| | | Copy number gain | See cases | |
| | KIF9, KIF9-AS1 (H775N +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (F689S +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (I750T +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (R652P +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KIF9, KIF9-AS1 (M576L +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KIF9, KIF9-AS1 (D640H +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | KIF9, KIF9-AS1 (R531C +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (L598P +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (L586I +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (L497P +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (K570N +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (Q494H +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (E548D +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (R547Q +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (N478S +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (K533N +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (R466Q +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (V504A +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (P434L +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | KIF9, KIF9-AS1 (R492C +3 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | KIF9, KIF9-AS1 (S559L +3 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | KIF9, KIF9-AS1 (R547W +3 more) | Single nucleotide variant (non-coding transcript variant +2 more) | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Luscan-Lumish syndrome | |
| | | Duplication | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | 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 | |