Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | Trichothiodystrophy 8, nonphotosensitive | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Trichothiodystrophy 8, nonphotosensitive | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Duplication (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +8 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +5 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 29 +7 more | |
| | | Single nucleotide variant (intron variant) | not provided +7 more | |
Click to view in NCBI Gene