| | | Copy number gain | See cases | |
| | LOC130067011, LOC130067012 +535 more | Copy number gain | See cases | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +798 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130067137, LOC130067138 +823 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Schizophrenia | |
| | ADORA2A, ADORA2A-AS1 +163 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +163 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +163 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +163 more | Copy number gain | See cases | |
| | IGLV4-3, LINC01659 +163 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +163 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +160 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +160 more | Copy number gain | See cases | GConflicting classifications of pathogenicity |
| | ADORA2A, ADORA2A-AS1 +162 more | Copy number gain | See cases | |
| | LOC130067089, LOC130067090 +160 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +157 more | Copy number gain | See cases | |
| | LOC130067070, LOC130067071 +124 more | Copy number gain | See cases | |
| | LOC130067246, LOC130067247 +556 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +84 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +81 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +81 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +80 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +80 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +80 more | Copy number gain | See cases | |
| | | Duplication | Schizophrenia | |
| | | Duplication | Schizophrenia | |
| | LOC130067107, LOC130067108 +74 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +76 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +76 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +70 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +76 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +74 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +74 more | Copy number gain | See cases | GConflicting classifications of pathogenicity |
| | ADORA2A, ADORA2A-AS1 +74 more | Copy number gain | See cases | |
| | DERL3, LOC111721701 +3 more | Duplication | Intellectual disability, autosomal dominant 15 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | Rhabdoid tumor predisposition syndrome 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Rhabdoid tumor predisposition syndrome 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Rhabdoid tumor predisposition syndrome 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Rhabdoid tumor predisposition syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Schwannomatosis 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Schwannomatosis 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Schwannomatosis 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Rhabdoid tumor predisposition syndrome 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Schwannomatosis 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Deletion | Rhabdoid tumor predisposition syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (inframe_deletion +1 more) | Rhabdoid tumor predisposition syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Schwannomatosis 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |