| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (A255V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (K250E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (R242* +2 more) | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126861109, DEAF1 (Y213H +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (E207fs +2 more) | Insertion (frameshift variant) | not provided | |
| | DEAF1, LOC126861109 (P197A +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (A436V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (K193E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | DEAF1, LOC126861109 (A185V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (inframe_indel) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 24 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability-epilepsy-extrapyramidal syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability, autosomal dominant 24 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability-epilepsy-extrapyramidal syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 24 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant | not provided | GPathogenic/Likely pathogenic |