| RS863225131 |
AHI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 3, Joubert syndrome and related disorders |
| RS863225132 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS863225133 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS863225134 |
AHI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS863225135 |
AHI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 3, Joubert syndrome |
| RS863225136 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome |
| RS863225137 |
AHI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 3, Joubert syndrome |
| RS863225138 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome and related disorders |
| RS863225139 |
AHI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 3, Joubert syndrome |
| RS863225140 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS863225141 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS863225142 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, See cases |
| RS863225143 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome |
| RS863225144 |
AHI1
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 3, Joubert syndrome |
| RS863225145 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS863225146 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS863225147 |
AHI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 3, Joubert syndrome |
| RS863225148 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS863225149 |
ARL13B
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 8, Joubert syndrome 8 |
| RS863225150 |
B9D2
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome, Joubert syndrome and related disorders |
| RS863225151 |
C2CD3
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225152 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS863225153 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS863225154 |
CPLANE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS863225155 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS863225156 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS863225157 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS863225158 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, CPLANE1-related disorder |
| RS863225159 |
CPLANE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 17, Orofaciodigital syndrome type 6 |
| RS863225161 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Orofaciodigital syndrome type 6 |
| RS863225162 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS863225163 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Orofaciodigital syndrome type 6 |
| RS863225164 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Orofaciodigital syndrome type 6 |
| RS863225165 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS863225166 |
CPLANE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS863225167 |
CPLANE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 17, CPLANE1-related disorder |
| RS863225168 |
CC2D2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 9, Joubert syndrome |
| RS863225169 |
CC2D2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 9, Joubert syndrome |
| RS863225170 |
CC2D2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 9, Joubert syndrome |
| RS863225171 |
CC2D2A
|
Health Risk |
Pathogenic |
Joubert syndrome 9, Joubert syndrome |
| RS863225172 |
CC2D2A
|
Health Risk |
Pathogenic |
Joubert syndrome 9, Joubert syndrome 9 |
| RS863225173 |
CC2D2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 9, Joubert syndrome |
| RS863225174 |
CC2D2A
|
Health Risk |
Pathogenic |
Joubert syndrome 9, Joubert syndrome 9 |
| RS863225175 |
CC2D2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 9, Joubert syndrome |
| RS863225176 |
CC2D2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 9, Joubert syndrome 9 |
| RS863225177 |
CC2D2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 9, Joubert syndrome |
| RS863225178 |
CC2D2A
|
Health Risk |
Pathogenic |
Joubert syndrome 9, Neurodevelopmental disorder |
| RS863225179 |
CC2D2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 9, Joubert syndrome |
| RS863225181 |
CC2D2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 9, Meckel-Gruber syndrome |
| RS863225182 |
CEP290
|
Health Risk |
Pathogenic |
Joubert syndrome 5, Meckel-Gruber syndrome |
| RS863225183 |
CEP290
|
Health Risk |
Pathogenic |
Joubert syndrome 5, Nephronophthisis |
| RS863225184 |
CEP290
|
Health Risk |
Pathogenic |
Joubert syndrome 5, Joubert syndrome |
| RS863225185 |
CEP290
|
Health Risk |
Pathogenic |
Joubert syndrome 5, Meckel syndrome |
| RS863225186 |
CEP290
|
Health Risk |
Pathogenic |
Joubert syndrome 5, Nephronophthisis |
| RS863225187 |
CEP290
|
Health Risk |
Pathogenic |
Joubert syndrome 5, Bardet-Biedl syndrome 14 |
| RS863225188 |
CEP290
|
Health Risk |
Pathogenic |
Joubert syndrome 5, Joubert syndrome 5 |
| RS863225189 |
CEP290
|
Health Risk |
Pathogenic |
Joubert syndrome 5, Joubert syndrome |
| RS863225190 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, CSPP1-related disorder |
| RS863225191 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Joubert syndrome 21 |
| RS863225192 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Joubert syndrome 21 |
| RS863225193 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Joubert syndrome 21 |
| RS863225194 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Joubert syndrome 21 |
| RS863225197 |
INPP5E
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome, Joubert syndrome |
| RS863225198 |
INPP5E
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225199 |
INPP5E
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225200 |
INPP5E
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome, Joubert syndrome and related disorders |
| RS863225201 |
INPP5E
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome, Joubert syndrome |
| RS863225202 |
INPP5E
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225203 |
KIAA0586
|
Health Risk |
Pathogenic |
Joubert syndrome 23, Joubert syndrome 23 |
| RS863225204 |
MKS1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225205 |
MKS1
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS863225206 |
MKS1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225207 |
MKS1
|
Health Risk |
Likely pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS863225208 |
MKS1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225209 |
MKS1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225210 |
MKS1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225211 |
OFD1
|
Health Risk |
Pathogenic |
Joubert syndrome 10, Joubert syndrome 10 |
| RS863225212 |
OFD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 10, Joubert syndrome |
| RS863225213 |
OFD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 10, Orofaciodigital syndrome I |
| RS863225214 |
PIBF1
|
Health Risk |
Likely pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225215 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome 7, Joubert syndrome |
| RS863225216 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome 7, Joubert syndrome 7 |
| RS863225217 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome 7, Joubert syndrome |
| RS863225218 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome 7, Joubert syndrome |
| RS863225219 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome 7, Joubert syndrome 7 |
| RS863225220 |
TCTN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS863225221 |
TCTN2
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS863225222 |
TCTN2
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel syndrome |
| RS863225224 |
TMEM67
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 6, Meckel-Gruber syndrome |
| RS863225225 |
TMEM67
|
Health Risk |
Pathogenic |
Joubert syndrome 6, Joubert syndrome 6 |
| RS863225226 |
TMEM67
|
Health Risk |
Pathogenic |
Joubert syndrome 6, Joubert syndrome 6 |
| RS863225227 |
TMEM67
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 6, 6 conditions |
| RS863225228 |
TMEM67
|
Health Risk |
Pathogenic |
Joubert syndrome 6, Joubert syndrome 6 |
| RS863225229 |
TMEM67
|
Health Risk |
Pathogenic |
Joubert syndrome 6, Joubert syndrome 6 |
| RS863225230 |
TMEM67
|
Health Risk |
Pathogenic |
Joubert syndrome 6, Joubert syndrome 6 |
| RS863225231 |
TMEM67
|
Health Risk |
Pathogenic |
Joubert syndrome 6, Joubert syndrome 6 |
| RS863225232 |
TMEM67
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 6, TMEM67-related disorder |
| RS863225233 |
TMEM67
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 6, 6 conditions |
| RS863225234 |
TMEM67
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 6, Joubert syndrome 6 |
| RS863225235 |
TMEM67
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 6, Joubert syndrome |