| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | HTR2B, PSMD1 (G286A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (K311T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (E277K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (K211R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | HTR2B, PSMD1 (V287L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (P256S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (R111H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (F138S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (M43V +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | HTR2B, PSMD1 (R376Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (I373F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (L81P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (P109T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (R411C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (E428D +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (N318K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (R127W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (S245F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (E272G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (V61A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (G309R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (T463K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HTR2B, PSMD1 (P80T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | Perlman syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | HTR2B, PSMD1 (M379V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | HTR2B, PSMD1 (G9E +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | HTR2B, PSMD1 (V166L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | HTR2B, PSMD1 (I155V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | HTR2B, PSMD1 (K246* +1 more) | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome | |
| | LOC110120629, LOC110120691 +986 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806558, LOC126806559 +309 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132088828, LOC132088829 +576 more | Copy number gain | See cases | |
| | LOC129935966, LOC129935967 +630 more | Copy number gain | See cases | |
| | LOC129935726, LOC129935727 +1665 more | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935713, LOC129935714 +1299 more | Copy number gain | See cases | |