| | | Duplication | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | L3MBTL2, L3MBTL2-AS1 (S73G) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | L3MBTL2, L3MBTL2-AS1 (E55D) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | EBV-positive nodal T- and NK-cell lymphoma | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Non-obstructive azoospermia | |
| | | Copy number gain | Syndromic craniosynostosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | L3MBTL2, L3MBTL2-AS1 (S42N) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | L3MBTL2, L3MBTL2-AS1 (K186R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | L3MBTL2, L3MBTL2-AS1 (P77H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | L3MBTL2, L3MBTL2-AS1 (R78C) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Duplication | Adenylosuccinate lyase deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | L3MBTL2, L3MBTL2-AS1 (D173V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | L3MBTL2, L3MBTL2-AS1 (Y30C) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | L3MBTL2, L3MBTL2-AS1 (A192V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Immunodeficiency, common variable, 4 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | L3MBTL2, L3MBTL2-AS1 (R34P) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Nephronophthisis-like nephropathy 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ZNF280A, ZNF280B +438 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 | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067596, LOC130067597 +687 more | Copy number gain | See cases | |
| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067651, LOC130067652 +1004 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |