Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | CCDC115-CDG | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | | Congenital disorders of glycosylation type II | |
| | | Single nucleotide variant (missense variant +2 more) | CCDC115-CDG +1 more | |
| | CCDC115, LOC129934769 (D11Y) | Single nucleotide variant (missense variant +2 more) | Congenital disorders of glycosylation type II +1 more | |
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