Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)	SNV Germline	Chr15:42410926	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA127306	rs_80338802	12 SubmittersRCV000020096 RCV000711017 RCV001814000 RCV003473106
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	SNV Germline	Chr15:42402972	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341470	rs_121434544	12 SubmittersRCV000019180 RCV000726518 RCV001198825 RCV003323362
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	SNV Germline	Chr15:42384501	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA341471	rs_121434545	10 SubmittersRCV000019181 RCV001813749 RCV004998102
NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)	SNV Germline	Chr15:42360062	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter	CA341473	rs_121434546	2 SubmittersRCV000019182
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)	SNV Germline	Chr15:42392649	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA341474	rs_121434547	7 SubmittersRCV000417420 RCV000019183 RCV003473107
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)	SNV Germline	Chr15:42394306	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	No Assertion Criteria Provided	CA341475	rs_267606703	1 SubmittersRCV000019186
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	SNV Germline	Chr15:42401755	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Muscular dystrophy, limb-girdle, autosomal dominant 4	Reviewed By Expert Panel	CA341479	rs_121434548	16 SubmittersRCV000019189 RCV000724646 RCV002222356 RCV002490391 RCV003473110
NM_000070.3(CAPN3):c.946-1G>A	SNV Germline	Chr15:42392638	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter	CA341532	rs_80338801	2 SubmittersRCV000020097
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)	SNV Germline	Chr15:42401721	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Muscular dystrophy, limb-girdle, autosomal dominant 4 CAPN3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220341	rs_201736037	11 SubmittersRCV000280277 RCV000790779 RCV002271401 RCV002498373 RCV003474672 RCV004732653
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	SNV Germline	Chr15:42402879	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA220342	rs_398123143	9 SubmittersRCV000338313 RCV000790834 RCV003474673
NM_000070.3(CAPN3):c.1746-20C>G	SNV Germline	Chr15:42403721	Pathogenic	not specified Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided 8 conditions Autosomal recessive limb-girdle muscular dystrophy See cases	Reviewed By Expert Panel	CA220343	rs_201892814	13 SubmittersRCV000078089 RCV000559180 RCV000585323 RCV000626578 RCV003225929 RCV004797780
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)	SNV Germline	Chr15:42411299	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA220348	rs_149095128	13 SubmittersRCV000078095 RCV000201145 RCV001804832 RCV002504988 RCV003474674
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)	SNV Germline	Chr15:42359867	Conflicting classifications of pathogenicity	not specified Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA145724	rs_28364364	8 SubmittersRCV000078101 RCV000314855 RCV000362522 RCV000711022
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)	SNV Germline	Chr15:42408240	Conflicting classifications of pathogenicity	Condition: not provided Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2A not specified CAPN3-related disorder	Criteria Provided Conflicting Classifications	CA230931	rs_202019404	6 SubmittersRCV000116540 RCV000298364 RCV000355668 RCV000418961 RCV004529960
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	SNV Germline	Chr15:42410646	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA345536	rs_587780290	15 SubmittersRCV000116542 RCV000489478 RCV001814062 RCV003474720
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)	SNV Germline	Chr15:42402956	Pathogenic	Muscular dystrophy, limb-girdle, autosomal dominant 4 CAPN3-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA233622	rs_727503839	8 SubmittersRCV003474805 RCV004532716 RCV000174442 RCV000790649 RCV003114302
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	SNV Germline	Chr15:42401754	Pathogenic	Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4 CAPN3-related disorder	Reviewed By Expert Panel	CA233621	rs_141656719	21 SubmittersRCV000152924 RCV000762950 RCV000173975 RCV003987377 RCV001332159 RCV001813761
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)	SNV Germline	Chr15:42411339	Conflicting classifications of pathogenicity	not specified Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA179842	rs_28364543	7 SubmittersRCV000152927 RCV000281259 RCV000338574 RCV000711018
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)	SNV Germline	Chr15:42359950	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA346852	rs_794726871	9 SubmittersRCV000173055 RCV000710093 RCV003114322 RCV003462272
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)	SNV Germline	Chr15:42401763	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA239448	rs_557164942	7 SubmittersRCV000173976 RCV000201107 RCV003462275
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)	SNV Germline	Chr15:42410446	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA241878	rs_794727318	4 SubmittersRCV000597464 RCV000798205 RCV003462280
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)	SNV Germline	Chr15:42410638	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242015	rs_147774793	9 SubmittersRCV000246649 RCV000723489 RCV001085030 RCV003242999
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	SNV Germline	Chr15:42410958	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA346865	rs_778768583	12 SubmittersRCV000176251 RCV000386470 RCV003474930
NM_000070.3(CAPN3):c.2409A>T (p.Gly803=)	SNV Germline	Chr15:42411315	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA242275	rs_143139259	2 SubmittersRCV000176354 RCV002517696
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)	SNV Germline	Chr15:42387779	Conflicting classifications of pathogenicity	not specified Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided CAPN3-related disorder	Criteria Provided Conflicting Classifications	CA245057	rs_144383442	8 SubmittersRCV000178035 RCV000282391 RCV000374364 RCV000724809 RCV004732747
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)	SNV Germline	Chr15:42394302	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA247490	rs_794727895	4 SubmittersRCV000180098 RCV001332158 RCV003474937
NM_000070.3(CAPN3):c.1557C>T (p.His519=)	SNV Germline	Chr15:42402814	Conflicting classifications of pathogenicity	not specified Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA205369	rs_368385372	6 SubmittersRCV000192510 RCV000296481 RCV000325766 RCV000726184
NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter)	SNV Germline	Chr15:42384492	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts	CA358285	rs_1801505	3 SubmittersRCV000370685 RCV001052904
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	SNV Germline	Chr15:42399617	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA347525	rs_376107921	12 SubmittersRCV000201096 RCV000520664 RCV000762949 RCV001814105 RCV003474968 RCV004998417
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)	SNV Germline	Chr15:42359938	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA347575	rs_774048743	9 SubmittersRCV000201177 RCV000762947 RCV001781585 RCV003235123 RCV003462346
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)	SNV Germline	Chr15:42359951	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Reviewed By Expert Panel	CA347493	rs_863224958	10 SubmittersRCV000201045 RCV001781586 RCV001814106 RCV003330572 RCV003474971
NM_000070.3(CAPN3):c.499-1G>A	SNV Germline	Chr15:42387752	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA347510	rs_863224964	6 SubmittersRCV000201080 RCV004808628 RCV003462349
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)	SNV Germline	Chr15:42387820	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided not specified Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA347491	rs_758795961	6 SubmittersRCV000201041 RCV000729232 RCV003330573 RCV003462350
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	SNV Germline	Chr15:42396801	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA347568	rs_775453643	18 SubmittersRCV000201159 RCV000710091 RCV001814104 RCV003462345
NM_000070.3(CAPN3):c.1194-9A>G	SNV Germline	Chr15:42399483	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347487	rs_374665929	10 SubmittersRCV000201038 RCV000516175 RCV003474967 RCV004796096 RCV003225933
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	SNV Germline	Chr15:42399641	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA347482	rs_863224956	11 SubmittersRCV000201031 RCV000710092 RCV003387802 RCV003474969
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)	SNV Germline	Chr15:42401751	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA347587	rs_863224957	8 SubmittersRCV000201199 RCV000516176 RCV002492925 RCV003474970
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)	SNV Germline	Chr15:42402971	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA347588	rs_863224959	10 SubmittersRCV000201202 RCV000725109 RCV001814107 RCV002500625 RCV003474972
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)	SNV Germline	Chr15:42409327	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA347555	rs_863224960	3 SubmittersRCV000201136 RCV001814108 RCV003474973
NM_000070.3(CAPN3):c.1992+1G>T	SNV Germline	Chr15:42409381	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA347506	rs_863224961	9 SubmittersRCV000201069 RCV000725235 RCV001814109 RCV003474974
NM_000070.3(CAPN3):c.2381-2A>G	SNV Germline	Chr15:42411285	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA347520	rs_863224962	4 SubmittersRCV000201091 RCV003462347
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)	SNV Germline	Chr15:42386226	Pathogenic	Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA10602399	rs_878854364	4 SubmittersRCV000337512 RCV000762948 RCV001854838 RCV003475835
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)	SNV Germline	Chr15:42399600	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA7511312	rs_751429914	6 SubmittersRCV000253878 RCV000669405 RCV000892233
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)	SNV Germline	Chr15:42402800	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA7511431	rs_150226817	9 SubmittersRCV000245397 RCV000692602 RCV000724737
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)	SNV Germline	Chr15:42402925	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511463	rs_199884116	7 SubmittersRCV000250156 RCV000725636 RCV001080761
NM_000070.3(CAPN3):c.2264-11C>T	SNV Germline	Chr15:42410873	Conflicting classifications of pathogenicity	not specified Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA7511811	rs_28364537	4 SubmittersRCV000242765 RCV000333633 RCV000362587 RCV001697594
NM_000070.3(CAPN3):c.2381-12A>G	SNV Germline	Chr15:42411275	Conflicting classifications of pathogenicity	not specified Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511860	rs_73402734	4 SubmittersRCV000244102 RCV000321788 RCV000379129
NM_000070.3(CAPN3):c.1115+5G>C	SNV Germline	Chr15:42394346	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA10588583	rs_886039597	2 SubmittersRCV000255970 RCV000822784
NM_000070.3(CAPN3):c.802-9G>A	SNV Germline	Chr15:42389944	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511134	rs_761211705	10 SubmittersRCV000383471 RCV000400325 RCV002479996 RCV003475885
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)	SNV Germline	Chr15:42399640	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511324	rs_776043976	11 SubmittersRCV000291465 RCV000274198 RCV003463735
NM_000070.3(CAPN3):c.2185-2A>G	SNV Germline	Chr15:42410586	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA501130	rs_886041335	6 SubmittersRCV000343664 RCV000593825 RCV003463736
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)	SNV Germline	Chr15:42409951	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA7511704	rs_140425651	4 SubmittersRCV000375518 RCV000644989 RCV003144189
NM_000070.3(CAPN3):c.2440-3C>G	SNV Germline	Chr15:42411744	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511914	rs_761757153	3 SubmittersRCV000321946 RCV001062957
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)	SNV Germline	Chr15:42410660	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided CAPN3-related disorder not specified Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA7511784	rs_146923842	16 SubmittersRCV000410341 RCV000723527 RCV001824134 RCV002265720 RCV002288958
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)	SNV Germline	Chr15:42399525	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A CAPN3-related disorder	Criteria Provided Conflicting Classifications	CA7511296	rs_111806046	4 SubmittersRCV000396394 RCV001087973 RCV004542969
NM_000070.3(CAPN3):c.2051-1G>T	SNV Germline	Chr15:42409930	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA10603816	rs_886042108	9 SubmittersRCV000391266 RCV000724152 RCV003475889
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)	SNV Germline	Chr15:42394289	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511239	rs_749099493	9 SubmittersRCV000389096 RCV000711013 RCV003463741
NM_000070.3(CAPN3):c.930T>C (p.Asp310=)	SNV Germline	Chr15:42390081	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided CAPN3-related disorder	Criteria Provided Conflicting Classifications	CA7511168	rs_150356488	5 SubmittersRCV000275858 RCV000532053 RCV001697700 RCV004542981
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)	SNV Germline	Chr15:42399648	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided CAPN3-related disorder	Criteria Provided Conflicting Classifications	CA7511325	rs_144944366	5 SubmittersRCV000272201 RCV000645006 RCV001697735 RCV004542982
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	SNV Germline	Chr15:42399548	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511300	rs_200646556	14 SubmittersRCV000340100 RCV000724905 RCV001814141 RCV002502096 RCV002509343 RCV003475890
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser)	SNV Germline	Chr15:42387754	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA10604052	rs_886042296	3 SubmittersRCV000275677 RCV003765590
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	SNV Germline	Chr15:42399601	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA7511313	rs_149914792	14 SubmittersRCV000440492 RCV000820741 RCV001775111 RCV003475891 RCV002480004 RCV004689699
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)	SNV Germline	Chr15:42410925	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided See cases Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA10604167	rs_868791726	10 SubmittersRCV000295812 RCV000711016 RCV001420333 RCV003323488 RCV003475893
NM_000070.3(CAPN3):c.1993-1G>A	SNV Germline	Chr15:42409786	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511659	rs_369552114	8 SubmittersRCV000382987 RCV000420333 RCV000763350 RCV003475894
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)	SNV Germline	Chr15:42401791	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4 Inborn genetic diseases CAPN3-related disorder	Criteria Provided Conflicting Classifications	CA7511375	rs_148044781	13 SubmittersRCV000414202 RCV000644997 RCV002222470 RCV003475895 RCV004017582 RCV004732818
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter)	SNV Germline	Chr15:42402868	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA10604243	rs_886042439	6 SubmittersRCV000349807 RCV001729504 RCV001814142 RCV004567826
NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg)	SNV Germline	Chr15:42388995	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10604244	rs_886042440	4 SubmittersRCV000359000 RCV000819248 RCV004999206
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)	SNV Germline	Chr15:42390016	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511150	rs_528417986	9 SubmittersRCV000340129 RCV000490012 RCV001814143 RCV002271482 RCV003475896
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)	SNV Germline	Chr15:42410908	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511820	rs_764459544	6 SubmittersRCV000301610 RCV000725121 RCV003226273 RCV003463744
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)	SNV Germline	Chr15:42360050	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 See cases	Criteria Provided Multiple Submitters No Conflicts	CA10604293	rs_886042478	10 SubmittersRCV000311426 RCV000489536 RCV003475897 RCV004797802
NM_000070.3(CAPN3):c.2310C>T (p.Tyr770=)	SNV Germline	Chr15:42410930	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511826	rs_780810538	2 SubmittersRCV000365423 RCV001089145
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)	SNV Germline	Chr15:42399555	Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy CAPN3-related disorder	Reviewed By Expert Panel	CA7511304	rs_139836397	7 SubmittersRCV000342508 RCV000813198 RCV003475898 RCV004999209 RCV004732819
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)	SNV Germline	Chr15:42409985	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA10604398	rs_886042557	5 SubmittersRCV000311834 RCV000725206 RCV003475900
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)	SNV Germline	Chr15:42384511	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A not specified Muscular dystrophy, limb-girdle, autosomal dominant 4 CAPN3-related disorder	Criteria Provided Conflicting Classifications	CA7510921	rs_747026964	11 SubmittersRCV000440617 RCV000675143 RCV002282100 RCV003475901 RCV004732820
NM_000070.3(CAPN3):c.1566G>A (p.Lys522=)	SNV Germline	Chr15:42402823	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511438	rs_201116482	2 SubmittersRCV000282116 RCV002059125
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)	SNV Germline	Chr15:42410645	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA7511779	rs_768090444	9 SubmittersRCV000279441 RCV000725244 RCV003475902 RCV004999212
NM_000070.3(CAPN3):c.1746-7C>G	SNV Germline	Chr15:42403734	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511492	rs_199978708	5 SubmittersRCV000382613 RCV001084708
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)	SNV Germline	Chr15:42399549	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511302	rs_151090625	4 SubmittersRCV000286857 RCV001121213
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)	SNV Germline	Chr15:42399616	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511318	rs_777323132	8 SubmittersRCV000269452 RCV000725372 RCV001814145 RCV003475903
NM_000070.3(CAPN3):c.1020G>T (p.Gly340=)	SNV Germline	Chr15:42392713	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511220	rs_372401631	3 SubmittersRCV000343857 RCV001087287
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)	SNV Germline	Chr15:42402893	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature	Criteria Provided Conflicting Classifications	CA7511450	rs_372438001	6 SubmittersRCV000591859 RCV000725457 RCV001814146
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)	SNV Germline	Chr15:42387787	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA10604803	rs_794727615	2 SubmittersRCV000354989 RCV001004990
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	SNV Germline	Chr15:42399631	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511320	rs_773827877	11 SubmittersRCV000405059 RCV000725472 RCV002282104 RCV003475905
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)	SNV Germline	Chr15:42399554	Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10604828	rs_886042895	5 SubmittersRCV000596878 RCV000778428 RCV003463755 RCV004999218
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=)	SNV Germline	Chr15:42409989	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511713	rs_371577901	3 SubmittersRCV000356636 RCV001079737
NM_000070.3(CAPN3):c.1332C>T (p.Ala444=)	SNV Germline	Chr15:42399630	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA10604936	rs_886042968	2 SubmittersRCV000322207 RCV001434526
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)	SNV Germline	Chr15:42388928	Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10604967	rs_779701414	6 SubmittersRCV000339333 RCV000667247 RCV004999223
NM_000070.3(CAPN3):c.1115+8A>G	SNV Germline	Chr15:42394349	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511245	rs_760196248	2 SubmittersRCV000283230 RCV001078559
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)	SNV Germline	Chr15:42410460	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA10605085	rs_770894443	7 SubmittersRCV000412799 RCV000644995 RCV003475907
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)	SNV Germline	Chr15:42399607	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511316	rs_777483913	6 SubmittersRCV000345099 RCV000725670 RCV003463759
NM_000070.3(CAPN3):c.1584C>T (p.Asn528=)	SNV Germline	Chr15:42402841	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511440	rs_530529988	3 SubmittersRCV000301661 RCV001078683
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)	SNV Germline	Chr15:42409972	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511709	rs_764370512	8 SubmittersRCV000327815 RCV000675154 RCV003463760
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)	SNV Germline	Chr15:42392694	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7511211	rs_749863676	9 SubmittersRCV000544623 RCV000711012 RCV002469098
NM_000070.3(CAPN3):c.581C>T (p.Ser194Phe)	SNV Germline	Chr15:42387835	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA10605165	rs_886043143	2 SubmittersRCV000396191 RCV004764924
NM_000070.3(CAPN3):c.351C>T (p.Asn117=)	SNV Germline	Chr15:42384524	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7510923	rs_772886155	2 SubmittersRCV000363118 RCV001457345
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)	SNV Germline	Chr15:42410931	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA7511827	rs_886043191	5 SubmittersRCV000328442 RCV001859629 RCV003475909
NM_000070.3(CAPN3):c.2184G>A (p.Gln728=)	SNV Germline	Chr15:42410496	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA10605258	rs_886043220	3 SubmittersRCV000348271 RCV000795002 RCV003463762
NM_000070.3(CAPN3):c.648C>T (p.Tyr216=)	SNV Germline	Chr15:42388943	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511091	rs_138846390	3 SubmittersRCV000284435 RCV001487950
NM_000070.3(CAPN3):c.183C>T (p.Phe61=)	SNV Germline	Chr15:42359988	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A CAPN3-related disorder	Criteria Provided Conflicting Classifications	CA7510870	rs_146069933	3 SubmittersRCV000283954 RCV001088907 RCV004543074
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)	SNV Germline	Chr15:42408252	Conflicting classifications of pathogenicity	Limb-girdle muscular dystrophy, recessive Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511573	rs_201607149	5 SubmittersRCV000311434 RCV000339965 RCV000408139
NM_000070.3(CAPN3):c.1030-7G>A	SNV Germline	Chr15:42394249	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA10605405	rs_886043344	2 SubmittersRCV000285940 RCV001479502
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)	SNV Germline	Chr15:42401763	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA10605479	rs_557164942	5 SubmittersRCV000267747 RCV000669446 RCV002494858 RCV003463765
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)	SNV Germline	Chr15:42401810	Pathogenic	Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10605515	rs_886043432	6 SubmittersRCV000313599 RCV001196491 RCV001249768 RCV004999233
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys)	SNV Germline	Chr15:42384540	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA10605522	rs_886043437	2 SubmittersRCV000391985 RCV000534527
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)	SNV Germline	Chr15:42360037	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7510874	rs_138867099	6 SubmittersRCV000408097 RCV001086033
NM_000070.3(CAPN3):c.802-10C>T	SNV Germline	Chr15:42389943	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA10605847	rs_747895099	2 SubmittersRCV000288147 RCV001446184
NM_000070.3(CAPN3):c.1801-1G>A	SNV Germline	Chr15:42408210	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA10605901	rs_886043752	4 SubmittersRCV000310673 RCV000726084 RCV003475915
NM_000070.3(CAPN3):c.1686G>A (p.Glu562=)	SNV Germline	Chr15:42402943	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511465	rs_569866483	2 SubmittersRCV000361396 RCV001426524
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)	SNV Germline	Chr15:42388944	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511092	rs_773001194	5 SubmittersRCV000323826 RCV001068856 RCV003463771
NM_000070.3(CAPN3):c.1355-1G>C	SNV Germline	Chr15:42401640	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA7511340	rs_747557404	6 SubmittersRCV000596715 RCV001072038 RCV003463772 RCV004701388
NM_000070.3(CAPN3):c.2440-1G>A	SNV Germline	Chr15:42411746	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA10606282	rs_886044052	5 SubmittersRCV000595361 RCV000726259 RCV003475916
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)	SNV Germline	Chr15:42408227	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA7511567	rs_199806879	9 SubmittersRCV000354372 RCV000727197 RCV000763349 RCV003475918 RCV003330627
NM_000070.3(CAPN3):c.768C>T (p.Ile256=)	SNV Germline	Chr15:42389063	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511107	rs_748032310	2 SubmittersRCV000337197 RCV002518090
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	SNV Germline	Chr15:42401752	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4 CAPN3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7511363	rs_147764579	16 SubmittersRCV000350336 RCV000517354 RCV002504018 RCV002509353 RCV003475920 RCV004535436
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)	SNV Germline	Chr15:42402900	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511454	rs_146309264	4 SubmittersRCV000333524 RCV001081033
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)	SNV Germline	Chr15:42411315	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy, recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA7511863	rs_143139259	4 SubmittersRCV000335103 RCV000373425 RCV000380995
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)	SNV Germline	Chr15:42387862	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7511069	rs_763719290	4 SubmittersRCV000314946 RCV000686362 RCV001267485
NM_000070.3(CAPN3):c.2119G>C (p.Asp707His)	SNV Germline	Chr15:42410431	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA10606740	rs_886044427	2 SubmittersRCV000324676 RCV000525491
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)	SNV Germline	Chr15:42402919	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts	CA10606744	rs_752848213	2 SubmittersRCV000298797 RCV000812975
NM_000070.3(CAPN3):c.1542C>T (p.His514=)	SNV Germline	Chr15:42402799	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511430	rs_377215244	2 SubmittersRCV000385306 RCV001403267
NM_000070.3(CAPN3):c.2263+1G>A	SNV Germline	Chr15:42410667	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10606801	rs_886044475	3 SubmittersRCV000375361 RCV000726501
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser)	SNV Germline	Chr15:42402963	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA10606813	rs_886044483	2 SubmittersRCV000370228 RCV003517180
NM_000070.3(CAPN3):c.-104G>C	SNV Germline	Chr15:42359702	Conflicting classifications of pathogenicity	Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA10641815	rs_149698681	3 SubmittersRCV000349449 RCV000391068 RCV000831632
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)	SNV Germline	Chr15:42410889	Conflicting classifications of pathogenicity	Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA7511815	rs_148246325	5 SubmittersRCV000270323 RCV000327631 RCV003144204
NM_000070.3(CAPN3):c.590G>A (p.Arg197His)	SNV Germline	Chr15:42387844	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA7511064	rs_768426565	6 SubmittersRCV000387421 RCV003475931 RCV003144203
NM_000070.3(CAPN3):c.618G>A (p.Glu206=)	SNV Germline	Chr15:42387872	Conflicting classifications of pathogenicity	Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511071	rs_541597520	2 SubmittersRCV000289675 RCV000400417
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln)	SNV Germline	Chr15:42394271	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy, recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA7511234	rs_146403258	3 SubmittersRCV000261355 RCV000318913 RCV000485851
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)	SNV Germline	Chr15:42409968	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy, recessive	Criteria Provided Conflicting Classifications	CA10646935	rs_867628179	3 SubmittersRCV000276252 RCV000368483
NM_000070.3(CAPN3):c.945+14C>T	SNV Germline	Chr15:42390110	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511176	rs_763112832	3 SubmittersRCV000424719 RCV001119211
NM_000070.3(CAPN3):c.1115+2T>C	SNV Germline	Chr15:42394343	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts	CA16607778	rs_1057524468	4 SubmittersRCV000436181 RCV003476018 RCV003631123
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)	SNV Germline	Chr15:42387847	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 not specified	Criteria Provided Conflicting Classifications	CA7511066	rs_371166254	7 SubmittersRCV000480853 RCV000528940 RCV003476161 RCV004767291
NM_000070.3(CAPN3):c.813C>G (p.Asn271Lys)	SNV Germline	Chr15:42389964	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA16619927	rs_765292152	2 SubmittersRCV000481092 RCV001851202
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg)	SNV Germline	Chr15:42392678	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA391998820	rs_1085307995	3 SubmittersRCV000489651 RCV000644994 RCV003464039
NM_000070.3(CAPN3):c.2327A>G (p.Asn776Ser)	SNV Germline	Chr15:42410947	Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts	CA392002091	rs_1085307534	2 SubmittersRCV000489841 RCV004568603
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)	SNV Germline	Chr15:42394296	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA269840817	rs_988027905	6 SubmittersRCV000493163 RCV000667745 RCV001731719
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)	SNV Germline	Chr15:42387772	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter	CA391997785	rs_1555420475	2 SubmittersRCV000509589
NM_000070.3(CAPN3):c.2440-2A>G	SNV Germline	Chr15:42411745	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts	CA7511915	rs_769688710	2 SubmittersRCV000516961 RCV003631127
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)	SNV Germline	Chr15:42402920	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA7511461	rs_138172448	6 SubmittersRCV000546918 RCV000734564 RCV002483453
NM_000070.3(CAPN3):c.270C>T (p.Ser90=)	SNV Germline	Chr15:42360075	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7510885	rs_753686702	2 SubmittersRCV000729694 RCV001088598
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=)	SNV Germline	Chr15:42408228	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA7511568	rs_28364528	3 SubmittersRCV000547411 RCV000596379
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)	SNV Germline	Chr15:42394325	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA7511243	rs_767106920	8 SubmittersRCV000537811 RCV002491061 RCV002282221 RCV003476295 RCV003144340
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	SNV Germline	Chr15:42410432	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 CAPN3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7511744	rs_200379491	13 SubmittersRCV000542626 RCV000723534 RCV002476173 RCV003476296 RCV004538015
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=)	SNV Germline	Chr15:42399561	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A CAPN3-related disorder	Criteria Provided Conflicting Classifications	CA7511306	rs_372450879	4 SubmittersRCV000731053 RCV001083523 RCV004541719
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)	SNV Germline	Chr15:42388935	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA7511089	rs_369784333	9 SubmittersRCV000597389 RCV000673077 RCV002509457 RCV003471951
NM_000070.3(CAPN3):c.363C>G (p.Ile121Met)	SNV Germline	Chr15:42384536	Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA269832799	rs_901764287	3 SubmittersRCV000595690 RCV002532362 RCV005000364
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)	SNV Germline	Chr15:42392720	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA7511222	rs_766334893	6 SubmittersRCV000591954 RCV000627356 RCV003459462 RCV005000366
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)	SNV Germline	Chr15:42401723	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7511358	rs_147914333	6 SubmittersRCV000596913 RCV001085399 RCV004024708
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)	SNV Germline	Chr15:42396802	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts	CA391999114	rs_1555421523	3 SubmittersRCV000593102 RCV000757882
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter)	SNV Germline	Chr15:42396811	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts	CA391999140	rs_1555421524	2 SubmittersRCV000592765 RCV001388137
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)	SNV Germline	Chr15:42387757	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA391997748	rs_1555420462	4 SubmittersRCV000593032 RCV000726798 RCV003459465
NM_000070.3(CAPN3):c.2292C>T (p.Asp764=)	SNV Germline	Chr15:42410912	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511822	rs_187279903	2 SubmittersRCV000594942 RCV001080050
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	SNV Germline	Chr15:42402878	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4 CAPN3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7511448	rs_142004418	12 SubmittersRCV000595213 RCV000762951 RCV000726807 RCV002298702 RCV003222054 RCV004732952
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)	SNV Germline	Chr15:42409973	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 not specified Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA7511710	rs_190793093	10 SubmittersRCV000597401 RCV000644983 RCV002476300 RCV003387895 RCV003459469
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)	SNV Germline	Chr15:42410638	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA269853677	rs_147774793	3 SubmittersRCV000593493 RCV001247085 RCV003459470
NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr)	SNV Germline	Chr15:42401725	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA391999851	rs_1555422111	2 SubmittersRCV000595569 RCV001247084
NM_000070.3(CAPN3):c.2051-3C>A	SNV Germline	Chr15:42409928	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA269852680	rs_201294691	2 SubmittersRCV000591823 RCV001521187
NM_000070.3(CAPN3):c.1869G>A (p.Glu623=)	SNV Germline	Chr15:42408279	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA489885486	rs_1391429681	2 SubmittersRCV000598317 RCV001464467
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)	SNV Germline	Chr15:42401807	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A CAPN3-related disorder	Criteria Provided Conflicting Classifications	CA7511381	rs_370231427	6 SubmittersRCV000591189 RCV001085351 RCV004543365
NM_000070.3(CAPN3):c.2040C>T (p.Val680=)	SNV Germline	Chr15:42409834	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511664	rs_200583904	3 SubmittersRCV000591037 RCV001079051
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)	SNV Germline	Chr15:42394295	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA7511241	rs_774273767	5 SubmittersRCV000591299 RCV000673918 RCV003471959
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)	SNV Germline	Chr15:42401667	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts	CA391999721	rs_1274808359	9 SubmittersRCV000592929 RCV000727349 RCV003235305 RCV003471960
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)	SNV Germline	Chr15:42388996	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA16609628	rs_1555420634	7 SubmittersRCV000593803 RCV000727400 RCV005000372
NM_000070.3(CAPN3):c.2380+19C>T	SNV Germline	Chr15:42411019	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511845	rs_141234995	4 SubmittersRCV000594857 RCV001278236
NM_000070.3(CAPN3):c.1783-5T>C	SNV Germline	Chr15:42405921	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511533	rs_780680647	2 SubmittersRCV000592730 RCV001399272
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)	SNV Germline	Chr15:42401803	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 not specified	Criteria Provided Conflicting Classifications	CA391999998	rs_1555422136	5 SubmittersRCV000597737 RCV000727466 RCV003471964 RCV004701696
NM_000070.3(CAPN3):c.864A>G (p.Ala288=)	SNV Germline	Chr15:42390015	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA489878957	rs_1555420768	3 SubmittersRCV000591199 RCV001278221
NM_000070.3(CAPN3):c.468C>T (p.Ile156=)	SNV Germline	Chr15:42386255	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA7511021	rs_143942248	3 SubmittersRCV001395030 RCV001698499
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)	SNV Germline	Chr15:42387806	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511053	rs_147808529	6 SubmittersRCV000605183 RCV000730156 RCV001079344
NM_000070.3(CAPN3):c.1800+12G>A	SNV Germline	Chr15:42405955	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511541	rs_542523863	4 SubmittersRCV000609014 RCV001116288
NM_000070.3(CAPN3):c.945+15G>A	SNV Germline	Chr15:42390111	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511177	rs_567256305	3 SubmittersRCV000602800 RCV001119212
NM_000070.3(CAPN3):c.1115+2T>A	SNV Germline	Chr15:42394343	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter	CA391999103	rs_1057524468	1 SubmittersRCV000644977
NM_000070.3(CAPN3):c.1524+1G>A	SNV Germline	Chr15:42401811	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Single Submitter	CA392000015	rs_1275289254	2 SubmittersRCV000644980 RCV003459540
NM_000070.3(CAPN3):c.1227A>C (p.Thr409=)	SNV Germline	Chr15:42399525	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications	CA7511295	rs_111806046	2 SubmittersRCV000732854 RCV001088795
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)	SNV Germline	Chr15:42360096	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_758058910	2 SubmittersRCV000660877 RCV004800511
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)	SNV Germline	Chr15:42410645	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_768090444	1 SubmittersRCV000660878
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)	SNV Germline	Chr15:42387763	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_1555420468	3 SubmittersRCV000673164
NM_000070.3(CAPN3):c.632+4A>G	SNV Germline	Chr15:42387890	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_1555420507	3 SubmittersRCV000665369 RCV003459570
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)	SNV Germline	Chr15:42388959	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_1345121557	5 SubmittersRCV000672914 RCV001332162 RCV001784277 RCV002499184
NM_000070.3(CAPN3):c.1030-1G>A	SNV Germline	Chr15:42394255	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_1555421263	3 SubmittersRCV000672816
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)	SNV Germline	Chr15:42410633	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_750083132	6 SubmittersRCV000670735 RCV001784265 RCV003330890 RCV003459619
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)	SNV Germline	Chr15:42389999	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_1555420765	4 SubmittersRCV000671506 RCV001731876 RCV003459626
NM_000070.3(CAPN3):c.1524+1G>T	SNV Germline	Chr15:42401811	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_1275289254	2 SubmittersRCV000669957
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser)	SNV Germline	Chr15:42359954	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications		rs_1262587749	2 SubmittersRCV000670032 RCV004586863
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)	SNV Germline	Chr15:42392678	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Single Submitter		rs_1085307995	3 SubmittersRCV000669275 RCV003459611
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly)	SNV Unknown	Chr15:42394287	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_1555421271	2 SubmittersRCV000673597 RCV004568557
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter)	SNV Unknown	Chr15:42399532	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1555421847	1 SubmittersRCV000673275
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)	SNV Germline	Chr15:42399640	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_776043976	3 SubmittersRCV000669159 RCV003472111
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter)	SNV Unknown	Chr15:42409801	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1555423015	1 SubmittersRCV000672316
NM_000070.3(CAPN3):c.2050+1G>A	SNV Germline	Chr15:42409845	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_768374736	6 SubmittersRCV000669271 RCV001784257 RCV003459610 RCV004526742
NM_000070.3(CAPN3):c.2051-1G>C	SNV Unknown	Chr15:42409930	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_886042108	1 SubmittersRCV000674040
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr)	SNV Unknown	Chr15:42359807	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1555417257	1 SubmittersRCV000672743
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)	SNV Germline	Chr15:42389050	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_1555420652	5 SubmittersRCV000671167 RCV001553721 RCV003140069
NM_000070.3(CAPN3):c.801+1G>A	SNV Germline	Chr15:42389097	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_1459288402	6 SubmittersRCV000668182 RCV001509478 RCV003459593
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)	SNV Germline	Chr15:42394305	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555421280	3 SubmittersRCV000665357 RCV000733826
NM_000070.3(CAPN3):c.1115+1G>A	SNV Unknown	Chr15:42394342	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1555421293	1 SubmittersRCV000674148
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys)	SNV Germline	Chr15:42396840	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications		rs_919442493	3 SubmittersRCV000673176 RCV004568551
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)	SNV Germline	Chr15:42399500	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications		rs_371784007	5 SubmittersRCV000668931 RCV000728828 RCV002507166
NM_000070.3(CAPN3):c.1355-6G>T	SNV Germline	Chr15:42401635	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_28364485	2 SubmittersRCV000674618
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)	SNV Germline	Chr15:42402914	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_767739787	6 SubmittersRCV000668383 RCV001584540 RCV001814213 RCV003459596
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter)	SNV Unknown	Chr15:42408268	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1555422839	1 SubmittersRCV000674022
NM_000070.3(CAPN3):c.1914+2T>C	SNV Germline	Chr15:42408326	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_1555422856	2 SubmittersRCV000667932
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter)	SNV Germline	Chr15:42409336	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_777636094	2 SubmittersRCV000672598 RCV001784274
NM_000070.3(CAPN3):c.2115+1G>A	SNV Germline	Chr15:42409996	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_766917640	5 SubmittersRCV000671447 RCV003472137 RCV004586865
NM_000070.3(CAPN3):c.2184+2T>C	SNV Unknown	Chr15:42410498	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1555423146	1 SubmittersRCV000674774
NM_000070.3(CAPN3):c.2380+1G>T	SNV Germline	Chr15:42411001	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_1555423222	3 SubmittersRCV000671146 RCV003472135
NM_000070.3(CAPN3):c.897C>A (p.Leu299=)	SNV Germline	Chr15:42390048	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_370313391	4 SubmittersRCV000728177 RCV001080817
NM_000070.3(CAPN3):c.1993-5C>T	SNV Germline	Chr15:42409782	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_1566984719	2 SubmittersRCV000728471 RCV001488963
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)	SNV Germline	Chr15:42402907	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A CAPN3-related disorder	Criteria Provided Conflicting Classifications		rs_766405190	4 SubmittersRCV000730715 RCV001278229 RCV004535838
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)	SNV Germline	Chr15:42408265	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_1566983844	3 SubmittersRCV000730818 RCV001213723 RCV003472265
NM_000070.3(CAPN3):c.492C>T (p.His164=)	SNV Germline	Chr15:42386279	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_746311570	2 SubmittersRCV000730928 RCV001401882
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)	SNV Germline	Chr15:42399631	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_773827877	3 SubmittersRCV000732092 RCV001855673 RCV004569417
NM_000070.3(CAPN3):c.2061G>A (p.Leu687=)	SNV Germline	Chr15:42409941	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_1566984937	2 SubmittersRCV000732610 RCV003631157
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=)	SNV Germline	Chr15:42409335	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_79440238	4 SubmittersRCV000732909 RCV001080460
NM_000070.3(CAPN3):c.1290A>G (p.Thr430=)	SNV Germline	Chr15:42399588	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_757482856	2 SubmittersRCV000733402 RCV001505879
NM_000070.3(CAPN3):c.783C>T (p.Leu261=)	SNV Germline	Chr15:42389078	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_1566975668	2 SubmittersRCV000733571 RCV002535338
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)	SNV Germline	Chr15:42392660	Pathogenic	Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel		rs_750443041	5 SubmittersRCV000760360 RCV003461018 RCV001051737 RCV004997267
NM_000070.3(CAPN3):c.2380+2T>G	SNV Germline	Chr15:42411002	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_761935462	6 SubmittersRCV000779157 RCV001814232 RCV003229862
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)	SNV Germline	Chr15:42399625	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided CAPN3-related disorder	Criteria Provided Conflicting Classifications		rs_1595834751	4 SubmittersRCV000820146 RCV003145204 RCV004538126
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp)	SNV Germline	Chr15:42401734	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_781723572	1 SubmittersRCV000819470
NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro)	SNV Germline	Chr15:42410926	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications		rs_80338802	2 SubmittersRCV000808148 RCV003461179
NM_000070.3(CAPN3):c.946-2A>G	SNV Germline	Chr15:42392637	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Abnormality of the musculature Muscular dystrophy, limb-girdle, autosomal dominant 4 CAPN3-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1595826673	5 SubmittersRCV000821687 RCV001091250 RCV001814242 RCV003461274 RCV004540120
NM_000070.3(CAPN3):c.2440-1G>C	SNV Germline	Chr15:42411746	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_886044052	1 SubmittersRCV000815849
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)	SNV Germline	Chr15:42394332	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1595828703	1 SubmittersRCV001004982
NM_000070.3(CAPN3):c.1193+6T>A	SNV Germline	Chr15:42396883	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_1555421532	5 SubmittersRCV001004974 RCV001310746 RCV003235444
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)	SNV Germline	Chr15:42408307	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Single Submitter		rs_1595844413	2 SubmittersRCV001004976 RCV003461311
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)	SNV Germline	Chr15:42410615	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_1595847257	2 SubmittersRCV001004959
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)	SNV Germline	Chr15:42386184	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A not specified	Criteria Provided Conflicting Classifications		rs_946415346	4 SubmittersRCV001068857 RCV003479277
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)	SNV Germline	Chr15:42387773	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_2053442769	2 SubmittersRCV001046209
NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly)	SNV Germline	Chr15:42387862	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_763719290	1 SubmittersRCV001045585
NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe)	SNV Germline	Chr15:42402124	Likely pathogenic	Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1409503203	2 SubmittersRCV003462616 RCV001070692
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)	SNV Germline	Chr15:42410474	Pathogenic/Likely pathogenic	Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_774048414	3 SubmittersRCV003462561 RCV001053864
NM_000070.3(CAPN3):c.1002C>T (p.His334=)	SNV Germline	Chr15:42392695	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_374833797	3 SubmittersRCV001119213
NM_000070.3(CAPN3):c.1227A>T (p.Thr409=)	SNV Germline	Chr15:42399525	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_111806046	2 SubmittersRCV001121212
NM_000070.3(CAPN3):c.1902G>A (p.Lys634=)	SNV Germline	Chr15:42408312	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_2054086848	2 SubmittersRCV001116289
NM_000070.3(CAPN3):c.2051-8C>T	SNV Germline	Chr15:42409923	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_754375124	2 SubmittersRCV001117728
NM_000070.3(CAPN3):c.1782+1072G>C	SNV Germline	Chr15:42404849	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Single Submitter		rs_2053974373	2 SubmittersRCV001217778 RCV003462737
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)	SNV Germline	Chr15:42402953	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications		rs_747819910	5 SubmittersRCV001228061 RCV002265011 RCV003473793
NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe)	SNV Germline	Chr15:42399500	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_371784007	2 SubmittersRCV001239389 RCV003462811
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)	SNV Germline	Chr15:42402818	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_2053910936	3 SubmittersRCV001246101 RCV003462825
NM_000070.3(CAPN3):c.1525-1G>T	SNV Germline	Chr15:42402123	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2053889963	1 SubmittersRCV001232871
NM_000070.3(CAPN3):c.1194-2A>G	SNV Unknown	Chr15:42399490	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2053804014	1 SubmittersRCV001249767
NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter)	SNV Unknown	Chr15:42384516	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2053335168	1 SubmittersRCV001263854
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)	SNV Germline	Chr15:42389042	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Multiple Submitters No Conflicts		rs_757448865	4 SubmittersRCV001263855 RCV002499453 RCV003462840
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)	SNV Germline	Chr15:42389067	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_2053484604	2 SubmittersRCV001263856
NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter)	SNV Unknown	Chr15:42392666	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2053589887	1 SubmittersRCV001263857
NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter)	SNV Unknown	Chr15:42409963	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2054157050	1 SubmittersRCV001263858
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)	SNV Germline	Chr15:42410475	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_2054179951	2 SubmittersRCV001264018
NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter)	SNV Unknown	Chr15:42411000	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2054206966	1 SubmittersRCV001264019
NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala)	SNV Germline	Chr15:42359852	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_775742866	4 SubmittersRCV001277693 RCV003145505 RCV004967938
NM_000070.3(CAPN3):c.643T>C (p.Ser215Pro)	SNV Germline	Chr15:42388938	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2053478068	1 SubmittersRCV001290339
NM_000070.3(CAPN3):c.638A>G (p.His213Arg)	SNV Germline	Chr15:42388933	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A not specified Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications		rs_768447053	4 SubmittersRCV001306628 RCV002241861 RCV003462875
NM_000070.3(CAPN3):c.379+3A>T	SNV Germline	Chr15:42384555	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1164215001	1 SubmittersRCV001362667
NM_000070.3(CAPN3):c.945+1G>T	SNV Germline	Chr15:42390097	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1375420170	1 SubmittersRCV001379391
NM_000070.3(CAPN3):c.2185-16A>G	SNV Germline	Chr15:42410572	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1339644598	2 SubmittersRCV001378423 RCV001587385
NM_000070.3(CAPN3):c.2380+1G>A	SNV Germline	Chr15:42411001	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1555423222	1 SubmittersRCV001378804
NM_000070.3(CAPN3):c.286C>T (p.Gln96Ter)	SNV Germline	Chr15:42360091	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1476836379	1 SubmittersRCV001389563
NM_000070.3(CAPN3):c.389G>A (p.Trp130Ter)	SNV Germline	Chr15:42386176	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2141160443	1 SubmittersRCV001380498
NM_000070.3(CAPN3):c.1999G>T (p.Glu667Ter)	SNV Germline	Chr15:42409793	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2141221307	1 SubmittersRCV001384539
NM_000070.3(CAPN3):c.1062G>A (p.Val354=)	SNV Germline	Chr15:42394288	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications		rs_776793553	2 SubmittersRCV001470171 RCV001559254
NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)	SNV Germline	Chr15:42401681	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications		rs_760344791	2 SubmittersRCV001491110 RCV001559255
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro)	SNV Germline	Chr15:42389088	Conflicting classifications of pathogenicity	Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_2053485355	3 SubmittersRCV001814530 RCV003339671
NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile)	SNV Germline	Chr15:42401788	Conflicting classifications of pathogenicity	Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications		rs_751104396	3 SubmittersRCV001814382 RCV001873811
NM_000070.3(CAPN3):c.2217C>G (p.Ser739=)	SNV Germline	Chr15:42410620	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_148851444	1 SubmittersRCV001554269
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg)	SNV Germline	Chr15:42401772	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications		rs_761637940	3 SubmittersRCV001562120 RCV002570733 RCV003474008
NM_000070.3(CAPN3):c.1363T>C (p.Trp455Arg)	SNV Germline	Chr15:42401649	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2141199370	1 SubmittersRCV001730018
NM_000070.3(CAPN3):c.379+3A>G	SNV Germline	Chr15:42384555	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Conflicting Classifications		rs_1164215001	4 SubmittersRCV001774552 RCV002512158 RCV004571079
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)	SNV Germline	Chr15:42384520	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2053335268	2 SubmittersRCV001779555
NM_000070.3(CAPN3):c.358G>A (p.Asp120Asn)	SNV Germline	Chr15:42384531	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications		rs_765935351	2 SubmittersRCV004577109 RCV004801467
NM_000070.3(CAPN3):c.743T>G (p.Met248Arg)	SNV Germline	Chr15:42389038	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_777829958	3 SubmittersRCV001784072 RCV002034610 RCV003487780
NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly)	SNV Germline	Chr15:42384525	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1566973583	1 SubmittersRCV002250772
NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys)	SNV Germline	Chr15:42410929	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2141225644	1 SubmittersRCV001805741
NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val)	SNV Germline	Chr15:42410932	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_752397587	1 SubmittersRCV001808032
NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter)	SNV Germline	Chr15:42401742	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2141199686	1 SubmittersRCV001992920
NM_000070.3(CAPN3):c.754A>G (p.Met252Val)	SNV Germline	Chr15:42389049	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2053483911	1 SubmittersRCV002048143
NM_000070.3(CAPN3):c.1084C>T (p.Gln362Ter)	SNV Germline	Chr15:42394310	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_965032792	2 SubmittersRCV001941728 RCV004720988
NM_000070.3(CAPN3):c.802-2A>G	SNV Germline	Chr15:42389951	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2141170197	1 SubmittersRCV001964090
NM_000070.3(CAPN3):c.661G>A (p.Gly221Ser)	SNV Germline	Chr15:42388956	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1432632972	1 SubmittersRCV001989087
NM_000070.3(CAPN3):c.1800+2T>C	SNV Germline	Chr15:42405945	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_748194118	1 SubmittersRCV001893662
NM_000070.3(CAPN3):c.1A>G (p.Met1Val)	SNV Germline	Chr15:42359806	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_1566965796	1 SubmittersRCV002002571
NM_000070.3(CAPN3):c.1782+2T>C	SNV Germline	Chr15:42403779	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_754930571	1 SubmittersRCV002037538
NM_000070.3(CAPN3):c.641G>A (p.Gly214Asp)	SNV Germline	Chr15:42388936	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_761430243	1 SubmittersRCV001913001
NM_000070.3(CAPN3):c.2050+1G>C	SNV Germline	Chr15:42409845	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_768374736	1 SubmittersRCV001904132
NM_000070.3(CAPN3):c.1029+1G>A	SNV Germline	Chr15:42392723	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2141177054	1 SubmittersRCV001970493
NM_000070.3(CAPN3):c.648C>G (p.Tyr216Ter)	SNV Germline	Chr15:42388943	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_138846390	1 SubmittersRCV001888198
NM_000070.3(CAPN3):c.498+1G>A	SNV Germline	Chr15:42386286	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter		rs_2141160881	1 SubmittersRCV001949581
NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter)	SNV Germline	Chr15:42390049	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2141170517	2 SubmittersRCV001956513 RCV003490976
NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)	SNV Unknown	Chr15:42387797	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV002306568
NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)	SNV Unknown	Chr15:42410639	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV002309801
NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)	SNV Unknown	Chr15:42387809	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV002307037
NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)	SNV Unknown	Chr15:42389055	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV002307064
NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)	SNV Unknown	Chr15:42410901	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV002307272
NM_000070.3(CAPN3):c.1354+1G>A	SNV Germline	Chr15:42399653	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Single Submitter			2 SubmittersRCV003058459 RCV003459731
NM_000070.3(CAPN3):c.1193+1G>A	SNV Germline	Chr15:42396878	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003061609
NM_000070.3(CAPN3):c.1536+1G>T	SNV Germline	Chr15:42402136	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV002628212
NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)	SNV Germline	Chr15:42359939	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications			2 SubmittersRCV003143525 RCV002659677
NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)	SNV Germline	Chr15:42402938	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Conflicting Classifications			2 SubmittersRCV003112307
NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)	SNV Germline	Chr15:42359808	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV002881476
NM_000070.3(CAPN3):c.801+2T>G	SNV Germline	Chr15:42389098	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV002852310
NM_000070.3(CAPN3):c.945+1G>A	SNV Germline	Chr15:42390097	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV002876265
NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)	SNV Germline	Chr15:42408313	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Criteria Provided Single Submitter			2 SubmittersRCV003016212 RCV003459697
NM_000070.3(CAPN3):c.379+1G>A	SNV Germline	Chr15:42384553	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003005848
NM_000070.3(CAPN3):c.380-2A>G	SNV Germline	Chr15:42386165	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003019323
NM_000070.3(CAPN3):c.380-1G>A	SNV Germline	Chr15:42386166	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003031151
NM_000070.3(CAPN3):c.2116-1G>C	SNV Germline	Chr15:42410427	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003042035
NM_000070.3(CAPN3):c.802-1G>A	SNV Germline	Chr15:42389952	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003014953
NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter)	SNV Germline	Chr15:42402809	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003040927
NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)	SNV Unknown	Chr15:42384552	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003153101
NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)	SNV Germline	Chr15:42396812	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	No Assertion Criteria Provided			1 SubmittersRCV003326700
NM_000070.3(CAPN3):c.2439+1G>T	SNV Germline	Chr15:42411346	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003314261
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)	SNV Germline	Chr15:42399607	Pathogenic/Likely pathogenic	Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003474475 RCV003517504 RCV004587503
NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)	SNV Germline	Chr15:42396846	Pathogenic	Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			2 SubmittersRCV003460315 RCV003631324
NM_000070.3(CAPN3):c.1525-2A>G	SNV Germline	Chr15:42402122	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003518074
NM_000070.3(CAPN3):c.1524+1G>C	SNV Germline	Chr15:42401811	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003518615
NM_000070.3(CAPN3):c.413T>C (p.Leu138Pro)	SNV Germline	Chr15:42386200	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003518798
NM_000070.3(CAPN3):c.1742C>G (p.Ser581Cys)	SNV Germline	Chr15:42402999	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003518800
NM_000070.3(CAPN3):c.1992+1G>A	SNV Germline	Chr15:42409381	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003518802
NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)	SNV Germline	Chr15:42409324	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003517594
NM_000070.3(CAPN3):c.633-1G>A	SNV Germline	Chr15:42388927	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003631642
NM_000070.3(CAPN3):c.1008C>G (p.Tyr336Ter)	SNV Germline	Chr15:42392701	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003632042
NM_000070.3(CAPN3):c.1536+3A>G	SNV Germline	Chr15:42402138	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003632777
NM_000070.3(CAPN3):c.956C>G (p.Pro319Arg)	SNV Germline	Chr15:42392649	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003632843
NM_000070.3(CAPN3):c.1978C>T (p.Gln660Ter)	SNV Germline	Chr15:42409366	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003842970
NM_000070.3(CAPN3):c.664G>C (p.Gly222Arg)	SNV Germline	Chr15:42388959	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003858778
NM_000070.3(CAPN3):c.1375C>T (p.Gln459Ter)	SNV Germline	Chr15:42401661	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003865114
NM_000070.3(CAPN3):c.1536G>C (p.Glu512Asp)	SNV Germline	Chr15:42402135	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV004765113
NM_000070.3(CAPN3):c.377T>C (p.Leu126Pro)	SNV Germline	Chr15:42384550	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV004780044
NM_000070.3(CAPN3):c.1745+1G>A	SNV Germline	Chr15:42403003	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter			1 SubmittersRCV004796561

NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)

SNV
Germline

Chr15:42410926

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA127306

rs_80338802

12 SubmittersRCV000020096 RCV000711017 RCV001814000 RCV003473106

NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)

SNV
Germline

Chr15:42402972

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341470

rs_121434544

12 SubmittersRCV000019180 RCV000726518 RCV001198825 RCV003323362

NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)

SNV
Germline

Chr15:42384501

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA341471

rs_121434545

10 SubmittersRCV000019181 RCV001813749 RCV004998102

NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)

SNV
Germline

Chr15:42360062

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA341473

rs_121434546

2 SubmittersRCV000019182

NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)

SNV
Germline

Chr15:42392649

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA341474

rs_121434547

7 SubmittersRCV000417420 RCV000019183 RCV003473107

NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)

SNV
Germline

Chr15:42394306

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA341475

rs_267606703

1 SubmittersRCV000019186

NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)

SNV
Germline

Chr15:42401755

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4

Reviewed By Expert Panel

CA341479

rs_121434548

16 SubmittersRCV000019189 RCV000724646 RCV002222356 RCV002490391 RCV003473110

NM_000070.3(CAPN3):c.946-1G>A

SNV
Germline

Chr15:42392638

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA341532

rs_80338801

2 SubmittersRCV000020097

NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)

SNV
Germline

Chr15:42401721

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220341

rs_201736037

11 SubmittersRCV000280277 RCV000790779 RCV002271401 RCV002498373 RCV003474672 RCV004732653

NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)

SNV
Germline

Chr15:42402879

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA220342

rs_398123143

9 SubmittersRCV000338313 RCV000790834 RCV003474673

NM_000070.3(CAPN3):c.1746-20C>G

SNV
Germline

Chr15:42403721

Pathogenic

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
8 conditions
Autosomal recessive limb-girdle muscular dystrophy
See cases

Reviewed By Expert Panel

CA220343

rs_201892814

13 SubmittersRCV000078089 RCV000559180 RCV000585323 RCV000626578 RCV003225929 RCV004797780

NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)

SNV
Germline

Chr15:42411299

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA220348

rs_149095128

13 SubmittersRCV000078095 RCV000201145 RCV001804832 RCV002504988 RCV003474674

NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)

SNV
Germline

Chr15:42359867

Conflicting classifications of pathogenicity

not specified
Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA145724

rs_28364364

8 SubmittersRCV000078101 RCV000314855 RCV000362522 RCV000711022

NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)

SNV
Germline

Chr15:42408240

Conflicting classifications of pathogenicity

Condition: not provided
Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA230931

rs_202019404

6 SubmittersRCV000116540 RCV000298364 RCV000355668 RCV000418961 RCV004529960

NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)

SNV
Germline

Chr15:42410646

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA345536

rs_587780290

15 SubmittersRCV000116542 RCV000489478 RCV001814062 RCV003474720

NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)

SNV
Germline

Chr15:42402956

Pathogenic

Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA233622

rs_727503839

8 SubmittersRCV003474805 RCV004532716 RCV000174442 RCV000790649 RCV003114302

NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)

SNV
Germline

Chr15:42401754

Pathogenic

Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Reviewed By Expert Panel

CA233621

rs_141656719

21 SubmittersRCV000152924 RCV000762950 RCV000173975 RCV003987377 RCV001332159 RCV001813761

NM_000070.3(CAPN3):c.2433T>C (p.Val811=)

SNV
Germline

Chr15:42411339

Conflicting classifications of pathogenicity

not specified
Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179842

rs_28364543

7 SubmittersRCV000152927 RCV000281259 RCV000338574 RCV000711018

NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)

SNV
Germline

Chr15:42359950

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346852

rs_794726871

9 SubmittersRCV000173055 RCV000710093 RCV003114322 RCV003462272

NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)

SNV
Germline

Chr15:42401763

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA239448

rs_557164942

7 SubmittersRCV000173976 RCV000201107 RCV003462275

NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)

SNV
Germline

Chr15:42410446

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA241878

rs_794727318

4 SubmittersRCV000597464 RCV000798205 RCV003462280

NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)

SNV
Germline

Chr15:42410638

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242015

rs_147774793

9 SubmittersRCV000246649 RCV000723489 RCV001085030 RCV003242999

NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)

SNV
Germline

Chr15:42410958

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346865

rs_778768583

12 SubmittersRCV000176251 RCV000386470 RCV003474930

NM_000070.3(CAPN3):c.2409A>T (p.Gly803=)

SNV
Germline

Chr15:42411315

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA242275

rs_143139259

2 SubmittersRCV000176354 RCV002517696

NM_000070.3(CAPN3):c.525C>T (p.Asp175=)

SNV
Germline

Chr15:42387779

Conflicting classifications of pathogenicity

not specified
Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA245057

rs_144383442

8 SubmittersRCV000178035 RCV000282391 RCV000374364 RCV000724809 RCV004732747

NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)

SNV
Germline

Chr15:42394302

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA247490

rs_794727895

4 SubmittersRCV000180098 RCV001332158 RCV003474937

NM_000070.3(CAPN3):c.1557C>T (p.His519=)

SNV
Germline

Chr15:42402814

Conflicting classifications of pathogenicity

not specified
Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA205369

rs_368385372

6 SubmittersRCV000192510 RCV000296481 RCV000325766 RCV000726184

NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter)

SNV
Germline

Chr15:42384492

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA358285

rs_1801505

3 SubmittersRCV000370685 RCV001052904

NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)

SNV
Germline

Chr15:42399617

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347525

rs_376107921

12 SubmittersRCV000201096 RCV000520664 RCV000762949 RCV001814105 RCV003474968 RCV004998417

NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)

SNV
Germline

Chr15:42359938

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347575

rs_774048743

9 SubmittersRCV000201177 RCV000762947 RCV001781585 RCV003235123 RCV003462346

NM_000070.3(CAPN3):c.146G>A (p.Arg49His)

SNV
Germline

Chr15:42359951

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Reviewed By Expert Panel

CA347493

rs_863224958

10 SubmittersRCV000201045 RCV001781586 RCV001814106 RCV003330572 RCV003474971

NM_000070.3(CAPN3):c.499-1G>A

SNV
Germline

Chr15:42387752

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347510

rs_863224964

6 SubmittersRCV000201080 RCV004808628 RCV003462349

NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)

SNV
Germline

Chr15:42387820

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
not specified
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA347491

rs_758795961

6 SubmittersRCV000201041 RCV000729232 RCV003330573 RCV003462350

NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)

SNV
Germline

Chr15:42396801

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA347568

rs_775453643

18 SubmittersRCV000201159 RCV000710091 RCV001814104 RCV003462345

NM_000070.3(CAPN3):c.1194-9A>G

SNV
Germline

Chr15:42399483

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347487

rs_374665929

10 SubmittersRCV000201038 RCV000516175 RCV003474967 RCV004796096 RCV003225933

NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)

SNV
Germline

Chr15:42399641

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347482

rs_863224956

11 SubmittersRCV000201031 RCV000710092 RCV003387802 RCV003474969

NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)

SNV
Germline

Chr15:42401751

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347587

rs_863224957

8 SubmittersRCV000201199 RCV000516176 RCV002492925 RCV003474970

NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)

SNV
Germline

Chr15:42402971

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347588

rs_863224959

10 SubmittersRCV000201202 RCV000725109 RCV001814107 RCV002500625 RCV003474972

NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)

SNV
Germline

Chr15:42409327

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347555

rs_863224960

3 SubmittersRCV000201136 RCV001814108 RCV003474973

NM_000070.3(CAPN3):c.1992+1G>T

SNV
Germline

Chr15:42409381

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347506

rs_863224961

9 SubmittersRCV000201069 RCV000725235 RCV001814109 RCV003474974

NM_000070.3(CAPN3):c.2381-2A>G

SNV
Germline

Chr15:42411285

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347520

rs_863224962

4 SubmittersRCV000201091 RCV003462347

NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)

SNV
Germline

Chr15:42386226

Pathogenic

Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10602399

rs_878854364

4 SubmittersRCV000337512 RCV000762948 RCV001854838 RCV003475835

NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)

SNV
Germline

Chr15:42399600

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511312

rs_751429914

6 SubmittersRCV000253878 RCV000669405 RCV000892233

NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)

SNV
Germline

Chr15:42402800

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511431

rs_150226817

9 SubmittersRCV000245397 RCV000692602 RCV000724737

NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)

SNV
Germline

Chr15:42402925

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511463

rs_199884116

7 SubmittersRCV000250156 RCV000725636 RCV001080761

NM_000070.3(CAPN3):c.2264-11C>T

SNV
Germline

Chr15:42410873

Conflicting classifications of pathogenicity

not specified
Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511811

rs_28364537

4 SubmittersRCV000242765 RCV000333633 RCV000362587 RCV001697594

NM_000070.3(CAPN3):c.2381-12A>G

SNV
Germline

Chr15:42411275

Conflicting classifications of pathogenicity

not specified
Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511860

rs_73402734

4 SubmittersRCV000244102 RCV000321788 RCV000379129

NM_000070.3(CAPN3):c.1115+5G>C

SNV
Germline

Chr15:42394346

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10588583

rs_886039597

2 SubmittersRCV000255970 RCV000822784

NM_000070.3(CAPN3):c.802-9G>A

SNV
Germline

Chr15:42389944

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511134

rs_761211705

10 SubmittersRCV000383471 RCV000400325 RCV002479996 RCV003475885

NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)

SNV
Germline

Chr15:42399640

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511324

rs_776043976

11 SubmittersRCV000291465 RCV000274198 RCV003463735

NM_000070.3(CAPN3):c.2185-2A>G

SNV
Germline

Chr15:42410586

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA501130

rs_886041335

6 SubmittersRCV000343664 RCV000593825 RCV003463736

NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)

SNV
Germline

Chr15:42409951

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511704

rs_140425651

4 SubmittersRCV000375518 RCV000644989 RCV003144189

NM_000070.3(CAPN3):c.2440-3C>G

SNV
Germline

Chr15:42411744

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511914

rs_761757153

3 SubmittersRCV000321946 RCV001062957

NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)

SNV
Germline

Chr15:42410660

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
CAPN3-related disorder
not specified
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511784

rs_146923842

16 SubmittersRCV000410341 RCV000723527 RCV001824134 RCV002265720 RCV002288958

NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)

SNV
Germline

Chr15:42399525

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511296

rs_111806046

4 SubmittersRCV000396394 RCV001087973 RCV004542969

NM_000070.3(CAPN3):c.2051-1G>T

SNV
Germline

Chr15:42409930

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10603816

rs_886042108

9 SubmittersRCV000391266 RCV000724152 RCV003475889

NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)

SNV
Germline

Chr15:42394289

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511239

rs_749099493

9 SubmittersRCV000389096 RCV000711013 RCV003463741

NM_000070.3(CAPN3):c.930T>C (p.Asp310=)

SNV
Germline

Chr15:42390081

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511168

rs_150356488

5 SubmittersRCV000275858 RCV000532053 RCV001697700 RCV004542981

NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)

SNV
Germline

Chr15:42399648

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511325

rs_144944366

5 SubmittersRCV000272201 RCV000645006 RCV001697735 RCV004542982

NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)

SNV
Germline

Chr15:42399548

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511300

rs_200646556

14 SubmittersRCV000340100 RCV000724905 RCV001814141 RCV002502096 RCV002509343 RCV003475890

NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser)

SNV
Germline

Chr15:42387754

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10604052

rs_886042296

3 SubmittersRCV000275677 RCV003765590

NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)

SNV
Germline

Chr15:42399601

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7511313

rs_149914792

14 SubmittersRCV000440492 RCV000820741 RCV001775111 RCV003475891 RCV002480004 RCV004689699

NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)

SNV
Germline

Chr15:42410925

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
See cases
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10604167

rs_868791726

10 SubmittersRCV000295812 RCV000711016 RCV001420333 RCV003323488 RCV003475893

NM_000070.3(CAPN3):c.1993-1G>A

SNV
Germline

Chr15:42409786

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511659

rs_369552114

8 SubmittersRCV000382987 RCV000420333 RCV000763350 RCV003475894

NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)

SNV
Germline

Chr15:42401791

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Inborn genetic diseases
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511375

rs_148044781

13 SubmittersRCV000414202 RCV000644997 RCV002222470 RCV003475895 RCV004017582 RCV004732818

NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter)

SNV
Germline

Chr15:42402868

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10604243

rs_886042439

6 SubmittersRCV000349807 RCV001729504 RCV001814142 RCV004567826

NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg)

SNV
Germline

Chr15:42388995

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604244

rs_886042440

4 SubmittersRCV000359000 RCV000819248 RCV004999206

NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)

SNV
Germline

Chr15:42390016

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511150

rs_528417986

9 SubmittersRCV000340129 RCV000490012 RCV001814143 RCV002271482 RCV003475896

NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)

SNV
Germline

Chr15:42410908

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511820

rs_764459544

6 SubmittersRCV000301610 RCV000725121 RCV003226273 RCV003463744

NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)

SNV
Germline

Chr15:42360050

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA10604293

rs_886042478

10 SubmittersRCV000311426 RCV000489536 RCV003475897 RCV004797802

NM_000070.3(CAPN3):c.2310C>T (p.Tyr770=)

SNV
Germline

Chr15:42410930

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511826

rs_780810538

2 SubmittersRCV000365423 RCV001089145

NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)

SNV
Germline

Chr15:42399555

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy
CAPN3-related disorder

Reviewed By Expert Panel

CA7511304

rs_139836397

7 SubmittersRCV000342508 RCV000813198 RCV003475898 RCV004999209 RCV004732819

NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)

SNV
Germline

Chr15:42409985

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10604398

rs_886042557

5 SubmittersRCV000311834 RCV000725206 RCV003475900

NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)

SNV
Germline

Chr15:42384511

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7510921

rs_747026964

11 SubmittersRCV000440617 RCV000675143 RCV002282100 RCV003475901 RCV004732820

NM_000070.3(CAPN3):c.1566G>A (p.Lys522=)

SNV
Germline

Chr15:42402823

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511438

rs_201116482

2 SubmittersRCV000282116 RCV002059125

NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)

SNV
Germline

Chr15:42410645

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA7511779

rs_768090444

9 SubmittersRCV000279441 RCV000725244 RCV003475902 RCV004999212

NM_000070.3(CAPN3):c.1746-7C>G

SNV
Germline

Chr15:42403734

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511492

rs_199978708

5 SubmittersRCV000382613 RCV001084708

NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)

SNV
Germline

Chr15:42399549

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511302

rs_151090625

4 SubmittersRCV000286857 RCV001121213

NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)

SNV
Germline

Chr15:42399616

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511318

rs_777323132

8 SubmittersRCV000269452 RCV000725372 RCV001814145 RCV003475903

NM_000070.3(CAPN3):c.1020G>T (p.Gly340=)

SNV
Germline

Chr15:42392713

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511220

rs_372401631

3 SubmittersRCV000343857 RCV001087287

NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)

SNV
Germline

Chr15:42402893

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature

Criteria Provided
Conflicting Classifications

CA7511450

rs_372438001

6 SubmittersRCV000591859 RCV000725457 RCV001814146

NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)

SNV
Germline

Chr15:42387787

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10604803

rs_794727615

2 SubmittersRCV000354989 RCV001004990

NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)

SNV
Germline

Chr15:42399631

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511320

rs_773827877

11 SubmittersRCV000405059 RCV000725472 RCV002282104 RCV003475905

NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)

SNV
Germline

Chr15:42399554

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604828

rs_886042895

5 SubmittersRCV000596878 RCV000778428 RCV003463755 RCV004999218

NM_000070.3(CAPN3):c.2109C>T (p.Leu703=)

SNV
Germline

Chr15:42409989

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511713

rs_371577901

3 SubmittersRCV000356636 RCV001079737

NM_000070.3(CAPN3):c.1332C>T (p.Ala444=)

SNV
Germline

Chr15:42399630

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10604936

rs_886042968

2 SubmittersRCV000322207 RCV001434526

NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)

SNV
Germline

Chr15:42388928

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604967

rs_779701414

6 SubmittersRCV000339333 RCV000667247 RCV004999223

NM_000070.3(CAPN3):c.1115+8A>G

SNV
Germline

Chr15:42394349

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511245

rs_760196248

2 SubmittersRCV000283230 RCV001078559

NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)

SNV
Germline

Chr15:42410460

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10605085

rs_770894443

7 SubmittersRCV000412799 RCV000644995 RCV003475907

NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)

SNV
Germline

Chr15:42399607

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511316

rs_777483913

6 SubmittersRCV000345099 RCV000725670 RCV003463759

NM_000070.3(CAPN3):c.1584C>T (p.Asn528=)

SNV
Germline

Chr15:42402841

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511440

rs_530529988

3 SubmittersRCV000301661 RCV001078683

NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)

SNV
Germline

Chr15:42409972

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511709

rs_764370512

8 SubmittersRCV000327815 RCV000675154 RCV003463760

NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)

SNV
Germline

Chr15:42392694

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7511211

rs_749863676

9 SubmittersRCV000544623 RCV000711012 RCV002469098

NM_000070.3(CAPN3):c.581C>T (p.Ser194Phe)

SNV
Germline

Chr15:42387835

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10605165

rs_886043143

2 SubmittersRCV000396191 RCV004764924

NM_000070.3(CAPN3):c.351C>T (p.Asn117=)

SNV
Germline

Chr15:42384524

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7510923

rs_772886155

2 SubmittersRCV000363118 RCV001457345

NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)

SNV
Germline

Chr15:42410931

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511827

rs_886043191

5 SubmittersRCV000328442 RCV001859629 RCV003475909

NM_000070.3(CAPN3):c.2184G>A (p.Gln728=)

SNV
Germline

Chr15:42410496

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA10605258

rs_886043220

3 SubmittersRCV000348271 RCV000795002 RCV003463762

NM_000070.3(CAPN3):c.648C>T (p.Tyr216=)

SNV
Germline

Chr15:42388943

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511091

rs_138846390

3 SubmittersRCV000284435 RCV001487950

NM_000070.3(CAPN3):c.183C>T (p.Phe61=)

SNV
Germline

Chr15:42359988

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7510870

rs_146069933

3 SubmittersRCV000283954 RCV001088907 RCV004543074

NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)

SNV
Germline

Chr15:42408252

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy, recessive
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511573

rs_201607149

5 SubmittersRCV000311434 RCV000339965 RCV000408139

NM_000070.3(CAPN3):c.1030-7G>A

SNV
Germline

Chr15:42394249

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10605405

rs_886043344

2 SubmittersRCV000285940 RCV001479502

NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)

SNV
Germline

Chr15:42401763

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA10605479

rs_557164942

5 SubmittersRCV000267747 RCV000669446 RCV002494858 RCV003463765

NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)

SNV
Germline

Chr15:42401810

Pathogenic

Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10605515

rs_886043432

6 SubmittersRCV000313599 RCV001196491 RCV001249768 RCV004999233

NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys)

SNV
Germline

Chr15:42384540

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10605522

rs_886043437

2 SubmittersRCV000391985 RCV000534527

NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)

SNV
Germline

Chr15:42360037

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7510874

rs_138867099

6 SubmittersRCV000408097 RCV001086033

NM_000070.3(CAPN3):c.802-10C>T

SNV
Germline

Chr15:42389943

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10605847

rs_747895099

2 SubmittersRCV000288147 RCV001446184

NM_000070.3(CAPN3):c.1801-1G>A

SNV
Germline

Chr15:42408210

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10605901

rs_886043752

4 SubmittersRCV000310673 RCV000726084 RCV003475915

NM_000070.3(CAPN3):c.1686G>A (p.Glu562=)

SNV
Germline

Chr15:42402943

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511465

rs_569866483

2 SubmittersRCV000361396 RCV001426524

NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)

SNV
Germline

Chr15:42388944

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511092

rs_773001194

5 SubmittersRCV000323826 RCV001068856 RCV003463771

NM_000070.3(CAPN3):c.1355-1G>C

SNV
Germline

Chr15:42401640

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7511340

rs_747557404

6 SubmittersRCV000596715 RCV001072038 RCV003463772 RCV004701388

NM_000070.3(CAPN3):c.2440-1G>A

SNV
Germline

Chr15:42411746

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10606282

rs_886044052

5 SubmittersRCV000595361 RCV000726259 RCV003475916

NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)

SNV
Germline

Chr15:42408227

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7511567

rs_199806879

9 SubmittersRCV000354372 RCV000727197 RCV000763349 RCV003475918 RCV003330627

NM_000070.3(CAPN3):c.768C>T (p.Ile256=)

SNV
Germline

Chr15:42389063

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511107

rs_748032310

2 SubmittersRCV000337197 RCV002518090

NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)

SNV
Germline

Chr15:42401752

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7511363

rs_147764579

16 SubmittersRCV000350336 RCV000517354 RCV002504018 RCV002509353 RCV003475920 RCV004535436

NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)

SNV
Germline

Chr15:42402900

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511454

rs_146309264

4 SubmittersRCV000333524 RCV001081033

NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)

SNV
Germline

Chr15:42411315

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy, recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511863

rs_143139259

4 SubmittersRCV000335103 RCV000373425 RCV000380995

NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)

SNV
Germline

Chr15:42387862

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7511069

rs_763719290

4 SubmittersRCV000314946 RCV000686362 RCV001267485

NM_000070.3(CAPN3):c.2119G>C (p.Asp707His)

SNV
Germline

Chr15:42410431

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10606740

rs_886044427

2 SubmittersRCV000324676 RCV000525491

NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)

SNV
Germline

Chr15:42402919

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA10606744

rs_752848213

2 SubmittersRCV000298797 RCV000812975

NM_000070.3(CAPN3):c.1542C>T (p.His514=)

SNV
Germline

Chr15:42402799

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511430

rs_377215244

2 SubmittersRCV000385306 RCV001403267

NM_000070.3(CAPN3):c.2263+1G>A

SNV
Germline

Chr15:42410667

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10606801

rs_886044475

3 SubmittersRCV000375361 RCV000726501

NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser)

SNV
Germline

Chr15:42402963

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10606813

rs_886044483

2 SubmittersRCV000370228 RCV003517180

NM_000070.3(CAPN3):c.-104G>C

SNV
Germline

Chr15:42359702

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641815

rs_149698681

3 SubmittersRCV000349449 RCV000391068 RCV000831632

NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)

SNV
Germline

Chr15:42410889

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511815

rs_148246325

5 SubmittersRCV000270323 RCV000327631 RCV003144204

NM_000070.3(CAPN3):c.590G>A (p.Arg197His)

SNV
Germline

Chr15:42387844

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511064

rs_768426565

6 SubmittersRCV000387421 RCV003475931 RCV003144203

NM_000070.3(CAPN3):c.618G>A (p.Glu206=)

SNV
Germline

Chr15:42387872

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511071

rs_541597520

2 SubmittersRCV000289675 RCV000400417

NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln)

SNV
Germline

Chr15:42394271

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy, recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511234

rs_146403258

3 SubmittersRCV000261355 RCV000318913 RCV000485851

NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)

SNV
Germline

Chr15:42409968

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy, recessive

Criteria Provided
Conflicting Classifications

CA10646935

rs_867628179

3 SubmittersRCV000276252 RCV000368483

NM_000070.3(CAPN3):c.945+14C>T

SNV
Germline

Chr15:42390110

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511176

rs_763112832

3 SubmittersRCV000424719 RCV001119211

NM_000070.3(CAPN3):c.1115+2T>C

SNV
Germline

Chr15:42394343

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA16607778

rs_1057524468

4 SubmittersRCV000436181 RCV003476018 RCV003631123

NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)

SNV
Germline

Chr15:42387847

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
not specified

Criteria Provided
Conflicting Classifications

CA7511066

rs_371166254

7 SubmittersRCV000480853 RCV000528940 RCV003476161 RCV004767291

NM_000070.3(CAPN3):c.813C>G (p.Asn271Lys)

SNV
Germline

Chr15:42389964

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA16619927

rs_765292152

2 SubmittersRCV000481092 RCV001851202

NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg)

SNV
Germline

Chr15:42392678

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391998820

rs_1085307995

3 SubmittersRCV000489651 RCV000644994 RCV003464039

NM_000070.3(CAPN3):c.2327A>G (p.Asn776Ser)

SNV
Germline

Chr15:42410947

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA392002091

rs_1085307534

2 SubmittersRCV000489841 RCV004568603

NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)

SNV
Germline

Chr15:42394296

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA269840817

rs_988027905

6 SubmittersRCV000493163 RCV000667745 RCV001731719

NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)

SNV
Germline

Chr15:42387772

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997785

rs_1555420475

2 SubmittersRCV000509589

NM_000070.3(CAPN3):c.2440-2A>G

SNV
Germline

Chr15:42411745

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA7511915

rs_769688710

2 SubmittersRCV000516961 RCV003631127

NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)

SNV
Germline

Chr15:42402920

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511461

rs_138172448

6 SubmittersRCV000546918 RCV000734564 RCV002483453

NM_000070.3(CAPN3):c.270C>T (p.Ser90=)

SNV
Germline

Chr15:42360075

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7510885

rs_753686702

2 SubmittersRCV000729694 RCV001088598

NM_000070.3(CAPN3):c.1818G>A (p.Ser606=)

SNV
Germline

Chr15:42408228

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511568

rs_28364528

3 SubmittersRCV000547411 RCV000596379

NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)

SNV
Germline

Chr15:42394325

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511243

rs_767106920

8 SubmittersRCV000537811 RCV002491061 RCV002282221 RCV003476295 RCV003144340

NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)

SNV
Germline

Chr15:42410432

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7511744

rs_200379491

13 SubmittersRCV000542626 RCV000723534 RCV002476173 RCV003476296 RCV004538015

NM_000070.3(CAPN3):c.1263G>A (p.Leu421=)

