| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058727, LOC130058728 +287 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058732, LOC130058733 +504 more | Copy number gain | See cases | |
| | ZNF747, ZNF747-DT +378 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Schizophrenia | |
| | LOC125146439, LOC125146440 +179 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058739, LOC130058740 +57 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058756, LOC130058757 +170 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +48 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +44 more | Copy number gain | See cases | Gconflicting data from submitters |
| | ATP2A1, ATP2A1-AS1 +45 more | Copy number gain | See cases | |
| | ATP2A1, ATP2A1-AS1 +45 more | Copy number gain | See cases | |
| | ATP2A1, ATP2A1-AS1 +43 more | Copy number gain | See cases | |
| | ATP2A1, ATP2A1-AS1 +41 more | Copy number gain | See cases | |
| | LAT, LOC112340393 +44 more | Deletion | Distal 16p11.2 microdeletion syndrome | |
| | ATP2A1, ATP2A1-AS1 +37 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +37 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +36 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +36 more | Copy number gain | See cases | |
| | ATP2A1, ATP2A1-AS1 +37 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +34 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +34 more | Copy number loss | See cases | |
| | LOC130058735, ATP2A1 +34 more | Duplication | not provided | |
| | ATP2A1, ATP2A1-AS1 +34 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +34 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +36 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +34 more | Copy number gain | See cases | Gconflicting data from submitters |
| | NFATC2IP-AS1, RABEP2 +36 more | Copy number gain | not provided | |
| | ATP2A1, ATP2A1-AS1 +32 more | Copy number loss | Autism spectrum disorder | |
| | ATP2A1, ATP2A1-AS1 +33 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +32 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +32 more | Copy number gain | See cases | |
| | ATP2A1, ATP2A1-AS1 +31 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +31 more | Copy number gain | See cases | |
| | ATP2A1, ATP2A1-AS1 +29 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +28 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +28 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Severe combined immunodeficiency due to LAT deficiency | |
| | | Single nucleotide variant (missense variant) | LAT-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | LAT-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Severe combined immunodeficiency due to LAT deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |