| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Microcephalic osteodysplastic dysplasia, Saul-Wilson type +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | COG4-congenital disorder of glycosylation +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | COG4-congenital disorder of glycosylation +3 more | |
Click to view in NCBI Gene