| - GRCh37:
- Chr6:129612841
- GRCh38:
- Chr6:129291696
| LAMA2 | G945fs | Congenital muscular dystrophy | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr21:47552450-47552453
- GRCh38:
- Chr21:46132536-46132539
| COL6A2 | | Congenital muscular dystrophy | Uncertain significance
(Aug 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:129722383
- GRCh38:
- Chr6:129401238
| LAMA2 | V1821fs | Congenital muscular dystrophy | Likely pathogenic | no assertion criteria provided |
| | | | Congenital muscular dystrophy | Likely pathogenic
(Dec 1, 2015) | criteria provided, single submitter |
| | | | Congenital muscular dystrophy | Likely pathogenic
(Dec 1, 2015) | criteria provided, single submitter |
| | | | Congenital muscular dystrophy | Likely pathogenic
(Dec 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:156084839
- GRCh38:
- Chr1:156115048
| LMNA | V44F | Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy | Conflicting interpretations of pathogenicity
(Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:38939038
- GRCh38:
- Chr19:38448398
| RYR1 | R282W | Congenital muscular dystrophy, Myopathy, Respiratory insufficiency,
not specified, not provided | Conflicting interpretations of pathogenicity
(Jun 3, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:38942467
- GRCh38:
- Chr19:38451827
| RYR1 | E396K | Respiratory insufficiency, Congenital muscular dystrophy, Myopathy
| Likely pathogenic
(May 21, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr19:39075649
- GRCh38:
- Chr19:38585009
| RYR1 | P4905T, P4900T | EMG: myopathic abnormalities, Congenital hip dislocation, Congenital muscular dystrophy,
Generalized muscle weakness | Uncertain significance
(Nov 14, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr2:152506759
- GRCh38:
- Chr2:151650245
| NEB | N2454K | Nemaline myopathy 2, Congenital muscular dystrophy, Muscle weakness
| Uncertain significance
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179400321-179400322
- GRCh38:
- Chr2:178535594-178535595
| TTN-AS1, TTN | R32033fs, R33674fs, R24734fs, R31106fs, R24609fs, R24801fs | Distal muscle weakness, Congenital muscular dystrophy, Scoliosis,
Broad-based gait, Heart murmur, Severe muscular hypotonia,
Gowers sign, Delayed gross motor development, not provided
| Pathogenic/Likely pathogenic
(Feb 19, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30058726-30058727
- GRCh38:
- Chr7:30019110-30019111
| FKBP14, FKBP14-AS1 | E122fs | Inborn genetic diseases, Cardiovascular phenotype, not provided,
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | Pathogenic/Likely pathogenic
(Sep 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:152346522
- GRCh38:
- Chr2:151490008
| NEB, RIF1 | T8491M, T6600M, T8456M | not specified, not provided, Nemaline myopathy 2,
Muscle weakness, Congenital muscular dystrophy | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:77787068-77787071
- GRCh38:
- Chr14:77320725-77320728
| LOC130056177, POMT2 | | Limb-Girdle Muscular Dystrophy, Recessive, Congenital muscular dystrophy | Conflicting interpretations of pathogenicity
(Jun 14, 2016) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:134394787-134394788
- GRCh38:
- Chr9:131519400-131519401
| POMT1 | | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy,
not provided, Congenital muscular dystrophy | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156108511
- GRCh38:
- Chr1:156138720
| LMNA | R532H, R614H, R644H | Cardiovascular phenotype, not specified, Charcot-Marie-Tooth disease type 2,
not provided, Cardiomyopathy, Lethal tight skin contracture syndrome
| Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:134381487-134381488
- GRCh38:
- Chr9:131506100-131506101
| POMT1 | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1,
Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, not specified, Congenital muscular dystrophy
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39057626
- GRCh38:
- Chr19:38566986
| RYR1 | D4505H, D4500H | Malignant hyperthermia, susceptibility to, 1 | Benign
(Mar 17, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr15:42680001
- GRCh38:
- Chr15:42387803
| CAPN3 | T184fs | Muscular dystrophy, limb-girdle, autosomal dominant 4, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle, autosomal dominant 4,
CAPN3-Related Disorders, Limb-Girdle Muscular Dystrophy, Recessive, EMG: myopathic abnormalities,
Shoulder girdle muscle weakness, Muscular dystrophy, Myopathy,
Absent Achilles reflex, Muscle weaknessProgressive spinal muscular atrophy,
EMG: neuropathic changes, Paresthesia, Difficulty walking,
Elevated circulating creatine kinase concentration, Positive Romberg sign, Migraine,
Absent muscle fiber calpain-3, not provided, Congenital muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, Shoulder girdle muscle weakness,
Limb-girdle muscle weakness, Cardiac arrhythmia, Muscular dystrophy,
Elbow flexion contracture, Lower-limb joint contracture, Muscle weakness,
See cases, ...see more | Pathogenic
(Aug 11, 2023) | criteria provided, multiple submitters, no conflicts |