| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058720, LOC130058721 +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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058805, LOC130058806 +187 more | 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 | |
| | | Copy number loss | See cases | |
| | LOC108281183, LOC112340392 +62 more | 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 | |
| | LOC130058744, LOC130058745 +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 |
| | ATP2A1, ATP2A1-AS1 +28 more | Copy number gain | See cases | |
| | NFATC2IP-AS1, RABEP2 +36 more | Copy number gain | not provided | |
| | ATXN2L, LOC130058734 (P18T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATXN2L, LOC130058734 (G30C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATXN2L, LOC130058734 (G37D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATXN2L, LOC130058734 (T44N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATXN2L, LOC130058734 (G75D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ATP2A1, ATP2A1-AS1 +13 more | Deletion | Brody myopathy | |
| | ATP2A1, ATP2A1-AS1 +32 more | Copy number loss | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ATP2A1, ATP2A1-AS1 +33 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Marfanoid habitus and intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | 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 | |
| | ATP2A1, ATP2A1-AS1 +32 more | Copy number loss | See cases | |
| | ATP2A1, ATP2A1-AS1 +32 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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 +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | Chromosome 16p12.2-p11.2 deletion syndrome | |
| | | Deletion | not provided | |
| | | Deletion | Neuronal ceroid lipofuscinosis | |