| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | LOC130000405, LOC130000406 +489 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130000722, LOC130000723 +470 more | Copy number gain | See cases | |
| | ARFGEF1, ARFGEF1-DT +245 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | ARFGEF1, CSPP1 (R1016* +7 more) | Single nucleotide variant (nonsense) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (R929Q +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 +1 more | |
| | ARFGEF1, CSPP1 (D646N +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (D931A +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ARFGEF1, CSPP1 (P939L +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (T1010I +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (T1005S +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 +1 more | |
| | ARFGEF1, CSPP1 (Q1009E +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (Q1036K +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (A1012V +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (K959N +7 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (K1009E +7 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CSPP1, ARFGEF1 (V945I +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Joubert syndrome 21 +1 more | |
| | ARFGEF1, CSPP1 (I1064V +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 21 +1 more | |
| | ARFGEF1, CSPP1 (V1020L +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (V1009A +7 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (R1010* +7 more) | Single nucleotide variant (nonsense) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (R1021Q +7 more) | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (M1014T +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Deletion (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | 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 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | ARFGEF1, CSPP1 (D1029N +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (T1030N +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (N1025S +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Microsatellite (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (Y1038* +7 more) | Duplication (nonsense) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (G1012S +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (E1013Q +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (T1014I +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (A1077V +7 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ARFGEF1, CSPP1 (D1080N +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (D1058G +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | CSPP1-related condition +1 more | |
| | ARFGEF1, CSPP1 (V737I +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (P1024fs +7 more) | Deletion (frameshift variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (P1052S +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (S1114L +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (P1057T +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |