Links from MedGen
Items: 17
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (intron variant) | Polyneuropathy | |
| | | Single nucleotide variant (missense variant) | Polyneuropathy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Polyneuropathy | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +4 more | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 7 | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Polyneuropathy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | ERCC5, BIVM-ERCC5 (L977fs +1 more) | Microsatellite (frameshift variant) | Pes cavus +7 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome +9 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene