| | | Copy number gain | See cases | |
| | LOC126862582, LOC126862583 +1753 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with microcephaly and dysmorphic facies | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with microcephaly and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with microcephaly and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | SPOP-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (intron variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (intron variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (intron variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (intron variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (intron variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (intron variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (intron variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (intron variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly and dysmorphic facies | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Insertion (frameshift variant) | Nabais Sa-de Vries syndrome | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (synonymous variant) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly and dysmorphic facies | GPathogenic/Likely pathogenic |
| | | Insertion (nonsense) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (synonymous variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Prostate adenocarcinoma | |
| | | Single nucleotide variant (missense variant) | Prostate adenocarcinoma | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Prostate adenocarcinoma +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Prostate adenocarcinoma +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | |
| | | Single nucleotide variant (missense variant) | Malignant neoplasm of body of uterus +1 more | |
| | | Single nucleotide variant (missense variant) | Prostate adenocarcinoma +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant neoplasm of body of uterus +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant neoplasm of body of uterus +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Deletion (frameshift variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (synonymous variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (synonymous variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (synonymous variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Malignant tumor of prostate | |