| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, SAP30L-AS1 (Q585E) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, SAP30L-AS1 (R359H) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | GALNT10-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, SAP30L-AS1 (A526T) | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, SAP30L-AS1 (R492H) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, SAP30L-AS1 (H557Y) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, SAP30L-AS1 (T592A) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, SAP30L-AS1 (V453M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, SAP30L-AS1 (N601S) | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, SAP30L-AS1 (R490P) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, LOC129995072 (A45G) | Single nucleotide variant (missense variant) | not specified | |
| | GALNT10, SAP30L-AS1 (R512Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Hunter-McAlpine craniosynostosis | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GALNT10, SAP30L-AS1 (R464Q) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | CDC25C, CDC42SE2 +385 more | Deletion | Hereditary cancer-predisposing syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |