| - GRCh37:
- Chr21:47536692
- GRCh38:
- Chr21:46116778
| COL6A2 | G322fs | Proximal muscle weakness | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:32381106-32381794
- GRCh38:
- ChrX:32362989-32363677
| DMD | | Proximal muscle weakness, Highly elevated creatine kinase | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr21:47410322-47410330
- GRCh38:
- Chr21:45990408-45990416
| COL6A1 | | Proximal muscle weakness | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:48245816
- GRCh38:
- Chr17:50168455
| SGCA | R156H | Autosomal recessive limb-girdle muscular dystrophy type 2D | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:129618829
- GRCh38:
- Chr6:129297684
| LAMA2 | | Proximal muscle weakness | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:11880695
- GRCh38:
- Chr3:11839221
| TAMM41 | | Combined oxidative phosphorylation deficiency 56, Abnormal facial shape, Neonatal hypotonia,
Bilateral ptosis, Ankle flexion contracture, Proximal muscle weakness
| Pathogenic
(Nov 27, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr3:11885565
- GRCh38:
- Chr3:11844091
| TAMM41 | S45P, S86P | Combined oxidative phosphorylation deficiency 56, Ankle flexion contracture, Neonatal hypotonia,
Abnormal facial shape, Bilateral ptosis, Proximal muscle weakness
| Pathogenic
(Nov 27, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:156105993-156106017
- GRCh38:
- Chr1:156136202-156136226
| LMNA | | Proximal muscle weakness | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr9:94874785-94874787
- GRCh38:
- Chr9:92112503-92112505
| SPTLC1 | L39del | Falls, Proximal lower limb amyotrophy, Muscle spasm,
EMG abnormality, Proximal muscle weakness, not provided,
Neuropathy, hereditary sensory and autonomic, type 1A, Hereditary sensory and autonomic neuropathy type 1 | Pathogenic/Likely pathogenic
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:23777997
- GRCh38:
- Chr13:23203858
| SGCG | I55S, I73S | Proximal muscle weakness | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:98155061
- GRCh38:
- Chr10:96395304
| TLL2 | H537Y | Tongue fasciculations, Proximal amyotrophy, EMG: neuropathic changes,
Spinal muscular atrophy, Hand tremor, Proximal muscle weakness,
Skeletal muscle atrophy | Uncertain significance
(Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:98273331
- GRCh38:
- Chr10:96513574
| TLL2 | E38Q | Tongue fasciculations, Proximal amyotrophy, EMG: neuropathic changes,
Spinal muscular atrophy, Hand tremor, Proximal muscle weakness,
Skeletal muscle atrophy | Uncertain significance
(Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:22020207
- GRCh38:
- Chr8:22162694
| SFTPC | L55F | Myopathy, Proximal muscle weakness in upper limbs, Infantile axial hypotonia,
Generalized hypotonia, Neonatal hypotonia, Restrictive ventilatory defect,
Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness, Skeletal myopathy,
Pulmonary alveolar proteinosis, Abnormal pulmonary interstitial morphologyCongenital peripheral neuropathy,
Proximal muscle weakness, Respiratory distress, ...see more | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:38959759
- GRCh38:
- Chr19:38469119
| RYR1 | R1179W | RYR1-Related Disorders, not provided, not specified,
Scoliosis, Pelvic girdle muscle weakness, Delayed gross motor development,
Proximal muscle weakness, Progressive distal muscle weakness | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:157159199
- GRCh38:
- Chr7:157366505
| DNAJB6 | K60R | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Muscle weakness, Proximal muscle weakness
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:71887719
- GRCh38:
- Chr2:71660587
| DYSF | K1595fs, K1616fs, K1626fs, K1631fs, K1641fs, K1609fs, K1610fs, K1617fs, K1596fs, K1627fs, K1630fs, K1648fs, K1640fs, K1647fs | Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B | Pathogenic
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39025415
- GRCh38:
- Chr19:38534775
| RYR1 | R3772Q, R3767Q | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(Apr 6, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr2:220283591
- GRCh38:
- Chr2:219418869
| DES | L136H | Myopathy, Neonatal respiratory distress, Restrictive ventilatory defect,
Congenital peripheral neuropathy, Proximal muscle weakness, Abnormal pulmonary interstitial morphology,
Generalized hypotonia, Neonatal hypotonia, Skeletal myopathy,
Pulmonary alveolar proteinosis, Proximal muscle weakness in upper limbsInfantile axial hypotonia,
Respiratory insufficiency due to muscle weakness, Respiratory distress, Cardiovascular phenotype,
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, not specified, not provided,
Cardiomyopathy, ...see more | Uncertain significance
(Jun 29, 2023) | criteria provided, multiple submitters, no conflicts |