| | LOC111365169, LOC111365189 +833 more | Copy number gain | See cases | |
| | MIR6869, MIR6870 +828 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | LOC130065416, LOC130065417 +579 more | Copy number gain | See cases | |
| | LOC126862999, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130065426, LOC130065427 +87 more | Copy number gain | See cases | |
| | LOC130065574, LOC130065575 +950 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ISM1-related condition | |
| | | Microsatellite (inframe deletion) | ISM1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | ISM1-related condition | |
| | | Single nucleotide variant (nonsense) | ISM1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ISM1-related condition | |
| | | Single nucleotide variant (missense variant) | ISM1-related condition | |
| | | Single nucleotide variant (missense variant) | ISM1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | ISM1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | ISM1-related condition | |
| | | Single nucleotide variant (synonymous variant) | ISM1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | ISM1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ISM1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant) | ISM1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | ISM1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Microsatellite (intron variant) | TASP1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ESF1, LOC113939992 +8 more | Copy number gain | See cases | |
| | | Deletion | Developmental delay +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Suleiman-El-Hattab syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Suleiman-El-Hattab syndrome | |
| | | Single nucleotide variant (intron variant) | TASP1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | TASP1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Suleiman-El-Hattab syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant +1 more) | Suleiman-El-Hattab syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | TASP1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | TASP1-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Suleiman-El-Hattab syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Suleiman-El-Hattab syndrome | |
| | | Duplication (intron variant) | TASP1-related condition | |
| | | Duplication (intron variant) | TASP1-related condition | |
| | | Duplication (intron variant) | TASP1-related condition | |
| | | Insertion (intron variant) | Inborn genetic diseases | |
| | | Deletion (intron variant) | TASP1-related condition | |
| | | Deletion (intron variant) | TASP1-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | TASP1-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | Suleiman-El-Hattab syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | TASP1-related condition | |
| | ESF1, LOC113939992 +5 more | Copy number gain | See cases | |