| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Scapulohumeral muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | SMCHD1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (intron variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Deletion (frameshift variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (splice donor variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (intron variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (intron variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (intron variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Deletion (intron variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (intron variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (nonsense) | Facioscapulohumeral muscular dystrophy 2 | |