| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | COG8, LOC130059304 (P581T +2 more) | Single nucleotide variant (missense variant +1 more) | COG8-congenital disorder of glycosylation +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | COG8-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | COG8-congenital disorder of glycosylation +1 more | |
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