| - GRCh37:
- Chr19:47259176
- GRCh38:
- Chr19:46755919
| FKRP | A157P | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Jul 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42678365
- GRCh38:
- Chr15:42386167
| CAPN3, LOC126862115 | G127E, G40E | Autosomal recessive limb-girdle muscular dystrophy | Pathogenic
(May 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:119449661-119463580
| ASTN2, TRIM32 | | Autosomal recessive limb-girdle muscular dystrophy | Pathogenic
(Apr 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:71825804
- GRCh38:
- Chr2:71598674
| DYSF | F1197fs, F1198fs, F1211fs, F1212fs, F1228fs, F1229fs, F1242fs, F1243fs | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Apr 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:184618888-184618889
- GRCh38:
- Chr4:183697735-183697736
| TRAPPC11 | L918fs | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Mar 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:71797734
- GRCh38:
- Chr2:71570604
| DYSF | E1000*, E1013*, E1014*, E1030*, E1031*, E1044*, E1045*, E999* | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Mar 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42691979
- GRCh38:
- Chr15:42399781
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy | Uncertain significance
(May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145047619-145047642
- GRCh38:
- Chr8:143973451-143973474
| PLEC | | Autosomal recessive limb-girdle muscular dystrophy | Uncertain significance
(May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:48244775-48244776
- GRCh38:
- Chr17:50167414-50167415
| SGCA | H29fs | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Feb 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:77767464
- GRCh38:
- Chr14:77301121
| POMT2 | W262* | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Feb 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:48245054
- GRCh38:
- Chr17:50167693
| SGCA | Y90C | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Jan 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:22272558-22291857
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Jan 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:77767463
- GRCh38:
- Chr14:77301120
| POMT2 | W262* | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Jan 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:71906186
- GRCh38:
- Chr2:71679056
| DYSF | | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:119449580-119463580
| ASTN2, TRIM32 | | Autosomal recessive limb-girdle muscular dystrophy | Pathogenic
(Dec 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:134388719-134399194
| POMT1, UCK1 | | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47258726
- GRCh38:
- Chr19:46755469
| FKRP | Q7* | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:71680752-71708012
| DYSF | | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:48243402
- GRCh38:
- Chr17:50166041
| SGCA | M1V | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:119460094
- GRCh38:
- Chr9:116697815
| ASTN2, TRIM32 | E25* | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42679997
- GRCh38:
- Chr15:42387799
| CAPN3 | L182Q | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:134385451
- GRCh38:
- Chr9:131510064
| POMT1 | V202A | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:23869627-23898506
| SGCG | | Autosomal recessive limb-girdle muscular dystrophy | Pathogenic
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:71748035-71776479
| DYSF | | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42651697-42704516
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy | Pathogenic
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:134398349-134398359
- GRCh38:
- Chr9:131522962-131522972
| POMT1 | V529fs, V551fs, V564fs, V586fs, V608fs, V627fs, V649fs, V651fs, V677fs, V681fs, V703fs | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K,
Autosomal recessive limb-girdle muscular dystrophy | Pathogenic/Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134382788
- GRCh38:
- Chr9:131507401
| POMT1 | R105H, R51H, R75H | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:71901391
- GRCh38:
- Chr2:71674261
| DYSF | W1897*, W1898*, W1911*, W1912*, W1918*, W1919*, W1928*, W1929*, W1932*, W1933*, W1942*, W1943*, W1949*, W1950* | Autosomal recessive limb-girdle muscular dystrophy | Pathogenic
(Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:134390910
- GRCh38:
- Chr9:131515523
| POMT1 | | Autosomal recessive limb-girdle muscular dystrophy | Pathogenic
(Jul 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:71886044-71886045
- GRCh38:
- Chr2:71658914-71658915
| DYSF | I1546fs, I1547fs, I1560fs, I1561fs, I1567fs, I1568fs, I1577fs, I1578fs, I1581fs, I1582fs, I1591fs, I1592fs, I1598fs, I1599fs | Autosomal recessive limb-girdle muscular dystrophy | Likely pathogenic
(Jul 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42691839
- GRCh38:
- Chr15:42399641
| CAPN3 | R400L, R448L | Autosomal recessive limb-girdle muscular dystrophy, Abnormality of the musculature | Pathogenic
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:71840490
- GRCh38:
- Chr2:71613360
| DYSF | E1440*, E1441*, E1454*, E1455*, E1471*, E1472*, E1485*, E1486* | Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy, Distal myopathy with anterior tibial onset,
Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B | Pathogenic/Likely pathogenic
(Mar 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:119460477-119460484
- GRCh38:
- Chr9:116698198-116698205
| ASTN2, TRIM32 | L153fs | Sarcotubular myopathy, Bardet-Biedl syndrome 11, Autosomal recessive limb-girdle muscular dystrophy,
Bardet-Biedl syndrome | Pathogenic/Likely pathogenic
(Feb 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46658068
- GRCh38:
- Chr1:46192396
| POMGNT1, TSPAN1 | R299H, R420H, R442H | not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy, Autosomal recessive limb-girdle muscular dystrophy
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42689081
- GRCh38:
- Chr15:42396883
| CAPN3 | | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, not provided
| Conflicting interpretations of pathogenicity
(May 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:23824858
- GRCh38:
- Chr13:23250719
| SGCG | | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2C | Likely pathogenic
(Apr 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:134395581
- GRCh38:
- Chr9:131520194
| POMT1 | | not provided, Autosomal recessive limb-girdle muscular dystrophy, POMT1-Related Disorders,
Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
| Conflicting interpretations of pathogenicity
(Nov 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:134385450
- GRCh38:
- Chr9:131510063
| POMT1 | V202I | Autosomal recessive limb-girdle muscular dystrophy, not provided, Walker-Warburg congenital muscular dystrophy,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K | Pathogenic/Likely pathogenic
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47260121
- GRCh38:
- Chr19:46756864
| FKRP | K472fs | Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
| Conflicting interpretations of pathogenicity
(Mar 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42682197
- GRCh38:
- Chr15:42389999
| CAPN3 | M283T | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic/Likely pathogenic
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47260091
- GRCh38:
- Chr19:46756834
| FKRP | P462S | Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy,
not provided | Pathogenic/Likely pathogenic
(Jul 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:48245758
- GRCh38:
- Chr17:50168397
| SGCA | E137Q | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy | Conflicting interpretations of pathogenicity
(Feb 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42693879-42693881
- GRCh38:
- Chr15:42401681-42401683
| CAPN3 | E467del, E419del | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, not provided
| Likely pathogenic
(May 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46657796
- GRCh38:
- Chr1:46192124
| POMGNT1, TSPAN1 | G505S, G362S, G483S | Muscular dystrophy-dystroglycanopathy, Autosomal recessive limb-girdle muscular dystrophy, Muscle eye brain disease,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
| Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:46659598
- GRCh38:
- Chr1:46193926
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy, Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | Likely pathogenic
(Apr 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52896008
- GRCh38:
- Chr4:52029842
| SGCB | V89M | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2E | Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259635
- GRCh38:
- Chr19:46756378
| FKRP | E310* | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy, not provided,
Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2I
| Pathogenic/Likely pathogenic
(Mar 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:71883296
- GRCh38:
- Chr2:71656166
| DYSF | Y1505C, Y1544C, Y1491C, Y1506C, Y1512C, Y1513C, Y1543C, Y1492C, Y1523C, Y1526C, Y1527C, Y1536C, Y1522C, Y1537C | not provided, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1,
Autosomal recessive limb-girdle muscular dystrophy type 2B, Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
| Conflicting interpretations of pathogenicity
(May 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:22272496
- GRCh38:
- Chr11:22250950
| ANO5 | | Autosomal recessive limb-girdle muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2L,
Gnathodiaphyseal dysplasia | Pathogenic/Likely pathogenic
(Jan 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42693865
- GRCh38:
- Chr15:42401667
| CAPN3 | R461C, R413C | Autosomal recessive limb-girdle muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Pathogenic/Likely pathogenic
(May 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52896002
- GRCh38:
- Chr4:52029836
| SGCB | R91C | Autosomal recessive limb-girdle muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2E,
Inborn genetic diseases | Pathogenic/Likely pathogenic
(Dec 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:71797815
- GRCh38:
- Chr2:71570685
| DYSF | R1040W, R1058W, R1026W, R1027W, R1057W, R1041W, R1071W, R1072W | not provided, Autosomal recessive limb-girdle muscular dystrophy, Qualitative or quantitative defects of dysferlin
| Pathogenic/Likely pathogenic
(Jun 13, 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:
- Chr2:71900503
- GRCh38:
- Chr2:71673373
| DYSF, LOC110121121 | | Autosomal recessive limb-girdle muscular dystrophy, Qualitative or quantitative defects of dysferlin, not provided
| Pathogenic
