| - GRCh37:
- Chr1:46658636
- GRCh38:
- Chr1:46192964
| TSPAN1, POMGNT1 | | Limb-girdle muscular dystrophy | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr19:47259312
- GRCh38:
- Chr19:46756055
| FKRP | L202P | Limb-girdle muscular dystrophy | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr5:74655817
- GRCh38:
- Chr5:75359992
| HMGCR | G769D, G822D | Limb-girdle muscular dystrophy | Pathogenic
(Dec 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:51089908
- GRCh38:
- Chr14:50623190
| ATL1 | A354V | Limb-girdle muscular dystrophy | Uncertain significance
(Dec 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:42681154
- GRCh38:
- Chr15:42388956
| CAPN3 | G221C | Limb-girdle muscular dystrophy, Abnormality of the musculature | Pathogenic/Likely pathogenic
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:42682196
- GRCh38:
- Chr15:42389998
| CAPN3 | M283V | Autosomal recessive limb-girdle muscular dystrophy type 2A, Limb-girdle muscular dystrophy | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:22248879
- GRCh38:
- Chr11:22227333
| ANO5 | K131M, K132M | Limb-girdle muscular dystrophy, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
| Conflicting interpretations of pathogenicity
(Apr 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:105577343
- GRCh38:
- Chr6:105129468
| BVES | R88* | not provided, Limb-girdle muscular dystrophy | Pathogenic/Likely pathogenic
(Jan 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179439128
- GRCh38:
- Chr2:178574401
| TTN, TTN-AS1 | K22270E, K23911E, K14846E, K14971E, K21343E, K15038E | not provided | Uncertain significance
(Oct 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:119460712
- GRCh38:
- Chr9:116698433
| ASTN2, TRIM32 | A231fs | Limb-girdle muscular dystrophy, not provided | Pathogenic/Likely pathogenic
(Jul 31, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:184603963
- GRCh38:
- Chr4:183682810
| TRAPPC11 | R398* | Limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type R18 | Pathogenic/Likely pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179397982
- GRCh38:
- Chr2:178533255
| TTN, TTN-AS1 | E25514fs, E25581fs, E32813fs, E25389fs, E31886fs, E34454fs | Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Limb-girdle muscular dystrophy,
Muscular dystrophy, Decreased patellar reflex, Proximal lower limb amyotrophy,
Waddling gait, not provided, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy 9, Primary dilated cardiomyopathyLeft ventricular noncompaction cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, ...see more | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - 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:
- 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:
- Chr2:179392218
- GRCh38:
- Chr2:178527491
| TTN, TTN-AS1 | Q34238*, Q35879*, Q27006*, Q33311*, Q26814*, Q26939* | TTN-related myopathy, TTN-Related Disorders, not provided,
Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Lower limb muscle weakness, Limb-girdle muscle weakness,
Limb-girdle muscle atrophy, Waddling gaitLimb-girdle muscular dystrophy,
Muscular dystrophy, Decreased patellar reflex, Proximal lower limb amyotrophy,
...see more | Conflicting interpretations of pathogenicity
(Jan 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:22301090
- GRCh38:
- Chr11:22279544
| ANO5 | H841D, H840D | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Disorders,
not provided, Limb-girdle muscular dystrophy | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179482937
- GRCh38:
- Chr2:178618210
| TTN, TTN-AS1 | V15750I, V13182I, V14109I, V6685I, V6810I, V6877I | Cardiovascular phenotype, not specified, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, not provided, Cardiomyopathy,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy ...see more | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8787313
- GRCh38:
- Chr3:8745627
| CAV3, OXTR | C72W | Cardiovascular phenotype, Long QT syndrome, not provided,
not specified, Limb-girdle muscular dystrophy, Caveolinopathy,
Cardiomyopathy, Long QT syndrome 1 | Conflicting interpretations of pathogenicity
(Aug 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:8787263
- GRCh38:
- Chr3:8745577
| CAV3, OXTR | G56S | Long QT syndrome 9, Hypertrophic cardiomyopathy 1, Distal myopathy, Tateyama type,
Rippling muscle disease 2, Elevated circulating creatine kinase concentration, Cardiovascular phenotype,
Limb-Girdle Muscular Dystrophy, Dominant, Long QT syndrome, not specified,
Limb-girdle muscular dystrophy, CardiomyopathyCaveolinopathy,
not provided, Long QT syndrome 1, ...see more | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47259533
- GRCh38:
- Chr19:46756276
| FKRP | L276I | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5,
Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Limb-girdle muscular dystrophy,
Autosomal recessive limb-girdle 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 2Inot provided,
Muscular dystrophy-dystroglycanopathy type B5, Myopathy, Muscular dystrophy-dystroglycanopathy,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Scapular winging,
Gait imbalance, Headache, Muscle weakness,
Difficulty standing, Difficulty climbing stairs, Paresthesia,
Difficulty walking, ...see more | Pathogenic/Likely pathogenic
(Aug 25, 2023) | criteria provided, multiple submitters, no conflicts |