| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | LOC121366022, LOC124310633 +99 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003073, LOC130003074 +1268 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | OR1J2, OR1L8 +1 more (E26K) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (H57Y) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (M84L) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (S96L) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (Y123C) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (R125C) | Single nucleotide variant (missense variant) | not provided | |
| | OR1J2, OR1L8 +1 more (R168H) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (V169M) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (C172W) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (H179R) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (Y181H) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (Y181S) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (K189R) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (L190P) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (S242Y) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (M282I) | Single nucleotide variant (missense variant) | not specified | |
| | OR1J2, OR1L8 +1 more (L288V) | 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 | |
| | | 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 | |
| | | 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 loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 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 | Hypotonia +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPTL2, ANKRD18A +771 more | Copy number gain | See cases | |