| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ZNF664, ZNF664-RFLNA +786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009168, LOC130009169 +408 more | Copy number gain | See cases | |
| | ADGRD1, ADGRD1-AS1 +266 more | Copy number gain | See cases | |
| | LOC121838570, LOC124849284 +16 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-related condition | |
| | | Duplication (intron variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (intron variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-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) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | PIWIL1-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 (synonymous variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | PIWIL1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PIWIL1, RIMBP2 (V1064I +3 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | PIWIL1, RIMBP2 (E1022D +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PIWIL1, RIMBP2 (D1010N +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PIWIL1, RIMBP2 (I1002V +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PIWIL1, RIMBP2 (G983A +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PIWIL1, RIMBP2 (T943I +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PIWIL1, RIMBP2 (E1231K +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PIWIL1, RIMBP2 (R913C +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | RIMBP2, PIWIL1 (P866L +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PIWIL1, RIMBP2 (R792Q +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |