| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130057778, WHAMM (V114M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130057777, WHAMM (S83L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130057778, WHAMM (E111Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862198, WHAMM (G720S) | 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 | |
| | LOC130057778, WHAMM (W131C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130057778, WHAMM (G125W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | 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 | |
| | LOC126862198, WHAMM (S780N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862198, WHAMM (P768A) | 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 | |
| | LOC126862198, WHAMM (N740S) | 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 | |
| | LOC130057778, WHAMM (G117D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862198, WHAMM (R773H) | 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 | |
| | LOC126862198, WHAMM (P768L) | 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 | |
| | LOC126862198, WHAMM (A737T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862198, WHAMM (R725W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130057778, WHAMM (P137S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Familial colorectal cancer +1 more | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Premature ovarian failure | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | 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 | |
| | | Duplication | not provided | |
| | | Deletion | Primary amenorrhea | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | SLC24A1, SLC28A1 +310 more | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Premature ovarian failure | |
| | LOC130057771, LOC130057772 +14 more | Copy number loss | Breast ductal adenocarcinoma | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057816, LOC130057817 +1763 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130057773, LOC130057774 +72 more | Copy number gain | See cases | |