| | AMOTL2, DNAJC13 +1343 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129937351, LOC129937424 +570 more | Copy number loss | See cases | |
| | GOLGB1, LOC129389118 +326 more | Copy number loss | See cases | |
| | LOC126806792, LOC126806793 +291 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ALDH1L1-AS1, ALDH1L1-AS2 +214 more | Copy number loss | See cases | |
| | | Deletion (no sequence alteration) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +1 more | |
| | LOC126806798, ZNF148 (R778fs +1 more) | Microsatellite (frameshift variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | LOC126806798, ZNF148 (R716W +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806798, ZNF148 (D630H +1 more) | Single nucleotide variant (missense variant) | ZNF148-related condition | |
| | LOC126806798, ZNF148 (S623C +1 more) | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806798, ZNF148 (P638Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ZNF148-related condition | |
| | LOC126806798, ZNF148 (N582S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806798, ZNF148 (A557S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806798, ZNF148 (K598* +1 more) | Single nucleotide variant (nonsense) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | LOC126806798, ZNF148 (G546E +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LOC126806798, ZNF148 (I529V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126806798, ZNF148 (V525M +1 more) | Single nucleotide variant (missense variant) | ZNF148-related condition | |
| | LOC126806798, ZNF148 (H556P +1 more) | Single nucleotide variant (missense variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126806798, ZNF148 (T501fs +1 more) | Deletion (frameshift variant) | not provided | |
| | LOC126806798, ZNF148 (L502fs +1 more) | Microsatellite (frameshift variant) | Intellectual disability +1 more | |
| | LOC126806798, ZNF148 (Q500* +1 more) | Single nucleotide variant (nonsense) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | ZNF148, LOC126806798 (S487fs +1 more) | Duplication (frameshift variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | LOC126806798, ZNF148 (K528fs +1 more) | Insertion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | ZNF148-related condition | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Deletion (frameshift variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (frameshift variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Duplication (frameshift variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ZNF148-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | ZNF148-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Single nucleotide variant (synonymous variant) | ZNF148-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (intron variant) | ZNF148-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | ZNF148-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | Aortic aneurysm, familial thoracic 7 | |
| | | Duplication | Autosomal dominant hypocalcemia 1 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 16 trisomy | |
| | | Copy number gain | not specified | |
| | | Deletion | Alkaptonuria | |
| | | Copy number loss | not provided | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |