Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Myopathy, congenital, with tremor +3 more | |
| | | Single nucleotide variant (intron variant) | Myopathy, congenital, with tremor +3 more | |
| | | Single nucleotide variant (intron variant) | Myopathy, congenital, with tremor +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lethal congenital contracture syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Arthrogryposis, distal, type 1B +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Deletion (intron variant) | Myopathy, congenital, with tremor +4 more | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis, distal, type 1B +4 more | |
| | | Single nucleotide variant (synonymous variant) | Myopathy, congenital, with tremor +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Myopathy, congenital, with tremor +1 more | GConflicting classifications of pathogenicity |
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