| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390375, LOC129390376 +764 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130006854, LOC130006855 +499 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007028, LOC130007029 +608 more | Duplication | Schizophrenia | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390377, LOC129390378 +488 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130007011, LOC130007012 +440 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130007071, LOC130007072 +363 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC112061823, LOC112067710 +352 more | Copy number loss | See cases | |
| | TMEM218, TMEM45B +343 more | Copy number loss | See cases | |
| | LOC130007029, LOC130007030 +312 more | 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 | |
| | LOC121392949, LOC121392950 +261 more | Copy number loss | See cases | |
| | DCPS, LOC130007028 +1 more (P6L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DCPS, LOC130007028 +1 more (G9R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130007028, TIRAP-AS1 +1 more (E14G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DCPS, LOC130007028 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Al-Raqad syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Al-Raqad syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Al-Raqad syndrome | |
| | | Microsatellite (inframe_insertion) | Al-Raqad syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Al-Raqad syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Al-Raqad syndrome | |
| | | Single nucleotide variant (missense variant) | Al-Raqad syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Al-Raqad syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Al-Raqad syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Al-Raqad syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Al-Raqad syndrome | |
| | | Single nucleotide variant (intron variant) | DCPS-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GSEC, DCPS (R224C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | DCPS, GSEC (G226D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | GSEC, DCPS (R238C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DCPS, GSEC (P242L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | DCPS-related condition +1 more | |
| | DCPS, GSEC (R242G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DCPS, GSEC (R257W +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | DCPS, GSEC (R264L +1 more) | Single nucleotide variant (missense variant) | Al-Raqad syndrome | |
| | DCPS, GSEC (R264Q +1 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | DCPS-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DCPS, GSEC (E286* +1 more) | Single nucleotide variant (nonsense) | Al-Raqad syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DCPS, GSEC (G289S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DCPS, GSEC (S290A +1 more) | Single nucleotide variant (missense variant) | DCPS-related condition +1 more | |
| | DCPS, GSEC (R294W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DCPS, GSEC (E306D +1 more) | Single nucleotide variant (missense variant) | Al-Raqad syndrome | |
| | DCPS, GSEC (T316M +1 more) | Single nucleotide variant (missense variant) | Al-Raqad syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DCPS, GSEC (L327fs +1 more) | Deletion (frameshift variant) | not provided | |
| | GSEC, DCPS (P333R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | DCPS-related condition +1 more | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |