Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Deletion (intron variant) | Leukoencephalopathy, progressive, infantile-onset, with or without deafness +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease recessive intermediate B +2 more | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth disease recessive intermediate B | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 89 +5 more | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal recessive +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | not specified +1 more | |
| | | Duplication (frameshift variant +1 more) | Charcot-Marie-Tooth disease recessive intermediate B | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease recessive intermediate B | |
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