| | | Copy number gain | See cases | |
| | LOC130064933, LOC130064934 +1093 more | Copy number gain | See cases | |
| | LOC113939975, LOC116286194 +806 more | Copy number gain | See cases | |
| | MIR498, MIR512-1 +782 more | Copy number gain | See cases | |
| | LOC130065070, LOC130065071 +761 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065039, LOC130065040 +62 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Gestational diabetes mellitus uncontrolled | |
| | FPR3, LOC126862921 +16 more | Copy number gain | See cases | |
| | FPR3, LOC126862921 +18 more | Copy number gain | See cases | |
| | LOC126862922, LOC126862923 +16 more | Copy number gain | See cases | |
| | ZNF350, ZNF350-AS1 (V524I) | Single nucleotide variant (missense variant) | not provided | |
| | ZNF350, ZNF350-AS1 (V484I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (A480T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (A460V) | Single nucleotide variant (missense variant) | not provided | |
| | ZNF350, ZNF350-AS1 (G459R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (S443T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350-AS1, ZNF350 (K409N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350-AS1, ZNF350 (N405D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (Y402C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (Q393H) | Single nucleotide variant (missense variant) | not provided | |
| | ZNF350, ZNF350-AS1 (A382G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (A382T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (T344M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (G342E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (F339C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350-AS1, ZNF350 (R310Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (R276Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (R235G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (F215Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (T199I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350-AS1, ZNF350 (H114N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ZNF350, ZNF350-AS1 (I112T) | 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 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Premature ovarian failure | |