| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935070, LOC129935071 +162 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | West syndrome | |
| | B3GALT1, LOC122847309 +4 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | B3GALT1, B3GALT1-AS1 (S31P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GALT1, B3GALT1-AS1 (L41V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GALT1-AS1, B3GALT1 (L41I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GALT1-AS1, B3GALT1 (T55S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GALT1-AS1, B3GALT1 (L117F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GALT1, B3GALT1-AS1 (P124S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GALT1, B3GALT1-AS1 (V130L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GALT1, B3GALT1-AS1 (F181fs) | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | B3GALT1, B3GALT1-AS1 (D185N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GALT1, B3GALT1-AS1 (N286S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | 2q24 microdeletion syndrome | |
| | | Copy number loss | 2q24 microdeletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |