| | LOC130001767, LOC130001768 +1006 more | Copy number gain | See cases | |
| | LOC124210612, LOC124210613 +3786 more | Copy number gain | See cases | |
| | CDKN2B, CDKN2B-AS1 +1214 more | Copy number gain | See cases | |
| | LOC121331326, LOC121331327 +3785 more | Copy number gain | See cases | |
| | LOC126860737, LOC126860738 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001680, LOC130001681 +1062 more | Copy number gain | See cases | |
| | LOC124210611, LOC124210612 +1120 more | Copy number gain | See cases | |
| | LOC110121197, LOC110121234 +3786 more | Copy number gain | See cases | |
| | LOC121331342, LOC121331343 +3786 more | Copy number gain | See cases | |
| | LOC130001484, LOC130001485 +883 more | Copy number gain | See cases | |
| | LOC130001854, LOC130001855 +1367 more | Copy number gain | See cases | |
| | LOC113839542, LOC113839543 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001585, LOC130001586 +984 more | Copy number gain | See cases | |
| | LOC130001507, LOC130001508 +899 more | Copy number gain | See cases | |
| | LOC130001746, LOC130001747 +980 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002189, LOC130002190 +3786 more | Copy number gain | See cases | |
| | SPATA31F3, SPATA31G1 +898 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1B1, ANKRD18B +360 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Anauxetic dysplasia | |
| | PIGO-AS1, STOML2 (M309T +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | PIGO-AS1, STOML2 (D258N +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | PIGO-AS1, STOML2 (R259Q +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PIGO-AS1, STOML2 (R201W +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | PIGO-AS1, STOML2 (R152W +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PIGO-AS1, STOML2 (R123C +2 more) | Single nucleotide variant (intron variant +2 more) | not provided +1 more | |
| | PIGO-AS1, STOML2 (K94R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | PIGO-AS1, STOML2 (D70N +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | PIGO-AS1, STOML2 (E35D +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | PIGO-AS1, STOML2 (S32N +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130001695, PIGO-AS1 +1 more (R34Q) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | LOC130001696, PIGO-AS1 +1 more (T9I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | not provided | |
| | | Deletion | Spastic paraplegia | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Anauxetic dysplasia | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Syndromic anorectal malformation | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | Distal tetrasomy 15q | |
| | | Copy number gain | Bradycardia | |
| | | Copy number gain | Tetrasomy 9p | |
| | ANKRD18A, ANKRD18B +768 more | Copy number gain | not specified | |
| | SPATA31A5, SPATA31A6 +257 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | | Deletion | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Inversion | Abnormal chromosome morphology +1 more | |
| | ALDH1B1, ANKRD18A +74 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Complex | Glioma | |
| | | Duplication | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Deletion | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | CNTNAP3, CNTNAP3B +204 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus | |
| | | Duplication | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | 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 | |
| | | 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 | |
| | | Copy number gain | See cases | |