| - GRCh37:
- Chr5:37164372
- GRCh38:
- Chr5:37164270
| CPLANE1 | | Joubert syndrome 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:139329272
- GRCh38:
- Chr9:136434820
| INPP5E | G286R | Joubert syndrome 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr9:139326417
- GRCh38:
- Chr9:136431965
| INPP5E | D469N, D470N | Joubert syndrome 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr9:139333645-139333646
- GRCh38:
- Chr9:136439193-136439194
| INPP5E | A76fs | Joubert syndrome 1 | Pathogenic
(Jun 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139324769
- GRCh38:
- Chr9:136430317
| INPP5E | Y587H, Y588H | Joubert syndrome 1 | Likely pathogenic
(Jun 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139326291
- GRCh38:
- Chr9:136431839
| INPP5E | R512W, R511W | Familial aplasia of the vermis, MORM syndrome, Joubert syndrome 1
| Uncertain significance
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:15575866
- GRCh38:
- Chr4:15574243
| CC2D2A | R1230*, R1181* | Joubert syndrome 9, not provided, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Joubert syndrome 1 | Pathogenic
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139329324
- GRCh38:
- Chr9:136434872
| INPP5E | | Familial aplasia of the vermis, MORM syndrome, Joubert syndrome 1
| Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:37121841
- GRCh38:
- Chr5:37121739
| CPLANE1 | Y2967*, Y3021* | Joubert syndrome 1 | Pathogenic
(Jan 2, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr9:139333126
- GRCh38:
- Chr9:136438674
| INPP5E | S249F | Inborn genetic diseases, Joubert syndrome 1, not specified,
Familial aplasia of the vermis, Rod-cone dystrophy | Conflicting interpretations of pathogenicity
(Mar 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139324744
- Chr9:139333126
- GRCh38:
- Chr9:136430292
- Chr9:136438674
| INPP5E, INPP5E | R596T, R595T, S249F | Rod-cone dystrophy | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139327574-139327591
- GRCh38:
- Chr9:136433122-136433139
| INPP5E | | Familial aplasia of the vermis, Joubert syndrome 1 | Uncertain significance
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| | | | Leber congenital amaurosis | Pathogenic
(Jul 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139326958
- GRCh38:
- Chr9:136432506
| INPP5E | D454N, D453N | INPP5E-related condition, Joubert syndrome 1, Familial aplasia of the vermis
| Uncertain significance
(Apr 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139324877
- GRCh38:
- Chr9:136430425
| INPP5E | | Joubert syndrome 1, Familial aplasia of the vermis | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139327006
- GRCh38:
- Chr9:136432554
| INPP5E | D437H, D438H | Joubert syndrome 1 | Uncertain significance
(Oct 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139324165
- GRCh38:
- Chr9:136429713
| INPP5E | Q632*, Q633* | Joubert syndrome 1 | Likely pathogenic
(Apr 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139334046
- GRCh38:
- Chr9:136439594
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139327495
- GRCh38:
- Chr9:136433043
| INPP5E | V398M | Joubert syndrome 1, Familial aplasia of the vermis | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139323643
- GRCh38:
- Chr9:136429191
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139323568
- GRCh38:
- Chr9:136429116
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139323545
- GRCh38:
- Chr9:136429093
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139334020
- GRCh38:
- Chr9:136439568
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139333912
- GRCh38:
- Chr9:136439460
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139326432
- GRCh38:
- Chr9:136431980
| INPP5E | V464I, V465I | not specified, Joubert syndrome 1, Familial aplasia of the vermis,
Rod-cone dystrophy | Uncertain significance
(Sep 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139326372
- GRCh38:
- Chr9:136431920
| INPP5E | G485R, G484R | Joubert syndrome 1, Familial aplasia of the vermis | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139323316
- GRCh38:
- Chr9:136428864
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139333292
- GRCh38:
- Chr9:136438840
| INPP5E | P194A | Joubert syndrome 1, Familial aplasia of the vermis | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139326278
- GRCh38:
- Chr9:136431826
| INPP5E | K515R, K516R | Joubert syndrome 1, Familial aplasia of the vermis | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139324845
- GRCh38:
- Chr9:136430393
| INPP5E | | Joubert syndrome 1, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139328514
- GRCh38:
- Chr9:136434062
| INPP5E | G337R | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139328481
- GRCh38:
- Chr9:136434029
| INPP5E | | Joubert syndrome 1, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139327692
- GRCh38:
- Chr9:136433240
| INPP5E | | Joubert syndrome 1, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139324114
- GRCh38:
- Chr9:136429662
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139323914
- GRCh38:
- Chr9:136429462
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139326320
- GRCh38:
- Chr9:136431868
| INPP5E | P501L, P502L | Retinal dystrophy, Familial aplasia of the vermis, MORM syndrome,
Joubert syndrome 1 | Uncertain significance
(Jun 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139326423
- GRCh38:
- Chr9:136431971
| INPP5E | R467C, R468C | INPP5E-related condition, not provided, Familial aplasia of the vermis,
Retinal dystrophy, Joubert syndrome 1, Rod-cone dystrophy
| Conflicting interpretations of pathogenicity
(Sep 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139333362
- GRCh38:
- Chr9:136438910
| INPP5E | N170K | Joubert syndrome 1, Familial aplasia of the vermis, INPP5E-related condition
| Uncertain significance
(Oct 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139333403
- GRCh38:
- Chr9:136438951
| INPP5E | G157W | Familial aplasia of the vermis, INPP5E-related condition, Joubert syndrome 1,
not provided | Conflicting interpretations of pathogenicity
(Apr 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139325467-139325468
- GRCh38:
- Chr9:136431015-136431016
| INPP5E | | Joubert syndrome 1, Familial aplasia of the vermis, INPP5E-related condition
| Uncertain significance
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88535071
- GRCh38:
- Chr12:88141294
| CEP290 | I5T | Joubert syndrome 1 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88533299
- GRCh38:
- Chr12:88139522
| CEP290 | K75E | Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome,
not specified, Joubert syndrome 1, Retinitis pigmentosa,
Retinal dystrophy | Conflicting interpretations of pathogenicity
(Jul 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:88522784
- GRCh38:
- Chr12:88129007
| CEP290 | S294* | Joubert syndrome 1 | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88513890
- GRCh38:
- Chr12:88120113
| CEP290 | | Joubert syndrome 1 | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88482927
- GRCh38:
- Chr12:88089150
| CEP290 | M1304T | Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Joubert syndrome 1, Retinitis pigmentosa | Uncertain significance
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88478363
- GRCh38:
- Chr12:88084586
| CEP290 | E1568D | Joubert syndrome 1 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88456563
- GRCh38:
- Chr12:88062786
| CEP290, LOC129390514 | | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
See cases, Joubert syndrome 1 | Pathogenic/Likely pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94821113
- GRCh38:
- Chr8:93808885
| TMEM67 | Q748E, Q829E | Joubert syndrome 1 | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94811945-94811946
- GRCh38:
- Chr8:93799717-93799718
| TMEM67 | A737fs, A656fs | Joubert syndrome 1 | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:135768146
- GRCh38:
- Chr6:135447008
| AHI1 | Q593H | Joubert syndrome 1 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:135763803
- GRCh38:
- Chr6:135442665
| AHI1 | R610P | not specified, Joubert syndrome 1, Joubert syndrome 3,
Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:135748327
- GRCh38:
- Chr6:135427189
| AHI1 | L915fs | Familial aplasia of the vermis, Joubert syndrome 1 | Pathogenic
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:37227472
- GRCh38:
- Chr5:37227370
| CPLANE1 | L465fs | Joubert syndrome 1, not provided, See cases
| Pathogenic
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:37213683
- GRCh38:
- Chr5:37213581
| CPLANE1 | P968fs | Joubert syndrome 1, not provided, See cases
| Pathogenic
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:37206344
- GRCh38:
- Chr5:37206242
| CPLANE1 | G1035A | not provided, Joubert syndrome 1 | Conflicting interpretations of pathogenicity
(Aug 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139326437
- GRCh38:
- Chr9:136431985
| INPP5E | A462V, A463V | INPP5E-related condition, Inborn genetic diseases, not specified,
Familial aplasia of the vermis | Uncertain significance
(Jul 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139326346
- GRCh38:
- Chr9:136431894
| INPP5E | | Joubert syndrome 1, not provided | Conflicting interpretations of pathogenicity
(Jun 5, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139326295
- GRCh38:
- Chr9:136431843
| INPP5E | | Joubert syndrome 1, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Jul 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139333568
- GRCh38:
- Chr9:136439116
| INPP5E | D102Y | Familial aplasia of the vermis, Joubert syndrome 1 | Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:93754287
- GRCh38:
- Chr3:94035443
| ARL13B | | Joubert syndrome 8, Joubert syndrome 1 | Benign
(Apr 8, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:93754286-93754287
- GRCh38:
- Chr3:94035442-94035443
| ARL13B | | not provided, Joubert syndrome 1 | Benign/Likely benign
(Aug 20, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88465636
- GRCh38:
- Chr12:88071859
| CEP290 | R1926P | Retinitis pigmentosa, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Nephronophthisis, Leber congenital amaurosis 10, Meckel syndrome, type 4,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Joubert syndrome 5,
Joubert syndrome 1 | Pathogenic/Likely pathogenic
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:135749766
- GRCh38:
- Chr6:135428628
| AHI1 | | Familial aplasia of the vermis, Joubert syndrome 1, Joubert syndrome 3
| Pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139324768
- GRCh38:
- Chr9:136430316
| INPP5E | Y588C, Y587C | Joubert syndrome 1 | Uncertain significance
(Jun 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139333249
- GRCh38:
- Chr9:136438797
| INPP5E | T208I | Inborn genetic diseases, Joubert syndrome 1, not provided,
Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| | | | Joubert syndrome 9 | Likely pathogenic
(Dec 17, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr9:139329320
- GRCh38:
- Chr9:136434868
| INPP5E | | not provided, Joubert syndrome 1, Familial aplasia of the vermis
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:15529187
- GRCh38:
- Chr4:15527564
| CC2D2A | R423*, R374* | Joubert syndrome 1, Familial aplasia of the vermis, Meckel-Gruber syndrome
| Pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:37227771
- GRCh38:
- Chr5:37227669
| CPLANE1 | R424* | Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided,
Joubert syndrome 17 | Pathogenic/Likely pathogenic
(Nov 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:135644432
- GRCh38:
- Chr6:135323294
| AHI1 | R1066* | Familial aplasia of the vermis, Rod-cone dystrophy, not provided,
Joubert syndrome 1, Retinal dystrophy, not specified
| Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:101377773-101377774
- GRCh38:
- Chr1:100912217-100912218
| SLC30A7 | H164S | Joubert syndrome 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:1484855
- GRCh38:
- Chr7:1445219
| MICALL2 | P284R | Joubert syndrome 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr9:139334218
- GRCh38:
- Chr9:136439766
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139334214
- GRCh38:
- Chr9:136439762
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139334142
- GRCh38:
- Chr9:136439690
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139334110
- GRCh38:
- Chr9:136439658
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139334045
- GRCh38:
- Chr9:136439593
| INPP5E | | not provided, Joubert syndrome 1 | Benign/Likely benign
(Jun 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139333851
- GRCh38:
- Chr9:136439399
| INPP5E | | not provided, Familial aplasia of the vermis, Joubert syndrome 1
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139333736
- GRCh38:
- Chr9:136439284
| INPP5E | E46K | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139333325
- GRCh38:
- Chr9:136438873
| INPP5E | P183S | INPP5E-related condition, Joubert syndrome 1, Familial aplasia of the vermis
| Uncertain significance
(Oct 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139329323
- GRCh38:
- Chr9:136434871
| INPP5E | | not provided, Joubert syndrome 1, Familial aplasia of the vermis
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139327662
- GRCh38:
- Chr9:136433210
| INPP5E | | Joubert syndrome 1, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139327630
- GRCh38:
- Chr9:136433178
| INPP5E | R379K | Joubert syndrome 1, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Sep 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139327394
- GRCh38:
- Chr9:136432942
| INPP5E | | Joubert syndrome 1, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Apr 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139326993
- GRCh38:
- Chr9:136432541
| INPP5E | T442I, T441I | Inborn genetic diseases, not provided, Joubert syndrome 1,
Familial aplasia of the vermis | Uncertain significance
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139326938
- GRCh38:
- Chr9:136432486
| INPP5E | | Joubert syndrome 1, Familial aplasia of the vermis, not specified
| Conflicting interpretations of pathogenicity
(Sep 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139326934
- GRCh38:
- Chr9:136432482
| INPP5E | A462T, A461T | INPP5E-related condition, Joubert syndrome 1, Familial aplasia of the vermis
| Uncertain significance
(Sep 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139326442
- GRCh38:
- Chr9:136431990
| INPP5E | | Familial aplasia of the vermis, Joubert syndrome 1 | Conflicting interpretations of pathogenicity
(Oct 5, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139326418
- GRCh38:
- Chr9:136431966
| INPP5E | | Joubert syndrome 1, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Feb 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139326319
- GRCh38:
- Chr9:136431867
| INPP5E | | Familial aplasia of the vermis, not provided, Joubert syndrome 1
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139324801
- GRCh38:
- Chr9:136430349
| INPP5E | P577R, P576R | Familial aplasia of the vermis, not provided, Joubert syndrome 1
| Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139324788
- GRCh38:
- Chr9:136430336
| INPP5E | | not specified, Joubert syndrome 1, Familial aplasia of the vermis
| Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:139324029
- GRCh38:
- Chr9:136429577
| INPP5E | | Joubert syndrome 1, not provided | Benign/Likely benign
(Jun 26, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139323892
- GRCh38:
- Chr9:136429440
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139323799
- GRCh38:
- Chr9:136429347
| INPP5E | | Joubert syndrome 1, not provided | Benign
(Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139323497
- GRCh38:
- Chr9:136429045
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139323424
- GRCh38:
- Chr9:136428972
| INPP5E | | Joubert syndrome 1 | Benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139323406
- GRCh38:
- Chr9:136428954
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139323400
- GRCh38:
- Chr9:136428948
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139323380
- GRCh38:
- Chr9:136428928
| INPP5E | | Joubert syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |