| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Multiple congenital anomalies/dysmorphic syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ZNF394, ZNF789 (E103A +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (H113D +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (H113R +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (S129T +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (R152S +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (K180E +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (R126I +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (F129L +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (G235R +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (D166N +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (A270T +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (H180R +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (Q304P +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (A304S +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (R229W +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (P243S +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (T360M +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (C364Y +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF394, ZNF789 (W313R +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ZNF789, ZNF394 (I396T +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion | not provided | |
| | | Copy number loss | not specified | |
| | ATP5MF, ATP5MF-PTCD1 +5 more | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | ATP5MF-PTCD1, AZGP1 +127 more | Copy number gain | Isolated Pierre-Robin syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Split hand-foot malformation 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Pleomorphic xanthoastrocytoma | |
| | ATP5MF-PTCD1, BUD31 +10 more | Copy number gain | See cases | |
| | | Inversion | Childhood apraxia of speech | |