| - GRCh37:
- Chr12:111085687
- GRCh38:
- Chr12:110647882
| TCTN1 | P407L, P481L, P529L, P536L, P571L, P585L, P590L | Joubert syndrome 13 | Uncertain significance
(Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111064200-111064201
- GRCh38:
- Chr12:110626395-110626396
| TCTN1 | S128fs, S68fs, S72fs | Joubert syndrome 13 | Pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111057644
- GRCh38:
- Chr12:110619839
| TCTN1 | A15V, A19V, A75V | Joubert syndrome 13 | Uncertain significance
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111066677
- GRCh38:
- Chr12:110628872
| TCTN1 | S134fs, S138fs, S16fs, S194fs | Joubert syndrome 13 | Likely pathogenic
(Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111072498
- GRCh38:
- Chr12:110634693
| TCTN1 | K186*, K246*, K68*, K190* | Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 13
| Pathogenic
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111080145
- GRCh38:
- Chr12:110642340
| TCTN1 | R414W, R428W, R250W, R372W | Inborn genetic diseases, Joubert syndrome 13, Meckel-Gruber syndrome,
Familial aplasia of the vermis | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111082935
- GRCh38:
- Chr12:110645130
| TCTN1 | | Joubert syndrome 13 | not provided | no assertion provided |
| - GRCh37:
- Chr12:111082824-111082825
- GRCh38:
- Chr12:110645019-110645020
| TCTN1 | W285fs, W354fs, W407fs, W414fs, W449fs, W463fs | Joubert syndrome 13 | Pathogenic
(Apr 29, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr12:111052011-111052022
- GRCh38:
- Chr12:110614206-110614217
| TCTN1 | | not specified, not provided | Uncertain significance
(Feb 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111057762
- GRCh38:
- Chr12:110619957
| TCTN1 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided,
Joubert syndrome 13 | Likely pathogenic
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111052012-111052013
- GRCh38:
- Chr12:110614207-110614208
| TCTN1 | V11fs | Joubert syndrome 13 | Pathogenic
(Feb 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111080142
- GRCh38:
- Chr12:110642337
| TCTN1 | V371I, V249I, V413I, V427I | Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 13
| Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111064169
- GRCh38:
- Chr12:110626364
| TCTN1 | G59D, G115D, G55D | Joubert syndrome 13 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111064168
- GRCh38:
- Chr12:110626363
| TCTN1 | G59S, G115S, G55S | Joubert syndrome 13 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111085603
- GRCh38:
- Chr12:110647798
| TCTN1 | F379S, F453S, F543S, F557S, F501S, F508S, F562S | Joubert syndrome 13, Familial aplasia of the vermis, Meckel-Gruber syndrome
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111080164
- GRCh38:
- Chr12:110642359
| TCTN1 | G378D, G256D, G420D, G434D | Joubert syndrome 13 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111080134
- GRCh38:
- Chr12:110642329
| TCTN1 | L246P, L424P, L410P, L368P | Joubert syndrome 13, Familial aplasia of the vermis, Meckel-Gruber syndrome
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111079412
- GRCh38:
- Chr12:110641607
| TCTN1 | | Joubert syndrome 13 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111078300
- GRCh38:
- Chr12:110640495
| TCTN1 | L259R, L305R, L319R, L141R, L263R | Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 13
| Uncertain significance
(Feb 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111072564
- GRCh38:
- Chr12:110634759
| TCTN1 | S212G, S90G, S208G, S268G | Joubert syndrome 13, Familial aplasia of the vermis, Meckel-Gruber syndrome
| Uncertain significance
(Nov 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111072556
- GRCh38:
- Chr12:110634751
| TCTN1 | A87G, A209G, A205G, A265G | Joubert syndrome 13 | Uncertain significance
(Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111070296
- GRCh38:
- Chr12:110632491
| TCTN1 | T159N, T215N, T37N, T155N | Joubert syndrome 13, Familial aplasia of the vermis, Meckel-Gruber syndrome
| Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111066642
- GRCh38:
- Chr12:110628837
| TCTN1 | | Joubert syndrome 13 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111082894
- GRCh38:
- Chr12:110645089
| TCTN1 | W429*, W471*, W485*, W307*, W436*, W376* | Joubert syndrome 13 | Pathogenic
(Apr 11, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr12:111078208
- GRCh38:
- Chr12:110640403
| TCTN1 | | Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 13
| Likely benign
(May 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111078224
- GRCh38:
- Chr12:110640419
| TCTN1 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 13
| Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:111051974
- GRCh38:
- Chr12:110614169
| TCTN1 | | not provided, Joubert syndrome 13 | Conflicting interpretations of pathogenicity
(Apr 9, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:111079413
- GRCh38:
- Chr12:110641608
| TCTN1 | G377R, G213R, G331R, G391R, G335R | Joubert syndrome 13 | Uncertain significance
(Jun 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111070341
- GRCh38:
- Chr12:110632536
| TCTN1 | L230P, L52P, L170P, L174P | Joubert syndrome 13 | Uncertain significance
(Jun 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111082855
- GRCh38:
- Chr12:110645050
| TCTN1 | P295fs, P364fs, P417fs, P424fs, P473fs, P459fs | Joubert syndrome 13, TCTN1-related condition, not provided,
Meckel-Gruber syndrome, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Apr 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:111080154
- GRCh38:
- Chr12:110642349
| TCTN1 | V417L, V431L, V253L, V375L | Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome,
not provided, Joubert syndrome 13 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:111082827
- GRCh38:
- Chr12:110645022
| TCTN1 | W449R, W463R, W414R, W285R, W354R, W407R | not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Joubert syndrome 13 | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111085594
- GRCh38:
- Chr12:110647789
| TCTN1 | A559V, A540V, A376V, A450V, A505V, A554V, A498V | Joubert syndrome 13, Inborn genetic diseases, Meckel-Gruber syndrome,
Familial aplasia of the vermis | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111078837
- GRCh38:
- Chr12:110641032
| TCTN1 | | Joubert syndrome 13, Meckel-Gruber syndrome, Familial aplasia of the vermis
| Conflicting interpretations of pathogenicity
(Oct 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:111078304
- GRCh38:
- Chr12:110640499
| TCTN1 | | Joubert syndrome 13, Meckel-Gruber syndrome, Familial aplasia of the vermis,
not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:111066673
- GRCh38:
- Chr12:110628868
| TCTN1 | Y192N, Y14N, Y132N, Y136N | Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 13
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111064189
- GRCh38:
- Chr12:110626384
| TCTN1 | Q122K, Q62K, Q66K | Joubert syndrome 13 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111057747
- GRCh38:
- Chr12:110619942
| TCTN1 | | Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 13
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111052198
- GRCh38:
- Chr12:110614393
| TCTN1 | V71I | Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 13
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111052001
- GRCh38:
- Chr12:110614196
| TCTN1 | G5D | Joubert syndrome 13, Meckel-Gruber syndrome, Familial aplasia of the vermis
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111051942
- GRCh38:
- Chr12:110614137
| TCTN1 | | Joubert syndrome 13, not specified | Likely benign
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111051904
- GRCh38:
- Chr12:110614099
| TCTN1 | | Joubert syndrome 13 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111051848
- GRCh38:
- Chr12:110614043
| TCTN1 | | Joubert syndrome 13 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111057718
- GRCh38:
- Chr12:110619913
| TCTN1 | V100M, V40M, V44M | Joubert syndrome 13, not specified, Inborn genetic diseases,
Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided
| Conflicting interpretations of pathogenicity
(Jan 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:111078242
- GRCh38:
- Chr12:110640437
| TCTN1 | R300*, R286*, R122*, R240*, R244* | Joubert syndrome 13 | Pathogenic
(Feb 10, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr12:111074306
- GRCh38:
- Chr12:110636501
| TCTN1 | | Joubert syndrome 13 | Pathogenic
(Feb 19, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111078278
- GRCh38:
- Chr12:110640473
| TCTN1 | V298I, V312I, V134I, V256I, V252I | Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
Joubert syndrome 13 | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111066587
- GRCh38:
- Chr12:110628782
| TCTN1 | S163Y, S103Y, S107Y | Meckel-Gruber syndrome, Familial aplasia of the vermis, not specified,
Joubert syndrome 13 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111082911
- GRCh38:
- Chr12:110645106
| TCTN1 | I477F, I491F, I313F, I435F, I382F, I442F | not specified, Joubert syndrome 13, Meckel-Gruber syndrome,
Familial aplasia of the vermis, not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:111064165
- GRCh38:
- Chr12:110626360
| TCTN1 | | Joubert syndrome 13 | Pathogenic
(May 5, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111078284
- GRCh38:
- Chr12:110640479
| TCTN1 | A300T, A314T, A136T, A258T, A254T | Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 13
| Conflicting interpretations of pathogenicity
(Nov 23, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:111078238
- GRCh38:
- Chr12:110640433
| TCTN1 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, not specified,
Joubert syndrome 13 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111066562
- GRCh38:
- Chr12:110628757
| TCTN1 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, not specified,
Joubert syndrome 13 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111052219
- GRCh38:
- Chr12:110614414
| TCTN1, LOC130008755 | M1I | Meckel-Gruber syndrome, Familial aplasia of the vermis, not specified,
not provided, Joubert syndrome 13 | Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111082836
- GRCh38:
- Chr12:110645031
| TCTN1 | G452C, G466C, G417C, G288C, G357C, G410C | Familial aplasia of the vermis, Meckel-Gruber syndrome, not specified,
Joubert syndrome 13 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111080097
- GRCh38:
- Chr12:110642292
| TCTN1 | I398V, I412V, I356V, I234V | Meckel-Gruber syndrome, Familial aplasia of the vermis, not specified,
not provided, Joubert syndrome 13 | Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111057639
- GRCh38:
- Chr12:110619834
| TCTN1 | | Joubert syndrome 13 | Pathogenic
(Jul 3, 2011) | no assertion criteria provided |