| | | Copy number gain | See cases | |
| | MIR636, MIR6516 +1033 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (G305E) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (H323Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | COG1, LOC126862634 (H323N) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (S327F) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (V329I) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (E330K) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (R336*) | Single nucleotide variant (nonsense) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (T350M) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (M357I) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (N364fs) | Deletion (frameshift variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (N368D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COG1, LOC126862634 (L370F) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (V373M) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | COG1, LOC126862634 (K377fs) | Deletion (frameshift variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (G378R) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation +2 more | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (A380V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (R383Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (A385T) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (M386T) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (N392S) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | COG1, LOC126862634 (T395P) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (C403R) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | COG1 congenital disorder of glycosylation | |
| | COG1, LOC126862634 (E415Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | COG1, LOC126862634 (D416Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COG1, LOC126862634 (M417V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COG1, LOC126862634 (R425Q) | Single nucleotide variant (missense variant) | COG1 congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |