| - GRCh37:
- Chr15:42652269
- GRCh38:
- Chr15:42360071
| CAPN3 | Y89C | Muscular dystrophy, limb-girdle, autosomal dominant 4 | Uncertain significance
(Dec 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42682220
- GRCh38:
- Chr15:42390022
| CAPN3 | V291I, V204I | Muscular dystrophy, limb-girdle, autosomal dominant 4 | Uncertain significance
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42681135
- GRCh38:
- Chr15:42388937
| CAPN3 | | Muscular dystrophy, limb-girdle, autosomal dominant 4 | Uncertain significance
(Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42678437
- GRCh38:
- Chr15:42386239
| CAPN3, LOC126862115 | H151R | Familial idiopathic inflammatory myopathy, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42702687
- GRCh38:
- Chr15:42410489
| CAPN3 | A214V, A61V, A634V, A720V, A726V | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42679964
- GRCh38:
- Chr15:42387766
| CAPN3 | G171E | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42702796
- GRCh38:
- Chr15:42410598
| CAPN3 | K220T, K640T, K67T, K726T, K732T | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42652107
- GRCh38:
- Chr15:42359909
| CAPN3 | G35A | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4 | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42681057
- GRCh38:
- Chr15:42388859
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided
| Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42693879
- GRCh38:
- Chr15:42401681
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4 | Conflicting interpretations of pathogenicity
(Dec 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42686486
- GRCh38:
- Chr15:42394288
| CAPN3 | | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A | Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42702861
- GRCh38:
- Chr15:42410663
| CAPN3 | A242T, A662T, A748T, A754T, A89T | Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided | Uncertain significance
(May 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42681240
- GRCh38:
- Chr15:42389042
| CAPN3 | Y249* | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Likely pathogenic
(Oct 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42693962
- GRCh38:
- Chr15:42401764
| CAPN3 | R445Q, R493Q | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4
| Uncertain significance
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42686537
- GRCh38:
- Chr15:42394339
| CAPN3 | D323E, D371E | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4 | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42702180
- GRCh38:
- Chr15:42409982
| CAPN3 | I36T, I609T, I701T, I189T, I695T | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695875
- GRCh38:
- Chr15:42403677
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy type 2A, not provided, Muscular dystrophy, limb-girdle, autosomal dominant 4
| Benign/Likely benign
(Jun 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42703406
- GRCh38:
- Chr15:42411208
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided
| Benign
(Jun 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42701688
- GRCh38:
- Chr15:42409490
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided
| Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42698128
- GRCh38:
- Chr15:42405930
| CAPN3 | K596R, K84R | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Inborn genetic diseases,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42676720
- GRCh38:
- Chr15:42384522
| CAPN3 | N117H | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42703200
- GRCh38:
- Chr15:42411002
| CAPN3 | | Muscular dystrophy, limb-girdle, autosomal dominant 4, Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Conflicting interpretations of pathogenicity
(Jul 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42652055
- GRCh38:
- Chr15:42359857
| CAPN3 | R18W | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, not provided
| Uncertain significance
(May 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42652056
- GRCh38:
- Chr15:42359858
| CAPN3 | R18Q | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4
| Uncertain significance
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42681157
- GRCh38:
- Chr15:42388959
| CAPN3 | G222R | 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, not provided | Pathogenic/Likely pathogenic
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42691698
- GRCh38:
- Chr15:42399500
| CAPN3 | Y401C, Y353C | 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 | Conflicting interpretations of pathogenicity
(Jun 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42701572-42701574
- GRCh38:
- Chr15:42409374-42409376
| CAPN3 | G663del, G151del, G657del, G571del | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Uncertain significance
(Aug 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42703130-42703133
- GRCh38:
- Chr15:42410932-42410935
| CAPN3 | D107fs, D260fs, D680fs, D772fs, D766fs | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Pathogenic
(Jan 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42652262
- GRCh38:
- Chr15:42360064
| CAPN3 | L87V | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A,
not provided | Uncertain significance
(Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42702647
- GRCh38:
- Chr15:42410449
| CAPN3 | N713D, N707D, N621D, N201D, N48D | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42684889
- GRCh38:
- Chr15:42392691
| CAPN3 | G333D, G285D | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not specified,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Aug 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42702171
- GRCh38:
- Chr15:42409973
| CAPN3 | R698H, R692H, R33H, R606H, R186H | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4,
not provided | Uncertain significance
(Sep 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695076
- GRCh38:
- Chr15:42402878
| CAPN3 | R541W, R29W, R493W | Autosomal recessive 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, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42693934
- GRCh38:
- Chr15:42401736
| CAPN3 | L484M, L436M | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A,
not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42702630
- GRCh38:
- Chr15:42410432
| CAPN3 | D707G, D195G, D42G, D615G, D701G | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic/Likely pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42701570
- GRCh38:
- Chr15:42409372
| CAPN3 | A662S, A570S, A656S, A150S | 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 | Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695118
- GRCh38:
- Chr15:42402920
| CAPN3 | V555I, V43I, V507I | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Conflicting interpretations of pathogenicity
(Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42652013
- GRCh38:
- Chr15:42359815
| CAPN3 | V4I | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A,
not provided | Uncertain significance
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42686523
- GRCh38:
- Chr15:42394325
| CAPN3 | G367S, G319S | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2A | Likely pathogenic
(Dec 1, 2015) | criteria provided, single submitter |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic
(Feb 11, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42651873
- GRCh38:
- Chr15:42359675
| CAPN3 | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Jul 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42693950
- GRCh38:
- Chr15:42401752
| CAPN3 | R489Q, R441Q | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic/Likely pathogenic
(Dec 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42700425
- GRCh38:
- Chr15:42408227
| CAPN3 | S606L, S600L, S94L | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A,
not provided | Pathogenic/Likely pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695170
- GRCh38:
- Chr15:42402972
| CAPN3 | R572P, R60P, R524P | not provided | Uncertain significance
(Mar 29, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42694000
- GRCh38:
- Chr15:42401802
| CAPN3 | I506V, I458V | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, not provided
| Uncertain significance
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42694011
- GRCh38:
- Chr15:42401813
| CAPN3 | | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, not specified,
not provided | Uncertain significance
(Feb 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42704105
- GRCh38:
- Chr15:42411907
| CAPN3 | | Muscular dystrophy, limb-girdle, autosomal dominant 4, Limb-Girdle Muscular Dystrophy, Recessive, not specified,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42694008
- GRCh38:
- Chr15:42401810
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided
| Conflicting interpretations of pathogenicity
(Mar 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42693961
- GRCh38:
- Chr15:42401763
| CAPN3 | R493G, R445G | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4,
not provided | Uncertain significance
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695980
- GRCh38:
- Chr15:42403782
| CAPN3 | | Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided | Uncertain significance
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42652010
- GRCh38:
- Chr15:42359812
| CAPN3 | T3A | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695040
- GRCh38:
- Chr15:42402842
| CAPN3 | A529T, A17T, A481T | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Limb-Girdle Muscular Dystrophy, Recessive,
not specified, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Uncertain significance
(Sep 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42680041
- GRCh38:
- Chr15:42387843
| CAPN3 | R197C | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A,
not provided | Uncertain significance
(Nov 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695092
- GRCh38:
- Chr15:42402894
| CAPN3 | R546H, R34H, R498H | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42652295
- GRCh38:
- Chr15:42360097
| CAPN3 | V98I | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A,
not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42680087
- GRCh38:
- Chr15:42387889
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42701984
- GRCh38:
- Chr15:42409786
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic/Likely pathogenic
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42691799
- GRCh38:
- Chr15:42399601
| CAPN3 | E435K, E387K | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic/Likely pathogenic
(Jun 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42691746
- GRCh38:
- Chr15:42399548
| CAPN3 | T417M, T369M | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature
| Pathogenic/Likely pathogenic
(Jun 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42702858
- GRCh38:
- Chr15:42410660
| CAPN3 | D753N, D241N, D88N, D661N, D747N | not specified, not provided, CAPN3-Related Disorders,
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4 | Conflicting interpretations of pathogenicity
(Jul 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42682142
- GRCh38:
- Chr15:42389944
| CAPN3 | | 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 | Pathogenic
(Jul 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42678518
- GRCh38:
- Chr15:42386320
| CAPN3, LOC126862115 | | Muscular dystrophy, limb-girdle, autosomal dominant 4, not specified, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42691664
- GRCh38:
- Chr15:42399466
| CAPN3 | | Muscular dystrophy, limb-girdle, autosomal dominant 4, not specified, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Benign
(Jun 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42678424
- GRCh38:
- Chr15:42386226
| CAPN3, LOC126862115 | R147* | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42681133-42681153
- GRCh38:
- Chr15:42388935-42388955
| CAPN3 | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695169
- GRCh38:
- Chr15:42402971
| CAPN3 | R572W, R524W, R60W | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature | Pathogenic
(Apr 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42693949
- GRCh38:
- Chr15:42401751
| CAPN3 | R489W, R441W | 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 | Pathogenic
(Aug 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42652136
- GRCh38:
- Chr15:42359938
| CAPN3 | A45T | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy | Pathogenic/Likely pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42691815
- GRCh38:
- Chr15:42399617
| CAPN3 | R440Q, R392Q | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature | Pathogenic
(Jul 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42676690
- GRCh38:
- Chr15:42384492
| CAPN3 | E107K | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, not specified,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A | Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42693952
- GRCh38:
- Chr15:42401754
| CAPN3 | R490W, R442W | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-Related Disorders,
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided
| Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42684875
- GRCh38:
- Chr15:42392677
| CAPN3 | | Inborn genetic diseases, Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A,
not specified, Autosomal recessive limb-girdle muscular dystrophy type 2A | Benign/Likely benign
(May 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42680003
- GRCh38:
- Chr15:42387805
| CAPN3 | T184M | not specified, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A,
Muscular dystrophy, limb-girdle, autosomal dominant 4, not provided | Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42652099
- GRCh38:
- Chr15:42359901
| CAPN3 | | Limb-Girdle Muscular Dystrophy, Recessive, Muscular dystrophy, limb-girdle, autosomal dominant 4, not specified,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42681199
- GRCh38:
- Chr15:42389001
| CAPN3 | A236T | not specified, Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2A,
not provided, Muscular dystrophy, limb-girdle, autosomal dominant 4 | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42703497
- GRCh38:
- Chr15:42411299
| CAPN3 | A798E, A133E, A706E, A792E, A286E | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4,
Autosomal recessive limb-girdle muscular dystrophy, not provided | Pathogenic
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42694944
- GRCh38:
- Chr15:42402746
| CAPN3 | | Muscular dystrophy, limb-girdle, autosomal dominant 4, not specified, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Benign
(Jun 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42693919
- GRCh38:
- Chr15:42401721
| CAPN3 | S479G, S431G | Autosomal recessive limb-girdle muscular dystrophy type 2A, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A,
Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy | Pathogenic/Likely pathogenic
(Jan 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42693953
- GRCh38:
- Chr15:42401755
| CAPN3 | R490Q, R442Q | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42680001
- GRCh38:
- Chr15:42387803
| CAPN3 | T184fs | Muscular dystrophy, Muscular dystrophy, limb-girdle, autosomal dominant 4, Muscle weakness,
Myopathy, Absent Achilles reflex, Absent muscle fiber calpain-3,
Migraine, Elevated circulating creatine kinase concentration, Progressive spinal muscular atrophy,
Paresthesia, EMG: neuropathic changesDifficulty walking,
Positive Romberg sign, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4,
CAPN3-Related Disorders, Limb-Girdle Muscular Dystrophy, Recessive, not provided,
Congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscle weakness,
Cardiac arrhythmia, Muscular dystrophy, Lower-limb joint contracture,
Elbow flexion contracture, EMG: myopathic abnormalities, Shoulder girdle muscle weakness,
Muscular dystrophy, Limb-girdle muscle weakness, Shoulder girdle muscle weakness,
See cases, ...see more | Pathogenic
(Aug 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42703180-42703181
- GRCh38:
- Chr15:42410982-42410983
| CAPN3 | R123fs, R276fs, R696fs, R782fs, R788fs | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic
(Jan 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42676699
- GRCh38:
- Chr15:42384501
| CAPN3 | R110* | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695170
- GRCh38:
- Chr15:42402972
| CAPN3 | R572Q, R524Q, R60Q | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic
(Jul 25, 2023) | criteria provided, multiple submitters, no conflicts |