| | | Single nucleotide variant (5 prime UTR variant) | B4GALT1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | B4GALT1-related disorder | |
| | B4GALT1, B4GALT1-AS1 (L38F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B4GALT1, B4GALT1-AS1 (A17V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B4GALT1, B4GALT1-AS1 (G10C) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | B4GALT1, B4GALT1-AS1 (R4W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | B4GALT1, B4GALT1-AS1 (R8W) | Single nucleotide variant (missense variant) | B4GALT1-congenital disorder of glycosylation | |
| | B4GALT1, B4GALT1-AS1 (R2T) | Single nucleotide variant (missense variant) | B4GALT1-congenital disorder of glycosylation +1 more | |
| | B4GALT1, B4GALT1-AS1 (S9R) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | B4GALT1, B4GALT1-AS1 (S48N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |