	-
NM_000070.3(CAPN3):c.105G>A (p.Gly35=)	825	CAPN3	Likely benign	2052593875	RCV002080296;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652108	42652108	42652108	-
NM_000070.3(CAPN3):c.108T>A (p.Gly36=)	825	CAPN3	Likely benign	-1	RCV003032271;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652111	42652111		-
NM_000070.3(CAPN3):c.111A>G (p.Gly37=)	825	CAPN3	Likely benign	149536696	RCV000952579;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652114	42652114	15:g.42652114A>G	-
NM_000070.3(CAPN3):c.114C>T (p.Asn38=)	825	CAPN3	Likely benign	770012991	RCV002213613;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652117	42652117	42652117	-
NM_000070.3(CAPN3):c.120T>C (p.Ser40=)	825	CAPN3	Likely benign	2141102340	RCV002121971;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652123	42652123	42652123	-
NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)	825	CAPN3	Uncertain significance	-1	RCV002659677\|RCV003143525;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42652137	42652137	NC_000015.9:g.42652137C>T	-
NM_000070.3(CAPN3):c.141C>T (p.Ile47=)	825	CAPN3	Likely benign	1566965944	RCV002145969;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652144	42652144	42652144	-
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn)	825	CAPN3	Uncertain significance	767281996	RCV000664576;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652146	42652146	15:g.42652146G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser)	825	CAPN3	Uncertain significance	1262587749	RCV000670032;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652152	42652152	15:g.42652152A>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.151T>C (p.Phe51Leu)	825	CAPN3	Uncertain significance	-1	RCV002589322;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652154	42652154	NC_000015.9:g.42652154T>C	-
NM_000070.3(CAPN3):c.157A>G (p.Ile53Val)	825	CAPN3	Uncertain significance	144138775	RCV000286215\|RCV000815757;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652160	42652160	NC_000015.9:g.42652160A>G	ClinGen:CA7510863	CN169374 not specified;
NM_000070.3(CAPN3):c.159T>C (p.Ile53=)	825	CAPN3	Likely benign	1566965970	RCV001397553;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652162	42652162	15:g.42652162T>C	-
NM_000070.3(CAPN3):c.160A>G (p.Ile54Val)	825	CAPN3	Uncertain significance	2052596155	RCV001235956;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652163	42652163	15:g.42652163A>G	-
NM_000070.3(CAPN3):c.162C>T (p.Ile54=)	825	CAPN3	Likely benign	527776745	RCV000979848;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652165	42652165	15:g.42652165C>T	-
NM_000070.3(CAPN3):c.163G>A (p.Gly55Arg)	825	CAPN3	Uncertain significance	753338235	RCV000810274\|RCV003145163;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42652166	42652166	15:g.42652166G>A	-
NM_000070.3(CAPN3):c.174G>A (p.Glu58=)	825	CAPN3	Likely benign	-1	RCV002837930;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652177	42652177		-
NM_000070.3(CAPN3):c.183C>T (p.Phe61=)	825	CAPN3	Conflicting interpretations of pathogenicity	146069933	RCV000283954\|RCV001088907;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652186	42652186	15:g.42652186C>T	ClinGen:CA7510870	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.184G>A (p.Glu62Lys)	825	CAPN3	Uncertain significance	370422576	RCV001239452;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652187	42652187	15:g.42652187G>A	-
NM_000070.3(CAPN3):c.189A>G (p.Gln63=)	825	CAPN3	Likely benign	2141102580	RCV002171275;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652192	42652192	42652192	-
NM_000070.3(CAPN3):c.193C>G (p.His65Asp)	825	CAPN3	Uncertain significance	898013388	RCV000644985;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652196	42652196	15:g.42652196C>G	ClinGen:CA269853942	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.196A>C (p.Lys66Gln)	825	CAPN3	Uncertain significance	2052597232	RCV001043276;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652199	42652199	15:g.42652199A>C	-
NM_000070.3(CAPN3):c.201A>G (p.Lys67=)	825	CAPN3	Likely benign	1408315770	RCV002080775;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652204	42652204	42652204	-
NM_000070.3(CAPN3):c.202T>C (p.Cys68Arg)	825	CAPN3	Uncertain significance	2141102622	RCV002251068;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652205	42652205	42652205	-
NM_000070.3(CAPN3):c.211A>G (p.Lys71Glu)	825	CAPN3	Uncertain significance	1595794265	RCV000799817;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652214	42652214	15:g.42652214A>G	-
NM_000070.3(CAPN3):c.222T>G (p.Leu74=)	825	CAPN3	Likely benign	551850600	RCV001277694;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652225	42652225	15:g.42652225T>G	-
NM_000070.3(CAPN3):c.224A>G (p.Tyr75Cys)	825	CAPN3	Uncertain significance	1555417323	RCV000598275\|RCV000727196;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42652227	42652227	15:g.42652227A>G	ClinGen:CA391994924	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.226G>C (p.Val76Leu)	825	CAPN3	Uncertain significance	-1	RCV003065583;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652229	42652229	NC_000015.9:g.42652229G>C	-
NM_000070.3(CAPN3):c.229G>A (p.Asp77Asn)	825	CAPN3	Uncertain significance	2141102703	RCV001997370;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652232	42652232	42652232	-
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)	825	CAPN3	Conflicting interpretations of pathogenicity	138867099	RCV000408097\|RCV001086033;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652235	42652235	15:g.42652235C>A	ClinGen:CA7510874	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.235G>C (p.Glu79Gln)	825	CAPN3	Uncertain significance	1555417328	RCV000672887;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652238	42652238	15:g.42652238G>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.239T>C (p.Phe80Ser)	825	CAPN3	Uncertain significance	886042800	RCV000387250\|RCV001338513;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652242	42652242	15:g.42652242T>C	ClinGen:CA10604698	CN169374 not specified;
NM_000070.3(CAPN3):c.240C>G (p.Phe80Leu)	825	CAPN3	Uncertain significance	2052598737	RCV001205433;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652243	42652243	15:g.42652243C>G	-
NM_000070.3(CAPN3):c.243A>G (p.Pro81=)	825	CAPN3	Likely benign	-1	RCV002861941;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652246	42652246		-
NM_000070.3(CAPN3):c.246G>A (p.Pro82=)	825	CAPN3	Likely benign	146529432	RCV000252446\|RCV000874543\|RCV001705327;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42652249	42652249	15:g.42652249G>A	ClinGen:CA7510877	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.255C>T (p.Thr85=)	825	CAPN3	Likely benign	773536127	RCV001504516;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652258	42652258	42652258	-
NM_000070.3(CAPN3):c.258T>C (p.Ser86=)	825	CAPN3	Likely benign	2141102790	RCV001482625;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652261	42652261	42652261	-
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val)	825	CAPN3	Uncertain significance	558925493	RCV000666297\|RCV000730633\|RCV002485529;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652262	42652262	15:g.42652262C>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu)	825	CAPN3	Conflicting interpretations of pathogenicity	760626912	RCV000173056\|RCV001230993;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652267	42652267	15:g.42652267T>G	ClinGen:CA238547	CN169374 not specified;
NM_000070.3(CAPN3):c.270C>T (p.Ser90=)	825	CAPN3	Conflicting interpretations of pathogenicity	753686702	RCV000729694\|RCV001088598;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652273	42652273	NC_000015.9:g.42652273C>T	ClinGen:CA7510885	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.279C>T (p.Phe93=)	825	CAPN3	Likely benign	761435000	RCV001413644;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652282	42652282	42652282	-
NM_000070.3(CAPN3):c.281C>T (p.Pro94Leu)	825	CAPN3	Uncertain significance	2052600414	RCV001323538;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652284	42652284	42652284	-
NM_000070.3(CAPN3):c.282C>T (p.Pro94=)	825	CAPN3	Likely benign	2141102887	RCV002094091;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652285	42652285	42652285	-
NM_000070.3(CAPN3):c.286C>G (p.Gln96Glu)	825	CAPN3	Uncertain significance	1476836379	RCV000705504;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652289	42652289	15:g.42652289C>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.287A>G (p.Gln96Arg)	825	CAPN3	Uncertain significance	2141102905	RCV002040566;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652290	42652290	42652290	-
NM_000070.3(CAPN3):c.288G>A (p.Gln96=)	825	CAPN3	Likely benign	374708755	RCV001448190;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652291	42652291	42652291	-
NM_000070.3(CAPN3):c.291C>T (p.Phe97=)	825	CAPN3	Likely benign	758058910	RCV001462669;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652294	42652294	42652294	-
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile)	825	CAPN3	Uncertain significance	368585092	RCV000264665\|RCV000644982\|RCV002480018;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652295	42652295	15:g.42652295G>A	ClinGen:CA7510890	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.294C>G (p.Val98=)	825	CAPN3	Likely benign	147493037	RCV000840115\|RCV001086223;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652297	42652297	15:g.42652297C>G	-
NM_000070.3(CAPN3):c.294C>A (p.Val98=)	825	CAPN3	Likely benign	147493037	RCV001469861;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652297	42652297	42652297	-
NM_000070.3(CAPN3):c.304C>T (p.Pro102Ser)	825	CAPN3	Uncertain significance	2141102957	RCV001909388;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652307	42652307	42652307	-
NM_000070.3(CAPN3):c.305C>T (p.Pro102Leu)	825	CAPN3	Uncertain significance	886042315	RCV000378364\|RCV000803556;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652308	42652308	NC_000015.9:g.42652308C>T	ClinGen:CA10604073	CN169374 not specified;
NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu)	825	CAPN3	Uncertain significance	148538711	RCV000486600\|RCV001350006;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652311	42652311	15:g.42652311C>T	ClinGen:CA7510893	CN169374 not specified;
NM_000070.3(CAPN3):c.309G>A (p.Pro103=)	825	CAPN3	Uncertain significance	376146681	RCV000667856\|RCV001756131;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42652312	42652312	15:g.42652312G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.309+7A>G	825	CAPN3	Likely benign	2052601419	RCV001437455;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652319	42652319	42652319	-
NM_000070.3(CAPN3):c.309+8G>A	825	CAPN3	Likely benign	-1	RCV002862626;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652320	42652320	NC_000015.9:g.42652320G>A	-
NM_000070.3(CAPN3):c.309+12C>T	825	CAPN3	Benign	200773265	RCV000441886\|RCV002063449;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652324	42652324	15:g.42652324C>T	ClinGen:CA7510895	CN169374 not specified;
NM_000070.3(CAPN3):c.309+15G>A	825	CAPN3	Likely benign	-1	RCV002790722;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42652327	42652327	NC_000015.9:g.42652327G>A	-
NM_000070.3(CAPN3):c.310-20A>C	825	CAPN3	Benign	537236363	RCV002127354;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676661	42676661	42676661	-
NM_000070.3(CAPN3):c.317G>C (p.Cys106Ser)	825	CAPN3	Uncertain significance	-1	RCV002640560;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676688	42676688	NC_000015.9:g.42676688G>C	-
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)	825	CAPN3	Benign/Likely benign	117609395	RCV000078097\|RCV000545237\|RCV001082487;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676689	42676689	15:g.42676689C>T	ClinGen:CA145720	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)	825	CAPN3	Benign/Likely benign	1801505	RCV000175518\|RCV000711020\|RCV001081639\|RCV002492747;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42676690	42676690	15:g.42676690G>A	ClinGen:CA201500,UniProtKB:P20807#VAR_009553	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.323A>G (p.Asn108Ser)	825	CAPN3	Uncertain significance	2053333610	RCV001986485;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676694	42676694	42676694	-
NM_000070.3(CAPN3):c.324T>A (p.Asn108Lys)	825	CAPN3	Uncertain significance	2141155500	RCV002047636;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676695	42676695	42676695	-
NM_000070.3(CAPN3):c.326C>A (p.Pro109His)	825	CAPN3	Uncertain significance	2141155515	RCV001726943\|RCV002539760;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676697	42676697	42676697	-
NM_000070.3(CAPN3):c.327C>T (p.Pro109=)	825	CAPN3	Likely benign	779130436	RCV000888582;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676698	42676698	15:g.42676698C>T	-
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln)	825	CAPN3	Likely benign	188108732	RCV000981700;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676700	42676700	15:g.42676700G>A	-
NM_000070.3(CAPN3):c.337A>G (p.Ile113Val)	825	CAPN3	Uncertain significance	2053334758	RCV001116184;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676708	42676708	15:g.42676708A>G	-
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)	825	CAPN3	Conflicting interpretations of pathogenicity	747026964	RCV000440617\|RCV000675143\|RCV002282100\|RCV003475901;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42676709	42676709	15:g.42676709T>C	ClinGen:CA7510921	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.349A>C (p.Asn117His)	825	CAPN3	Uncertain significance	1011699008	RCV000803635\|RCV002487710;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42676720	42676720	15:g.42676720A>C	-
NM_000070.3(CAPN3):c.351C>T (p.Asn117=)	825	CAPN3	Conflicting interpretations of pathogenicity	772886155	RCV000363118\|RCV001457345;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676722	42676722	15:g.42676722C>T	ClinGen:CA7510923	CN169374 not specified;
NM_000070.3(CAPN3):c.355A>G (p.Thr119Ala)	825	CAPN3	Uncertain significance	1218735599	RCV001040595;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676726	42676726	15:g.42676726A>G	-
NM_000070.3(CAPN3):c.360C>A (p.Asp120Glu)	825	CAPN3	Uncertain significance	886043027	RCV000407735\|RCV000698940;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676731	42676731	15:g.42676731C>A	ClinGen:CA10605014	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.363C>G (p.Ile121Met)	825	CAPN3	Uncertain significance	901764287	RCV000595690\|RCV002532362;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676734	42676734	15:g.42676734C>G	ClinGen:CA269832799	CN169374 not specified;
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys)	825	CAPN3	Conflicting interpretations of pathogenicity	886043437	RCV000391985\|RCV000534527;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676738	42676738	15:g.42676738C>A	ClinGen:CA10605522	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.369A>G (p.Gln123=)	825	CAPN3	Likely benign	774155921	RCV002094456;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676740	42676740	42676740	-
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)	825	CAPN3	Conflicting interpretations of pathogenicity	587780291	RCV000116543\|RCV000711021\|RCV002528206;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	15	42676742	42676742	15:g.42676742G>C	ClinGen:CA345537	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.379+3A>G	825	CAPN3	Conflicting interpretations of pathogenicity	1164215001	RCV001774552\|RCV002512158;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676753	42676753	42676753	-
NM_000070.3(CAPN3):c.379+5G>T	825	CAPN3	Uncertain significance	886042704	RCV000285281\|RCV001855130;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42676755	42676755	15:g.42676755G>T	ClinGen:CA10604585	CN169374 not specified;
NM_000070.3(CAPN3):c.380-8G>A	825	CAPN3	Likely benign	1415586798	RCV002182566;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678357	42678357	42678357	-
NM_000070.3(CAPN3):c.381G>T (p.Gly127=)	825	CAPN3	Likely benign	-1	RCV002847900;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678366	42678366		-
NM_000070.3(CAPN3):c.387C>G (p.Cys129Trp)	825	CAPN3	Uncertain significance	1555420308	RCV000594904\|RCV001344749;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678372	42678372	15:g.42678372C>G	ClinGen:CA391997480	CN169374 not specified;
NM_000070.3(CAPN3):c.395T>C (p.Leu132Pro)	825	CAPN3	Uncertain significance	1555420309	RCV000596498\|RCV001342254;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678380	42678380	15:g.42678380T>C	ClinGen:CA391997502	CN169374 not specified;
NM_000070.3(CAPN3):c.396C>G (p.Leu132=)	825	CAPN3	Likely benign	-1	RCV003045529;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678381	42678381		-
NM_000070.3(CAPN3):c.397G>T (p.Ala133Ser)	825	CAPN3	Uncertain significance	946415346	RCV001934932;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678382	42678382	42678382	-
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val)	825	CAPN3	Uncertain significance	774685118	RCV000353826\|RCV000668129\|RCV002307481;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374	15	42678383	42678383	15:g.42678383C>T	ClinGen:CA7511008	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.402C>T (p.Ala134=)	825	CAPN3	Likely benign	759713838	RCV001465459;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678387	42678387	42678387	-
NM_000070.3(CAPN3):c.405T>A (p.Ile135=)	825	CAPN3	Likely benign	568666121	RCV001478299;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678390	42678390	42678390	-
NM_000070.3(CAPN3):c.408C>T (p.Ala136=)	825	CAPN3	Likely benign	775861630	RCV001506675;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678393	42678393	42678393	-
NM_000070.3(CAPN3):c.408C>G (p.Ala136=)	825	CAPN3	Likely benign	775861630	RCV002190931;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678393	42678393	42678393	-
NM_000070.3(CAPN3):c.412C>G (p.Leu138Val)	825	CAPN3	Uncertain significance	1042151947	RCV001235800;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678397	42678397	15:g.42678397C>G	-
NM_000070.3(CAPN3):c.417C>T (p.Thr139=)	825	CAPN3	Likely benign	2053400365	RCV001413570;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678402	42678402	42678402	-
NM_000070.3(CAPN3):c.423C>T (p.Asn141=)	825	CAPN3	Likely benign	-1	RCV002653881;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678408	42678408		-
NM_000070.3(CAPN3):c.425A>G (p.Gln142Arg)	825	CAPN3	Uncertain significance	1173872855	RCV001278217\|RCV003145506;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42678410	42678410	15:g.42678410A>G	-
NM_000070.3(CAPN3):c.433C>G (p.Leu145Val)	825	CAPN3	Uncertain significance	886044404	RCV000312075\|RCV001064200;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678418	42678418	15:g.42678418C>G	ClinGen:CA10606713	CN169374 not specified;
NM_000070.3(CAPN3):c.433C>T (p.Leu145Phe)	825	CAPN3	Uncertain significance	-1	RCV002959057;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678418	42678418	NC_000015.9:g.42678418C>T	-
NM_000070.3(CAPN3):c.438C>T (p.Phe146=)	825	CAPN3	Likely benign	-1	RCV002805286;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678423	42678423		-
NM_000070.3(CAPN3):c.439C>A (p.Arg147=)	825	CAPN3	Uncertain significance	878854364	RCV001885800;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678424	42678424	42678424	-
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln)	825	CAPN3	Uncertain significance	139671324	RCV000667520\|RCV002469243;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374	15	42678425	42678425	15:g.42678425G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.450C>T (p.Pro150=)	825	CAPN3	Likely benign	1255302975	RCV001429188;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678435	42678435	15:g.42678435C>T	-
NM_000070.3(CAPN3):c.451C>G (p.His151Asp)	825	CAPN3	Uncertain significance	886051148	RCV000323282\|RCV000380321;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352	15	42678436	42678436	NC_000015.9:g.42678436C>G	ClinGen:CA10646929	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.452A>G (p.His151Arg)	825	CAPN3	Uncertain significance	766369281	RCV001775055\|RCV001861130\|RCV002506811;	N	MONDO:MONDO:0600024,MedGen:C3888318,OMIM:160750\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678437	42678437	42678437	-
NM_000070.3(CAPN3):c.452A>C (p.His151Pro)	825	CAPN3	Uncertain significance	766369281	RCV001967497\|RCV003146378;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42678437	42678437	42678437	-
NM_000070.3(CAPN3):c.453T>C (p.His151=)	825	CAPN3	Likely benign	1193719537	RCV002211461;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678438	42678438	42678438	-
NM_000070.3(CAPN3):c.456T>C (p.Asp152=)	825	CAPN3	Likely benign	751448923	RCV001482858;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678441	42678441	15:g.42678441T>C	-
NM_000070.3(CAPN3):c.459A>C (p.Gln153His)	825	CAPN3	Uncertain significance	2141160666	RCV001935226;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678444	42678444	42678444	-
NM_000070.3(CAPN3):c.461G>C (p.Ser154Thr)	825	CAPN3	Uncertain significance	1177741110	RCV001055638\|RCV003145306\|RCV003283918;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	15	42678446	42678446	15:g.42678446G>C	-
NM_000070.3(CAPN3):c.466A>G (p.Ile156Val)	825	CAPN3	Uncertain significance	780611743	RCV000732251\|RCV001855679;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678451	42678451	NC_000015.9:g.42678451A>G	-
NM_000070.3(CAPN3):c.468C>T (p.Ile156=)	825	CAPN3	Conflicting interpretations of pathogenicity	143942248	RCV001395030\|RCV001698499;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42678453	42678453	15:g.42678453C>T	ClinGen:CA7511021	CN169374 not specified;
NM_000070.3(CAPN3):c.468C>A (p.Ile156=)	825	CAPN3	Likely benign	143942248	RCV000927935;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678453	42678453	15:g.42678453C>A	-
NM_000070.3(CAPN3):c.469G>A (p.Glu157Lys)	825	CAPN3	Uncertain significance	200944841	RCV001217879;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678454	42678454	15:g.42678454G>A	-
NM_000070.3(CAPN3):c.477C>T (p.Tyr159=)	825	CAPN3	Uncertain significance	1401194449	RCV001342096\|RCV003145589;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42678462	42678462	42678462	-
NM_000070.3(CAPN3):c.478G>C (p.Ala160Pro)	825	CAPN3	Uncertain significance	749697583	RCV000287741\|RCV000697644;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678463	42678463	15:g.42678463G>C	ClinGen:CA10607069	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.478G>A (p.Ala160Thr)	825	CAPN3	Uncertain significance	749697583	RCV001278218\|RCV003145507;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42678463	42678463	15:g.42678463G>A	-
NM_000070.3(CAPN3):c.478G>T (p.Ala160Ser)	825	CAPN3	Uncertain significance	749697583	RCV002013247;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678463	42678463	42678463	-
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)	825	CAPN3	Benign/Likely benign	17592	RCV000078098\|RCV000317357\|RCV000260072;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678464	42678464	15:g.42678464C>G	ClinGen:CA145722,UniProtKB:P20807#VAR_015389	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.480A>T (p.Ala160=)	825	CAPN3	Likely benign	779579276	RCV002095383;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678465	42678465	42678465	-
NM_000070.3(CAPN3):c.480A>G (p.Ala160=)	825	CAPN3	Likely benign	-1	RCV002972448;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678465	42678465		-
NM_000070.3(CAPN3):c.481G>A (p.Gly161Arg)	825	CAPN3	Uncertain significance	1566974488	RCV000761906\|RCV002536583;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678466	42678466	NC_000015.9:g.42678466G>A	-
NM_000070.3(CAPN3):c.484A>T (p.Ile162Phe)	825	CAPN3	Uncertain significance	1595819812	RCV001004962;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678469	42678469	15:g.42678469A>T	-
NM_000070.3(CAPN3):c.492C>T (p.His164=)	825	CAPN3	Conflicting interpretations of pathogenicity	746311570	RCV000730928\|RCV001401882;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678477	42678477	NC_000015.9:g.42678477C>T	-
NM_000070.3(CAPN3):c.495C>T (p.Phe165=)	825	CAPN3	Benign/Likely benign	1801324	RCV000152919\|RCV000559703\|RCV003407572;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42678480	42678480	15:g.42678480C>T	ClinGen:CA179836	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.498+7T>A	825	CAPN3	Uncertain significance	-1	RCV002832910;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678490	42678490	NC_000015.9:g.42678490T>A	-
NM_000070.3(CAPN3):c.498+35G>T	825	CAPN3	Benign	28364399	RCV000250039\|RCV000837892\|RCV001533472\|RCV001533473;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42678518	42678518	NC_000015.9:g.42678518G>T	ClinGen:CA7511036	CN169374 not specified;
NM_000070.3(CAPN3):c.499-18C>T	825	CAPN3	Benign	144299553	RCV002132163;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679933	42679933	42679933	-
NM_000070.3(CAPN3):c.499-17G>A	825	CAPN3	Likely benign	-1	RCV002937224;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679934	42679934	NC_000015.9:g.42679934G>A	-
NM_000070.3(CAPN3):c.499-13C>T	825	CAPN3	Likely benign	201344810	RCV000253190\|RCV002057291;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679938	42679938	NC_000015.9:g.42679938C>T	ClinGen:CA7511045	CN169374 not specified;
NM_000070.3(CAPN3):c.499-12G>A	825	CAPN3	Likely benign	2053441522	RCV002116981;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679939	42679939	42679939	-
NM_000070.3(CAPN3):c.499-10T>C	825	CAPN3	Likely benign	747144192	RCV002171926;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679941	42679941	42679941	-
NM_000070.3(CAPN3):c.499-6G>A	825	CAPN3	Likely benign	371721054	RCV001440357;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679945	42679945	15:g.42679945G>A	-
NM_000070.3(CAPN3):c.501C>T (p.Phe167=)	825	CAPN3	Likely benign	2141164547	RCV002074812;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679953	42679953	42679953	-
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys)	825	CAPN3	Uncertain significance	1349313665	RCV000644996;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679957	42679957	NC_000015.9:g.42679957C>T	ClinGen:CA391997756	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)	825	CAPN3	Conflicting interpretations of pathogenicity	1555420468	RCV000673164;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679961	42679961	15:g.42679961A>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.512G>A (p.Gly171Glu)	825	CAPN3	Uncertain significance	2141164606	RCV001580649\|RCV001580648;	N	MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679964	42679964	42679964	-
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)	825	CAPN3	Conflicting interpretations of pathogenicity	144383442	RCV000178035\|RCV000282391\|RCV000374364\|RCV000724809;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42679977	42679977	15:g.42679977C>T	ClinGen:CA245057	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.526G>A (p.Val176Met)	825	CAPN3	Uncertain significance	774114705	RCV001116185\|RCV001576565;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42679978	42679978	15:g.42679978G>A	-
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)	825	CAPN3	Conflicting interpretations of pathogenicity	794727615	RCV000354989\|RCV001004990;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679985	42679985	15:g.42679985T>C	ClinGen:CA10604803	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.537T>C (p.Asp179=)	825	CAPN3	Likely benign	2141164696	RCV001483068;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679989	42679989	42679989	-
NM_000070.3(CAPN3):c.538G>A (p.Asp180Asn)	825	CAPN3	Uncertain significance	767477904	RCV001307356;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679990	42679990	42679990	-
NM_000070.3(CAPN3):c.539A>G (p.Asp180Gly)	825	CAPN3	Uncertain significance	-1	RCV002298183;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679991	42679991	42679991	-
NM_000070.3(CAPN3):c.544C>T (p.Leu182=)	825	CAPN3	Likely benign	-1	RCV002820813;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42679996	42679996		-
NM_000070.3(CAPN3):c.550A>G (p.Thr184Ala)	825	CAPN3	Uncertain significance	1159580160	RCV000820682;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680002	42680002	15:g.42680002A>G	-
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)	825	CAPN3	Benign/Likely benign	35889956	RCV000116544\|RCV000547941\|RCV001288906\|RCV002490788;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42680003	42680003	15:g.42680003C>T	ClinGen:CA152139,UniProtKB:P20807#VAR_009558	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)	825	CAPN3	Conflicting interpretations of pathogenicity	147808529	RCV000605183\|RCV000730156\|RCV001079344;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680004	42680004	15:g.42680004G>A	ClinGen:CA7511053	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.555C>T (p.Tyr185=)	825	CAPN3	Likely benign	763449646	RCV001455975;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680007	42680007	42680007	-
NM_000070.3(CAPN3):c.561T>C (p.Asn187=)	825	CAPN3	Likely benign	750787615	RCV001501753;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680013	42680013	42680013	-
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)	825	CAPN3	Conflicting interpretations of pathogenicity	758795961	RCV000201041\|RCV000729232\|RCV003330573\|RCV003462350;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42680018	42680018	NC_000015.9:g.42680018T>C	ClinGen:CA347491,UniProtKB:P20807#VAR_009559	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.572T>G (p.Phe191Cys)	825	CAPN3	Uncertain significance	2141164830	RCV001984367;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680024	42680024	42680024	-
NM_000070.3(CAPN3):c.573C>T (p.Phe191=)	825	CAPN3	Likely benign	2141164833	RCV001472114;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680025	42680025	42680025	-
NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser)	825	CAPN3	Uncertain significance	148855999	RCV000178033\|RCV001242627;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680036	42680036	15:g.42680036A>G	ClinGen:CA245053	CN169374 not specified;
NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr)	825	CAPN3	Uncertain significance	148855999	RCV000260114\|RCV000813122\|RCV001535726;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239245	15	42680036	42680036	NC_000015.9:g.42680036A>C	ClinGen:CA7511061	CN169374 not specified;
NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys)	825	CAPN3	Uncertain significance	199718635	RCV000263922\|RCV000644993\|RCV002494842;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42680041	42680041	15:g.42680041C>T	ClinGen:CA7511063	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.590G>A (p.Arg197His)	825	CAPN3	Conflicting interpretations of pathogenicity	768426565	RCV000387421\|RCV003144203\|RCV003475931;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42680042	42680042	NC_000015.9:g.42680042G>A	ClinGen:CA7511064	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.590G>T (p.Arg197Leu)	825	CAPN3	Uncertain significance	768426565	RCV000517909\|RCV000726924\|RCV000824475;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680042	42680042	NC_000015.9:g.42680042G>T	ClinGen:CA7511065	CN169374 not specified;
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)	825	CAPN3	Conflicting interpretations of pathogenicity	371166254	RCV000480853\|RCV000528940\|RCV003476161;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42680045	42680045	15:g.42680045A>G	ClinGen:CA7511066	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.594T>C (p.Asn198=)	825	CAPN3	Likely benign	771800732	RCV002071599;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680046	42680046	42680046	-
NM_000070.3(CAPN3):c.597G>A (p.Glu199=)	825	CAPN3	Likely benign	2141164922	RCV001434760;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680049	42680049	42680049	-
NM_000070.3(CAPN3):c.600C>T (p.Phe200=)	825	CAPN3	Likely benign	-1	RCV002967614;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680052	42680052		-
NM_000070.3(CAPN3):c.602G>C (p.Trp201Ser)	825	CAPN3	Uncertain significance	-1	RCV002861703;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680054	42680054	NC_000015.9:g.42680054G>C	-
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)	825	CAPN3	Benign/Likely benign	17593	RCV000116545\|RCV000295526\|RCV000352585\|RCV000710094;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42680058	42680058	15:g.42680058T>C	ClinGen:CA152140	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)	825	CAPN3	Conflicting interpretations of pathogenicity	763719290	RCV000314946\|RCV000686362\|RCV001267485;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MeSH:D030342,MedGen:C0950123	15	42680060	42680060	15:g.42680060C>T	ClinGen:CA7511069	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly)	825	CAPN3	Uncertain significance	763719290	RCV001045585;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680060	42680060	15:g.42680060C>G	-
NM_000070.3(CAPN3):c.609T>G (p.Ala203=)	825	CAPN3	Likely benign	2053446111	RCV002187241;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680061	42680061	42680061	-
NM_000070.3(CAPN3):c.612G>A (p.Leu204=)	825	CAPN3	Likely benign	2141164979	RCV001436529;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680064	42680064	42680064	-
NM_000070.3(CAPN3):c.614T>C (p.Leu205Pro)	825	CAPN3	Uncertain significance	1001356986	RCV000730616\|RCV001855643;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680066	42680066	NC_000015.9:g.42680066T>C	-
NM_000070.3(CAPN3):c.618G>A (p.Glu206=)	825	CAPN3	Conflicting interpretations of pathogenicity	541597520	RCV000289675\|RCV000400417;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680070	42680070	NC_000015.9:g.42680070G>A	ClinGen:CA7511071	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.619_620delinsGC (p.Lys207Ala)	825	CAPN3	Uncertain significance	2141165016	RCV001866651;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680071	42680072	42680071	-
NM_000070.3(CAPN3):c.620A>C (p.Lys207Thr)	825	CAPN3	Uncertain significance	886043108	RCV000313017\|RCV001360530;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680072	42680072	15:g.42680072A>C	ClinGen:CA10605119	CN169374 not specified;
NM_000070.3(CAPN3):c.622G>T (p.Ala208Ser)	825	CAPN3	Uncertain significance	1566975157	RCV000695931;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680074	42680074	15:g.42680074G>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.627T>C (p.Tyr209=)	825	CAPN3	Likely benign	765012463	RCV002077901;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680079	42680079	42680079	-
NM_000070.3(CAPN3):c.628G>A (p.Ala210Thr)	825	CAPN3	Uncertain significance	2141165044	RCV001988604;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680080	42680080	42680080	-
NM_000070.3(CAPN3):c.629C>G (p.Ala210Gly)	825	CAPN3	Uncertain significance	2053446874	RCV001233793;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680081	42680081	15:g.42680081C>G	-
NM_000070.3(CAPN3):c.631A>G (p.Lys211Glu)	825	CAPN3	Uncertain significance	1039308482	RCV001967001;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680083	42680083	42680083	-
NM_000070.3(CAPN3):c.632+3A>G	825	CAPN3	Uncertain significance	201660362	RCV000379836\|RCV001810441\|RCV002503987;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680087	42680087	15:g.42680087A>G	ClinGen:CA7511073	CN169374 not specified;
NM_000070.3(CAPN3):c.632+4A>G	825	CAPN3	Conflicting interpretations of pathogenicity	1555420507	RCV000665369\|RCV003459570;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42680088	42680088	15:g.42680088A>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.632+8A>G	825	CAPN3	Likely benign	2053447422	RCV001278219;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42680092	42680092	15:g.42680092A>G	-
NM_000070.3(CAPN3):c.633-69G>A	825	CAPN3	Benign	4924675	RCV001533475\|RCV001533474\|RCV001655820;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MedGen:C3661900	15	42681057	42681057	42681057	-
NM_000070.3(CAPN3):c.633-18C>T	825	CAPN3	Likely benign	376747480	RCV002174055;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681108	42681108	42681108	-
NM_000070.3(CAPN3):c.633-15C>A	825	CAPN3	Likely benign	-1	RCV002876466;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681111	42681111	NC_000015.9:g.42681111C>A	-
NM_000070.3(CAPN3):c.633-8T>C	825	CAPN3	Likely benign	1595822560	RCV001443637;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681118	42681118	15:g.42681118T>C	-
NM_000070.3(CAPN3):c.633-5C>T	825	CAPN3	Likely benign	-1	RCV003011310;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681121	42681121	NC_000015.9:g.42681121C>T	-
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)	825	CAPN3	Conflicting interpretations of pathogenicity	779701414	RCV000339333\|RCV000667247;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681126	42681126	15:g.42681126G>C	ClinGen:CA10604967	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.635T>C (p.Leu212Pro)	825	CAPN3	Uncertain significance	886042100	RCV000379884\|RCV001040322;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681128	42681128	15:g.42681128T>C	ClinGen:CA10603809	CN169374 not specified;
NM_000070.3(CAPN3):c.636C>T (p.Leu212=)	825	CAPN3	Likely benign	2141167614	RCV002180321;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681129	42681129	42681129	-
NM_000070.3(CAPN3):c.637C>T (p.His213Tyr)	825	CAPN3	Uncertain significance	747017866	RCV001363817;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681130	42681130	42681130	-
NM_000070.3(CAPN3):c.638A>G (p.His213Arg)	825	CAPN3	Conflicting interpretations of pathogenicity	768447053	RCV001306628\|RCV002241861\|RCV003462875;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42681131	42681131	42681131	-
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)	825	CAPN3	Conflicting interpretations of pathogenicity	369784333	RCV000597389\|RCV000673077\|RCV002509457\|RCV003471951;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42681133	42681133	15:g.42681133G>A	ClinGen:CA7511089	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.646T>C (p.Tyr216His)	825	CAPN3	Uncertain significance	2141167665	RCV002014772;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681139	42681139	42681139	-
NM_000070.3(CAPN3):c.648C>T (p.Tyr216=)	825	CAPN3	Conflicting interpretations of pathogenicity	138846390	RCV000284435\|RCV001487950;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681141	42681141	15:g.42681141C>T	ClinGen:CA7511091	CN169374 not specified;
NM_000070.3(CAPN3):c.652G>C (p.Ala218Pro)	825	CAPN3	Uncertain significance	1555420621	RCV000517104\|RCV002525021\|RCV003144300;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42681145	42681145	15:g.42681145G>C	ClinGen:CA391998082	CN169374 not specified;
NM_000070.3(CAPN3):c.663T>C (p.Gly221=)	825	CAPN3	Likely benign	2141167702	RCV001489975;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681156	42681156	42681156	-
NM_000070.3(CAPN3):c.665G>A (p.Gly222Glu)	825	CAPN3	Uncertain significance	-1	RCV003085020;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681158	42681158	NC_000015.9:g.42681158G>A	-
NM_000070.3(CAPN3):c.666G>A (p.Gly222=)	825	CAPN3	Likely benign	2141167714	RCV002161754;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681159	42681159	42681159	-
NM_000070.3(CAPN3):c.669C>T (p.Asn223=)	825	CAPN3	Likely benign	762688656	RCV001485404;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681162	42681162	42681162	-
NM_000070.3(CAPN3):c.670A>T (p.Thr224Ser)	825	CAPN3	Uncertain significance	2141167741	RCV001889433;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681163	42681163	42681163	-
NM_000070.3(CAPN3):c.672C>G (p.Thr224=)	825	CAPN3	Likely benign	2141167755	RCV002155351;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681165	42681165	42681165	-
NM_000070.3(CAPN3):c.673A>G (p.Thr225Ala)	825	CAPN3	Uncertain significance	2053479373	RCV001278220;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681166	42681166	15:g.42681166A>G	-
NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr)	825	CAPN3	Uncertain significance	1595822648	RCV001004977;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681172	42681172	15:g.42681172G>A	-
NM_000070.3(CAPN3):c.679G>C (p.Ala227Pro)	825	CAPN3	Uncertain significance	1595822648	RCV001256197;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681172	42681172	15:g.42681172G>C	-
NM_000070.3(CAPN3):c.680C>T (p.Ala227Val)	825	CAPN3	Uncertain significance	1566975567	RCV000731598\|RCV001855660;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681173	42681173	NC_000015.9:g.42681173C>T	-
NM_000070.3(CAPN3):c.688G>C (p.Asp230His)	825	CAPN3	Uncertain significance	2053479765	RCV001036859;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681181	42681181	15:g.42681181G>C	-
NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly)	825	CAPN3	Uncertain significance	1555420629	RCV000671789;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681182	42681182	15:g.42681182A>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.690C>T (p.Asp230=)	825	CAPN3	Likely benign	1315657432	RCV002120457;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681183	42681183	42681183	-
NM_000070.3(CAPN3):c.692T>C (p.Phe231Ser)	825	CAPN3	Uncertain significance	1054458336	RCV002025598;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681185	42681185	42681185	-
NM_000070.3(CAPN3):c.694A>C (p.Thr232Pro)	825	CAPN3	Uncertain significance	886044405	RCV000367015\|RCV001064204;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681187	42681187	15:g.42681187A>C	ClinGen:CA10606714	CN169374 not specified;
NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg)	825	CAPN3	Uncertain significance	886042440	RCV000359000\|RCV000819248;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681193	42681193	NC_000015.9:g.42681193G>A	ClinGen:CA10604244	CN169374 not specified;
NM_000070.3(CAPN3):c.702G>C (p.Gly234=)	825	CAPN3	Likely benign	766821209	RCV001418564;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681195	42681195	42681195	-
NM_000070.3(CAPN3):c.702G>A (p.Gly234=)	825	CAPN3	Likely benign	766821209	RCV001463634;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681195	42681195	42681195	-
NM_000070.3(CAPN3):c.703G>A (p.Val235Met)	825	CAPN3	Uncertain significance	1302248441	RCV001318066;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681196	42681196	42681196	-
NM_000070.3(CAPN3):c.705G>A (p.Val235=)	825	CAPN3	Likely benign	-1	RCV003071535;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681198	42681198		-
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)	825	CAPN3	Benign/Likely benign	1801449	RCV000078102\|RCV000346923\|RCV000399161\|RCV000710095\|RCV001526791;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42681199	42681199	15:g.42681199G>A	ClinGen:CA145726,UniProtKB:P20807#VAR_009567	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.708A>G (p.Ala236=)	825	CAPN3	Likely benign	2141167878	RCV002169030;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681201	42681201	42681201	-
NM_000070.3(CAPN3):c.712T>A (p.Phe238Ile)	825	CAPN3	Uncertain significance	-1	RCV003020112;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681205	42681205	NC_000015.9:g.42681205T>A	-
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val)	825	CAPN3	Uncertain significance	141948992	RCV000726613\|RCV000806753;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681214	42681214	NC_000015.9:g.42681214A>G	ClinGen:CA7511097	CN169374 not specified;
NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys)	825	CAPN3	Uncertain significance	146253209	RCV000313399\|RCV001240554;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681218	42681218	15:g.42681218G>A	ClinGen:CA7511098	CN169374 not specified;
NM_000070.3(CAPN3):c.733C>T (p.Pro245Ser)	825	CAPN3	Uncertain significance	-1	RCV002618132;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681226	42681226	NC_000015.9:g.42681226C>T	-
NM_000070.3(CAPN3):c.739G>A (p.Asp247Asn)	825	CAPN3	Uncertain significance	1251403881	RCV000671070;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681232	42681232	15:g.42681232G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.740A>G (p.Asp247Gly)	825	CAPN3	Uncertain significance	2141168006	RCV001936399;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681233	42681233	42681233	-
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg)	825	CAPN3	Conflicting interpretations of pathogenicity	779939785	RCV000369442\|RCV000700400\|RCV001267486;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MeSH:D030342,MedGen:C0950123	15	42681242	42681242	15:g.42681242A>G	ClinGen:CA7511103	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.753C>T (p.Ile251=)	825	CAPN3	Likely benign	2053483857	RCV001501583;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681246	42681246	42681246	-
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)	825	CAPN3	Conflicting interpretations of pathogenicity	1555420652	RCV000671167\|RCV001553721\|RCV003140069;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374\|MedGen:CN517202	15	42681248	42681248	15:g.42681248T>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.765C>T (p.Ala255=)	825	CAPN3	Likely benign	-1	RCV002890451;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681258	42681258		-
NM_000070.3(CAPN3):c.768C>T (p.Ile256=)	825	CAPN3	Conflicting interpretations of pathogenicity	748032310	RCV000337197\|RCV002518090;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681261	42681261	15:g.42681261C>T	ClinGen:CA7511107	CN169374 not specified;
NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys)	825	CAPN3	Uncertain significance	1368398872	RCV000594917\|RCV001043387;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681262	42681262	15:g.42681262G>A	ClinGen:CA391998344	CN169374 not specified;
NM_000070.3(CAPN3):c.777C>T (p.Gly259=)	825	CAPN3	Likely benign	762739626	RCV002100997;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681270	42681270	42681270	-
NM_000070.3(CAPN3):c.783C>T (p.Leu261=)	825	CAPN3	Conflicting interpretations of pathogenicity	1566975668	RCV000733571\|RCV002535338;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681276	42681276	NC_000015.9:g.42681276C>T	-
NM_000070.3(CAPN3):c.784A>G (p.Met262Val)	825	CAPN3	Uncertain significance	-1	RCV002904555;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681277	42681277	NC_000015.9:g.42681277A>G	-
NM_000070.3(CAPN3):c.784A>T (p.Met262Leu)	825	CAPN3	Uncertain significance	-1	RCV002988461;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681277	42681277	NC_000015.9:g.42681277A>T	-
NM_000070.3(CAPN3):c.791G>A (p.Cys264Tyr)	825	CAPN3	Uncertain significance	2053485296	RCV001062069;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681284	42681284	15:g.42681284G>A	-
NM_000070.3(CAPN3):c.793T>G (p.Ser265Ala)	825	CAPN3	Uncertain significance	2053485355	RCV001332163;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681286	42681286	42681286	-
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro)	825	CAPN3	Conflicting interpretations of pathogenicity	2053485355	RCV001814530\|RCV003339671;	N	Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681286	42681286	42681286	-
NM_000070.3(CAPN3):c.797T>C (p.Ile266Thr)	825	CAPN3	Uncertain significance	761142449	RCV000354708\|RCV000530566;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681290	42681290	15:g.42681290T>C	ClinGen:CA10605761	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.798T>C (p.Ile266=)	825	CAPN3	Likely benign	2141168232	RCV002087842;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681291	42681291	42681291	-
NM_000070.3(CAPN3):c.801T>C (p.Asp267=)	825	CAPN3	Uncertain significance	1271482252	RCV001340244;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681294	42681294	42681294	-
NM_000070.3(CAPN3):c.801+3A>C	825	CAPN3	Uncertain significance	-1	RCV002858322;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681297	42681297	NC_000015.9:g.42681297A>C	-
NM_000070.3(CAPN3):c.801+8_801+9del	825	CAPN3	Likely benign	764551615	RCV001506281;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681302	42681303	42681301	-
NM_000070.3(CAPN3):c.801+10G>A	825	CAPN3	Likely benign	2141168252	RCV002084243;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681304	42681304	42681304	-
NM_000070.3(CAPN3):c.801+13T>G	825	CAPN3	Likely benign	-1	RCV002638011;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681307	42681307	NC_000015.9:g.42681307T>G	-
NM_000070.3(CAPN3):c.801+15T>C	825	CAPN3	Likely benign	-1	RCV003083350;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681309	42681309	NC_000015.9:g.42681309T>C	-
NM_000070.3(CAPN3):c.801+19G>A	825	CAPN3	Likely benign	767858015	RCV000602254\|RCV002531583;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42681313	42681313	15:g.42681313G>A	ClinGen:CA7511115	CN169374 not specified;
NM_000070.3(CAPN3):c.802-10C>T	825	CAPN3	Conflicting interpretations of pathogenicity	747895099	RCV000288147\|RCV001446184;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682141	42682141	15:g.42682141C>T	ClinGen:CA10605847	CN169374 not specified;
NM_000070.3(CAPN3):c.802-8G>C	825	CAPN3	Likely benign	2141170176	RCV002075345;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682143	42682143	42682143	-
NM_000070.3(CAPN3):c.802-3C>T	825	CAPN3	Uncertain significance	1376586945	RCV001229232;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682148	42682148	15:g.42682148C>T	-
NM_000070.3(CAPN3):c.807C>T (p.Gly269=)	825	CAPN3	Likely benign	-1	RCV002824475;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682156	42682156		-
NM_000070.3(CAPN3):c.809C>T (p.Thr270Met)	825	CAPN3	Uncertain significance	1219356790	RCV001117619;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682158	42682158	15:g.42682158C>T	-
NM_000070.3(CAPN3):c.810G>A (p.Thr270=)	825	CAPN3	Likely benign	777076120	RCV000871527;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682159	42682159	15:g.42682159G>A	-
NM_000070.3(CAPN3):c.810G>C (p.Thr270=)	825	CAPN3	Likely benign	777076120	RCV001458312;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682159	42682159	42682159	-
NM_000070.3(CAPN3):c.813C>G (p.Asn271Lys)	825	CAPN3	Conflicting interpretations of pathogenicity	765292152	RCV000481092\|RCV001851202;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682162	42682162	15:g.42682162C>G	ClinGen:CA16619927	CN169374 not specified;
NM_000070.3(CAPN3):c.814A>G (p.Met272Val)	825	CAPN3	Uncertain significance	-1	RCV002664089;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682163	42682163	NC_000015.9:g.42682163A>G	-
NM_000070.3(CAPN3):c.821A>G (p.Tyr274Cys)	825	CAPN3	Uncertain significance	138914944	RCV001248612;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682170	42682170	15:g.42682170A>G	-
NM_000070.3(CAPN3):c.828C>T (p.Thr276=)	825	CAPN3	Likely benign	2141170297	RCV001394719;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682177	42682177	42682177	-
NM_000070.3(CAPN3):c.830C>T (p.Ser277Phe)	825	CAPN3	Uncertain significance	-1	RCV002919186\|RCV002922847;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MeSH:D030342,MedGen:C0950123	15	42682179	42682179	NC_000015.9:g.42682179C>T	-
NM_000070.3(CAPN3):c.835_837del (p.Ser279del)	825	CAPN3	Uncertain significance	776185666	RCV000668327;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682182	42682184	15:g.42682182_42682184del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro)	825	CAPN3	Uncertain significance	755930521	RCV000389326\|RCV000543605;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682184	42682184	15:g.42682184T>C	ClinGen:CA7511144	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.843G>C (p.Leu281=)	825	CAPN3	Likely benign	1178669557	RCV002191212;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682192	42682192	42682192	-
NM_000070.3(CAPN3):c.847A>G (p.Met283Val)	825	CAPN3	Uncertain significance	756786521	RCV001297611\|RCV002221272;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|Human Phenotype Ontology:HP:0006785,Human Phenotype Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353, Orphanet:263	15	42682196	42682196	42682196	-
NM_000070.3(CAPN3):c.856T>C (p.Leu286=)	825	CAPN3	Likely benign	2141170359	RCV001475795;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682205	42682205	42682205	-
NM_000070.3(CAPN3):c.859A>G (p.Ile287Val)	825	CAPN3	Uncertain significance	1595823793	RCV001302847\|RCV003145535;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42682208	42682208	42682208	-
NM_000070.3(CAPN3):c.864A>G (p.Ala288=)	825	CAPN3	Uncertain significance	1555420768	RCV000591199\|RCV001278221;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682213	42682213	15:g.42682213A>G	ClinGen:CA489878957	CN169374 not specified;
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln)	825	CAPN3	Uncertain significance	775084606	RCV000812497\|RCV003229866;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42682215	42682215	15:g.42682215G>A	-
NM_000070.3(CAPN3):c.868A>T (p.Met290Leu)	825	CAPN3	Uncertain significance	747399155	RCV000347706\|RCV000822225;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682217	42682217	NC_000015.9:g.42682217A>T	ClinGen:CA7511153	CN169374 not specified;
NM_000070.3(CAPN3):c.874A>T (p.Arg292Trp)	825	CAPN3	Uncertain significance	1555420773	RCV000644981;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682223	42682223	NC_000015.9:g.42682223A>T	ClinGen:CA391998575	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.876G>A (p.Arg292=)	825	CAPN3	Likely benign	-1	RCV003091592;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682225	42682225		-
NM_000070.3(CAPN3):c.882G>A (p.Met294Ile)	825	CAPN3	Uncertain significance	2141170446	RCV001932843;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682231	42682231	42682231	-
NM_000070.3(CAPN3):c.892C>T (p.Leu298=)	825	CAPN3	Likely benign	-1	RCV003043606;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682241	42682241		-
NM_000070.3(CAPN3):c.896T>A (p.Leu299His)	825	CAPN3	Uncertain significance	985712258	RCV001373717;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682245	42682245	42682245	-
NM_000070.3(CAPN3):c.897C>A (p.Leu299=)	825	CAPN3	Conflicting interpretations of pathogenicity	370313391	RCV000728177\|RCV001080817;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682246	42682246	NC_000015.9:g.42682246C>A	-
NM_000070.3(CAPN3):c.903C>A (p.Asp301Glu)	825	CAPN3	Uncertain significance	2141170523	RCV001360398;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682252	42682252	42682252	-
NM_000070.3(CAPN3):c.912C>G (p.Leu304=)	825	CAPN3	Likely benign	374702796	RCV001452079;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682261	42682261	42682261	-
NM_000070.3(CAPN3):c.912C>T (p.Leu304=)	825	CAPN3	Likely benign	-1	RCV002663998;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682261	42682261		-
NM_000070.3(CAPN3):c.913G>A (p.Asp305Asn)	825	CAPN3	Uncertain significance	753780627	RCV001117620;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682262	42682262	15:g.42682262G>A	-
NM_000070.3(CAPN3):c.913G>C (p.Asp305His)	825	CAPN3	Uncertain significance	753780627	RCV001932708;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682262	42682262	42682262	-
NM_000070.3(CAPN3):c.915C>T (p.Asp305=)	825	CAPN3	Likely benign	757200858	RCV001428075;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682264	42682264	42682264	-
NM_000070.3(CAPN3):c.916C>T (p.Pro306Ser)	825	CAPN3	Uncertain significance	-1	RCV003029756;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682265	42682265	NC_000015.9:g.42682265C>T	-
NM_000070.3(CAPN3):c.917C>T (p.Pro306Leu)	825	CAPN3	Uncertain significance	1192202929	RCV001306047;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682266	42682266	42682266	-
NM_000070.3(CAPN3):c.918C>T (p.Pro306=)	825	CAPN3	Likely benign	2141170580	RCV001437778;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682267	42682267	42682267	-
NM_000070.3(CAPN3):c.921A>G (p.Arg307=)	825	CAPN3	Likely benign	2141170591	RCV002183431;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682270	42682270	42682270	-
NM_000070.3(CAPN3):c.928G>A (p.Asp310Asn)	825	CAPN3	Uncertain significance	-1	RCV002886566;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682277	42682277	NC_000015.9:g.42682277G>A	-
NM_000070.3(CAPN3):c.930T>C (p.Asp310=)	825	CAPN3	Conflicting interpretations of pathogenicity	150356488	RCV000275858\|RCV000532053\|RCV001697700;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42682279	42682279	15:g.42682279T>C	ClinGen:CA7511168	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu)	825	CAPN3	Uncertain significance	752483058	RCV000302680\|RCV000358682\|RCV000406817\|RCV000725159;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374\|MedGen:CN517202	15	42682287	42682287	15:g.42682287C>T	ClinGen:CA7511170	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.939G>A (p.Pro313=)	825	CAPN3	Benign/Likely benign	78369269	RCV000116547\|RCV000711023\|RCV001085863;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682288	42682288	15:g.42682288G>A	ClinGen:CA152144	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.942C>T (p.Thr314=)	825	CAPN3	Likely benign	-1	RCV002663181;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682291	42682291		-
NM_000070.3(CAPN3):c.943C>T (p.Arg315Trp)	825	CAPN3	Uncertain significance	748651267	RCV002023630;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682292	42682292	42682292	-
NM_000070.3(CAPN3):c.944G>A (p.Arg315Gln)	825	CAPN3	Uncertain significance	201155077	RCV000807127;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682293	42682293	15:g.42682293G>A	-
NM_000070.3(CAPN3):c.945G>C (p.Arg315=)	825	CAPN3	Uncertain significance	-1	RCV002580407;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682294	42682294		-
NM_000070.3(CAPN3):c.945+5G>A	825	CAPN3	Uncertain significance	773547765	RCV000557483;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682299	42682299	15:g.42682299G>A	ClinGen:CA7511175	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.945+8C>T	825	CAPN3	Likely benign	2053515736	RCV002204618;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682302	42682302	42682302	-
NM_000070.3(CAPN3):c.945+9A>G	825	CAPN3	Likely benign	1419203553	RCV000883256;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682303	42682303	15:g.42682303A>G	-
NM_000070.3(CAPN3):c.945+14C>T	825	CAPN3	Conflicting interpretations of pathogenicity	763112832	RCV000424719\|RCV001119211;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682308	42682308	15:g.42682308C>T	ClinGen:CA7511176	CN169374 not specified;
NM_000070.3(CAPN3):c.945+15G>A	825	CAPN3	Conflicting interpretations of pathogenicity	567256305	RCV000602800\|RCV001119212;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682309	42682309	15:g.42682309G>A	ClinGen:CA7511177	CN169374 not specified;
NM_000070.3(CAPN3):c.945+15G>T	825	CAPN3	Likely benign	-1	RCV002604515;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682309	42682309	NC_000015.9:g.42682309G>T	-
NM_000070.3(CAPN3):c.945+17T>A	825	CAPN3	Likely benign	774783950	RCV002078252;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42682311	42682311	42682311	-
NM_000070.3(CAPN3):c.946-29del	825	CAPN3	Conflicting interpretations of pathogenicity	1595826640	RCV001004860\|RCV003461310\|RCV003145251;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MedGen:C3661900	15	42684808	42684808	15:g.42684808_42684808del	-
NM_000070.3(CAPN3):c.946-9_946-5del	825	CAPN3	Likely benign	758101156	RCV001227541;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684826	42684830	15:g.42684826_42684830del	-
NM_000070.3(CAPN3):c.946-5T>C	825	CAPN3	Likely benign	2141176666	RCV001448209;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684832	42684832	42684832	-
NM_000070.3(CAPN3):c.946-4A>G	825	CAPN3	Likely benign	2141176675	RCV001479404;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684833	42684833	42684833	-
NM_000070.3(CAPN3):c.947C>T (p.Thr316Ile)	825	CAPN3	Uncertain significance	1489416145	RCV001278222;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684838	42684838	15:g.42684838C>T	-
NM_000070.3(CAPN3):c.948A>T (p.Thr316=)	825	CAPN3	Likely benign	2141176700	RCV001489087;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684839	42684839	42684839	-
NM_000070.3(CAPN3):c.948A>G (p.Thr316=)	825	CAPN3	Likely benign	-1	RCV002786505;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684839	42684839		-
NM_000070.3(CAPN3):c.949A>G (p.Ile317Val)	825	CAPN3	Uncertain significance	759881880	RCV001248126;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684840	42684840	15:g.42684840A>G	-
NM_000070.3(CAPN3):c.950T>C (p.Ile317Thr)	825	CAPN3	Uncertain significance	371362494	RCV000325347\|RCV001278223;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684841	42684841	15:g.42684841T>C	ClinGen:CA7511200	CN169374 not specified;
NM_000070.3(CAPN3):c.951C>T (p.Ile317=)	825	CAPN3	Likely benign	775525936	RCV002091711;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684842	42684842	42684842	-
NM_000070.3(CAPN3):c.958G>T (p.Val320Phe)	825	CAPN3	Uncertain significance	1555421055	RCV000673995;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684849	42684849	15:g.42684849G>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)	825	CAPN3	Uncertain significance	149591108	RCV000669900\|RCV000761907\|RCV001731872;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MedGen:CN169374	15	42684855	42684855	15:g.42684855T>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.965A>G (p.Tyr322Cys)	825	CAPN3	Uncertain significance	2053589191	RCV001278224;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684856	42684856	15:g.42684856A>G	-
NM_000070.3(CAPN3):c.980C>G (p.Ala327Gly)	825	CAPN3	Uncertain significance	754441267	RCV000306144\|RCV000392641;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352	15	42684871	42684871	NC_000015.9:g.42684871C>G	ClinGen:CA7511207	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.981C>T (p.Ala327=)	825	CAPN3	Likely benign	2141176870	RCV002192643;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684872	42684872	42684872	-
NM_000070.3(CAPN3):c.982T>C (p.Cys328Arg)	825	CAPN3	Uncertain significance	-1	RCV003071059;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684873	42684873	NC_000015.9:g.42684873T>C	-
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)	825	CAPN3	Benign/Likely benign	28364441	RCV000152921\|RCV000538067\|RCV001573447\|RCV002505162\|RCV003242993;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MeSH:D030342,MedGen:C0950123	15	42684875	42684875	15:g.42684875C>T	ClinGen:CA179838	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)	825	CAPN3	Conflicting interpretations of pathogenicity	1085307995	RCV000669275\|RCV003459611;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42684876	42684876	15:g.42684876G>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.987G>T (p.Gly329=)	825	CAPN3	Likely benign	2141176899	RCV001422322;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684878	42684878	42684878	-
NM_000070.3(CAPN3):c.988C>T (p.Leu330=)	825	CAPN3	Likely benign	-1	RCV002630595;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684879	42684879		-
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp)	825	CAPN3	Uncertain significance	200580015	RCV000596414\|RCV000667297\|RCV002282259\|RCV002506428;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42684889	42684889	15:g.42684889G>A	ClinGen:CA7511209	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)	825	CAPN3	Conflicting interpretations of pathogenicity	749863676	RCV000544623\|RCV000711012\|RCV002469098;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MedGen:CN169374	15	42684892	42684892	15:g.42684892A>T	ClinGen:CA7511211	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1002C>T (p.His334=)	825	CAPN3	Conflicting interpretations of pathogenicity	374833797	RCV001119213;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684893	42684893	15:g.42684893C>T	-
NM_000070.3(CAPN3):c.1003G>A (p.Ala335Thr)	825	CAPN3	Uncertain significance	779526097	RCV001240158\|RCV002563967;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MeSH:D030342,MedGen:C0950123	15	42684894	42684894	15:g.42684894G>A	-
NM_000070.3(CAPN3):c.1005C>G (p.Ala335=)	825	CAPN3	Likely benign	369062480	RCV002166084;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684896	42684896	42684896	-
NM_000070.3(CAPN3):c.1005C>T (p.Ala335=)	825	CAPN3	Likely benign	369062480	RCV002157184;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684896	42684896	42684896	-
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp)	825	CAPN3	Uncertain significance	745967703	RCV000644987;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684897	42684897	NC_000015.9:g.42684897T>G	ClinGen:CA7511214	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1012G>C (p.Val338Leu)	825	CAPN3	Uncertain significance	771608215	RCV001249365\|RCV001751512;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42684903	42684903	15:g.42684903G>C	-
NM_000070.3(CAPN3):c.1016C>T (p.Thr339Met)	825	CAPN3	Uncertain significance	747193982	RCV001227470;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684907	42684907	15:g.42684907C>T	-
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=)	825	CAPN3	Benign/Likely benign	141934227	RCV000337035\|RCV000645004;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684908	42684908	15:g.42684908G>A	ClinGen:CA7511219	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1020G>T (p.Gly340=)	825	CAPN3	Conflicting interpretations of pathogenicity	372401631	RCV000343857\|RCV001087287;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684911	42684911	15:g.42684911G>T	ClinGen:CA7511220	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1029+3A>G	825	CAPN3	Benign/Likely benign	28364442	RCV000078085\|RCV000353930\|RCV000514496\|RCV001084335;	N	MedGen:CN169374\|MedGen:CN239352\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684923	42684923	15:g.42684923A>G	ClinGen:CA145716	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.1029+4A>G	825	CAPN3	Uncertain significance	-1	RCV002750800;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684924	42684924	NC_000015.9:g.42684924A>G	-
NM_000070.3(CAPN3):c.1029+17_1029+26dup	825	CAPN3	Likely benign	754919270	RCV001914244;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684927	42684928	42684927	-
NM_000070.3(CAPN3):c.1029+10G>C	825	CAPN3	Likely benign	1392805773	RCV002065874;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684930	42684930	15:g.42684930G>C	-
NM_000070.3(CAPN3):c.1029+17T>C	825	CAPN3	Likely benign	2141177118	RCV002170111;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42684937	42684937	42684937	-
NM_000070.3(CAPN3):c.1030-14T>C	825	CAPN3	Uncertain significance	-1	RCV002631251;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686440	42686440	NC_000015.9:g.42686440T>C	-
NM_000070.3(CAPN3):c.1030-7G>A	825	CAPN3	Conflicting interpretations of pathogenicity	886043344	RCV000285940\|RCV001479502;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686447	42686447	15:g.42686447G>A	ClinGen:CA10605405	CN169374 not specified;
NM_000070.3(CAPN3):c.1030-6dup	825	CAPN3	Likely benign	1595828535	RCV001440910;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686447	42686448	15:g.42686447_42686448insC	-
NM_000070.3(CAPN3):c.1030-5T>C	825	CAPN3	Likely benign	2141180632	RCV002218074;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686449	42686449	42686449	-
NM_000070.3(CAPN3):c.1030-4T>C	825	CAPN3	Likely benign	2141180641	RCV002116790;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686450	42686450	42686450	-
NM_000070.3(CAPN3):c.1034C>G (p.Pro345Arg)	825	CAPN3	Uncertain significance	746311413	RCV000283988\|RCV000644991;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686458	42686458	15:g.42686458C>G	ClinGen:CA10606387	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1034C>T (p.Pro345Leu)	825	CAPN3	Uncertain significance	746311413	RCV001244833\|RCV003145482;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42686458	42686458	15:g.42686458C>T	-
NM_000070.3(CAPN3):c.1035G>A (p.Pro345=)	825	CAPN3	Likely benign	1203522520	RCV001423415;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686459	42686459	42686459	-
NM_000070.3(CAPN3):c.1035G>T (p.Pro345=)	825	CAPN3	Likely benign	1203522520	RCV002109894;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686459	42686459	42686459	-
NM_000070.3(CAPN3):c.1040A>G (p.Lys347Arg)	825	CAPN3	Uncertain significance	2141180698	RCV002048044;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686464	42686464	42686464	-
NM_000070.3(CAPN3):c.1042G>A (p.Gly348Ser)	825	CAPN3	Uncertain significance	-1	RCV002610293;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686466	42686466	NC_000015.9:g.42686466G>A	-
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln)	825	CAPN3	Conflicting interpretations of pathogenicity	146403258	RCV000261355\|RCV000318913\|RCV000485851;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352\|MedGen:CN517202	15	42686469	42686469	NC_000015.9:g.42686469G>C	ClinGen:CA7511234	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.1050A>G (p.Lys350=)	825	CAPN3	Likely benign	-1	RCV002862296;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686474	42686474		-
NM_000070.3(CAPN3):c.1058T>C (p.Leu353Pro)	825	CAPN3	Uncertain significance	-1	RCV003041222;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686482	42686482	NC_000015.9:g.42686482T>C	-
NM_000070.3(CAPN3):c.1062G>A (p.Val354=)	825	CAPN3	Conflicting interpretations of pathogenicity	776793553	RCV001470171\|RCV001559254;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42686486	42686486	42686486	-
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)	825	CAPN3	Conflicting interpretations of pathogenicity	774273767	RCV000591299\|RCV000673918\|RCV003471959;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42686493	42686493	15:g.42686493C>T	ClinGen:CA7511241	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)	825	CAPN3	Conflicting interpretations of pathogenicity	988027905	RCV000493163\|RCV000667745\|RCV001731719;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015	15	42686494	42686494	15:g.42686494G>A	ClinGen:CA269840817	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)	825	CAPN3	Conflicting interpretations of pathogenicity	794727895	RCV000180098\|RCV001332158\|RCV003474937;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42686500	42686500	15:g.42686500C>T	ClinGen:CA247490	CN169374 not specified;
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=)	825	CAPN3	Likely benign	759384108	RCV000950979;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686501	42686501	15:g.42686501G>A	-
NM_000070.3(CAPN3):c.1082G>A (p.Gly361Asp)	825	CAPN3	Uncertain significance	886043290	RCV000277240\|RCV001859638;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686506	42686506	15:g.42686506G>A	ClinGen:CA10605341	CN169374 not specified;
NM_000070.3(CAPN3):c.1098C>T (p.Asn366=)	825	CAPN3	Likely benign	1026642848	RCV001456476;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686522	42686522	42686522	-
NM_000070.3(CAPN3):c.1098C>A (p.Asn366Lys)	825	CAPN3	Uncertain significance	-1	RCV002644293;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686522	42686522	NC_000015.9:g.42686522C>A	-
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)	825	CAPN3	Conflicting interpretations of pathogenicity	767106920	RCV000537811\|RCV002282221\|RCV002491061\|RCV003144340\|RCV003476295;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MedGen:C3661900\|M	15	42686523	42686523	NC_000015.9:g.42686523G>A	ClinGen:CA7511243	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1104T>G (p.Ser368=)	825	CAPN3	Likely benign	-1	RCV003078647;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686528	42686528		-
NM_000070.3(CAPN3):c.1113T>A (p.Asp371Glu)	825	CAPN3	Uncertain significance	774834498	RCV001195873\|RCV002559245;	N	MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686537	42686537	15:g.42686537T>A	-
NM_000070.3(CAPN3):c.1113T>C (p.Asp371=)	825	CAPN3	Likely benign	-1	RCV002852561;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686537	42686537		-
NM_000070.3(CAPN3):c.1115+5G>C	825	CAPN3	Conflicting interpretations of pathogenicity	886039597	RCV000255970\|RCV000822784;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686544	42686544	NC_000015.9:g.42686544G>C	ClinGen:CA10588583	CN517202 not provided;
NM_000070.3(CAPN3):c.1115+8A>G	825	CAPN3	Conflicting interpretations of pathogenicity	760196248	RCV000283230\|RCV001078559;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42686547	42686547	15:g.42686547A>G	ClinGen:CA7511245	CN169374 not specified;
NM_000070.3(CAPN3):c.1116-8C>T	825	CAPN3	Likely benign	2141186273	RCV002192128;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42688990	42688990	42688990	-
NM_000070.3(CAPN3):c.1116-6C>T	825	CAPN3	Likely benign	2141186283	RCV002185530;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42688992	42688992	42688992	-
NM_000070.3(CAPN3):c.1116-5A>G	825	CAPN3	Benign/Likely benign	28364467	RCV000152922\|RCV000711014\|RCV001082922;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42688993	42688993	15:g.42688993A>G	ClinGen:CA179840	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1116-5A>T	825	CAPN3	Likely benign	28364467	RCV001409140;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42688993	42688993	15:g.42688993A>T	-
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	825	CAPN3	Conflicting interpretations of pathogenicity	775453643	RCV000201159\|RCV000710091\|RCV001814104\|RCV003462345;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42688999	42688999	15:g.42688999T>C	ClinGen:CA347568	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1123G>C (p.Asp375His)	825	CAPN3	Uncertain significance	2053707997	RCV001278225;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689005	42689005	15:g.42689005G>C	-
NM_000070.3(CAPN3):c.1123G>A (p.Asp375Asn)	825	CAPN3	Uncertain significance	-1	RCV002290156;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689005	42689005	42689005	-
NM_000070.3(CAPN3):c.1125C>T (p.Asp375=)	825	CAPN3	Likely benign	1250060692	RCV002138614;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689007	42689007	42689007	-
NM_000070.3(CAPN3):c.1130G>A (p.Ser377Asn)	825	CAPN3	Uncertain significance	760121531	RCV000704336;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689012	42689012	15:g.42689012G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1131C>T (p.Ser377=)	825	CAPN3	Likely benign	2141186364	RCV001481729;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689013	42689013	42689013	-
NM_000070.3(CAPN3):c.1132T>C (p.Phe378Leu)	825	CAPN3	Uncertain significance	1595831381	RCV000811201;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689014	42689014	15:g.42689014T>C	-
NM_000070.3(CAPN3):c.1137G>A (p.Val379=)	825	CAPN3	Likely benign	2141186373	RCV001481530;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689019	42689019	42689019	-
NM_000070.3(CAPN3):c.1154C>T (p.Ala385Val)	825	CAPN3	Uncertain significance	934135114	RCV001916456;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689036	42689036	42689036	-
NM_000070.3(CAPN3):c.1155C>T (p.Ala385=)	825	CAPN3	Likely benign	2053708728	RCV001419288;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689037	42689037	42689037	-
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys)	825	CAPN3	Uncertain significance	919442493	RCV000673176;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689038	42689038	15:g.42689038C>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1157G>A (p.Arg386His)	825	CAPN3	Uncertain significance	376273996	RCV001278226\|RCV003145508;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42689039	42689039	15:g.42689039G>A	-
NM_000070.3(CAPN3):c.1159C>T (p.Leu387=)	825	CAPN3	Likely benign	1225970825	RCV001424765;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689041	42689041	42689041	-
NM_000070.3(CAPN3):c.1163A>G (p.Gln388Arg)	825	CAPN3	Uncertain significance	2141186439	RCV001938874;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689045	42689045	42689045	-
NM_000070.3(CAPN3):c.1173C>T (p.Val391=)	825	CAPN3	Likely benign	-1	RCV002903442;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689055	42689055		-
NM_000070.3(CAPN3):c.1176T>C (p.Thr392=)	825	CAPN3	Likely benign	-1	RCV002668005;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689058	42689058		-
NM_000070.3(CAPN3):c.1183G>A (p.Gly395Arg)	825	CAPN3	Uncertain significance	1595831427	RCV000811593;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689065	42689065	15:g.42689065G>A	-
NM_000070.3(CAPN3):c.1188G>A (p.Glu396=)	825	CAPN3	Likely benign	370355559	RCV000923305;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689070	42689070	15:g.42689070G>A	-
NM_000070.3(CAPN3):c.1192T>C (p.Trp398Arg)	825	CAPN3	Uncertain significance	2053709952	RCV001040298;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689074	42689074	15:g.42689074T>C	-
NM_000070.3(CAPN3):c.1193+6T>A	825	CAPN3	Conflicting interpretations of pathogenicity	1555421532	RCV001004974\|RCV001310746\|RCV003235444;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015	15	42689081	42689081	15:g.42689081T>A	-
NM_000070.3(CAPN3):c.1193+8C>G	825	CAPN3	Likely benign	2141186533	RCV001426816;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689083	42689083	42689083	-
NM_000070.3(CAPN3):c.1193+10G>C	825	CAPN3	Likely benign	374740787	RCV002189714;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689085	42689085	42689085	-
NM_000070.3(CAPN3):c.1193+17G>A	825	CAPN3	Likely benign	1275648012	RCV002085860;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42689092	42689092	42689092	-
NM_000070.3(CAPN3):c.1194-26C>G	825	CAPN3	Benign	3743003	RCV000244800\|RCV000837853\|RCV001526792\|RCV001526793;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691664	42691664	NC_000015.9:g.42691664C>G	ClinGen:CA7511284	CN169374 not specified;
NM_000070.3(CAPN3):c.1194-20C>T	825	CAPN3	Likely benign	371704768	RCV002170629;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691670	42691670	42691670	-
NM_000070.3(CAPN3):c.1194-19T>A	825	CAPN3	Likely benign	994750194	RCV002198435;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691671	42691671	42691671	-
NM_000070.3(CAPN3):c.1194-8C>T	825	CAPN3	Likely benign	576894203	RCV001437855;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691682	42691682	42691682	-
NM_000070.3(CAPN3):c.1194-7C>A	825	CAPN3	Likely benign	756139485	RCV001455716;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691683	42691683	42691683	-
NM_000070.3(CAPN3):c.1194-7C>T	825	CAPN3	Likely benign	756139485	RCV002201745;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691683	42691683	42691683	-
NM_000070.3(CAPN3):c.1194-5C>T	825	CAPN3	Likely benign	2141193516	RCV002180347;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691685	42691685	42691685	-
NM_000070.3(CAPN3):c.1198T>A (p.Ser400Thr)	825	CAPN3	Uncertain significance	367863862	RCV000801120\|RCV003144617;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42691694	42691694	15:g.42691694T>A	-
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)	825	CAPN3	Conflicting interpretations of pathogenicity	371784007	RCV000668931\|RCV000728828\|RCV002507166;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691698	42691698	15:g.42691698A>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1211T>C (p.Phe404Ser)	825	CAPN3	Uncertain significance	2141193571	RCV001923467;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691707	42691707	42691707	-
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)	825	CAPN3	Conflicting interpretations of pathogenicity	111806046	RCV000396394\|RCV001087973;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691723	42691723	15:g.42691723A>G	ClinGen:CA7511296	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1227A>C (p.Thr409=)	825	CAPN3	Conflicting interpretations of pathogenicity	111806046	RCV001088795\|RCV000732854;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42691723	42691723	NC_000015.9:g.42691723A>C	ClinGen:CA7511295	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1227A>T (p.Thr409=)	825	CAPN3	Uncertain significance	111806046	RCV001121212;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691723	42691723	15:g.42691723A>T	-
NM_000070.3(CAPN3):c.1231T>C (p.Leu411=)	825	CAPN3	Likely benign	781232391	RCV001472366;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691727	42691727	42691727	-
NM_000070.3(CAPN3):c.1233G>A (p.Leu411=)	825	CAPN3	Likely benign	2141193634	RCV001490281;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691729	42691729	42691729	-
NM_000070.3(CAPN3):c.1239C>T (p.Ile413=)	825	CAPN3	Likely benign	-1	RCV002938278;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691735	42691735		-
NM_000070.3(CAPN3):c.1244A>G (p.Asn415Ser)	825	CAPN3	Uncertain significance	769367343	RCV001278227\|RCV003166604;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MeSH:D030342,MedGen:C0950123	15	42691740	42691740	15:g.42691740A>G	-
NM_000070.3(CAPN3):c.1248C>T (p.Leu416=)	825	CAPN3	Likely benign	1408467756	RCV001445130;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691744	42691744	42691744	-
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)	825	CAPN3	Conflicting interpretations of pathogenicity	151090625	RCV000286857\|RCV001121213;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691747	42691747	15:g.42691747G>A	ClinGen:CA7511302	CN169374 not specified;
NM_000070.3(CAPN3):c.1251G>C (p.Thr417=)	825	CAPN3	Likely benign	151090625	RCV001451852;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691747	42691747	42691747	-
NM_000070.3(CAPN3):c.1251G>T (p.Thr417=)	825	CAPN3	Likely benign	151090625	RCV001500689;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691747	42691747	42691747	-
NM_000070.3(CAPN3):c.1254C>T (p.Ala418=)	825	CAPN3	Likely benign	774754175	RCV001411368;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691750	42691750	42691750	-
NM_000070.3(CAPN3):c.1255G>A (p.Asp419Asn)	825	CAPN3	Uncertain significance	1177153235	RCV001878727;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691751	42691751	42691751	-
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)	825	CAPN3	Conflicting interpretations of pathogenicity	886042895	RCV000596878\|RCV000778428\|RCV003463755;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691752	42691752	NC_000015.9:g.42691752A>G	ClinGen:CA10604828
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)	825	CAPN3	Conflicting interpretations of pathogenicity	139836397	RCV000342508\|RCV000813198\|RCV003475898;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691753	42691753	NC_000015.9:g.42691753T>G	ClinGen:CA7511304	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=)	825	CAPN3	Conflicting interpretations of pathogenicity	372450879	RCV000731053\|RCV001083523;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691759	42691759	15:g.42691759G>A	ClinGen:CA7511306	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1265A>G (p.Gln422Arg)	825	CAPN3	not provided	2141193741	RCV001779554;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691761	42691761	42691761	-
NM_000070.3(CAPN3):c.1269T>C (p.Ser423=)	825	CAPN3	Likely benign	760749559	RCV001458792;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691765	42691765	42691765	-
NM_000070.3(CAPN3):c.1277T>C (p.Leu426Pro)	825	CAPN3	Uncertain significance	2141193792	RCV001913548;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691773	42691773	42691773	-
NM_000070.3(CAPN3):c.1289C>A (p.Thr430Lys)	825	CAPN3	Uncertain significance	199725329	RCV001319367;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691785	42691785	42691785	-
NM_000070.3(CAPN3):c.1290A>G (p.Thr430=)	825	CAPN3	Conflicting interpretations of pathogenicity	757482856	RCV000733402\|RCV001505879;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691786	42691786	NC_000015.9:g.42691786A>G	-
NM_000070.3(CAPN3):c.1291G>C (p.Val431Leu)	825	CAPN3	Uncertain significance	-1	RCV002615169;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691787	42691787	NC_000015.9:g.42691787G>C	-
NM_000070.3(CAPN3):c.1292T>C (p.Val431Ala)	825	CAPN3	Uncertain significance	199625801	RCV000486846\|RCV000644979;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691788	42691788	15:g.42691788T>C	ClinGen:CA7511311	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1293G>A (p.Val431=)	825	CAPN3	Likely benign	1009544440	RCV001278228;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691789	42691789	15:g.42691789G>A	-
NM_000070.3(CAPN3):c.1296T>C (p.Ser432=)	825	CAPN3	Likely benign	2141193841	RCV002185310;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691792	42691792	42691792	-
NM_000070.3(CAPN3):c.1301_1304del (p.Asn434fs)	825	CAPN3	Uncertain significance	1566979465	RCV000778429;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691795	42691798	NC_000015.9:g.42691797_42691800del	-
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)	825	CAPN3	Conflicting interpretations of pathogenicity	751429914	RCV000253878\|RCV000669405\|RCV000892233;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42691798	42691798	NC_000015.9:g.42691798C>T	ClinGen:CA7511312	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1308C>T (p.Gly436=)	825	CAPN3	Likely benign	372968945	RCV000433674\|RCV000918085;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691804	42691804	15:g.42691804C>T	ClinGen:CA7511315	CN169374 not specified;
NM_000070.3(CAPN3):c.1310G>T (p.Arg437Leu)	825	CAPN3	Uncertain significance	-1	RCV002671663;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691806	42691806	NC_000015.9:g.42691806G>T	-
NM_000070.3(CAPN3):c.1314G>C (p.Trp438Cys)	825	CAPN3	Uncertain significance	2053807675	RCV001350563;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691810	42691810	42691810	-
NM_000070.3(CAPN3):c.1322G>A (p.Gly441Asp)	825	CAPN3	Uncertain significance	-1	RCV003041224;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691818	42691818	NC_000015.9:g.42691818G>A	-
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)	825	CAPN3	Uncertain significance	1595834751	RCV000820146\|RCV003392624\|RCV003145204;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|\|MedGen:C3661900	15	42691823	42691823	15:g.42691823T>C	-
NM_000070.3(CAPN3):c.1328C>T (p.Ser443Phe)	825	CAPN3	Uncertain significance	1471965884	RCV000793038;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691824	42691824	15:g.42691824C>T	-
NM_000070.3(CAPN3):c.1332C>T (p.Ala444=)	825	CAPN3	Conflicting interpretations of pathogenicity	886042968	RCV000322207\|RCV001434526;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691828	42691828	15:g.42691828C>T	ClinGen:CA10604936	CN169374 not specified;
NM_000070.3(CAPN3):c.1334G>A (p.Gly445Glu)	825	CAPN3	Uncertain significance	1555421875	RCV000527055;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691830	42691830	15:g.42691830G>A	ClinGen:CA391999606	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1336G>A (p.Gly446Ser)	825	CAPN3	Uncertain significance	886042857	RCV000397376\|RCV000707427\|RCV002282103;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374	15	42691832	42691832	15:g.42691832G>A	ClinGen:CA10604779	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1344C>T (p.Arg448=)	825	CAPN3	Uncertain significance	-1	RCV002994425;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691840	42691840		-
NM_000070.3(CAPN3):c.1345A>G (p.Asn449Asp)	825	CAPN3	Uncertain significance	886043144	RCV001924937;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691841	42691841	42691841	-
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)	825	CAPN3	Conflicting interpretations of pathogenicity	144944366	RCV000272201\|RCV000645006\|RCV001697735;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42691846	42691846	15:g.42691846C>T	ClinGen:CA7511325	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1354G>C (p.Asp452His)	825	CAPN3	Conflicting interpretations of pathogenicity	727503838	RCV000668768\|RCV003459600;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42691850	42691850	15:g.42691850G>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1354+8A>G	825	CAPN3	Uncertain significance	2053810204	RCV001352130;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691858	42691858	42691858	-
NM_000070.3(CAPN3):c.1354+20G>C	825	CAPN3	Likely benign	373486893	RCV002179615;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42691870	42691870	42691870	-
NM_000070.3(CAPN3):c.1355-10G>A	825	CAPN3	Uncertain significance	1388234925	RCV001358869;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693829	42693829	42693829	-
NM_000070.3(CAPN3):c.1355-7G>T	825	CAPN3	Likely benign	-1	RCV002824153;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693832	42693832	NC_000015.9:g.42693832G>T	-
NM_000070.3(CAPN3):c.1355-6G>A	825	CAPN3	Benign/Likely benign	28364485	RCV000116539\|RCV000274295\|RCV000357242;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693833	42693833	15:g.42693833G>A	ClinGen:CA152138	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.1355-6G>T	825	CAPN3	Conflicting interpretations of pathogenicity	28364485	RCV000674618;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693833	42693833	15:g.42693833G>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1355-6G>C	825	CAPN3	Likely benign	-1	RCV002592476;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693833	42693833	NC_000015.9:g.42693833G>C	-
NM_000070.3(CAPN3):c.1355A>G (p.Asp452Gly)	825	CAPN3	Uncertain significance	-1	RCV003070852\|RCV003146741;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42693839	42693839	NC_000015.9:g.42693839A>G	-
NM_000070.3(CAPN3):c.1377G>T (p.Gln459His)	825	CAPN3	Uncertain significance	1555422101	RCV000592709\|RCV000804894;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693861	42693861	NC_000015.9:g.42693861G>T	ClinGen:CA391999711	CN169374 not specified;
NM_000070.3(CAPN3):c.1377G>A (p.Gln459=)	825	CAPN3	Likely benign	1555422101	RCV001427358;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693861	42693861	42693861	-
NM_000070.3(CAPN3):c.1382G>A (p.Arg461His)	825	CAPN3	Uncertain significance	767398783	RCV000799403;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693866	42693866	15:g.42693866G>A	-
NM_000070.3(CAPN3):c.1383T>A (p.Arg461=)	825	CAPN3	Likely benign	-1	RCV002871113;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693867	42693867		-
NM_000070.3(CAPN3):c.1384C>T (p.Leu462=)	825	CAPN3	Likely benign	-1	RCV002578781;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693868	42693868		-
NM_000070.3(CAPN3):c.1392C>T (p.Leu464=)	825	CAPN3	Likely benign	752507483	RCV002185538;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693876	42693876	42693876	-
NM_000070.3(CAPN3):c.1393C>T (p.Leu465=)	825	CAPN3	Likely benign	2141199462	RCV001450790;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693877	42693877	42693877	-
NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)	825	CAPN3	Conflicting interpretations of pathogenicity	760344791	RCV001491110\|RCV001559255;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42693879	42693879	42693879	-
NM_000070.3(CAPN3):c.1401G>A (p.Glu467=)	825	CAPN3	Likely benign	1035533876	RCV002080512;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693885	42693885	42693885	-
NM_000070.3(CAPN3):c.1403A>G (p.Asp468Gly)	825	CAPN3	Uncertain significance	2141199495	RCV001970769;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693887	42693887	42693887	-
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=)	825	CAPN3	Likely benign	534326487	RCV000874872;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693888	42693888	15:g.42693888C>T	-
NM_000070.3(CAPN3):c.1404C>G (p.Asp468Glu)	825	CAPN3	Uncertain significance	534326487	RCV001936796;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693888	42693888	42693888	-
NM_000070.3(CAPN3):c.1405G>A (p.Asp469Asn)	825	CAPN3	Uncertain significance	1272589475	RCV000812476;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693889	42693889	15:g.42693889G>A	-
NM_000070.3(CAPN3):c.1410C>T (p.Asp470=)	825	CAPN3	Likely benign	371148431	RCV000645005;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693894	42693894	NC_000015.9:g.42693894C>T	ClinGen:CA7511354	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=)	825	CAPN3	Likely benign	367855757	RCV000704745\|RCV003411643;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42693906	42693906	15:g.42693906G>A	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1431T>C (p.Ile477=)	825	CAPN3	Likely benign	-1	RCV002876403;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693915	42693915		-
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)	825	CAPN3	Conflicting interpretations of pathogenicity	147914333	RCV000596913\|RCV001085399;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693921	42693921	15:g.42693921C>T	ClinGen:CA7511358	CN169374 not specified;
NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr)	825	CAPN3	Uncertain significance	1555422111	RCV000595569\|RCV001247084;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693923	42693923	15:g.42693923T>A	ClinGen:CA391999851	CN169374 not specified;
NM_000070.3(CAPN3):c.1440C>T (p.Phe480=)	825	CAPN3	Likely benign	-1	RCV002815261;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693924	42693924		-
NM_000070.3(CAPN3):c.1443G>C (p.Leu481=)	825	CAPN3	Likely benign	941012884	RCV001427005;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693927	42693927	15:g.42693927G>C	-
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met)	825	CAPN3	Uncertain significance	144220513	RCV000596393\|RCV000668334\|RCV000765207;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42693934	42693934	15:g.42693934C>A	ClinGen:CA7511361	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1452G>A (p.Leu484=)	825	CAPN3	Likely benign	2053876506	RCV001497712;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693936	42693936	42693936	-
NM_000070.3(CAPN3):c.1476C>T (p.Asp492=)	825	CAPN3	Likely benign	2141199788	RCV002185407;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693960	42693960	42693960	-
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)	825	CAPN3	Conflicting interpretations of pathogenicity	557164942	RCV000267747\|RCV000669446\|RCV002494858\|RCV003463765;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42693961	42693961	15:g.42693961C>G	ClinGen:CA10605479	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln)	825	CAPN3	Uncertain significance	143583537	RCV001243724\|RCV001580576\|RCV003145477;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MedGen:C3661900	15	42693962	42693962	15:g.42693962G>A	-
NM_000070.3(CAPN3):c.1482G>A (p.Lys494=)	825	CAPN3	Likely benign	1178672791	RCV001423406;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693966	42693966	42693966	-
NM_000070.3(CAPN3):c.1484T>C (p.Leu495Pro)	825	CAPN3	Uncertain significance	886043921	RCV000314565\|RCV001859679;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693968	42693968	15:g.42693968T>C	ClinGen:CA10606114	CN169374 not specified;
NM_000070.3(CAPN3):c.1485A>G (p.Leu495=)	825	CAPN3	Likely benign	-1	RCV003019071;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693969	42693969		-
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg)	825	CAPN3	Conflicting interpretations of pathogenicity	761637940	RCV001562120\|RCV002570733\|RCV003474008;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42693970	42693970	42693970	-
NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile)	825	CAPN3	Conflicting interpretations of pathogenicity	751104396	RCV001814382\|RCV001873811;	N	Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693986	42693986	42693986	-
NM_000070.3(CAPN3):c.1503C>T (p.Thr501=)	825	CAPN3	Likely benign	1462291517	RCV002076382;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693987	42693987	42693987	-
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val)	825	CAPN3	Uncertain significance	755433765	RCV000541575;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693988	42693988	15:g.42693988A>G	ClinGen:CA7511374	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)	825	CAPN3	Conflicting interpretations of pathogenicity	148044781	RCV000414202\|RCV000644997\|RCV002222470\|RCV003475895;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42693989	42693989	15:g.42693989T>C	ClinGen:CA7511375,UniProtKB:P20807#VAR_009587	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1508G>C (p.Gly503Ala)	825	CAPN3	Uncertain significance	-1	RCV002290406;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693992	42693992	42693992	-
NM_000070.3(CAPN3):c.1512C>T (p.Phe504=)	825	CAPN3	Likely benign	1002414882	RCV001398837;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693996	42693996	15:g.42693996C>T	-
NM_000070.3(CAPN3):c.1513G>A (p.Ala505Thr)	825	CAPN3	Uncertain significance	1555422133	RCV001992272;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693997	42693997	42693997	-
NM_000070.3(CAPN3):c.1514C>T (p.Ala505Val)	825	CAPN3	Uncertain significance	756657325	RCV001206321;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42693998	42693998	15:g.42693998C>T	-
NM_000070.3(CAPN3):c.1516A>G (p.Ile506Val)	825	CAPN3	Uncertain significance	140828326	RCV000380875\|RCV001197711\|RCV002519241;	N	MedGen:CN517202\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694000	42694000	15:g.42694000A>G	ClinGen:CA7511379	CN169374 not specified;
NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu)	825	CAPN3	Uncertain significance	140828326	RCV001288904\|RCV001321442;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694000	42694000	42694000	-
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)	825	CAPN3	Conflicting interpretations of pathogenicity	1555422136	RCV000597737\|RCV000727466\|RCV003471964;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42694001	42694001	15:g.42694001T>C	ClinGen:CA391999998	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1518C>A (p.Ile506=)	825	CAPN3	Likely benign	-1	RCV002775387;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694002	42694002		-
NM_000070.3(CAPN3):c.1520A>G (p.Tyr507Cys)	825	CAPN3	Uncertain significance	771068557	RCV001322574;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694004	42694004	42694004	-
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)	825	CAPN3	Conflicting interpretations of pathogenicity	370231427	RCV000591189\|RCV001085351;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694005	42694005	15:g.42694005C>T	ClinGen:CA7511381	CN169374 not specified;
NM_000070.3(CAPN3):c.1522G>A (p.Glu508Lys)	825	CAPN3	Uncertain significance	-1	RCV002770174;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694006	42694006	NC_000015.9:g.42694006G>A	-
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)	825	CAPN3	Conflicting interpretations of pathogenicity	886043432	RCV000313599\|RCV001249768\|RCV001196491;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42694008	42694008	15:g.42694008G>A	ClinGen:CA10605515	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1524+3G>A	825	CAPN3	Uncertain significance	374188055	RCV000323990\|RCV001197710\|RCV002519240\|RCV003155150;	N	MedGen:CN517202\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374	15	42694011	42694011	15:g.42694011G>A	ClinGen:CA7511383	CN169374 not specified;
NM_000070.3(CAPN3):c.1524+3del	825	CAPN3	Uncertain significance	1566980514	RCV000705793;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694011	42694011	15:g.42694011_42694011del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1524+7A>C	825	CAPN3	Likely benign	-1	RCV003087969;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694015	42694015	NC_000015.9:g.42694015A>C	-
NM_000070.3(CAPN3):c.1525-9C>T	825	CAPN3	Likely benign	1240331852	RCV002075868;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694313	42694313	42694313	-
NM_000070.3(CAPN3):c.1536+14A>G	825	CAPN3	Likely benign	1011574532	RCV002110398;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694347	42694347	42694347	-
NM_000070.3(CAPN3):c.1536+16C>T	825	CAPN3	Likely benign	563510311	RCV002107399;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694349	42694349	42694349	-
NM_000070.3(CAPN3):c.1536+17G>A	825	CAPN3	Likely benign	-1	RCV003011049;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694350	42694350	NC_000015.9:g.42694350G>A	-
NM_000070.3(CAPN3):c.1537-48T>C	825	CAPN3	Benign	2241827	RCV000078087\|RCV000837854\|RCV001526794\|RCV001526795;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694944	42694944	NC_000015.9:g.42694944T>C	ClinGen:CA145717	CN169374 not specified;
NM_000070.3(CAPN3):c.1537-40C>G	825	CAPN3	Uncertain significance	1172112518	RCV000671723;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694952	42694952	15:g.42694952C>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1537-33G>A	825	CAPN3	Likely benign	143412460	RCV000839325\|RCV001830853;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694959	42694959	15:g.42694959G>A	-
NM_000070.3(CAPN3):c.1537-18G>C	825	CAPN3	Likely benign	-1	RCV002755366;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694974	42694974	NC_000015.9:g.42694974G>C	-
NM_000070.3(CAPN3):c.1537-12C>T	825	CAPN3	Likely benign	749260802	RCV002104579;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694980	42694980	42694980	-
NM_000070.3(CAPN3):c.1537-10C>A	825	CAPN3	Likely benign	1595838469	RCV002089941;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694982	42694982	42694982	-
NM_000070.3(CAPN3):c.1537-9A>G	825	CAPN3	Likely benign	2053909488	RCV002191558;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694983	42694983	42694983	-
NM_000070.3(CAPN3):c.1537-8TC[2]	825	CAPN3	Likely benign	764635656	RCV001470039;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694984	42694985	42694983	-
NM_000070.3(CAPN3):c.1537-3C>G	825	CAPN3	Uncertain significance	187600280	RCV001339974;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694989	42694989	42694989	-
NM_000070.3(CAPN3):c.1542C>T (p.His514=)	825	CAPN3	Conflicting interpretations of pathogenicity	377215244	RCV000385306\|RCV001403267;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694997	42694997	15:g.42694997C>T	ClinGen:CA7511430	CN169374 not specified;
NM_000070.3(CAPN3):c.1542C>A (p.His514Gln)	825	CAPN3	Uncertain significance	377215244	RCV000811710;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42694997	42694997	15:g.42694997C>A	-
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)	825	CAPN3	Conflicting interpretations of pathogenicity	150226817	RCV000245397\|RCV000692602\|RCV000724737;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42694998	42694998	NC_000015.9:g.42694998G>A	ClinGen:CA7511431	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1545G>A (p.Gly515=)	825	CAPN3	Likely benign	-1	RCV002814799;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695000	42695000		-
NM_000070.3(CAPN3):c.1553A>G (p.Gln518Arg)	825	CAPN3	Uncertain significance	764593698	RCV001241846\|RCV001288905;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42695008	42695008	15:g.42695008A>G	-
NM_000070.3(CAPN3):c.1554G>A (p.Gln518=)	825	CAPN3	Likely benign	754289683	RCV001406227;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695009	42695009	42695009	-
NM_000070.3(CAPN3):c.1557C>T (p.His519=)	825	CAPN3	Conflicting interpretations of pathogenicity	368385372	RCV000192510\|RCV000325766\|RCV000296481\|RCV000726184;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352\|MedGen:CN517202	15	42695012	42695012	NC_000015.9:g.42695012C>T	ClinGen:CA205369	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.1562A>C (p.Gln521Pro)	825	CAPN3	Uncertain significance	-1	RCV002727213;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695017	42695017	NC_000015.9:g.42695017A>C	-
NM_000070.3(CAPN3):c.1566G>A (p.Lys522=)	825	CAPN3	Conflicting interpretations of pathogenicity	201116482	RCV000282116\|RCV002059125;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695021	42695021	15:g.42695021G>A	ClinGen:CA7511438	CN169374 not specified;
NM_000070.3(CAPN3):c.1569C>T (p.Asp523=)	825	CAPN3	Likely benign	2141202805	RCV001407503;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695024	42695024	42695024	-
NM_000070.3(CAPN3):c.1576C>T (p.Leu526=)	825	CAPN3	Likely benign	2141202826	RCV002076954;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695031	42695031	42695031	-
NM_000070.3(CAPN3):c.1581C>T (p.Tyr527=)	825	CAPN3	Likely benign	766467164	RCV001397069;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695036	42695036	42695036	-
NM_000070.3(CAPN3):c.1582A>G (p.Asn528Asp)	825	CAPN3	Uncertain significance	-1	RCV002588477;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695037	42695037	NC_000015.9:g.42695037A>G	-
NM_000070.3(CAPN3):c.1584C>T (p.Asn528=)	825	CAPN3	Conflicting interpretations of pathogenicity	530529988	RCV000301661\|RCV001078683;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695039	42695039	15:g.42695039C>T	ClinGen:CA7511440	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1584C>A (p.Asn528Lys)	825	CAPN3	Uncertain significance	530529988	RCV001304636;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695039	42695039	42695039	-
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr)	825	CAPN3	Uncertain significance	138857720	RCV000290611\|RCV000382448\|RCV000487887\|RCV002494845\|RCV002265726;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374	15	42695040	42695040	15:g.42695040G>A	ClinGen:CA7511443	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.1587C>T (p.Ala529=)	825	CAPN3	Likely benign	2141202906	RCV001466899;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695042	42695042	42695042	-
NM_000070.3(CAPN3):c.1599G>A (p.Arg533=)	825	CAPN3	Likely benign	745805303	RCV001479877;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695054	42695054	42695054	-
NM_000070.3(CAPN3):c.1602C>T (p.Ser534=)	825	CAPN3	Likely benign	2141202971	RCV001495344;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695057	42695057	42695057	-
NM_000070.3(CAPN3):c.1608C>T (p.Thr536=)	825	CAPN3	Likely benign	1483406857	RCV002095791;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695063	42695063	42695063	-
NM_000070.3(CAPN3):c.1611C>T (p.Tyr537=)	825	CAPN3	Likely benign	-1	RCV003061473;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695066	42695066		-
NM_000070.3(CAPN3):c.1614C>T (p.Ile538=)	825	CAPN3	Likely benign	2141202992	RCV002139449;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695069	42695069	42695069	-
NM_000070.3(CAPN3):c.1615_1616insTGCGGTTTGCTCCTGGCCTTGCAAAGGCCT (p.Asn539delinsMetArgPheAlaProGlyLeu	825	CAPN3	Uncertain significance	2053912617	RCV001300084;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695070	42695071	42695070	-
NM_000070.3(CAPN3):c.1619T>C (p.Met540Thr)	825	CAPN3	Uncertain significance	-1	RCV003079142;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695074	42695074	NC_000015.9:g.42695074T>C	-
NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly)	825	CAPN3	Uncertain significance	142004418	RCV000294421\|RCV000817085\|RCV001535803;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239245	15	42695076	42695076	NC_000015.9:g.42695076C>G	ClinGen:CA10604265	CN169374 not specified;
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	825	CAPN3	Conflicting interpretations of pathogenicity	142004418	RCV000595213\|RCV000726807\|RCV000762951\|RCV002298702\|RCV003222054;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|M	15	42695076	42695076	15:g.42695076C>T	ClinGen:CA7511448	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1628T>G (p.Val543Gly)	825	CAPN3	Uncertain significance	-1	RCV002922656;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695083	42695083	NC_000015.9:g.42695083T>G	-
NM_000070.3(CAPN3):c.1631C>T (p.Ser544Phe)	825	CAPN3	Uncertain significance	-1	RCV003041769\|RCV003146735;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42695086	42695086	NC_000015.9:g.42695086C>T	-
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)	825	CAPN3	Conflicting interpretations of pathogenicity	372438001	RCV000591859\|RCV000725457\|RCV001814146;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745	15	42695091	42695091	15:g.42695091C>T	ClinGen:CA7511450	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His)	825	CAPN3	Uncertain significance	762091599	RCV000279969\|RCV000347867\|RCV000389952\|RCV002502121;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42695092	42695092	15:g.42695092G>A	ClinGen:CA7511451	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.1642C>T (p.Arg548Cys)	825	CAPN3	Uncertain significance	-1	RCV002716425;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695097	42695097	NC_000015.9:g.42695097C>T	-
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)	825	CAPN3	Conflicting interpretations of pathogenicity	146309264	RCV000333524\|RCV001081033;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695098	42695098	15:g.42695098G>A	ClinGen:CA7511454	CN169374 not specified;
NM_000070.3(CAPN3):c.1647G>A (p.Leu549=)	825	CAPN3	Likely benign	2053913746	RCV002193757;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695102	42695102	42695102	-
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)	825	CAPN3	Conflicting interpretations of pathogenicity	766405190	RCV000730715\|RCV001278229;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695105	42695105	NC_000015.9:g.42695105T>C	-
NM_000070.3(CAPN3):c.1656C>T (p.Ser552=)	825	CAPN3	Uncertain significance	751666282	RCV000345342\|RCV003105852;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695111	42695111	15:g.42695111C>T	ClinGen:CA7511456	CN169374 not specified;
NM_000070.3(CAPN3):c.1656C>A (p.Ser552Arg)	825	CAPN3	Uncertain significance	-1	RCV002653286;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695111	42695111	NC_000015.9:g.42695111C>A	-
NM_000070.3(CAPN3):c.1659G>C (p.Glu553Asp)	825	CAPN3	Uncertain significance	-1	RCV002290407;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695114	42695114	42695114	-
NM_000070.3(CAPN3):c.1662C>T (p.Tyr554=)	825	CAPN3	Likely benign	752848213	RCV000878717;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695117	42695117	15:g.42695117C>T	-
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)	825	CAPN3	Conflicting interpretations of pathogenicity	138172448	RCV000546918\|RCV000734564\|RCV002483453;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42695118	42695118	NC_000015.9:g.42695118G>A	ClinGen:CA7511461	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1663G>C (p.Val555Leu)	825	CAPN3	Uncertain significance	138172448	RCV000692992;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695118	42695118	15:g.42695118G>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)	825	CAPN3	Conflicting interpretations of pathogenicity	199884116	RCV000250156\|RCV000725636\|RCV001080761;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695123	42695123	15:g.42695123C>T	ClinGen:CA7511463	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1673C>T (p.Pro558Leu)	825	CAPN3	Uncertain significance	546820887	RCV000335232\|RCV001859642;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695128	42695128	15:g.42695128C>T	ClinGen:CA10605389	CN169374 not specified;
NM_000070.3(CAPN3):c.1674C>G (p.Pro558=)	825	CAPN3	Likely benign	1205096877	RCV000983451;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695129	42695129	15:g.42695129C>G	-
NM_000070.3(CAPN3):c.1674C>T (p.Pro558=)	825	CAPN3	Likely benign	1205096877	RCV001408732;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695129	42695129	42695129	-
NM_000070.3(CAPN3):c.1678A>G (p.Thr560Ala)	825	CAPN3	Uncertain significance	146845466	RCV000279141\|RCV001859563\|RCV003230470;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374	15	42695133	42695133	15:g.42695133A>G	ClinGen:CA7511464	CN169374 not specified;
NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)	825	CAPN3	Uncertain significance	-1	RCV003112307;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695136	42695136	NC_000015.9:g.42695136T>C	-
NM_000070.3(CAPN3):c.1683C>T (p.Tyr561=)	825	CAPN3	Likely benign	1046912251	RCV001415277;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695138	42695138	15:g.42695138C>T	-
NM_000070.3(CAPN3):c.1684G>A (p.Glu562Lys)	825	CAPN3	Uncertain significance	-1	RCV002640570\|RCV003340646;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MeSH:D030342,MedGen:C0950123	15	42695139	42695139	NC_000015.9:g.42695139G>A	-
NM_000070.3(CAPN3):c.1686G>A (p.Glu562=)	825	CAPN3	Conflicting interpretations of pathogenicity	569866483	RCV000361396\|RCV001426524;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695141	42695141	15:g.42695141G>A	ClinGen:CA7511465	CN169374 not specified;
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)	825	CAPN3	Conflicting interpretations of pathogenicity	747819910	RCV001228061\|RCV002265011\|RCV003473793;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42695151	42695151	15:g.42695151G>A	-
NM_000070.3(CAPN3):c.1701G>A (p.Gly567=)	825	CAPN3	Likely benign	1595838740	RCV000840199\|RCV001439279;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695156	42695156	15:g.42695156G>A	-
NM_000070.3(CAPN3):c.1701G>C (p.Gly567=)	825	CAPN3	Likely benign	1595838740	RCV002142116;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695156	42695156	42695156	-
NM_000070.3(CAPN3):c.1704A>G (p.Glu568=)	825	CAPN3	Likely benign	143066571	RCV001417614;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695159	42695159	42695159	-
NM_000070.3(CAPN3):c.1713C>T (p.Leu571=)	825	CAPN3	Likely benign	2141203372	RCV002155519;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695168	42695168	42695168	-
NM_000070.3(CAPN3):c.1733G>A (p.Arg578Lys)	825	CAPN3	Uncertain significance	-1	RCV002838575;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695188	42695188	NC_000015.9:g.42695188G>A	-
NM_000070.3(CAPN3):c.1740C>G (p.Leu580=)	825	CAPN3	Likely benign	1296069874	RCV000983541;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695195	42695195	15:g.42695195C>G	-
NM_000070.3(CAPN3):c.1745+4_1745+7del	825	CAPN3	Conflicting interpretations of pathogenicity	794727082	RCV000174441\|RCV001058111;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695198	42695201	15:g.42695198_42695201del	ClinGen:CA239990	CN169374 not specified;
NM_000070.3(CAPN3):c.1745+3G>C	825	CAPN3	Uncertain significance	-1	RCV002975981;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695203	42695203	NC_000015.9:g.42695203G>C	-
NM_000070.3(CAPN3):c.1745+7G>A	825	CAPN3	Likely benign	1219926521	RCV002186839;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695207	42695207	42695207	-
NM_000070.3(CAPN3):c.1745+8C>G	825	CAPN3	Likely benign	1278180136	RCV001406678;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695208	42695208	42695208	-
NM_000070.3(CAPN3):c.1745+10G>A	825	CAPN3	Likely benign	1302217409	RCV001442627;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695210	42695210	42695210	-
NM_000070.3(CAPN3):c.1746-64C>T	825	CAPN3	Benign/Likely benign	17764849	RCV000839820\|RCV001526796\|RCV001526797;	N	MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695875	42695875	15:g.42695875C>T	-
NM_000070.3(CAPN3):c.1746-20C>G	825	CAPN3	Conflicting interpretations of pathogenicity	201892814	RCV000078089\|RCV000559180\|RCV000585323\|RCV000626578\|RCV003225929;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|8 conditions\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015	15	42695919	42695919	15:g.42695919C>G	ClinGen:CA220343	C4022625 Absent muscle fiber calpain-3;
NM_000070.3(CAPN3):c.1746-17G>A	825	CAPN3	Likely benign	-1	RCV002618200;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695922	42695922	NC_000015.9:g.42695922G>A	-
NM_000070.3(CAPN3):c.1746-7C>G	825	CAPN3	Conflicting interpretations of pathogenicity	199978708	RCV000382613\|RCV001084708;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695932	42695932	15:g.42695932C>G	ClinGen:CA7511492	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1746-6T>C	825	CAPN3	Likely benign	1043267573	RCV001402440;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695933	42695933	42695933	-
NM_000070.3(CAPN3):c.1746-5C>T	825	CAPN3	Likely benign	2141205216	RCV001416402;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695934	42695934	42695934	-
NM_000070.3(CAPN3):c.1746-4A>G	825	CAPN3	Likely benign	772180738	RCV001433184;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695935	42695935	42695935	-
NM_000070.3(CAPN3):c.1761C>T (p.Thr587=)	825	CAPN3	Likely benign	-1	RCV002909775;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695954	42695954		-
NM_000070.3(CAPN3):c.1767C>T (p.Ser589=)	825	CAPN3	Likely benign	376429947	RCV001450712;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695960	42695960	42695960	-
NM_000070.3(CAPN3):c.1768G>A (p.Val590Met)	825	CAPN3	Uncertain significance	370809015	RCV000285474\|RCV000342828;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695961	42695961	NC_000015.9:g.42695961G>A	ClinGen:CA7511496	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.1768G>T (p.Val590Leu)	825	CAPN3	Uncertain significance	370809015	RCV000644978;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695961	42695961	15:g.42695961G>T	ClinGen:CA392000574	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1774C>T (p.Arg592Trp)	825	CAPN3	Uncertain significance	373512834	RCV000594130\|RCV001048553;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695967	42695967	15:g.42695967C>T	ClinGen:CA7511499	CN169374 not specified;
NM_000070.3(CAPN3):c.1775G>A (p.Arg592Gln)	825	CAPN3	Uncertain significance	-1	RCV002952381;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695968	42695968	NC_000015.9:g.42695968G>A	-
NM_000070.3(CAPN3):c.1776G>A (p.Arg592=)	825	CAPN3	Likely benign	751592337	RCV001395090;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42695969	42695969	42695969	-
NM_000070.3(CAPN3):c.1783-19G>A	825	CAPN3	Likely benign	-1	RCV002795021;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698105	42698105	NC_000015.9:g.42698105G>A	-
NM_000070.3(CAPN3):c.1783-17T>G	825	CAPN3	Likely benign	1296074937	RCV002210584;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698107	42698107	42698107	-
NM_000070.3(CAPN3):c.1783-11T>G	825	CAPN3	Likely benign	2141210321	RCV002093028;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698113	42698113	42698113	-
NM_000070.3(CAPN3):c.1783-9C>A	825	CAPN3	Likely benign	1555422573	RCV001442045;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698115	42698115	42698115	-
NM_000070.3(CAPN3):c.1783-5T>C	825	CAPN3	Conflicting interpretations of pathogenicity	780680647	RCV000592730\|RCV001399272;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698119	42698119	15:g.42698119T>C	ClinGen:CA7511533	CN169374 not specified;
NM_000070.3(CAPN3):c.1783-4G>A	825	CAPN3	Likely benign	-1	RCV002999622;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698120	42698120	NC_000015.9:g.42698120G>A	-
NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg)	825	CAPN3	Uncertain significance	747461807	RCV000806589\|RCV002478868\|RCV002534831;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MeSH:D030342,MedGen:C0950123	15	42698128	42698128	15:g.42698128A>G	-
NM_000070.3(CAPN3):c.1788G>T (p.Lys596Asn)	825	CAPN3	Uncertain significance	-1	RCV003063374\|RCV003171072;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MeSH:D030342,MedGen:C0950123	15	42698129	42698129	NC_000015.9:g.42698129G>T	-
NM_000070.3(CAPN3):c.1793_1795del (p.Lys598del)	825	CAPN3	Uncertain significance	80338803	RCV000665341;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698130	42698132	15:g.42698130_42698132del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1796C>A (p.Thr599Asn)	825	CAPN3	Uncertain significance	768832864	RCV001917949;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698137	42698137	42698137	-
NM_000070.3(CAPN3):c.1797C>G (p.Thr599=)	825	CAPN3	Likely benign	1321136751	RCV002083144;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698138	42698138	42698138	-
NM_000070.3(CAPN3):c.1800G>A (p.Lys600=)	825	CAPN3	Uncertain significance	-1	RCV003078380\|RCV003143481;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42698141	42698141		-
NM_000070.3(CAPN3):c.1800+4G>A	825	CAPN3	Uncertain significance	2054007004	RCV001278230;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698145	42698145	15:g.42698145G>A	-
NM_000070.3(CAPN3):c.1800+5G>A	825	CAPN3	Uncertain significance	373194123	RCV000813525;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698146	42698146	15:g.42698146G>A	-
NM_000070.3(CAPN3):c.1800+5GT[2]	825	CAPN3	Likely benign	-1	RCV003054825;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698146	42698147	NC_000015.9:g.42698147TG[2]	-
NM_000070.3(CAPN3):c.1800+6T>G	825	CAPN3	Uncertain significance	866147687	RCV001310000;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698147	42698147	42698147	-
NM_000070.3(CAPN3):c.1800+7G>A	825	CAPN3	Likely benign	770160730	RCV001395209;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698148	42698148	42698148	-
NM_000070.3(CAPN3):c.1800+9G>A	825	CAPN3	Likely benign	917718272	RCV002181274;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698150	42698150	42698150	-
NM_000070.3(CAPN3):c.1800+12G>A	825	CAPN3	Conflicting interpretations of pathogenicity	542523863	RCV000609014\|RCV001116288;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42698153	42698153	15:g.42698153G>A	ClinGen:CA7511541	CN169374 not specified;
NM_000070.3(CAPN3):c.1801-17C>T	825	CAPN3	Likely benign	1312106341	RCV002215997;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700392	42700392	42700392	-
NM_000070.3(CAPN3):c.1801-16_1801-12dup	825	CAPN3	Likely benign	-1	RCV003061474;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700392	42700393	NC_000015.9:g.42700393_42700397dup	-
NM_000070.3(CAPN3):c.1801-15C>T	825	CAPN3	Likely benign	1266596067	RCV002197913;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700394	42700394	42700394	-
NM_000070.3(CAPN3):c.1801-9_1801-3del	825	CAPN3	Likely benign	2141216361	RCV002087325;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700396	42700402	42700395	-
NM_000070.3(CAPN3):c.1801-10C>G	825	CAPN3	Likely benign	200931166	RCV001479715;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700399	42700399	42700399	-
NM_000070.3(CAPN3):c.1801-8C>G	825	CAPN3	Likely benign	2141216384	RCV002135813;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700401	42700401	42700401	-
NM_000070.3(CAPN3):c.1801-8C>T	825	CAPN3	Likely benign	-1	RCV002848262;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700401	42700401	NC_000015.9:g.42700401C>T	-
NM_000070.3(CAPN3):c.1801-7T>C	825	CAPN3	Likely benign	2141216390	RCV002166770;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700402	42700402	42700402	-
NM_000070.3(CAPN3):c.1801-5T>C	825	CAPN3	Likely benign	2054082419	RCV002092046;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700404	42700404	42700404	-
NM_000070.3(CAPN3):c.1802C>T (p.Pro601Leu)	825	CAPN3	Uncertain significance	199739866	RCV001943882;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700410	42700410	42700410	-
NM_000070.3(CAPN3):c.1803C>T (p.Pro601=)	825	CAPN3	Likely benign	-1	RCV002862123;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700411	42700411		-
NM_000070.3(CAPN3):c.1807A>G (p.Ile603Val)	825	CAPN3	Uncertain significance	-1	RCV002886434\|RCV003146657;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42700415	42700415	NC_000015.9:g.42700415A>G	-
NM_000070.3(CAPN3):c.1810_1812del (p.Phe604del)	825	CAPN3	Uncertain significance	2054083117	RCV001339042;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700416	42700418	42700415	-
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=)	825	CAPN3	Likely benign	144383704	RCV000919510;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700420	42700420	15:g.42700420C>T	-
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile)	825	CAPN3	Uncertain significance	200759807	RCV001069937\|RCV003145339;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42700421	42700421	15:g.42700421G>A	-
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=)	825	CAPN3	Conflicting interpretations of pathogenicity	28364528	RCV000547411\|RCV000596379;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42700426	42700426	NC_000015.9:g.42700426G>A	ClinGen:CA7511568	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1823G>A (p.Arg608Lys)	825	CAPN3	Conflicting interpretations of pathogenicity	-1	RCV003064250\|RCV003475496;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42700431	42700431	NC_000015.9:g.42700431G>A	-
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)	825	CAPN3	Conflicting interpretations of pathogenicity	202019404	RCV000116540\|RCV000355668\|RCV000298364\|RCV000418961;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352\|MedGen:CN169374	15	42700438	42700438	15:g.42700438C>T	ClinGen:CA230931	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.1833CAA[1] (p.Asn612del)	825	CAPN3	Uncertain significance	1555422829	RCV000673836;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700441	42700443	15:g.42700441_42700443del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1834A>C (p.Asn612His)	825	CAPN3	Uncertain significance	-1	RCV003063530\|RCV003250731\|RCV003226566;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	15	42700442	42700442	NC_000015.9:g.42700442A>C	-
NM_000070.3(CAPN3):c.1839G>A (p.Lys613=)	825	CAPN3	Likely benign	2141216539	RCV001408058;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700447	42700447	42700447	-
NM_000070.3(CAPN3):c.1841A>G (p.Glu614Gly)	825	CAPN3	Uncertain significance	111525622	RCV000319023\|RCV001855145;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700449	42700449	15:g.42700449A>G	ClinGen:CA7511572	CN169374 not specified;
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)	825	CAPN3	Conflicting interpretations of pathogenicity	201607149	RCV000311434\|RCV000339965\|RCV000408139;	N	MedGen:CN239352\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700450	42700450	15:g.42700450G>C	ClinGen:CA7511573	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.1851G>T (p.Val617=)	825	CAPN3	Likely benign	-1	RCV002877598;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700459	42700459		-
NM_000070.3(CAPN3):c.1869G>C (p.Glu623Asp)	825	CAPN3	Uncertain significance	1391429681	RCV000592111\|RCV002532441;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700477	42700477	15:g.42700477G>C	ClinGen:CA392000805	CN169374 not specified;
NM_000070.3(CAPN3):c.1869G>A (p.Glu623=)	825	CAPN3	Conflicting interpretations of pathogenicity	1391429681	RCV000598317\|RCV001464467;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700477	42700477	15:g.42700477G>A	ClinGen:CA489885486	CN169374 not specified;
NM_000070.3(CAPN3):c.1884A>C (p.Thr628=)	825	CAPN3	Likely benign	1595844400	RCV001468467;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700492	42700492	15:g.42700492A>C	-
NM_000070.3(CAPN3):c.1886G>A (p.Ser629Asn)	825	CAPN3	Uncertain significance	1352460433	RCV001236618;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700494	42700494	15:g.42700494G>A	-
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=)	825	CAPN3	Likely benign	746786954	RCV001275585;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700504	42700504	15:g.42700504G>A	-
NM_000070.3(CAPN3):c.1902G>A (p.Lys634=)	825	CAPN3	Uncertain significance	2054086848	RCV001116289;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700510	42700510	15:g.42700510G>A	-
NM_000070.3(CAPN3):c.1904A>G (p.Gln635Arg)	825	CAPN3	Uncertain significance	-1	RCV002594689;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700512	42700512	NC_000015.9:g.42700512A>G	-
NM_000070.3(CAPN3):c.1908C>A (p.Ser636=)	825	CAPN3	Likely benign	-1	RCV002570250;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700516	42700516		-
NM_000070.3(CAPN3):c.1914G>A (p.Gln638=)	825	CAPN3	Uncertain significance	-1	RCV003448786;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700522	42700522		-
NM_000070.3(CAPN3):c.1914+7G>A	825	CAPN3	Likely benign	2054087736	RCV001424448;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700529	42700529	42700529	-
NM_000070.3(CAPN3):c.1914+10C>T	825	CAPN3	Uncertain significance	886042479	RCV000271499\|RCV000820359;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700532	42700532	NC_000015.9:g.42700532C>T	ClinGen:CA10604294	CN169374 not specified;
NM_000070.3(CAPN3):c.1914+11A>T	825	CAPN3	Likely benign	-1	RCV003067084;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700533	42700533	NC_000015.9:g.42700533A>T	-
NM_000070.3(CAPN3):c.1914+13G>C	825	CAPN3	Likely benign	769337232	RCV000242338\|RCV000664554;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42700535	42700535	NC_000015.9:g.42700535G>C	ClinGen:CA7511587	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1915-12G>A	825	CAPN3	Benign	-1	RCV003058283;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701489	42701489	NC_000015.9:g.42701489G>A	-
NM_000070.3(CAPN3):c.1915-6C>T	825	CAPN3	Likely benign	2141219673	RCV001434653;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701495	42701495	42701495	-
NM_000070.3(CAPN3):c.1915-3C>T	825	CAPN3	Uncertain significance	-1	RCV002755997;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701498	42701498	NC_000015.9:g.42701498C>T	-
NM_000070.3(CAPN3):c.1915C>A (p.Pro639Thr)	825	CAPN3	Uncertain significance	758654496	RCV001978930;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701501	42701501	42701501	-
NM_000070.3(CAPN3):c.1922C>T (p.Pro641Leu)	825	CAPN3	Uncertain significance	2054128388	RCV001062393;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701508	42701508	15:g.42701508C>T	-
NM_000070.3(CAPN3):c.1929C>T (p.Ser643=)	825	CAPN3	Likely benign	11557722	RCV002081514;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701515	42701515	42701515	-
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=)	825	CAPN3	Conflicting interpretations of pathogenicity	79440238	RCV000732909\|RCV001080460;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701533	42701533	NC_000015.9:g.42701533G>A	-
NM_000070.3(CAPN3):c.1951C>A (p.Gln651Lys)	825	CAPN3	Uncertain significance	1314405681	RCV000809901;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701537	42701537	15:g.42701537C>A	-
NM_000070.3(CAPN3):c.1953G>A (p.Gln651=)	825	CAPN3	Likely benign	-1	RCV002953103;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701539	42701539		-
NM_000070.3(CAPN3):c.1963C>T (p.Arg655Trp)	825	CAPN3	Uncertain significance	-1	RCV002602343;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701549	42701549	NC_000015.9:g.42701549C>T	-
NM_000070.3(CAPN3):c.1964G>A (p.Arg655Gln)	825	CAPN3	Uncertain significance	1049698745	RCV000807956;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701550	42701550	15:g.42701550G>A	-
NM_000070.3(CAPN3):c.1968C>T (p.Asn656=)	825	CAPN3	Likely benign	-1	RCV002722086;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701554	42701554		-
NM_000070.3(CAPN3):c.1979A>G (p.Gln660Arg)	825	CAPN3	Uncertain significance	1555422962	RCV000674363;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701565	42701565	15:g.42701565A>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1982T>A (p.Ile661Lys)	825	CAPN3	Uncertain significance	2141219945	RCV002016652;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701568	42701568	42701568	-
NM_000070.3(CAPN3):c.1982T>C (p.Ile661Thr)	825	CAPN3	Uncertain significance	-1	RCV002903145;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701568	42701568	NC_000015.9:g.42701568T>C	-
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser)	825	CAPN3	Uncertain significance	187054121	RCV000536114\|RCV000596889\|RCV002491062;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42701570	42701570	NC_000015.9:g.42701570G>T	ClinGen:CA7511628	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1984G>C (p.Ala662Pro)	825	CAPN3	Uncertain significance	187054121	RCV001953067;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701570	42701570	42701570	-
NM_000070.3(CAPN3):c.1988_1990del (p.Gly663del)	825	CAPN3	Uncertain significance	770529441	RCV000668729\|RCV002507164;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42701572	42701574	15:g.42701572_42701574del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.1992+3G>A	825	CAPN3	Uncertain significance	761188919	RCV001278231;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701581	42701581	15:g.42701581G>A	-
NM_000070.3(CAPN3):c.1992+8C>T	825	CAPN3	Likely benign	2141220032	RCV001474791;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701586	42701586	42701586	-
NM_000070.3(CAPN3):c.1992+9C>T	825	CAPN3	Likely benign	2141220039	RCV001479296;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701587	42701587	42701587	-
NM_000070.3(CAPN3):c.1992+14A>G	825	CAPN3	Likely benign	777056130	RCV002112884;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701592	42701592	42701592	-
NM_000070.3(CAPN3):c.1992+110T>C	825	CAPN3	Benign	3115883	RCV000837857\|RCV001554571\|RCV001554572;	N	MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701688	42701688	15:g.42701688T>C	-
NM_000070.3(CAPN3):c.1993-17T>C	825	CAPN3	Likely benign	-1	RCV002637187;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701968	42701968	NC_000015.9:g.42701968T>C	-
NM_000070.3(CAPN3):c.1993-10T>G	825	CAPN3	Likely benign	2141221233	RCV001494425;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701975	42701975	42701975	-
NM_000070.3(CAPN3):c.1993-9C>T	825	CAPN3	Likely benign	2141221248	RCV002212297;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701976	42701976	42701976	-
NM_000070.3(CAPN3):c.1993-8C>G	825	CAPN3	Likely benign	-1	RCV002811074;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701977	42701977	NC_000015.9:g.42701977C>G	-
NM_000070.3(CAPN3):c.1993-5C>T	825	CAPN3	Conflicting interpretations of pathogenicity	1566984719	RCV000728471\|RCV001488963;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701980	42701980	NC_000015.9:g.42701980C>T	-
NM_000070.3(CAPN3):c.1997T>C (p.Met666Thr)	825	CAPN3	Uncertain significance	-1	RCV003065508;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42701989	42701989	NC_000015.9:g.42701989T>C	-
NM_000070.3(CAPN3):c.2013T>C (p.Asp671=)	825	CAPN3	Likely benign	2141221338	RCV002083236;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702005	42702005	42702005	-
NM_000070.3(CAPN3):c.2019C>G (p.Leu673=)	825	CAPN3	Likely benign	879491385	RCV000982255;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702011	42702011	15:g.42702011C>G	-
NM_000070.3(CAPN3):c.2019C>T (p.Leu673=)	825	CAPN3	Likely benign	879491385	RCV001449331;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702011	42702011	42702011	-
NM_000070.3(CAPN3):c.2031T>A (p.Leu677=)	825	CAPN3	Likely benign	931512687	RCV001403687;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702023	42702023	42702023	-
NM_000070.3(CAPN3):c.2031T>C (p.Leu677=)	825	CAPN3	Likely benign	931512687	RCV001430252;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702023	42702023	42702023	-
NM_000070.3(CAPN3):c.2032A>G (p.Asn678Asp)	825	CAPN3	Uncertain significance	2054149654	RCV001923328;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702024	42702024	42702024	-
NM_000070.3(CAPN3):c.2037A>T (p.Thr679=)	825	CAPN3	Likely benign	747774620	RCV001443513;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702029	42702029	42702029	-
NM_000070.3(CAPN3):c.2040C>T (p.Val680=)	825	CAPN3	Conflicting interpretations of pathogenicity	200583904	RCV000591037\|RCV001079051;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702032	42702032	15:g.42702032C>T	ClinGen:CA7511664	CN169374 not specified;
NM_000070.3(CAPN3):c.2040C>A (p.Val680=)	825	CAPN3	Likely benign	200583904	RCV001445887;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702032	42702032	42702032	-
NM_000070.3(CAPN3):c.2041G>A (p.Val681Met)	825	CAPN3	Uncertain significance	553169803	RCV000644984\|RCV000730359;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42702033	42702033	15:g.42702033G>A	ClinGen:CA7511666	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2042T>C (p.Val681Ala)	825	CAPN3	Uncertain significance	750373128	RCV001906304\|RCV003146329;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42702034	42702034	42702034	-
NM_000070.3(CAPN3):c.2046C>T (p.Asn682=)	825	CAPN3	Likely benign	-1	RCV002589901;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702038	42702038		-
NM_000070.3(CAPN3):c.2050C>T (p.His684Tyr)	825	CAPN3	Uncertain significance	201566716	RCV000343142\|RCV000820657;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702042	42702042	NC_000015.9:g.42702042C>T	ClinGen:CA7511670	CN169374 not specified;
NM_000070.3(CAPN3):c.2050+9C>T	825	CAPN3	Likely benign	2054150768	RCV001472452;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702051	42702051	42702051	-
NM_000070.3(CAPN3):c.2051-8C>T	825	CAPN3	Conflicting interpretations of pathogenicity	754375124	RCV001117728;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702121	42702121	15:g.42702121C>T	-
NM_000070.3(CAPN3):c.2051-3del	825	CAPN3	Benign	781378527	RCV002212861;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702121	42702121	42702120	-
NM_000070.3(CAPN3):c.2051-3C>A	825	CAPN3	Conflicting interpretations of pathogenicity	201294691	RCV000591823\|RCV001521187;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702126	42702126	15:g.42702126C>A	ClinGen:CA269852680	CN169374 not specified;
NM_000070.3(CAPN3):c.2055G>A (p.Lys685=)	825	CAPN3	Likely benign	778082413	RCV001396394;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702133	42702133	42702133	-
NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu)	825	CAPN3	Uncertain significance	749614603	RCV001117729\|RCV003145350;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42702136	42702136	15:g.42702136C>G	-
NM_000070.3(CAPN3):c.2066C>T (p.Thr689Ile)	825	CAPN3	Uncertain significance	1278777392	RCV002048667;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702144	42702144	42702144	-
NM_000070.3(CAPN3):c.2068C>G (p.His690Asp)	825	CAPN3	Uncertain significance	2141222124	RCV001923564;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702146	42702146	42702146	-
NM_000070.3(CAPN3):c.2070C>T (p.His690=)	825	CAPN3	Likely benign	560701241	RCV000951931;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702148	42702148	15:g.42702148C>T	-
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)	825	CAPN3	Conflicting interpretations of pathogenicity	140425651	RCV000375518\|RCV000644989\|RCV003144189;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42702149	42702149	15:g.42702149G>A	ClinGen:CA7511704	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2071G>C (p.Gly691Arg)	825	CAPN3	Uncertain significance	140425651	RCV001278232;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702149	42702149	15:g.42702149G>C	-
NM_000070.3(CAPN3):c.2073G>A (p.Gly691=)	825	CAPN3	Likely benign	-1	RCV002671221;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702151	42702151		-
NM_000070.3(CAPN3):c.2079A>G (p.Thr693=)	825	CAPN3	Likely benign	540561728	RCV000241873\|RCV000665576\|RCV001705326;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42702157	42702157	NC_000015.9:g.42702157A>G	ClinGen:CA7511706	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2080C>G (p.Leu694Val)	825	CAPN3	Uncertain significance	2054156832	RCV001349440\|RCV003318684;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42702158	42702158	42702158	-
NM_000070.3(CAPN3):c.2080C>T (p.Leu694=)	825	CAPN3	Likely benign	2054156832	RCV002121372;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702158	42702158	42702158	-
NM_000070.3(CAPN3):c.2081T>G (p.Leu694Arg)	825	CAPN3	Uncertain significance	1355979542	RCV001217757;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702159	42702159	15:g.42702159T>G	-
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)	825	CAPN3	Conflicting interpretations of pathogenicity	867628179	RCV000276252\|RCV000368483;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352	15	42702166	42702166	NC_000015.9:g.42702166C>T	ClinGen:CA10646935	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.2088C>A (p.Ser696=)	825	CAPN3	Likely benign	867628179	RCV000549323;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702166	42702166	NC_000015.9:g.42702166C>A	ClinGen:CA489885789	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2090G>C (p.Cys697Ser)	825	CAPN3	Uncertain significance	-1	RCV003072340;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702168	42702168	NC_000015.9:g.42702168G>C	-
NM_000070.3(CAPN3):c.2091C>T (p.Cys697=)	825	CAPN3	Likely benign	760776617	RCV001427719;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702169	42702169	42702169	-
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)	825	CAPN3	Conflicting interpretations of pathogenicity	764370512	RCV000327815\|RCV000675154\|RCV003463760;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702170	42702170	15:g.42702170C>T	ClinGen:CA7511709	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)	825	CAPN3	Uncertain significance	190793093	RCV000597401\|RCV000644983\|RCV002476300\|RCV003387895\|RCV003459469;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN169374\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702171	42702171	15:g.42702171G>A	ClinGen:CA7511710	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2096G>A (p.Ser699Asn)	825	CAPN3	Uncertain significance	-1	RCV003031152;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702174	42702174	NC_000015.9:g.42702174G>A	-
NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr)	825	CAPN3	Uncertain significance	762776236	RCV000175388\|RCV001117730;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702177	42702177	15:g.42702177T>C	ClinGen:CA241128	CN169374 not specified;
NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr)	825	CAPN3	Uncertain significance	1008776680	RCV001057234\|RCV002497430;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129; MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702180	42702180	15:g.42702180T>C	-
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=)	825	CAPN3	Likely benign	144260889	RCV000877009;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702184	42702184	15:g.42702184G>A	-
NM_000070.3(CAPN3):c.2107C>T (p.Leu703Phe)	825	CAPN3	Uncertain significance	751443759	RCV001240159\|RCV002480792;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42702185	42702185	15:g.42702185C>T	-
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=)	825	CAPN3	Conflicting interpretations of pathogenicity	371577901	RCV000356636\|RCV001079737;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702187	42702187	15:g.42702187C>T	ClinGen:CA7511713	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2115T>C (p.Asp705=)	825	CAPN3	Uncertain significance	2054158589	RCV001117731;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702193	42702193	15:g.42702193T>C	-
NM_000070.3(CAPN3):c.2115+4T>G	825	CAPN3	Uncertain significance	752436906	RCV000481941\|RCV001809442;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702197	42702197	15:g.42702197T>G	ClinGen:CA7511716	CN169374 not specified;
NM_000070.3(CAPN3):c.2115+5C>G	825	CAPN3	Uncertain significance	-1	RCV003031528;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702198	42702198	NC_000015.9:g.42702198C>G	-
NM_000070.3(CAPN3):c.2115+14C>T	825	CAPN3	Likely benign	-1	RCV002780870;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702207	42702207	NC_000015.9:g.42702207C>T	-
NM_000070.3(CAPN3):c.2115+15G>A	825	CAPN3	Likely benign	-1	RCV002970743;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702208	42702208	NC_000015.9:g.42702208G>A	-
NM_000070.3(CAPN3):c.2116-13C>T	825	CAPN3	Likely benign	765446375	RCV002144176;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702613	42702613	42702613	-
NM_000070.3(CAPN3):c.2116-9C>T	825	CAPN3	Likely benign	758850170	RCV002120158;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702617	42702617	42702617	-
NM_000070.3(CAPN3):c.2116-6C>G	825	CAPN3	Uncertain significance	1287322728	RCV001061238;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702620	42702620	15:g.42702620C>G	-
NM_000070.3(CAPN3):c.2116-6C>T	825	CAPN3	Likely benign	1287322728	RCV002196945;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702620	42702620	42702620	-
NM_000070.3(CAPN3):c.2116A>G (p.Thr706Ala)	825	CAPN3	Uncertain significance	2054176662	RCV001235258;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702626	42702626	15:g.42702626A>G	-
NM_000070.3(CAPN3):c.2117C>G (p.Thr706Arg)	825	CAPN3	Uncertain significance	1335796666	RCV002023762;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702627	42702627	42702627	-
NM_000070.3(CAPN3):c.2119G>C (p.Asp707His)	825	CAPN3	Conflicting interpretations of pathogenicity	886044427	RCV000324676\|RCV000525491;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702629	42702629	15:g.42702629G>C	ClinGen:CA10606740	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2136C>G (p.Leu712=)	825	CAPN3	Likely benign	781619293	RCV002073601;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702646	42702646	42702646	-
NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp)	825	CAPN3	Uncertain significance	748363488	RCV000644976\|RCV001766384\|RCV002507100;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267; MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702647	42702647	15:g.42702647A>G	ClinGen:CA7511748	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2140C>T (p.Leu714=)	825	CAPN3	Likely benign	-1	RCV002851113;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702650	42702650		-
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)	825	CAPN3	Conflicting interpretations of pathogenicity	770894443	RCV000412799\|RCV000644995\|RCV003475907;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702658	42702658	15:g.42702658G>T	ClinGen:CA10605085	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=)	825	CAPN3	Uncertain significance	770894443	RCV001278233;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702658	42702658	15:g.42702658G>A	-
NM_000070.3(CAPN3):c.2154C>T (p.His718=)	825	CAPN3	Likely benign	1351586112	RCV000645007;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702664	42702664	15:g.42702664C>T	ClinGen:CA489885829	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2157C>T (p.His719=)	825	CAPN3	Likely benign	1490726640	RCV002076584;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702667	42702667	42702667	-
NM_000070.3(CAPN3):c.2173A>G (p.Lys725Glu)	825	CAPN3	Uncertain significance	759328241	RCV001928098;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702683	42702683	42702683	-
NM_000070.3(CAPN3):c.2177C>T (p.Ala726Val)	825	CAPN3	Uncertain significance	2141223812	RCV001580651\|RCV001580650;	N	MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702687	42702687	42702687	-
NM_000070.3(CAPN3):c.2178C>A (p.Ala726=)	825	CAPN3	Likely benign	2141223819	RCV001392492;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702688	42702688	42702688	-
NM_000070.3(CAPN3):c.2184G>A (p.Gln728=)	825	CAPN3	Conflicting interpretations of pathogenicity	886043220	RCV000348271\|RCV000795002\|RCV003463762;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702694	42702694	NC_000015.9:g.42702694G>A	ClinGen:CA10605258	CN169374 not specified;
NM_000070.3(CAPN3):c.2184+3G>A	825	CAPN3	Uncertain significance	771917810	RCV000711015\|RCV001332161;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702697	42702697	15:g.42702697G>A	ClinGen:CA7511753	CN169374 not specified;
NM_000070.3(CAPN3):c.2184+5G>A	825	CAPN3	Uncertain significance	2054181284	RCV001297673;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702699	42702699	42702699	-
NM_000070.3(CAPN3):c.2184+20C>T	825	CAPN3	Likely benign	371912707	RCV002089605;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702714	42702714	42702714	-
NM_000070.3(CAPN3):c.2185-13T>G	825	CAPN3	Likely benign	-1	RCV003060401;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702773	42702773	NC_000015.9:g.42702773T>G	-
NM_000070.3(CAPN3):c.2185-8A>G	825	CAPN3	Likely benign	1470041180	RCV001473002;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702778	42702778	42702778	-
NM_000070.3(CAPN3):c.2185-7T>C	825	CAPN3	Likely benign	-1	RCV002801706;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702779	42702779	NC_000015.9:g.42702779T>C	-
NM_000070.3(CAPN3):c.2185-6T>C	825	CAPN3	Likely benign	2054184679	RCV002171811;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702780	42702780	42702780	-
NM_000070.3(CAPN3):c.2185-5G>A	825	CAPN3	Likely benign	2054184751	RCV001504367;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702781	42702781	42702781	-
NM_000070.3(CAPN3):c.2185-4C>A	825	CAPN3	Likely benign	1472624992	RCV002109088;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702782	42702782	42702782	-
NM_000070.3(CAPN3):c.2190T>C (p.Ile730=)	825	CAPN3	Likely benign	2141224176	RCV002210373;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702791	42702791	42702791	-
NM_000070.3(CAPN3):c.2195A>C (p.Lys732Thr)	825	CAPN3	Uncertain significance	2141224186	RCV001580647\|RCV001580646;	N	MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702796	42702796	42702796	-
NM_000070.3(CAPN3):c.2199C>T (p.His733=)	825	CAPN3	Likely benign	1163171530	RCV002113505;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702800	42702800	42702800	-
NM_000070.3(CAPN3):c.2200T>C (p.Tyr734His)	825	CAPN3	Uncertain significance	-1	RCV002584313;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702801	42702801	NC_000015.9:g.42702801T>C	-
NM_000070.3(CAPN3):c.2206_2211dup (p.Thr736_Asp737dup)	825	CAPN3	Uncertain significance	1555423156	RCV000670100;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702803	42702804	15:g.42702803_42702804insGACACA	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2202T>C (p.Tyr734=)	825	CAPN3	Likely benign	367898987	RCV001410485;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702803	42702803	42702803	-
NM_000070.3(CAPN3):c.2208A>G (p.Thr736=)	825	CAPN3	Likely benign	972263178	RCV001401743;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702809	42702809	42702809	-
NM_000070.3(CAPN3):c.2217C>T (p.Ser739=)	825	CAPN3	Likely benign	148851444	RCV000922301;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702818	42702818	15:g.42702818C>T	-
NM_000070.3(CAPN3):c.2217C>A (p.Ser739=)	825	CAPN3	Likely benign	148851444	RCV002205415;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702818	42702818	42702818	-
NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser)	825	CAPN3	Uncertain significance	398123145	RCV000078091\|RCV000644988;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702819	42702819	15:g.42702819G>A	ClinGen:CA220344	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2219G>A (p.Gly740Asp)	825	CAPN3	Uncertain significance	750162858	RCV000594969\|RCV001270825;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702820	42702820	15:g.42702820G>A	ClinGen:CA269853659	CN169374 not specified;
NM_000070.3(CAPN3):c.2220C>G (p.Gly740=)	825	CAPN3	Likely benign	2054186570	RCV001448618;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702821	42702821	42702821	-
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)	825	CAPN3	Conflicting interpretations of pathogenicity	750083132	RCV000670735\|RCV001784265\|RCV003330890\|RCV003459619;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702831	42702831	15:g.42702831A>G	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2231G>A (p.Ser744Asn)	825	CAPN3	Uncertain significance	886044480	RCV001907811;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702832	42702832	42702832	-
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)	825	CAPN3	Conflicting interpretations of pathogenicity	147774793	RCV000246649\|RCV000723489\|RCV001085030\|RCV003242999;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MeSH:D030342,MedGen:C0950123	15	42702836	42702836	15:g.42702836C>T	ClinGen:CA242015	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys)	825	CAPN3	Uncertain significance	752155690	RCV000176144\|RCV001117732;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702837	42702837	15:g.42702837G>A	ClinGen:CA242017	CN169374 not specified;
NM_000070.3(CAPN3):c.2236G>C (p.Glu746Gln)	825	CAPN3	Uncertain significance	752155690	RCV001119286;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702837	42702837	15:g.42702837G>C	-
NM_000070.3(CAPN3):c.2242C>A (p.Arg748=)	825	CAPN3	Likely benign	768090444	RCV001494988;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702843	42702843	42702843	-
NM_000070.3(CAPN3):c.2245A>C (p.Asn749His)	825	CAPN3	Uncertain significance	201012232	RCV000668734;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702846	42702846	15:g.42702846A>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2249C>T (p.Ala750Val)	825	CAPN3	Uncertain significance	371367772	RCV000821812;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702850	42702850	15:g.42702850C>T	-
NM_000070.3(CAPN3):c.2250A>G (p.Ala750=)	825	CAPN3	Likely benign	1396899657	RCV000951881;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702851	42702851	15:g.42702851A>G	-
NM_000070.3(CAPN3):c.2250A>C (p.Ala750=)	825	CAPN3	Likely benign	1396899657	RCV002200061;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702851	42702851	42702851	-
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del)	825	CAPN3	Conflicting interpretations of pathogenicity	886043333	RCV000266618\|RCV000666686;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702856	42702858	15:g.42702856_42702858del	ClinGen:CA10605392	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2256C>T (p.Asn752=)	825	CAPN3	Likely benign	11557721	RCV001467539;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702857	42702857	42702857	-
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)	825	CAPN3	Conflicting interpretations of pathogenicity	146923842	RCV000410341\|RCV000723527\|RCV001824134\|RCV002265720\|RCV002288958;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MedGen:CN239245\|MedGen:CN169374\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702858	42702858	15:g.42702858G>A	ClinGen:CA7511784	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)	825	CAPN3	Likely benign	755010088	RCV001278234;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702860	42702860	15:g.42702860C>T	-
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr)	825	CAPN3	Uncertain significance	137927542	RCV001280806\|RCV001786462\|RCV001732108;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42702861	42702861	15:g.42702861G>A	-
NM_000070.3(CAPN3):c.2263+3G>C	825	CAPN3	Uncertain significance	2054188689	RCV001928591;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702867	42702867	42702867	-
NM_000070.3(CAPN3):c.2263+5T>C	825	CAPN3	Uncertain significance	-1	RCV002620749;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702869	42702869	NC_000015.9:g.42702869T>C	-
NM_000070.3(CAPN3):c.2263+13_2263+16del	825	CAPN3	Likely benign	2054188913	RCV002125763;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702872	42702875	42702871	-
NM_000070.3(CAPN3):c.2263+9A>G	825	CAPN3	Likely benign	1270452281	RCV001465450;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702873	42702873	42702873	-
NM_000070.3(CAPN3):c.2263+14A>G	825	CAPN3	Likely benign	886038225	RCV000252617\|RCV000672523;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42702878	42702878	NC_000015.9:g.42702878A>G	ClinGen:CA10587197	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2264-11C>T	825	CAPN3	Conflicting interpretations of pathogenicity	28364537	RCV000242765\|RCV000333633\|RCV000362587\|RCV001697594;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42703071	42703071	NC_000015.9:g.42703071C>T	ClinGen:CA7511811	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.2264-9C>T	825	CAPN3	Likely benign	1455297263	RCV001479137;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703073	42703073	42703073	-
NM_000070.3(CAPN3):c.2264-7T>A	825	CAPN3	Uncertain significance	2054199758	RCV001339051;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703075	42703075	42703075	-
NM_000070.3(CAPN3):c.2264-5C>G	825	CAPN3	Uncertain significance	-1	RCV003075948;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703077	42703077	NC_000015.9:g.42703077C>G	-
NM_000070.3(CAPN3):c.2264-5C>T	825	CAPN3	Likely benign	-1	RCV003024168;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703077	42703077	NC_000015.9:g.42703077C>T	-
NM_000070.3(CAPN3):c.2264-4A>G	825	CAPN3	Likely benign	770723094	RCV001424383;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703078	42703078	42703078	-
NM_000070.3(CAPN3):c.2271_2282dup (p.His757_Asn760dup)	825	CAPN3	Uncertain significance	1595847810	RCV000818348;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703085	42703086	15:g.42703085_42703086insCCACCTCAACAA	-
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)	825	CAPN3	Conflicting interpretations of pathogenicity	148246325	RCV000270323\|RCV000327631\|RCV003144204;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42703087	42703087	NC_000015.9:g.42703087C>T	ClinGen:CA7511815	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.2271C>T (p.His757=)	825	CAPN3	Likely benign	1175152438	RCV001405050;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703089	42703089	42703089	-
NM_000070.3(CAPN3):c.2282A>C (p.Gln761Pro)	825	CAPN3	Uncertain significance	373995517	RCV000597537\|RCV002531039;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703100	42703100	15:g.42703100A>C	ClinGen:CA7511818	CN169374 not specified;
NM_000070.3(CAPN3):c.2284C>T (p.Leu762Phe)	825	CAPN3	Uncertain significance	1269949487	RCV001908137;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703102	42703102	42703102	-
NM_000070.3(CAPN3):c.2292C>T (p.Asp764=)	825	CAPN3	Conflicting interpretations of pathogenicity	187279903	RCV000594942\|RCV001080050;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703110	42703110	15:g.42703110C>T	ClinGen:CA7511822	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2295C>T (p.Ile765=)	825	CAPN3	Likely benign	765507958	RCV000875945;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703113	42703113	15:g.42703113C>T	-
NM_000070.3(CAPN3):c.2295C>A (p.Ile765=)	825	CAPN3	Likely benign	-1	RCV003038935;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703113	42703113		-
NM_000070.3(CAPN3):c.2297_2299del (p.Ile766del)	825	CAPN3	Uncertain significance	1555423200	RCV000673698;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703114	42703116	15:g.42703114_42703116del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2302A>G (p.Met768Val)	825	CAPN3	Uncertain significance	-1	RCV003337984;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703120	42703120		-
NM_000070.3(CAPN3):c.2305C>A (p.Arg769=)	825	CAPN3	Likely benign	868791726	RCV001467098;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703123	42703123	42703123	-
NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro)	825	CAPN3	Conflicting interpretations of pathogenicity	80338802	RCV000808148\|RCV003461179;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703124	42703124	15:g.42703124G>C	-
NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu)	825	CAPN3	Uncertain significance	-1	RCV003326234;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703124	42703124		-
NM_000070.3(CAPN3):c.2310C>T (p.Tyr770=)	825	CAPN3	Conflicting interpretations of pathogenicity	780810538	RCV000365423\|RCV001089145;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703128	42703128	15:g.42703128C>T	ClinGen:CA7511826	CN169374 not specified;
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)	825	CAPN3	Conflicting interpretations of pathogenicity	886043191	RCV000328442\|RCV001859629\|RCV003475909;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703129	42703129	15:g.42703129G>A	ClinGen:CA7511827	CN169374 not specified;
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup)	825	CAPN3	Uncertain significance	753836989	RCV000666622\|RCV003144468;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN517202	15	42703131	42703132	15:g.42703131_42703132insGAC	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2314G>A (p.Asp772Asn)	825	CAPN3	Uncertain significance	-1	RCV003031153;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703132	42703132	NC_000015.9:g.42703132G>A	-
NM_000070.3(CAPN3):c.2328C>T (p.Asn776=)	825	CAPN3	Likely benign	-1	RCV003040566;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703146	42703146		-
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)	825	CAPN3	Conflicting interpretations of pathogenicity	149969786	RCV000171232\|RCV000644992;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703147	42703147	15:g.42703147A>G	ClinGen:CA235924	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2330T>C (p.Ile777Thr)	825	CAPN3	Uncertain significance	1457098622	RCV000668446;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703148	42703148	15:g.42703148T>C	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)	825	CAPN3	Benign/Likely benign	115311625	RCV000078094\|RCV000499264\|RCV000859376;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42703150	42703150	15:g.42703150G>A	ClinGen:CA145718	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2337T>C (p.Phe779=)	825	CAPN3	Likely benign	2054205133	RCV001400740;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703155	42703155	42703155	-
NM_000070.3(CAPN3):c.2340C>T (p.Asp780=)	825	CAPN3	Likely benign	1413886982	RCV001449329;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703158	42703158	42703158	-
NM_000070.3(CAPN3):c.2348T>G (p.Ile783Ser)	825	CAPN3	Uncertain significance	1309223901	RCV000596059\|RCV001860151;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703166	42703166	15:g.42703166T>G	ClinGen:CA392002142	CN169374 not specified;
NM_000070.3(CAPN3):c.2355C>T (p.Cys785=)	825	CAPN3	Likely benign	2141225879	RCV001463037;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703173	42703173	42703173	-
NM_000070.3(CAPN3):c.2358C>T (p.Phe786=)	825	CAPN3	Likely benign	576710955	RCV001273377;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703176	42703176	15:g.42703176C>T	-
NM_000070.3(CAPN3):c.2359G>A (p.Val787Ile)	825	CAPN3	Uncertain significance	755736723	RCV000730384\|RCV001278235;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703177	42703177	NC_000015.9:g.42703177G>A	-
NM_000070.3(CAPN3):c.2362A>C (p.Arg788=)	825	CAPN3	Likely benign	760891133	RCV000551897;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703180	42703180	NC_000015.9:g.42703180A>C	ClinGen:CA489885954	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2363G>A (p.Arg788Lys)	825	CAPN3	Uncertain significance	769208910	RCV000798926;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703181	42703181	15:g.42703181G>A	-
NM_000070.3(CAPN3):c.2364G>A (p.Arg788=)	825	CAPN3	Likely benign	2141225975	RCV002088033;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703182	42703182	42703182	-
NM_000070.3(CAPN3):c.2367G>A (p.Leu789=)	825	CAPN3	Likely benign	776998932	RCV001460428;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703185	42703185	42703185	-
NM_000070.3(CAPN3):c.2375T>C (p.Met792Thr)	825	CAPN3	Uncertain significance	-1	RCV002926943;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703193	42703193	NC_000015.9:g.42703193T>C	-
NM_000070.3(CAPN3):c.2380+2T>G	825	CAPN3	Conflicting interpretations of pathogenicity	761935462	RCV000779157\|RCV001814232\|RCV003229862;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703200	42703200	NC_000015.9:g.42703200T>G	-
NM_000070.3(CAPN3):c.2380+7G>A	825	CAPN3	Likely benign	1437762605	RCV001403358;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703205	42703205	42703205	-
NM_000070.3(CAPN3):c.2380+12del	825	CAPN3	Benign/Likely benign	28364538	RCV000152926\|RCV000283123\|RCV000384537\|RCV001573722;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352\|MedGen:C3661900	15	42703210	42703210	15:g.42703210_42703210del	ClinGen:CA179841	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.2380+13G>A	825	CAPN3	Likely benign	542367782	RCV002121787;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703211	42703211	42703211	-
NM_000070.3(CAPN3):c.2380+17_2380+26del	825	CAPN3	Likely benign	-1	RCV002602870;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703215	42703224	NC_000015.9:g.42703215_42703224del	-
NM_000070.3(CAPN3):c.2380+19C>T	825	CAPN3	Conflicting interpretations of pathogenicity	141234995	RCV000594857\|RCV001278236;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703217	42703217	15:g.42703217C>T	ClinGen:CA7511845	CN169374 not specified;
NM_000070.3(CAPN3):c.2381-79T>C	825	CAPN3	Benign	3115884	RCV000837884\|RCV001526798\|RCV001526772;	N	MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703406	42703406	15:g.42703406T>C	-
NM_000070.3(CAPN3):c.2381-19C>T	825	CAPN3	Uncertain significance	370531419	RCV001940259;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703466	42703466	42703466	-
NM_000070.3(CAPN3):c.2381-12A>G	825	CAPN3	Conflicting interpretations of pathogenicity	73402734	RCV000244102\|RCV000321788\|RCV000379129;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703473	42703473	NC_000015.9:g.42703473A>G	ClinGen:CA7511860	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.2381-11T>C	825	CAPN3	Likely benign	1471228630	RCV001975036;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703474	42703474	42703474	-
NM_000070.3(CAPN3):c.2381-5C>T	825	CAPN3	Likely benign	-1	RCV003029285;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703480	42703480	NC_000015.9:g.42703480C>T	-
NM_000070.3(CAPN3):c.2387T>C (p.Phe796Ser)	825	CAPN3	Uncertain significance	-1	RCV003337980;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703491	42703491		-
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg)	825	CAPN3	Uncertain significance	766630908	RCV000194234\|RCV000668046;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703494	42703494	NC_000015.9:g.42703494A>G	ClinGen:CA208282	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2409A>T (p.Gly803=)	825	CAPN3	Conflicting interpretations of pathogenicity	143139259	RCV000176354\|RCV002517696;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703513	42703513	15:g.42703513A>T	ClinGen:CA242275	CN169374 not specified;
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)	825	CAPN3	Conflicting interpretations of pathogenicity	143139259	RCV000335103\|RCV000373425\|RCV000380995;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352\|MedGen:C3661900	15	42703513	42703513	15:g.42703513A>G	ClinGen:CA7511863	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.2416_2417dup (p.Ile807fs)	825	CAPN3	Uncertain significance	1131691320	RCV000492975\|RCV001043580;	N	MedGen:CN169374\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703518	42703519	NC_000015.9:g.42703520_42703521dup	ClinGen:CA645369634	CN169374 not specified;
NM_000070.3(CAPN3):c.2427C>G (p.Leu809=)	825	CAPN3	Likely benign	765208496	RCV001410340;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703531	42703531	42703531	-
NM_000070.3(CAPN3):c.2429A>G (p.Asn810Ser)	825	CAPN3	Uncertain significance	200485658	RCV000400275\|RCV000798877;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703533	42703533	NC_000015.9:g.42703533A>G	ClinGen:CA7511867	CN169374 not specified;
NM_000070.3(CAPN3):c.2430C>T (p.Asn810=)	825	CAPN3	Likely benign	926395403	RCV000929102;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703534	42703534	15:g.42703534C>T	-
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)	825	CAPN3	Conflicting interpretations of pathogenicity	28364543	RCV000152927\|RCV000281259\|RCV000338574\|RCV000711018;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42703537	42703537	15:g.42703537T>C	ClinGen:CA179842	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.2439+7C>G	825	CAPN3	Likely benign	1425011178	RCV002123697;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703550	42703550	42703550	-
NM_000070.3(CAPN3):c.2439+9T>C	825	CAPN3	Likely benign	746615699	RCV002209162;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703552	42703552	42703552	-
NM_000070.3(CAPN3):c.2439+20C>T	825	CAPN3	Likely benign	371395429	RCV002154222;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703563	42703563	42703563	-
NM_000070.3(CAPN3):c.2440-75C>G	825	CAPN3	Uncertain significance	184526584	RCV002225229;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703870	42703870	42703870	-
NM_000070.3(CAPN3):c.2440-16T>C	825	CAPN3	Likely benign	772187322	RCV002102444;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703929	42703929	42703929	-
NM_000070.3(CAPN3):c.2440-13G>C	825	CAPN3	Likely benign	775849138	RCV002163518;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703932	42703932	42703932	-
NM_000070.3(CAPN3):c.2440-12G>T	825	CAPN3	Likely benign	2141230335	RCV001993072;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703933	42703933	42703933	-
NM_000070.3(CAPN3):c.2440-10CTT[3]	825	CAPN3	Benign	-1	RCV002914625;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703934	42703935	NC_000015.9:g.42703935CTT[3]	-
NM_000070.3(CAPN3):c.2440-6_2440-3del	825	CAPN3	Conflicting interpretations of pathogenicity	1555423426	RCV000665569\|RCV001310747;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900	15	42703936	42703939	15:g.42703936_42703939del	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2440-8_2440-7insA	825	CAPN3	Conflicting interpretations of pathogenicity	1555423427	RCV000669362;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703937	42703938	15:g.42703937_42703938insA	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2440-7C>T	825	CAPN3	Likely benign	-1	RCV002717338;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703938	42703938	NC_000015.9:g.42703938C>T	-
NM_000070.3(CAPN3):c.2440-4T>C	825	CAPN3	Likely benign	1361102122	RCV002207827;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703941	42703941	42703941	-
NM_000070.3(CAPN3):c.2440-3C>G	825	CAPN3	Conflicting interpretations of pathogenicity	761757153	RCV000321946\|RCV001062957;	N	MedGen:CN517202\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703942	42703942	15:g.42703942C>G	ClinGen:CA7511914	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.2440T>C (p.Trp814Arg)	825	CAPN3	Uncertain significance	-1	RCV002636480;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703945	42703945	NC_000015.9:g.42703945T>C	-
NM_000070.3(CAPN3):c.2442G>C (p.Trp814Cys)	825	CAPN3	Uncertain significance	1595850277	RCV001243672;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703947	42703947	15:g.42703947G>C	-
NM_000070.3(CAPN3):c.2449C>T (p.Leu817Phe)	825	CAPN3	Uncertain significance	2054258897	RCV001243068;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703954	42703954	15:g.42703954C>T	-
NM_000070.3(CAPN3):c.2451C>T (p.Leu817=)	825	CAPN3	Likely benign	2141230477	RCV002099821;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703956	42703956	42703956	-
NM_000070.3(CAPN3):c.2454C>T (p.Thr818=)	825	CAPN3	Likely benign	1439638044	RCV001477387;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703959	42703959	42703959	-
NM_000070.3(CAPN3):c.2460T>C (p.Tyr820=)	825	CAPN3	Likely benign	1021209064	RCV002214824;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703965	42703965	42703965	-
NM_000070.3(CAPN3):c.2462C>T (p.Ala821Val)	825	CAPN3	Uncertain significance	398123148	RCV000078096\|RCV001854371;	N	MedGen:C3661900\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703967	42703967	15:g.42703967C>T	ClinGen:CA220350	CN169374 not specified;
NM_000070.3(CAPN3):c.2463C>T (p.Ala821=)	825	CAPN3	Likely benign	751041366	RCV002180491;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42703968	42703968	42703968	-
NM_000070.3(CAPN3):c.2465G>T (p.Ter822Leu)	825	CAPN3	Conflicting interpretations of pathogenicity	1162942997	RCV000692092\|RCV003472206;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42703970	42703970	15:g.42703970G>T	-	C1869123 253600 Limb-girdle muscular dystrophy, type 2A;
NM_000070.3(CAPN3):c.*134C>T	825	CAPN3	Benign	3098423	RCV000259632\|RCV000312848\|RCV000401564\|RCV001610782\|RCV001533476;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:C3661900\|MONDO:MONDO:0029133,MedGen:C4748295,OMIM:618129	15	42704105	42704105	15:g.42704105C>T	ClinGen:CA10605516	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.*136C>T	825	CAPN3	Uncertain significance	980663241	RCV001121303;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704107	42704107	15:g.42704107C>T	-
NM_000070.3(CAPN3):c.*139C>T	825	CAPN3	Uncertain significance	1338589746	RCV001121304;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704110	42704110	15:g.42704110C>T	-
NM_000070.3(CAPN3):c.*170G>C	825	CAPN3	Uncertain significance	886051149	RCV000351517\|RCV000401852;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704141	42704141	NC_000015.9:g.42704141G>C	ClinGen:CA10645906	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.*202A>G	825	CAPN3	Uncertain significance	886051150	RCV000307245\|RCV000364209;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704173	42704173	NC_000015.9:g.42704173A>G	ClinGen:CA10635980	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.*211G>A	825	CAPN3	Uncertain significance	112661890	RCV000272045\|RCV000310795;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704182	42704182	NC_000015.9:g.42704182G>A	ClinGen:CA10645916	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.*237A>G	825	CAPN3	Uncertain significance	753401049	RCV001121305;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704208	42704208	15:g.42704208A>G	-
NM_000070.3(CAPN3):c.*265C>T	825	CAPN3	Uncertain significance	74009086	RCV001121306;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704236	42704236	15:g.42704236C>T	-
NM_000070.3(CAPN3):c.*375C>T	825	CAPN3	Uncertain significance	1399469008	RCV001116389;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704346	42704346	15:g.42704346C>T	-
NM_000070.3(CAPN3):c.*387C>T	825	CAPN3	Uncertain significance	2054279990	RCV001116390;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704358	42704358	15:g.42704358C>T	-
NM_000070.3(CAPN3):c.*395G>C	825	CAPN3	Uncertain significance	774343819	RCV001116391;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704366	42704366	15:g.42704366G>C	-
NM_000070.3(CAPN3):c.*436del	825	CAPN3	Uncertain significance	774244796	RCV000261566\|RCV000358617;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704404	42704404	15:g.42704404_42704404del	ClinGen:CA7511938	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.*436G>A	825	CAPN3	Uncertain significance	1285650098	RCV001116392;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704407	42704407	15:g.42704407G>A	-
NM_000070.3(CAPN3):c.*443A>C	825	CAPN3	Uncertain significance	886051152	RCV000316749\|RCV000380589;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704414	42704414	15:g.42704414A>C	ClinGen:CA10641823	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.482_485dup	825	CAPN3	Uncertain significance	780202767	RCV000267340\|RCV000322472;	N	MedGen:CN239352\|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267	15	42704451	42704452	15:g.42704451_42704452insACTC	ClinGen:CA10646936	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000070.3(CAPN3):c.*534T>C	825	CAPN3	Uncertain significance	772498665	RCV000291826\|RCV000376981\|RCV003225940;	N	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600, Orphanet:267\|MedGen:CN239352\|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015	15	42704505	42704505	15:g.42704505T>C	ClinGen:CA10641827	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen