| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 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 | |
| | LOC130002205, LOC130002206 +417 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860732, LOC126860733 +514 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | PGAP4, TMEM246-AS1 (R395W) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (V385L) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (V354L) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (A343V) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (R317W) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (R261Q) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (R229Q) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (D174Y) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (K156Q) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (Q124K) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (H116R) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (I107V) | Single nucleotide variant (missense variant) | not specified | |
| | PGAP4, TMEM246-AS1 (P100L) | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Deletion | Hereditary fructosuria | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Distal tetrasomy 15q | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | MSANTD3, MSANTD3-TMEFF1 +87 more | Copy number loss | Gorlin syndrome | |
| | | Copy number gain | not provided | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ANGPTL2, ANKRD18A +771 more | Copy number gain | See cases | |