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Links from MedGen

Items: 1 to 100 of 244

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr2:166758420
Chr2:166747120-166747121
GRCh38:
Chr2:165901910
Chr2:165890610-165890611
TTC21B, TTC21BA857T, H1045fsAsphyxiating thoracic dystrophy 4Likely pathogenic
(Jun 18, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr2:166747120-166747121
GRCh38:
Chr2:165890610-165890611
TTC21BH1045fsAsphyxiating thoracic dystrophy 4Likely pathogenic
(Jun 17, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr2:166788255
GRCh38:
Chr2:165931745
TTC21BJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr2:166755209
GRCh38:
Chr2:165898699
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4, Jeune thoracic dystrophy,
Nephronophthisis		Likely benign
(Jul 15, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr2:166764171
GRCh38:
Chr2:165907661
TTC21BJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Likely benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr2:166731352-166731355
GRCh38:
Chr2:165874842-165874845
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4, Nephronophthisis,
Jeune thoracic dystrophy		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr2:166773791
GRCh38:
Chr2:165917281
TTC21BAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Likely benign
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:166773923
GRCh38:
Chr2:165917413
TTC21BJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Likely benign
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr2:166797707
GRCh38:
Chr2:165941197
TTC21B, TTC21B-AS1Jeune thoracic dystrophy, Nephronophthisis, Nephronophthisis 12,
Asphyxiating thoracic dystrophy 4		Benign/Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:166732729
GRCh38:
Chr2:165876219
TTC21BJeune thoracic dystrophy, Nephronophthisis, Nephronophthisis 12,
Asphyxiating thoracic dystrophy 4		Likely benign
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr2:166756271
GRCh38:
Chr2:165899761
TTC21BAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Likely benign
(Mar 23, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr2:166758409
GRCh38:
Chr2:165901899
TTC21BJeune thoracic dystrophy, Nephronophthisis, Nephronophthisis 12,
Asphyxiating thoracic dystrophy 4		Likely benign
(Jul 27, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr2:166747502
GRCh38:
Chr2:165890992
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4, Jeune thoracic dystrophy,
Nephronophthisis		Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr2:166740315
GRCh38:
Chr2:165883805
TTC21BR1225CAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr2:166747474
GRCh38:
Chr2:165890964
TTC21BL992SInborn genetic diseases, Asphyxiating thoracic dystrophy 4, Nephronophthisis 12,
Nephronophthisis, Jeune thoracic dystrophy		Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr2:166747103
GRCh38:
Chr2:165890593
TTC21BR1050QJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr2:166802156
GRCh38:
Chr2:165945646
TTC21B, TTC21B-AS1R103CJeune thoracic dystrophy, Nephronophthisis, Nephronophthisis 12,
Asphyxiating thoracic dystrophy 4		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:166758291
GRCh38:
Chr2:165901781
TTC21BY900NAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr2:166810208
GRCh38:
Chr2:165953698
TTC21BS3LJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Dec 12, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:166773868
GRCh38:
Chr2:165917358
TTC21BA600SAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr2:166740443
GRCh38:
Chr2:165883933
TTC21BR1182HTTC21B-related condition, Asphyxiating thoracic dystrophy 4, Nephronophthisis 12,
Jeune thoracic dystrophy, Nephronophthisis		Uncertain significance
(Jan 27, 2023)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr2:166755262
GRCh38:
Chr2:165898752
TTC21BM962LJeune thoracic dystrophy, Nephronophthisis, Nephronophthisis 12,
Asphyxiating thoracic dystrophy 4		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr2:166786681
GRCh38:
Chr2:165930171
TTC21BAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Nephronophthisis,
Jeune thoracic dystrophy		Likely pathogenic
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr2:166737207
GRCh38:
Chr2:165880697
TTC21BR1263Wnot provided, TTC21B-related condition, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12, Jeune thoracic dystrophy, Nephronophthisis
Uncertain significance
(Apr 8, 2023)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr2:166799844
GRCh38:
Chr2:165943334
TTC21B-AS1, TTC21BV146GAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Inborn genetic diseases,
Jeune thoracic dystrophy, Nephronophthisis		Uncertain significance
(Jan 26, 2023)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr2:166773981
GRCh38:
Chr2:165917471
TTC21BY562CNephronophthisis, Jeune thoracic dystrophy, Nephronophthisis 12,
Asphyxiating thoracic dystrophy 4		Uncertain significance
(Apr 14, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:166764273-166764274
GRCh38:
Chr2:165907763-165907764
TTC21BM828fsJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Pathogenic/Likely pathogenic
(May 15, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:166797672
GRCh38:
Chr2:165941162
TTC21B, TTC21B-AS1Q192RNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12, not provided		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:166740512
GRCh38:
Chr2:165884002
TTC21BA1159VInborn genetic diseases, Nephronophthisis, Jeune thoracic dystrophy,
Asphyxiating thoracic dystrophy 4, Nephronophthisis 12		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:166788298
GRCh38:
Chr2:165931788
TTC21BF288LAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Dec 15, 2021)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr2:166744833
GRCh38:
Chr2:165888323
TTC21BV1139IAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Nephronophthisis,
Jeune thoracic dystrophy		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr2:166740371
GRCh38:
Chr2:165883861
TTC21BI1206TAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Nephronophthisis,
Jeune thoracic dystrophy		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:166786799
GRCh38:
Chr2:165930289
TTC21BS324AInborn genetic diseases, Nephronophthisis 12, Asphyxiating thoracic dystrophy 4,
not provided, Jeune thoracic dystrophy, Nephronophthisis
Conflicting interpretations of pathogenicity
(May 3, 2023)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr2:166802102
GRCh38:
Chr2:165945592
TTC21B, TTC21B-AS1I121VNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Mar 2, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:166747062
GRCh38:
Chr2:165890552
TTC21BI1064LNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr2:166771721
GRCh38:
Chr2:165915211
TTC21BT710AInborn genetic diseases, Asphyxiating thoracic dystrophy 4, Nephronophthisis 12,
Jeune thoracic dystrophy, Nephronophthisis		Uncertain significance
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr2:166737212
GRCh38:
Chr2:165880702
TTC21BS1261IAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Nephronophthisis,
Jeune thoracic dystrophy		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr2:166773790
GRCh38:
Chr2:165917280
TTC21BV626INephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr2:166740320
GRCh38:
Chr2:165883810
TTC21BC1223FAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Nephronophthisis,
Jeune thoracic dystrophy		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:166747121
GRCh38:
Chr2:165890611
TTC21BR1044Qnot provided, Nephronophthisis 12, Asphyxiating thoracic dystrophy 4,
Jeune thoracic dystrophy, Nephronophthisis		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr2:166740357
GRCh38:
Chr2:165883847
TTC21BA1211TAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
42.
GRCh37:
Chr2:166781144
GRCh38:
Chr2:165924634
TTC21BC477WAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Jul 1, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:166740416
GRCh38:
Chr2:165883906
TTC21BI1191TJeune thoracic dystrophy, Nephronophthisis, not provided,
Asphyxiating thoracic dystrophy 4, Nephronophthisis 12		Uncertain significance
(Jul 1, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr2:166771789
GRCh38:
Chr2:165915279
TTC21BF687CJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr2:166740437
GRCh38:
Chr2:165883927
TTC21BA1184VAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr2:166785674
GRCh38:
Chr2:165929164
TTC21BM453VJeune thoracic dystrophy, Nephronophthisis, Nephronophthisis 12,
Asphyxiating thoracic dystrophy 4, not provided		Uncertain significance
(May 18, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:166770130
GRCh38:
Chr2:165913620
TTC21BP722RNephronophthisis 12, Asphyxiating thoracic dystrophy 4, Nephronophthisis,
Jeune thoracic dystrophy		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:166785759
GRCh38:
Chr2:165929249
TTC21BD424EAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Conflicting interpretations of pathogenicity
(Jul 25, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr2:166786855
GRCh38:
Chr2:165930345
TTC21BI305TAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr2:166770119
GRCh38:
Chr2:165913609
TTC21BL726IJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Jul 27, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr2:166775851
GRCh38:
Chr2:165919341
TTC21BL537VNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Mar 30, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:166785654
GRCh38:
Chr2:165929144
TTC21BC459*Asphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Pathogenic/Likely pathogenic
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:166758378
GRCh38:
Chr2:165901868
TTC21BE871KAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:166806135
GRCh38:
Chr2:165949625
TTC21BF41LJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Jul 4, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr2:166740464
GRCh38:
Chr2:165883954
TTC21BR1175QJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr2:166756282
GRCh38:
Chr2:165899772
TTC21BM956VNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:166767942
GRCh38:
Chr2:165911432
TTC21BG786RAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Nephronophthisis,
Jeune thoracic dystrophy		Conflicting interpretations of pathogenicity
(Jul 18, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr2:166747483
GRCh38:
Chr2:165890973
TTC21BL989SNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr2:166775887
GRCh38:
Chr2:165919377
TTC21BY525Hnot provided, Asphyxiating thoracic dystrophy 4, Nephronophthisis 12,
Jeune thoracic dystrophy, Nephronophthisis		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:166786731
GRCh38:
Chr2:165930221
TTC21BW346*Nephronophthisis 12, Asphyxiating thoracic dystrophy 4Pathogenic
(Jan 18, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr2:166786783
GRCh38:
Chr2:165930273
TTC21BE329VJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Jan 18, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr2:166771886
GRCh38:
Chr2:165915376
TTC21BR655WNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12, not provided		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr2:166731301
GRCh38:
Chr2:165874791
TTC21BD1305EInborn genetic diseases, not provided, Nephronophthisis,
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
Uncertain significance
(Nov 18, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:166764207
GRCh38:
Chr2:165907697
TTC21BA850VNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12, not provided		Uncertain significance
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:166755205
GRCh38:
Chr2:165898695
TTC21BR981Cnot provided, Nephronophthisis 12, Asphyxiating thoracic dystrophy 4,
Jeune thoracic dystrophy, Nephronophthisis		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:166786155
GRCh38:
Chr2:165929645
TTC21Bnot provided, Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
Uncertain significance
(Jan 1, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:166799893
GRCh38:
Chr2:165943383
TTC21B, TTC21B-AS1Asphyxiating thoracic dystrophy 4, not providedBenign
(Sep 10, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr2:166805993
GRCh38:
Chr2:165949483
TTC21BR58QJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12, not provided		Conflicting interpretations of pathogenicity
(Oct 30, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr2:166747477
GRCh38:
Chr2:165890967
TTC21BR991HJeune thoracic dystrophy, Nephronophthisis, not provided,
Asphyxiating thoracic dystrophy 4, Nephronophthisis 12		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr2:166744908
GRCh38:
Chr2:165888398
TTC21BQ1114*Asphyxiating thoracic dystrophy 4, Nephronophthisis 12Likely pathogenic
(Jun 30, 2021)		criteria provided, single submitter
71.
GRCh37:
Chr2:166802195-166802196
GRCh38:
Chr2:165945685-165945686
TTC21B, TTC21B-AS1Nephronophthisis 12, Asphyxiating thoracic dystrophy 4Pathogenic
(Jun 30, 2021)		criteria provided, single submitter
72.
GRCh37:
Chr2:166785644
GRCh38:
Chr2:165929134
TTC21BAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Likely pathogenic
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr2:166747362
GRCh38:
Chr2:165890852
TTC21BG1030fsAsphyxiating thoracic dystrophy 4, Nephronophthisis 12Pathogenic
(Jun 30, 2021)		criteria provided, single submitter
74.
GRCh37:
Chr2:166747152
GRCh38:
Chr2:165890642
TTC21BAsphyxiating thoracic dystrophy 4, Nephronophthisis 12Likely pathogenic
(Jun 30, 2021)		criteria provided, single submitter
75.
GRCh37:
Chr2:166769074
GRCh38:
Chr2:165912564
TTC21BJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Likely benign
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr2:166775914
GRCh38:
Chr2:165919404
TTC21BQ516*Nephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Pathogenic/Likely pathogenic
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:166773783
GRCh38:
Chr2:165917273
TTC21BR628HInborn genetic diseases, Jeune thoracic dystrophy, Nephronophthisis,
Nephronophthisis 12, Asphyxiating thoracic dystrophy 4		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr2:166737206
GRCh38:
Chr2:165880696
TTC21BR1263QJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Apr 1, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr2:166775932
GRCh38:
Chr2:165919422
TTC21BA510PAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, not provided,
Jeune thoracic dystrophy, Nephronophthisis		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:166802095
GRCh38:
Chr2:165945585
TTC21B, TTC21B-AS1R123HNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Asphyxiating thoracic dystrophy 4, Nephronophthisis 12		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr2:166740531
GRCh38:
Chr2:165884021
TTC21BJeune thoracic dystrophy, Nephronophthisis, Inborn genetic diseases,
Asphyxiating thoracic dystrophy 4		Uncertain significance
(Sep 5, 2023)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:166767959
GRCh38:
Chr2:165911449
TTC21BE780VJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr2:166767920
GRCh38:
Chr2:165911410
TTC21BY793CAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis, not provided		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr2:166758383
GRCh38:
Chr2:165901873
TTC21BQ869RJeune thoracic dystrophy, Nephronophthisis, not provided,
Asphyxiating thoracic dystrophy 4, Nephronophthisis 12		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr2:166756338
GRCh38:
Chr2:165899828
TTC21BC937FJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(May 16, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr2:166805990
GRCh38:
Chr2:165949480
TTC21BE59ANephronophthisis 12, Asphyxiating thoracic dystrophy 4, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Oct 19, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr2:166767886
GRCh38:
Chr2:165911376
TTC21BW804CNephronophthisis 12, Asphyxiating thoracic dystrophy 4, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Apr 14, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr2:166797675
GRCh38:
Chr2:165941165
TTC21B-AS1, TTC21BR191HAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Jeune thoracic dystrophy,
Nephronophthisis		Uncertain significance
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr2:166788296
GRCh38:
Chr2:165931786
TTC21BY289CJeune thoracic dystrophy, Nephronophthisis, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12, not provided		Uncertain significance
(May 12, 2023)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:166786856
GRCh38:
Chr2:165930346
TTC21BI305VTTC21B-related condition, Jeune thoracic dystrophy, Nephronophthisis,
Asphyxiating thoracic dystrophy 4, Nephronophthisis 12		Conflicting interpretations of pathogenicity
(Dec 19, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr2:166805932
GRCh38:
Chr2:165949422
TTC21BI78MAsphyxiating thoracic dystrophy 4, Nephronophthisis 12, Nephronophthisis,
Jeune thoracic dystrophy		Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr2:166805910
GRCh38:
Chr2:165949400
TTC21BN86HNephronophthisis 12, Asphyxiating thoracic dystrophy 4, Nephronophthisis,
Jeune thoracic dystrophy		Conflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr2:166802125
GRCh38:
Chr2:165945615
TTC21B, TTC21B-AS1H113RTTC21B-related condition, Nephronophthisis, Jeune thoracic dystrophy,
Asphyxiating thoracic dystrophy 4, Nephronophthisis 12, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12		Uncertain significance
(Jul 14, 2023)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:166786229
GRCh38:
Chr2:165929719
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr2:166786164
GRCh38:
Chr2:165929654
TTC21BS394FNephronophthisis 12, Asphyxiating thoracic dystrophy 4, Nephronophthisis,
Jeune thoracic dystrophy		Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:166773984
GRCh38:
Chr2:165917474
TTC21BD561GNephronophthisis 12, Asphyxiating thoracic dystrophy 4, Nephronophthisis 12,
Asphyxiating thoracic dystrophy 4, Nephronophthisis, Jeune thoracic dystrophy
Uncertain significance
(May 13, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:166755243
GRCh38:
Chr2:165898733
TTC21BY968CNephronophthisis 12, Asphyxiating thoracic dystrophy 4, Nephronophthisis,
Jeune thoracic dystrophy		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr2:166747466
GRCh38:
Chr2:165890956
TTC21BL995VNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr2:166747446
GRCh38:
Chr2:165890936
TTC21BK1001NNephronophthisis, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 4,
Nephronophthisis 12, Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
Uncertain significance
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr2:166730905
GRCh38:
Chr2:165874395
TTC21BNephronophthisis 12, Asphyxiating thoracic dystrophy 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
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