| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | COG6-ongenital disorder of glycosylation +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | COG6-ongenital disorder of glycosylation +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | COG6-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene