| | ARFGEF1, CSPP1 (D931A +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ARFGEF1, CSPP1 (V945I +7 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +1 more | |
| | ARFGEF1, CSPP1 (P1015S +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 +1 more | |
| | ARFGEF1, CSPP1 (D1050H +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ARFGEF1, CSPP1 (S966G +7 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARFGEF1, CSPP1 (N1025S +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 +2 more | |
| | ARFGEF1, CSPP1 (D1058G +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ARFGEF1, CSPP1 (S1114L +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | CSPP1, ARFGEF1 (R750C +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ARFGEF1, CSPP1 (R1010S +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ARFGEF1, CSPP1 (R1142P +7 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARFGEF1, CSPP1 (R1137Q +7 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CSPP1, ARFGEF1 (R1139Q +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 +2 more | |
| | ARFGEF1, CSPP1 (N1173S +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ARFGEF1, CSPP1 (P1088S +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ARFGEF1, CSPP1 (I1089T +7 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARFGEF1, CSPP1 (N1150S +7 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARFGEF1, CSPP1 (S1139L +7 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARFGEF1, CSPP1 (R1131H +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 +1 more | |
| | ARFGEF1, CSPP1 (Q1180R +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 +1 more | |
| | ARFGEF1, CSPP1 (Q1181E +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | 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) | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +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) | 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) | Inborn genetic diseases +2 more | |
| | | 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) | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | 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) | 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 +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | 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) | 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 +2 more) | Inborn genetic diseases | |