| | | Single nucleotide variant (synonymous variant +1 more) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | COG8, LOC130059304 (R600* +2 more) | Single nucleotide variant (nonsense +1 more) | COG8-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COG8, LOC130059304 (Q568K +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 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) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | COG8-congenital disorder of glycosylation | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron 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 | |
| | COG8, LOC130059304 (P606R +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | COG8-congenital disorder of glycosylation | |
| | COG8, LOC130059304 (R613Q +2 more) | Single nucleotide variant (missense variant +1 more) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG8-congenital disorder of glycosylation | |
| | COG8, LOC130059305 (R102C) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | COG8-congenital disorder of glycosylation | |
| | COG8, LOC130059304 (P572H +2 more) | Single nucleotide variant (missense variant +1 more) | COG8-congenital disorder of glycosylation | |
| | COG8, LOC130059304 (G598E +2 more) | Single nucleotide variant (missense variant +1 more) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | COG8-congenital disorder of glycosylation | |
| | COG8, LOC130059304 (E632D +2 more) | Single nucleotide variant (missense variant +1 more) | COG8-congenital disorder of glycosylation | |
| | COG8, LOC130059304 (T603A +2 more) | Single nucleotide variant (missense variant +1 more) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense +1 more) | COG8-congenital disorder of glycosylation | |
| | COG8, LOC130059304 (E607fs +2 more) | Microsatellite (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | COG8, LOC130059305 (L103Q) | Single nucleotide variant (missense variant) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense +1 more) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG8-congenital disorder of glycosylation | |
| | COG8, LOC130059304 (T575I) | Single nucleotide variant (missense variant) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | LOC130059304, COG8 (P612fs) | Duplication (frameshift variant) | COG8-congenital disorder of glycosylation | |
| | COG8, LOC130059304 (P581T +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Deletion (intron variant) | not specified | |
| | | Deletion (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | COG8-congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | COG8-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | COG8-congenital disorder of glycosylation | |
| | | Duplication (3 prime UTR variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | COG8-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | COG8-congenital disorder of glycosylation | |
| | COG8, LOC130059304 (T561M +2 more) | Single nucleotide variant (missense variant +1 more) | COG8-related condition +3 more | GConflicting classifications of pathogenicity |
| | COG8, LOC130059304 (F563fs +2 more) | Deletion (frameshift variant +1 more) | COG8-related condition +1 more | |