| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932646, LOC129932647 +967 more | Copy number gain | See cases | |
| | LOC129932948, LOC129932949 +954 more | Copy number gain | See cases | |
| | LOC129932666, LOC129932667 +954 more | Copy number gain | See cases | |
| | LOC128772241, LOC128772242 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932613, LOC129932614 +949 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932859, LOC129932860 +869 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932775, LOC129932776 +655 more | Copy number gain | See cases | |
| | GALNT2, LINC01682 +17 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | GALNT2, LOC129932743 (S25A) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | GALNT2, LOC129932743 (A30V) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | GALNT2, LOC129932743 (A32S) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | GALNT2, LOC129932743 (G33R) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | GALNT2, LOC129932743 (G40R) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (nonsense) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (intron variant) | GALNT2-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | GALNT2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation, type iit +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type iit +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | GALNT2-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | GALNT2-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | GALNT2-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | GALNT2-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |