Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (nonsense) | Spondylometaphyseal dysplasia, Kozlowski type +10 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +12 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +12 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Maroteaux type +12 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Maroteaux type +11 more | |
| | | Single nucleotide variant (missense variant) | Parastremmatic dwarfism +11 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Sodium serum level quantitative trait locus 1 +14 more | |
| | | Single nucleotide variant (missense variant) | Familial digital arthropathy-brachydactyly +11 more | |
| | | Single nucleotide variant (intron variant) | Brachyrachia (short spine dysplasia) +13 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial digital arthropathy-brachydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Familial digital arthropathy-brachydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Familial digital arthropathy-brachydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | TRPV4-related bone disorder +14 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene