Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital cataracts-facial dysmorphism-neuropathy syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital cataracts-facial dysmorphism-neuropathy syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital cataracts-facial dysmorphism-neuropathy syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital cataracts-facial dysmorphism-neuropathy syndrome | |
| | | Duplication (intron variant) | Congenital cataracts-facial dysmorphism-neuropathy syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital cataracts-facial dysmorphism-neuropathy syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital cataracts-facial dysmorphism-neuropathy syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
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