| | | Single nucleotide variant (missense variant +2 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 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 | |
| | | Microsatellite (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | ARFGEF1, CSPP1 (G1084R +7 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | ARFGEF1-related disorder | |
| | | Single nucleotide variant (nonsense +2 more) | ARFGEF1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | ARFGEF1-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | ARFGEF1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | ARFGEF1-related disorder | |
| | | Indel (missense variant +1 more) | ARFGEF1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | ARFGEF1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARFGEF1, CSPP1 (E1011K +7 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | 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 +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (nonsense +1 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant +1 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 +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ARFGEF1, CSPP1 (S966G +7 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant +1 more) | Neurodevelopmental disorder | |
| | | Deletion (frameshift variant +1 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Duplication | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (splice donor variant) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant +2 more) | ARFGEF1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | ARFGEF1-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | ARFGEF1-related disorder | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (R1021Q +7 more) | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (V1127A +7 more) | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (K1125E +7 more) | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Deletion (frameshift variant +2 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |