| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058535, LOC130058536 +916 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC125146383, LOC125146384 +556 more | Copy number gain | See cases | |
| | LOC105371046, LOC105371050 +842 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARHGDIG, ATP6V0C +482 more | Copy number gain | See cases | |
| | LOC130058149, LOC130058150 +925 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MAPK8IP3, MAPK8IP3-AS1 +88 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FAHD1, LOC130058194 (L57I) | Single nucleotide variant (missense variant) | not specified | |
| | FAHD1, LOC130058194 (M58V) | Single nucleotide variant (missense variant) | not specified | |
| | FAHD1, LOC130058194 (T62P) | Single nucleotide variant (missense variant) | not specified | |
| | FAHD1, LOC130058194 (R63C) | 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 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | FAHD1, MEIOB (K469N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FAHD1, MEIOB (H411Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FAHD1, MEIOB (V437I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FAHD1, MEIOB (V408L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Premature ovarian failure 23 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FAHD1, MEIOB (L403fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Azoospermia | |
| | | Deletion (frameshift variant +1 more) | Premature ovarian failure 23 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Duplication | Tuberous sclerosis 2 | |
| | | Duplication | Epilepsy +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Hyperaldosteronism, familial, type IV +3 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Epilepsy +2 more | |
| | | Copy number gain | not provided | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Duplication | Idiopathic generalized epilepsy +1 more | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Inversion | Hereditary cancer-predisposing syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
| | | Copy number loss | not provided | |
| | | 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 | 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 | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | See cases | |