(Jan 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42681133
- GRCh38:
- Chr15:42388935
| CAPN3 | G214S | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A, not provided
| Conflicting interpretations of pathogenicity
(Dec 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:71906323
- GRCh38:
- Chr2:71679193
| DYSF | W1968*, W2007*, W1954*, W1955*, W1969*, W1989*, W1990*, W1975*, W1986*, W2000*, W1985*, W1999*, W1976*, W2006* | Autosomal recessive limb-girdle muscular dystrophy, not provided, Qualitative or quantitative defects of dysferlin
| Pathogenic/Likely pathogenic
(Dec 21, 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 |
| - GRCh37:
- Chr4:52904403-52904404
- GRCh38:
- Chr4:52038237-52038238
| SGCB | A8fs | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy, not provided
| Conflicting interpretations of pathogenicity
(Oct 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42686494
- GRCh38:
- Chr15:42394296
| CAPN3 | R357Q, R309Q | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
| Conflicting interpretations of pathogenicity
(May 21, 2022) | criteria provided, conflicting interpretations |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2N | Likely pathogenic
(Dec 1, 2015) | criteria provided, single submitter |
| | | | Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset
| Likely pathogenic
(Aug 6, 2013) | criteria provided, single submitter |
| | | | Miyoshi muscular dystrophy 3, Autosomal recessive limb-girdle muscular dystrophy type 2L | Likely pathogenic
(Oct 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42704505
- GRCh38:
- Chr15:42412307
| CAPN3 | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Uncertain significance
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:48246482
- GRCh38:
- Chr17:50169121
| SGCA | P205H | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy, not provided
| Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - 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:
- Chr2:71894607
- GRCh38:
- Chr2:71667477
| DYSF | R1768W, R1807W, R1785W, R1769W, R1775W, R1800W, R1806W, R1754W, R1755W, R1790W, R1776W, R1786W, R1789W, R1799W | Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2B | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42691829
- GRCh38:
- Chr15:42399631
| CAPN3 | G445R, G397R | not provided, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Pathogenic/Likely pathogenic
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:23853496
- GRCh38:
- Chr13:23279357
| SGCG | | not provided, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2C
| Pathogenic/Likely pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:23778029
- GRCh38:
- Chr13:23203890
| SGCG | | not provided, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2C
| Pathogenic/Likely pathogenic
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:71901320
- GRCh38:
- Chr2:71674190
| DYSF | | Autosomal recessive limb-girdle muscular dystrophy, Qualitative or quantitative defects of dysferlin, not provided
| Pathogenic
(Jul 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42703106
- GRCh38:
- Chr15:42410908
| CAPN3 | Y763C, Y251C, Y757C, Y671C, Y98C | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
| Pathogenic/Likely pathogenic
(Mar 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42682214
- GRCh38:
- Chr15:42390016
| CAPN3 | R289W | Autosomal recessive limb-girdle muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A,
Abnormality of the musculature | Pathogenic/Likely pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42693989
- GRCh38:
- Chr15:42401791
| CAPN3 | I502T, I454T | not provided, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:42703123
- GRCh38:
- Chr15:42410925
| CAPN3 | R769W, R677W, R257W, R763W, R104W | not provided, See cases, Autosomal recessive limb-girdle muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2A | Pathogenic/Likely pathogenic
(Jul 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:71753464
- GRCh38:
- Chr2:71526334
| DYSF | D422N, D390N, D391N, D421N | Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy, not provided
| Pathogenic/Likely pathogenic
(Jun 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:22283684
- GRCh38:
- Chr11:22262138
| ANO5 | R547Q, R546Q | Autosomal recessive limb-girdle muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2L,
Gnathodiaphyseal dysplasia, ANO5-Related Disorders | Conflicting interpretations of pathogenicity
(Jul 26, 2023) | criteria provided, conflicting interpretations |
| - 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:
- Chr13:23894778
- GRCh38:
- Chr13:23320639
| SGCG | L194S, L212S | Autosomal recessive limb-girdle muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2C
| Pathogenic/Likely pathogenic
(Dec 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:48245867
- GRCh38:
- Chr17:50168506
| SGCA | L173P | not provided, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D
| Pathogenic/Likely pathogenic
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:48245879
- GRCh38:
- Chr17:50168518
| SGCA | S177fs | not provided, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D
| Pathogenic
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:46660532
- GRCh38:
- Chr1:46194860
| POMGNT1, TSPAN1 | | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscular dystrophy-dystroglycanopathy,
Autosomal recessive limb-girdle muscular dystrophy, Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3,
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, not provided
| Pathogenic
(Mar 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259605
- GRCh38:
- Chr19:46756348
| FKRP | V300M | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Autosomal recessive limb-girdle muscular dystrophy, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2Inot provided,
Autosomal recessive limb-girdle muscular dystrophy type 2I, ...see more | Conflicting interpretations of pathogenicity
(Apr 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:47259533
- Chr19:47258782-47258783
- Chr19:47258781
- GRCh38:
- Chr19:46756276
- Chr19:46755525-46755526
- Chr19:46755524
| FKRP, FKRP, FKRP | L276I, W26fs, S25* | Autosomal recessive limb-girdle muscular dystrophy type 2I | Likely pathogenic
(Dec 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:71892311
- GRCh38:
- Chr2:71665181
| DYSF | R1693W, R1732W, R1701W, R1724W, R1725W, R1679W, R1680W, R1700W, R1711W, R1731W, R1694W, R1715W, R1710W, R1714W | not provided, Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B,
Autosomal recessive limb-girdle muscular dystrophy | Pathogenic/Likely pathogenic
(Dec 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:71817411-71817412
- GRCh38:
- Chr2:71590281-71590282
| DYSF | | Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy,
not provided | Pathogenic
(Feb 20, 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:
- Chr15:42691681
- GRCh38:
- Chr15:42399483
| CAPN3 | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
| Pathogenic
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:71742790
- GRCh38:
- Chr2:71515660
| DYSF | G234E, G266E, G235E, G265E | Autosomal recessive limb-girdle muscular dystrophy, Qualitative or quantitative defects of dysferlin, not provided
| Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:71887715
- GRCh38:
- Chr2:71660585
| DYSF | I1607T, I1646T, I1628T, I1594T, I1624T, I1625T, I1629T, I1615T, I1645T, I1593T, I1614T, I1638T, I1639T, I1608T | Autosomal recessive limb-girdle muscular dystrophy, not specified, Qualitative or quantitative defects of dysferlin,
not provided, Miyoshi muscular dystrophy 1 | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:22239825
- GRCh38:
- Chr11:22218279
| ANO5 | R58W, R57W | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy,
not provided, Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2L,
Miyoshi muscular dystrophy 3 | Conflicting interpretations of pathogenicity
(Sep 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:71797738
- GRCh38:
- Chr2:71570608
| DYSF | Y1014C, Y1032C, Y1015C, Y1031C, Y1046C, Y1000C, Y1001C, Y1045C | Autosomal recessive limb-girdle muscular dystrophy, Qualitative or quantitative defects of dysferlin, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2B | Pathogenic/Likely pathogenic
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:71780240
- GRCh38:
- Chr2:71553110
| DYSF | G618R, G636R, G649R, G619R, G635R, G604R, G605R, G650R | Autosomal recessive limb-girdle muscular dystrophy, Qualitative or quantitative defects of dysferlin, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2B | Conflicting interpretations of pathogenicity
(May 12, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:134395537
- GRCh38:
- Chr9:131520150
| POMT1 | L436fs, L575fs, L499fs, L521fs, L401fs, L458fs, L523fs, L553fs, L549fs, L423fs, L480fs | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy, not provided | Pathogenic/Likely pathogenic
(Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42652148
- GRCh38:
- Chr15:42359950
| CAPN3 | R49C | not provided, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Pathogenic/Likely pathogenic
(Jan 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:48246607
- GRCh38:
- Chr17:50169246
| SGCA | V247M | Sarcoglycanopathy, See cases, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy | Pathogenic/Likely pathogenic
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259780
- GRCh38:
- Chr19:46756523
| FKRP | P358L | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy, not provided
| Conflicting interpretations of pathogenicity
(Mar 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:71896338
- GRCh38:
- Chr2:71669208
| DYSF | | Autosomal recessive limb-girdle muscular dystrophy, Qualitative or quantitative defects of dysferlin, not provided
| Pathogenic
(Nov 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42695154
- GRCh38:
- Chr15:42402956
| CAPN3 | G567W, G55W, G519W | Autosomal recessive limb-girdle muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2A
| Pathogenic
(Jan 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:77753158
- GRCh38:
- Chr14:77286815
| POMT2 | R421W | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2,
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2, Autosomal recessive limb-girdle muscular dystrophy type 2N, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2N | Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:77765840
- GRCh38:
- Chr14:77299497
| POMT2 | Y294C | Autosomal recessive limb-girdle muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2N
| Conflicting interpretations of pathogenicity
(Nov 10, 2022) | criteria provided, conflicting interpretations |