| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932493, LOC129932494 +1325 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932930, LOC129932931 +967 more | Copy number gain | See cases | |
| | LOC129932702, LOC129932703 +954 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932675, LOC129932676 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806063, LOC126806064 +378 more | Copy number loss | See cases | |
| | | Copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | LOC129932908, LOC129932909 +270 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | SNORA100, SPMIP3 +274 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | LOC128598893, LOC128598894 +273 more | Copy number gain | See cases | |
| | LOC122152349, LOC122152350 +272 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932970, LOC129932971 +253 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | LOC122152353, PLD5 +15 more | Deletion | Senior-Loken syndrome 7 +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC122152355, LOC122152356 +230 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | CEP170, LOC122152351 +4 more | Copy number loss | See cases | |
| | LINC01743, LINC02774 +235 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | SDCCAG8-related condition +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | SDCCAG8-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Duplication (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Duplication (splice donor variant) | SDCCAG8-Related Disorders | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | SDCCAG8-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Microsatellite (intron variant) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | See cases | |
| | AKT3, LOC110120698 +7 more | Copy number loss | See cases | |
| | AKT3, LOC122152351 +6 more | Copy number loss | See cases | |
| | AKT3, LOC122152351 +5 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Deletion (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Deletion (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Senior-Loken syndrome 7 +1 more | |