| | ATP8A2, ATXN8OS +2048 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861801, LOC126861802 +2047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861839, LOC126861840 +2045 more | Copy number gain | See cases | |
| | LOC130009480, LOC130009481 +488 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124849292, LOC124849293 +2028 more | Copy number gain | See cases | |
| | LOC130009376, LOC130009377 +620 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009743, LOC130009744 +2024 more | Copy number gain | See cases | |
| | LOC130009548, LOC130009549 +2024 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | CDK8-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice acceptor variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense +1 more) | Heart, malformation of +6 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | CDK8-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CDK8-related condition | |
| | | Single nucleotide variant (missense variant) | CDK8-related condition | |
| | | Single nucleotide variant (missense variant) | CDK8-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with hypotonia and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | CDK8-related condition | |
| | CCDC169-SOHLH2, CCDC70 +332 more | Copy number gain | not provided | |
| | | Copy number gain | Complete trisomy 13 syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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 | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |