Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease X-linked recessive 5 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hearing loss, X-linked 1 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +7 more | |
| | | Duplication (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 5 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease X-linked recessive 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 5 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hearing loss, X-linked 1 +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease X-linked recessive 5 | |
Click to view in NCBI Gene