| | LOC130061805, LOC130061806 +1033 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ST6GALNAC1 (G594R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (R590S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (D568G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (I565T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (Y554C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (Y421C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (E412K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (T543N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (R386H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (S506C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (A350T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (V433M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (L423I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (A283T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (G412S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (G394R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (G239R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (R361W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (L218M +1 more) | Single nucleotide variant (missense variant +1 more) | ST6GALNAC1-related condition | |
| | ST6GALNAC1 (V207M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (P192R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (S181N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (E139K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (R261Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (V219M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (Q216E +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ST6GALNAC1 (S177Y +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ST6GALNAC1, MGAT5B +10 more | 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 gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TNFSF12, TNFSF12-TNFSF13 +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |