| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | COG6-congenital disorder of glycosylation +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | COG6-congenital disorder of glycosylation +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | COG6-congenital disorder of glycosylation +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +2 more | |
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