| | COG5, HBP1 (S511L +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | COG5, HBP1 (Q513H +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | COG5, HBP1 (H514Y +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | COG5-congenital disorder of glycosylation +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | COG5-congenital disorder of glycosylation +2 more | |
| | COG5, LOC129389837 (R307G +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COG5, LOC129389837 (Q296L +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COG5, LOC129389837 (A478G +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Indel (frameshift variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion (intron variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +2 more | |
| | | Single nucleotide variant (missense variant) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | COG5-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |