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Items: 19

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:166737197
GRCh38:
Chr2:165880687
TTC21Bnot specified, not providedUncertain significance
(Nov 2, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr2:166740469
GRCh38:
Chr2:165883959
TTC21BJeune thoracic dystrophy, Joubert syndrome, Nephronophthisis,
not specified
Benign/Likely benign
(Jul 11, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr2:166747424-166747428
GRCh38:
Chr2:165890914-165890918
TTC21Bnot specifiedUncertain significance
(Sep 26, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr2:166758247
GRCh38:
Chr2:165901737
TTC21BJeune thoracic dystrophy, Nephronophthisis, not specified
Benign/Likely benign
(Apr 26, 2017)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr2:166767913
GRCh38:
Chr2:165911403
TTC21BJeune thoracic dystrophy, Joubert syndrome, Nephronophthisis,
not specified
Benign/Likely benign
(Aug 10, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr2:166767964
GRCh38:
Chr2:165911454
TTC21BJeune thoracic dystrophy, Joubert syndrome, Nephronophthisis,
not specified
Benign/Likely benign
(Aug 8, 2017)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr2:166770120
GRCh38:
Chr2:165913610
TTC21BJeune thoracic dystrophy, Joubert syndrome, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:166773820
GRCh38:
Chr2:165917310
TTC21BJeune thoracic dystrophy, Joubert syndrome, not specified,
not provided
Conflicting interpretations of pathogenicity
(Jan 25, 2017)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr2:166773971
GRCh38:
Chr2:165917461
TTC21BJeune thoracic dystrophy, Joubert syndrome, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:166781158
GRCh38:
Chr2:165924648
TTC21BJeune thoracic dystrophy, Joubert syndrome, Nephronophthisis,
not specified
Benign/Likely benign
(Aug 10, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr2:166781188
GRCh38:
Chr2:165924678
TTC21BJeune thoracic dystrophy, Joubert syndrome, Nephronophthisis,
not specified, not provided
Benign/Likely benign
(Jan 5, 2017)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr2:166788324
GRCh38:
Chr2:165931814
TTC21BJeune thoracic dystrophy, Joubert syndrome, Nephronophthisis,
not specified
Benign/Likely benign
(Feb 22, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr2:166788336
GRCh38:
Chr2:165931826
TTC21BJeune thoracic dystrophy, Joubert syndrome, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr2:166789554
GRCh38:
Chr2:165933044
TTC21BJeune thoracic dystrophy, Joubert syndrome, Nephronophthisis,
not specified, not provided
Conflicting interpretations of pathogenicity
(Nov 28, 2017)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr2:166797556
GRCh38:
Chr2:165941046
TTC21B, TTC21B-AS1not specifiedConflicting interpretations of pathogenicity
(Jan 19, 2018)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr2:166797582
GRCh38:
Chr2:165941072
TTC21B, TTC21B-AS1Jeune thoracic dystrophy, Joubert syndrome, Nephronophthisis,
not specified
Benign/Likely benign
(Feb 22, 2017)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr2:166797646
GRCh38:
Chr2:165941136
TTC21B, TTC21B-AS1Jeune thoracic dystrophy, Joubert syndrome, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:166799826
GRCh38:
Chr2:165943316
TTC21B, TTC21B-AS1not specifiedUncertain significance
(Oct 20, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr2:166806142
GRCh38:
Chr2:165949632
TTC21Bnot specifiedBenign/Likely benign
(Oct 6, 2016)
criteria provided, multiple submitters, no conflicts
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