| | | Copy number gain | See cases | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | LOC112695092, LOC112695093 +1004 more | Copy number gain | See cases | |
| | LOC130067848, LOC130067849 +687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067524, LOC130067525 +27 more | Duplication | Nephronophthisis-like nephropathy 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | L3MBTL2, L3MBTL2-AS1 (Y30C) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | L3MBTL2, L3MBTL2-AS1 (R34P) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | L3MBTL2, L3MBTL2-AS1 (S42N) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | L3MBTL2, L3MBTL2-AS1 (P77H) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | L3MBTL2, L3MBTL2-AS1 (R78C) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | L3MBTL2-AS1, L3MBTL2 (D173V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | L3MBTL2, L3MBTL2-AS1 (K186R) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | L3MBTL2-AS1, L3MBTL2 (A192V) | Single nucleotide variant (non-coding transcript 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 (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) | 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) | 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 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | 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 +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Syndromic craniosynostosis | |
| | | Duplication | Adenylosuccinate lyase deficiency | |
| | | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | C22orf15, C22orf23 +435 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 | |
| | | Copy number gain | See cases | |