SNV
Germline

Chr15:42399561

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511306

rs_372450879

4 SubmittersRCV000731053 RCV001083523 RCV004541719

NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)

SNV
Germline

Chr15:42388935

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511089

rs_369784333

9 SubmittersRCV000597389 RCV000673077 RCV002509457 RCV003471951

NM_000070.3(CAPN3):c.363C>G (p.Ile121Met)

SNV
Germline

Chr15:42384536

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA269832799

rs_901764287

3 SubmittersRCV000595690 RCV002532362 RCV005000364

NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)

SNV
Germline

Chr15:42392720

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA7511222

rs_766334893

6 SubmittersRCV000591954 RCV000627356 RCV003459462 RCV005000366

NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)

SNV
Germline

Chr15:42401723

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7511358

rs_147914333

6 SubmittersRCV000596913 RCV001085399 RCV004024708

NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)

SNV
Germline

Chr15:42396802

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391999114

rs_1555421523

3 SubmittersRCV000593102 RCV000757882

NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter)

SNV
Germline

Chr15:42396811

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391999140

rs_1555421524

2 SubmittersRCV000592765 RCV001388137

NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)

SNV
Germline

Chr15:42387757

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391997748

rs_1555420462

4 SubmittersRCV000593032 RCV000726798 RCV003459465

NM_000070.3(CAPN3):c.2292C>T (p.Asp764=)

SNV
Germline

Chr15:42410912

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511822

rs_187279903

2 SubmittersRCV000594942 RCV001080050

NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)

SNV
Germline

Chr15:42402878

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7511448

rs_142004418

12 SubmittersRCV000595213 RCV000762951 RCV000726807 RCV002298702 RCV003222054 RCV004732952

NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)

SNV
Germline

Chr15:42409973

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
not specified
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511710

rs_190793093

10 SubmittersRCV000597401 RCV000644983 RCV002476300 RCV003387895 RCV003459469

NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)

SNV
Germline

Chr15:42410638

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA269853677

rs_147774793

3 SubmittersRCV000593493 RCV001247085 RCV003459470

NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr)

SNV
Germline

Chr15:42401725

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA391999851

rs_1555422111

2 SubmittersRCV000595569 RCV001247084

NM_000070.3(CAPN3):c.2051-3C>A

SNV
Germline

Chr15:42409928

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA269852680

rs_201294691

2 SubmittersRCV000591823 RCV001521187

NM_000070.3(CAPN3):c.1869G>A (p.Glu623=)

SNV
Germline

Chr15:42408279

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA489885486

rs_1391429681

2 SubmittersRCV000598317 RCV001464467

NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)

SNV
Germline

Chr15:42401807

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511381

rs_370231427

6 SubmittersRCV000591189 RCV001085351 RCV004543365

NM_000070.3(CAPN3):c.2040C>T (p.Val680=)

SNV
Germline

Chr15:42409834

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511664

rs_200583904

3 SubmittersRCV000591037 RCV001079051

NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)

SNV
Germline

Chr15:42394295

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511241

rs_774273767

5 SubmittersRCV000591299 RCV000673918 RCV003471959

NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)

SNV
Germline

Chr15:42401667

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391999721

rs_1274808359

9 SubmittersRCV000592929 RCV000727349 RCV003235305 RCV003471960

NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)

SNV
Germline

Chr15:42388996

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA16609628

rs_1555420634

7 SubmittersRCV000593803 RCV000727400 RCV005000372

NM_000070.3(CAPN3):c.2380+19C>T

SNV
Germline

Chr15:42411019

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511845

rs_141234995

4 SubmittersRCV000594857 RCV001278236

NM_000070.3(CAPN3):c.1783-5T>C

SNV
Germline

Chr15:42405921

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511533

rs_780680647

2 SubmittersRCV000592730 RCV001399272

NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)

SNV
Germline

Chr15:42401803

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
not specified

Criteria Provided
Conflicting Classifications

CA391999998

rs_1555422136

5 SubmittersRCV000597737 RCV000727466 RCV003471964 RCV004701696

NM_000070.3(CAPN3):c.864A>G (p.Ala288=)

SNV
Germline

Chr15:42390015

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA489878957

rs_1555420768

3 SubmittersRCV000591199 RCV001278221

NM_000070.3(CAPN3):c.468C>T (p.Ile156=)

SNV
Germline

Chr15:42386255

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511021

rs_143942248

3 SubmittersRCV001395030 RCV001698499

NM_000070.3(CAPN3):c.552G>A (p.Thr184=)

SNV
Germline

Chr15:42387806

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511053

rs_147808529

6 SubmittersRCV000605183 RCV000730156 RCV001079344

NM_000070.3(CAPN3):c.1800+12G>A

SNV
Germline

Chr15:42405955

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511541

rs_542523863

4 SubmittersRCV000609014 RCV001116288

NM_000070.3(CAPN3):c.945+15G>A

SNV
Germline

Chr15:42390111

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511177

rs_567256305

3 SubmittersRCV000602800 RCV001119212

NM_000070.3(CAPN3):c.1115+2T>A

SNV
Germline

Chr15:42394343

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391999103

rs_1057524468

1 SubmittersRCV000644977

NM_000070.3(CAPN3):c.1524+1G>A

SNV
Germline

Chr15:42401811

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

CA392000015

rs_1275289254

2 SubmittersRCV000644980 RCV003459540

NM_000070.3(CAPN3):c.1227A>C (p.Thr409=)

SNV
Germline

Chr15:42399525

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511295

rs_111806046

2 SubmittersRCV000732854 RCV001088795

NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)

SNV
Germline

Chr15:42360096

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_758058910

2 SubmittersRCV000660877 RCV004800511

NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)

SNV
Germline

Chr15:42410645

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_768090444

1 SubmittersRCV000660878

NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)

SNV
Germline

Chr15:42387763

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555420468

3 SubmittersRCV000673164

NM_000070.3(CAPN3):c.632+4A>G

SNV
Germline

Chr15:42387890

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555420507

3 SubmittersRCV000665369 RCV003459570

NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)

SNV
Germline

Chr15:42388959

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1345121557

5 SubmittersRCV000672914 RCV001332162 RCV001784277 RCV002499184

NM_000070.3(CAPN3):c.1030-1G>A

SNV
Germline

Chr15:42394255

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555421263

3 SubmittersRCV000672816

NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)

SNV
Germline

Chr15:42410633

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_750083132

6 SubmittersRCV000670735 RCV001784265 RCV003330890 RCV003459619

NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)

SNV
Germline

Chr15:42389999

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555420765

4 SubmittersRCV000671506 RCV001731876 RCV003459626

NM_000070.3(CAPN3):c.1524+1G>T

SNV
Germline

Chr15:42401811

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1275289254

2 SubmittersRCV000669957

NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser)

SNV
Germline

Chr15:42359954

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1262587749

2 SubmittersRCV000670032 RCV004586863

NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)

SNV
Germline

Chr15:42392678

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

rs_1085307995

3 SubmittersRCV000669275 RCV003459611

NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly)

SNV
Unknown

Chr15:42394287

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555421271

2 SubmittersRCV000673597 RCV004568557

NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter)

SNV
Unknown

Chr15:42399532

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1555421847

1 SubmittersRCV000673275

NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)

SNV
Germline

Chr15:42399640

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_776043976

3 SubmittersRCV000669159 RCV003472111

NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter)

SNV
Unknown

Chr15:42409801

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1555423015

1 SubmittersRCV000672316

NM_000070.3(CAPN3):c.2050+1G>A

SNV
Germline

Chr15:42409845

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_768374736

6 SubmittersRCV000669271 RCV001784257 RCV003459610 RCV004526742

NM_000070.3(CAPN3):c.2051-1G>C

SNV
Unknown

Chr15:42409930

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_886042108

1 SubmittersRCV000674040

NM_000070.3(CAPN3):c.2T>C (p.Met1Thr)

SNV
Unknown

Chr15:42359807

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1555417257

1 SubmittersRCV000672743

NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)

SNV
Germline

Chr15:42389050

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1555420652

5 SubmittersRCV000671167 RCV001553721 RCV003140069

NM_000070.3(CAPN3):c.801+1G>A

SNV
Germline

Chr15:42389097

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1459288402

6 SubmittersRCV000668182 RCV001509478 RCV003459593

NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)

SNV
Germline

Chr15:42394305

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555421280

3 SubmittersRCV000665357 RCV000733826

NM_000070.3(CAPN3):c.1115+1G>A

SNV
Unknown

Chr15:42394342

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1555421293

1 SubmittersRCV000674148

NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys)

SNV
Germline

Chr15:42396840

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

rs_919442493

3 SubmittersRCV000673176 RCV004568551

NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)

SNV
Germline

Chr15:42399500

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

rs_371784007

5 SubmittersRCV000668931 RCV000728828 RCV002507166

NM_000070.3(CAPN3):c.1355-6G>T

SNV
Germline

Chr15:42401635

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_28364485

2 SubmittersRCV000674618

NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)

SNV
Germline

Chr15:42402914

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_767739787

6 SubmittersRCV000668383 RCV001584540 RCV001814213 RCV003459596

NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter)

SNV
Unknown

Chr15:42408268

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1555422839

1 SubmittersRCV000674022

NM_000070.3(CAPN3):c.1914+2T>C

SNV
Germline

Chr15:42408326

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555422856

2 SubmittersRCV000667932

NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter)

SNV
Germline

Chr15:42409336

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_777636094

2 SubmittersRCV000672598 RCV001784274

NM_000070.3(CAPN3):c.2115+1G>A

SNV
Germline

Chr15:42409996

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_766917640

5 SubmittersRCV000671447 RCV003472137 RCV004586865

NM_000070.3(CAPN3):c.2184+2T>C

SNV
Unknown

Chr15:42410498

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1555423146

1 SubmittersRCV000674774

NM_000070.3(CAPN3):c.2380+1G>T

SNV
Germline

Chr15:42411001

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555423222

3 SubmittersRCV000671146 RCV003472135

NM_000070.3(CAPN3):c.897C>A (p.Leu299=)

SNV
Germline

Chr15:42390048

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_370313391

4 SubmittersRCV000728177 RCV001080817

NM_000070.3(CAPN3):c.1993-5C>T

SNV
Germline

Chr15:42409782

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_1566984719

2 SubmittersRCV000728471 RCV001488963

NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)

SNV
Germline

Chr15:42402907

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

rs_766405190

4 SubmittersRCV000730715 RCV001278229 RCV004535838

NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)

SNV
Germline

Chr15:42408265

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566983844

3 SubmittersRCV000730818 RCV001213723 RCV003472265

NM_000070.3(CAPN3):c.492C>T (p.His164=)

SNV
Germline

Chr15:42386279

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_746311570

2 SubmittersRCV000730928 RCV001401882

NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)

SNV
Germline

Chr15:42399631

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_773827877

3 SubmittersRCV000732092 RCV001855673 RCV004569417

NM_000070.3(CAPN3):c.2061G>A (p.Leu687=)

SNV
Germline

Chr15:42409941

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_1566984937

2 SubmittersRCV000732610 RCV003631157

NM_000070.3(CAPN3):c.1947G>A (p.Glu649=)

SNV
Germline

Chr15:42409335

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_79440238

4 SubmittersRCV000732909 RCV001080460

NM_000070.3(CAPN3):c.1290A>G (p.Thr430=)

SNV
Germline

Chr15:42399588

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_757482856

2 SubmittersRCV000733402 RCV001505879

NM_000070.3(CAPN3):c.783C>T (p.Leu261=)

SNV
Germline

Chr15:42389078

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_1566975668

2 SubmittersRCV000733571 RCV002535338

NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)

SNV
Germline

Chr15:42392660

Pathogenic

Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

rs_750443041

5 SubmittersRCV000760360 RCV003461018 RCV001051737 RCV004997267

NM_000070.3(CAPN3):c.2380+2T>G

SNV
Germline

Chr15:42411002

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_761935462

6 SubmittersRCV000779157 RCV001814232 RCV003229862

NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)

SNV
Germline

Chr15:42399625

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

rs_1595834751

4 SubmittersRCV000820146 RCV003145204 RCV004538126

NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp)

SNV
Germline

Chr15:42401734

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_781723572

1 SubmittersRCV000819470

NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro)

SNV
Germline

Chr15:42410926

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

rs_80338802

2 SubmittersRCV000808148 RCV003461179

NM_000070.3(CAPN3):c.946-2A>G

SNV
Germline

Chr15:42392637

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1595826673

5 SubmittersRCV000821687 RCV001091250 RCV001814242 RCV003461274 RCV004540120

NM_000070.3(CAPN3):c.2440-1G>C

SNV
Germline

Chr15:42411746

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_886044052

1 SubmittersRCV000815849

NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)

SNV
Germline

Chr15:42394332

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1595828703

1 SubmittersRCV001004982

NM_000070.3(CAPN3):c.1193+6T>A

SNV
Germline

Chr15:42396883

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555421532

5 SubmittersRCV001004974 RCV001310746 RCV003235444

NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)

SNV
Germline

Chr15:42408307

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

rs_1595844413

2 SubmittersRCV001004976 RCV003461311

NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)

SNV
Germline

Chr15:42410615

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1595847257

2 SubmittersRCV001004959

NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)

SNV
Germline

Chr15:42386184

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified

Criteria Provided
Conflicting Classifications

rs_946415346

4 SubmittersRCV001068857 RCV003479277

NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)

SNV
Germline

Chr15:42387773

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2053442769

2 SubmittersRCV001046209

NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly)

SNV
Germline

Chr15:42387862

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_763719290

1 SubmittersRCV001045585

NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe)

SNV
Germline

Chr15:42402124

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1409503203

2 SubmittersRCV003462616 RCV001070692

NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)

SNV
Germline

Chr15:42410474

Pathogenic/Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_774048414

3 SubmittersRCV003462561 RCV001053864

NM_000070.3(CAPN3):c.1002C>T (p.His334=)

SNV
Germline

Chr15:42392695

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_374833797

3 SubmittersRCV001119213

NM_000070.3(CAPN3):c.1227A>T (p.Thr409=)

SNV
Germline

Chr15:42399525

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_111806046

2 SubmittersRCV001121212

NM_000070.3(CAPN3):c.1902G>A (p.Lys634=)

SNV
Germline

Chr15:42408312

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_2054086848

2 SubmittersRCV001116289

NM_000070.3(CAPN3):c.2051-8C>T

SNV
Germline

Chr15:42409923

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_754375124

2 SubmittersRCV001117728

NM_000070.3(CAPN3):c.1782+1072G>C

SNV
Germline

Chr15:42404849

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

rs_2053974373

2 SubmittersRCV001217778 RCV003462737

NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)

SNV
Germline

Chr15:42402953

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

rs_747819910

5 SubmittersRCV001228061 RCV002265011 RCV003473793

NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe)

SNV
Germline

Chr15:42399500

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_371784007

2 SubmittersRCV001239389 RCV003462811

NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)

SNV
Germline

Chr15:42402818

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2053910936

3 SubmittersRCV001246101 RCV003462825

NM_000070.3(CAPN3):c.1525-1G>T

SNV
Germline

Chr15:42402123

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2053889963

1 SubmittersRCV001232871

NM_000070.3(CAPN3):c.1194-2A>G

SNV
Unknown

Chr15:42399490

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2053804014

1 SubmittersRCV001249767

NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter)

SNV
Unknown

Chr15:42384516

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2053335168

1 SubmittersRCV001263854

NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)

SNV
Germline

Chr15:42389042

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_757448865

4 SubmittersRCV001263855 RCV002499453 RCV003462840

NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)

SNV
Germline

Chr15:42389067

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2053484604

2 SubmittersRCV001263856

NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter)

SNV
Unknown

Chr15:42392666

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2053589887

1 SubmittersRCV001263857

NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter)

SNV
Unknown

Chr15:42409963

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2054157050

1 SubmittersRCV001263858

NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)

SNV
Germline

Chr15:42410475

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2054179951

2 SubmittersRCV001264018

NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter)

SNV
Unknown

Chr15:42411000

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2054206966

1 SubmittersRCV001264019

NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala)

SNV
Germline

Chr15:42359852

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_775742866

4 SubmittersRCV001277693 RCV003145505 RCV004967938

NM_000070.3(CAPN3):c.643T>C (p.Ser215Pro)

SNV
Germline

Chr15:42388938

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2053478068

1 SubmittersRCV001290339

NM_000070.3(CAPN3):c.638A>G (p.His213Arg)

SNV
Germline

Chr15:42388933

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

rs_768447053

4 SubmittersRCV001306628 RCV002241861 RCV003462875

NM_000070.3(CAPN3):c.379+3A>T

SNV
Germline

Chr15:42384555

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1164215001

1 SubmittersRCV001362667

NM_000070.3(CAPN3):c.945+1G>T

SNV
Germline

Chr15:42390097

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1375420170

1 SubmittersRCV001379391

NM_000070.3(CAPN3):c.2185-16A>G

SNV
Germline

Chr15:42410572

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1339644598

2 SubmittersRCV001378423 RCV001587385

NM_000070.3(CAPN3):c.2380+1G>A

SNV
Germline

Chr15:42411001

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1555423222

1 SubmittersRCV001378804

NM_000070.3(CAPN3):c.286C>T (p.Gln96Ter)

SNV
Germline

Chr15:42360091

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1476836379

1 SubmittersRCV001389563

NM_000070.3(CAPN3):c.389G>A (p.Trp130Ter)

SNV
Germline

Chr15:42386176

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2141160443

1 SubmittersRCV001380498

NM_000070.3(CAPN3):c.1999G>T (p.Glu667Ter)

SNV
Germline

Chr15:42409793

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2141221307

1 SubmittersRCV001384539

NM_000070.3(CAPN3):c.1062G>A (p.Val354=)

SNV
Germline

Chr15:42394288

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

rs_776793553

2 SubmittersRCV001470171 RCV001559254

NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)

SNV
Germline

Chr15:42401681

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

rs_760344791

2 SubmittersRCV001491110 RCV001559255

NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro)

SNV
Germline

Chr15:42389088

Conflicting classifications of pathogenicity

Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_2053485355

3 SubmittersRCV001814530 RCV003339671

NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile)

SNV
Germline

Chr15:42401788

Conflicting classifications of pathogenicity

Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

rs_751104396

3 SubmittersRCV001814382 RCV001873811

NM_000070.3(CAPN3):c.2217C>G (p.Ser739=)

SNV
Germline

Chr15:42410620

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_148851444

1 SubmittersRCV001554269

NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg)

SNV
Germline

Chr15:42401772

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

rs_761637940

3 SubmittersRCV001562120 RCV002570733 RCV003474008

NM_000070.3(CAPN3):c.1363T>C (p.Trp455Arg)

SNV
Germline

Chr15:42401649

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2141199370

1 SubmittersRCV001730018

NM_000070.3(CAPN3):c.379+3A>G

SNV
Germline

Chr15:42384555

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

rs_1164215001

4 SubmittersRCV001774552 RCV002512158 RCV004571079

NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)

SNV
Germline

Chr15:42384520

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2053335268

2 SubmittersRCV001779555

NM_000070.3(CAPN3):c.358G>A (p.Asp120Asn)

SNV
Germline

Chr15:42384531

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_765935351

2 SubmittersRCV004577109 RCV004801467

NM_000070.3(CAPN3):c.743T>G (p.Met248Arg)

SNV
Germline

Chr15:42389038

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_777829958

3 SubmittersRCV001784072 RCV002034610 RCV003487780

NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly)

SNV
Germline

Chr15:42384525

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1566973583

1 SubmittersRCV002250772

NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys)

SNV
Germline

Chr15:42410929

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2141225644

1 SubmittersRCV001805741

NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val)

SNV
Germline

Chr15:42410932

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_752397587

1 SubmittersRCV001808032

NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter)

SNV
Germline

Chr15:42401742

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2141199686

1 SubmittersRCV001992920

NM_000070.3(CAPN3):c.754A>G (p.Met252Val)

SNV
Germline

Chr15:42389049

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2053483911

1 SubmittersRCV002048143

NM_000070.3(CAPN3):c.1084C>T (p.Gln362Ter)

SNV
Germline

Chr15:42394310

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_965032792

2 SubmittersRCV001941728 RCV004720988

NM_000070.3(CAPN3):c.802-2A>G

SNV
Germline

Chr15:42389951

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2141170197

1 SubmittersRCV001964090

NM_000070.3(CAPN3):c.661G>A (p.Gly221Ser)

SNV
Germline

Chr15:42388956

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1432632972

1 SubmittersRCV001989087

NM_000070.3(CAPN3):c.1800+2T>C

SNV
Germline

Chr15:42405945

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_748194118

1 SubmittersRCV001893662

NM_000070.3(CAPN3):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:42359806

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_1566965796

1 SubmittersRCV002002571

NM_000070.3(CAPN3):c.1782+2T>C

SNV
Germline

Chr15:42403779

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_754930571

1 SubmittersRCV002037538

NM_000070.3(CAPN3):c.641G>A (p.Gly214Asp)

SNV
Germline

Chr15:42388936

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_761430243

1 SubmittersRCV001913001

NM_000070.3(CAPN3):c.2050+1G>C

SNV
Germline

Chr15:42409845

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_768374736

1 SubmittersRCV001904132

NM_000070.3(CAPN3):c.1029+1G>A

SNV
Germline

Chr15:42392723

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2141177054

1 SubmittersRCV001970493

NM_000070.3(CAPN3):c.648C>G (p.Tyr216Ter)

SNV
Germline

Chr15:42388943

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_138846390

1 SubmittersRCV001888198

NM_000070.3(CAPN3):c.498+1G>A

SNV
Germline

Chr15:42386286

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

rs_2141160881

1 SubmittersRCV001949581

NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter)

SNV
Germline

Chr15:42390049

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2141170517

2 SubmittersRCV001956513 RCV003490976

NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)

SNV
Unknown

Chr15:42387797

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV002306568

NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)

SNV
Unknown

Chr15:42410639

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV002309801

NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)

SNV
Unknown

Chr15:42387809

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV002307037

NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)

SNV
Unknown

Chr15:42389055

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV002307064

NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)

SNV
Unknown

Chr15:42410901

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV002307272

NM_000070.3(CAPN3):c.1354+1G>A

SNV
Germline

Chr15:42399653

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

2 SubmittersRCV003058459 RCV003459731

NM_000070.3(CAPN3):c.1193+1G>A

SNV
Germline

Chr15:42396878

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003061609

NM_000070.3(CAPN3):c.1536+1G>T

SNV
Germline

Chr15:42402136

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV002628212

NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)

SNV
Germline

Chr15:42359939

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003143525 RCV002659677

NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)

SNV
Germline

Chr15:42402938

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003112307

NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)

SNV
Germline

Chr15:42359808

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV002881476

NM_000070.3(CAPN3):c.801+2T>G

SNV
Germline

Chr15:42389098

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV002852310

NM_000070.3(CAPN3):c.945+1G>A

SNV
Germline

Chr15:42390097

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV002876265

NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)

SNV
Germline

Chr15:42408313

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

2 SubmittersRCV003016212 RCV003459697

NM_000070.3(CAPN3):c.379+1G>A

SNV
Germline

Chr15:42384553

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003005848

NM_000070.3(CAPN3):c.380-2A>G

SNV
Germline

Chr15:42386165

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003019323

NM_000070.3(CAPN3):c.380-1G>A

SNV
Germline

Chr15:42386166

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003031151

NM_000070.3(CAPN3):c.2116-1G>C

SNV
Germline

Chr15:42410427

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003042035

NM_000070.3(CAPN3):c.802-1G>A

SNV
Germline

Chr15:42389952

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003014953

NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr15:42402809

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003040927

NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)

SNV
Unknown

Chr15:42384552

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003153101

NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)

SNV
Germline

Chr15:42396812

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

1 SubmittersRCV003326700

NM_000070.3(CAPN3):c.2439+1G>T

SNV
Germline

Chr15:42411346

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003314261

NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)

SNV
Germline

Chr15:42399607

Pathogenic/Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003474475 RCV003517504 RCV004587503

NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr15:42396846

Pathogenic

Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

2 SubmittersRCV003460315 RCV003631324

NM_000070.3(CAPN3):c.1525-2A>G

SNV
Germline

Chr15:42402122

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003518074

NM_000070.3(CAPN3):c.1524+1G>C

SNV
Germline

Chr15:42401811

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003518615

NM_000070.3(CAPN3):c.413T>C (p.Leu138Pro)

SNV
Germline

Chr15:42386200

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003518798

NM_000070.3(CAPN3):c.1742C>G (p.Ser581Cys)

SNV
Germline

Chr15:42402999

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003518800

NM_000070.3(CAPN3):c.1992+1G>A

SNV
Germline

Chr15:42409381

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003518802

NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)

SNV
Germline

Chr15:42409324

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003517594

NM_000070.3(CAPN3):c.633-1G>A

SNV
Germline

Chr15:42388927

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003631642

NM_000070.3(CAPN3):c.1008C>G (p.Tyr336Ter)

SNV
Germline

Chr15:42392701

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003632042

NM_000070.3(CAPN3):c.1536+3A>G

SNV
Germline

Chr15:42402138

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003632777

NM_000070.3(CAPN3):c.956C>G (p.Pro319Arg)

SNV
Germline

Chr15:42392649

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003632843

NM_000070.3(CAPN3):c.1978C>T (p.Gln660Ter)

SNV
Germline

Chr15:42409366

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003842970

NM_000070.3(CAPN3):c.664G>C (p.Gly222Arg)

SNV
Germline

Chr15:42388959

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003858778

NM_000070.3(CAPN3):c.1375C>T (p.Gln459Ter)

SNV
Germline

Chr15:42401661

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003865114

NM_000070.3(CAPN3):c.1536G>C (p.Glu512Asp)

SNV
Germline

Chr15:42402135

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV004765113

NM_000070.3(CAPN3):c.377T>C (p.Leu126Pro)

SNV
Germline

Chr15:42384550

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV004780044

NM_000070.3(CAPN3):c.1745+1G>A

SNV
Germline

Chr15:42403003

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV004796561