| | | Copy number loss | See cases | |
| | LOC130006570, LOC130006571
+474 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Microsatellite (intron variant) | Schizophrenia | |
| | | Single nucleotide variant (synonymous variant +2 more) | PAK1-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | 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) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +2 more) | PAK1-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | PAK1-related disorder | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Deletion (frameshift variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | PAK1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (synonymous variant +3 more) | PAK1-related disorder | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | PAK1-related disorder | |
| | | Single nucleotide variant (missense variant +3 more) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT
+1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26
+1289 more | Copy number gain | See cases | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |