| | LOC124210612, LOC124210613 +3786 more | Copy number gain | See cases | |
| | LOC121331326, LOC121331327 +3785 more | Copy number gain | See cases | |
| | LOC126860737, LOC126860738 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121197, LOC110121234 +3786 more | Copy number gain | See cases | |
| | LOC121331342, LOC121331343 +3786 more | Copy number gain | See cases | |
| | LOC113839542, LOC113839543 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002189, LOC130002190 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089736, LOC132089737 +313 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC124310599, LOC124310600 +94 more | Copy number loss | Gorlin syndrome | |
| | LOC130002205, LOC130002206 +417 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | SLC35D2, SLC35D2-HSD17B3 (S231R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (T258P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (M167I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (F164L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (Q243R) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (V238I) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (T230A) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (M212T) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SLC35D2-HSD17B3, SLC35D2 (M194V) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (Y173S) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (S150R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (P118L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (N104K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (Y101C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (Y101N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SLC35D2, SLC35D2-HSD17B3 (P96A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130002147, SLC35D2 +1 more (Y52C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130002147, SLC35D2 +1 more (K46R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130002147, SLC35D2 +1 more (K46E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130002147, SLC35D2 +1 more (N45S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130002147, SLC35D2 +1 more (T36N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130002147, SLC35D2 +1 more (G11D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Distal tetrasomy 15q | |
| | | Copy number gain | not specified | |
| | ANKRD18A, ANKRD18B +768 more | Copy number gain | not specified | |
| | | Copy number loss | Gorlin syndrome | |
| | | Deletion | Intellectual disability | |
| | | Copy number loss | See cases | |
| | | Inversion | Abnormal chromosome morphology +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Seizure +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |