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Links from MedGen

Items: 1 to 100 of 526

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:90429459-94856914
Achondrogenesis, type IAUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr14:92480867-92480868
GRCh38:
Chr14:92014523-92014524
TRIP11T292fs, T293fsAchondrogenesis, type IAPathogenic
(Jun 30, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr14:92454689
GRCh38:
Chr14:91988345
TRIP11Achondrogenesis, type IALikely benign
(Jul 12, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr14:92436072
GRCh38:
Chr14:91969728
TRIP11P1961L, P1962LAchondrogenesis, type IAUncertain significance
(Jul 7, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr14:92472108
GRCh38:
Chr14:92005764
TRIP11K737Q, K738QAchondrogenesis, type IAUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr14:92471153
GRCh38:
Chr14:92004809
TRIP11K1055T, K1056TAchondrogenesis, type IAUncertain significance
(Dec 19, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr14:92454745
GRCh38:
Chr14:91988401
TRIP11Achondrogenesis, type IALikely benign
(May 16, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr14:92441015
GRCh38:
Chr14:91974671
TRIP11P1843A, P1844AAchondrogenesis, type IAUncertain significance
(Dec 17, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr14:92472649
GRCh38:
Chr14:92006305
TRIP11L556F, L557FAchondrogenesis, type IAUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr14:92470009
GRCh38:
Chr14:92003665
TRIP11Achondrogenesis, type IALikely benign
(Aug 8, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr14:92465654
GRCh38:
Chr14:91999310
TRIP11K1607E, K1608EAchondrogenesis, type IAUncertain significance
(Jun 12, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr14:92441102
GRCh38:
Chr14:91974758
TRIP11Achondrogenesis, type IALikely benign
(Oct 8, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr14:92442509
GRCh38:
Chr14:91976165
TRIP11D1761A, D1762AAchondrogenesis, type IAUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr14:92471682
GRCh38:
Chr14:92005338
TRIP11A880T, A879TAchondrogenesis, type IAUncertain significance
(Jan 4, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr14:92461749
GRCh38:
Chr14:91995405
TRIP11Q1667R, Q1668RAchondrogenesis, type IAUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr14:92470367
GRCh38:
Chr14:92004023
TRIP11S1317C, S1318CAchondrogenesis, type IAUncertain significance
(Jan 21, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr14:92465722
GRCh38:
Chr14:91999378
TRIP11R1584H, R1585HAchondrogenesis, type IAUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr14:92470612
GRCh38:
Chr14:92004268
TRIP11Achondrogenesis, type IALikely benign
(Aug 9, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr14:92474208
GRCh38:
Chr14:92007864
TRIP11Achondrogenesis, type IALikely benign
(Sep 17, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr14:92466470
GRCh38:
Chr14:92000126
TRIP11Achondrogenesis, type IALikely benign
(Jun 17, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr14:92465790
GRCh38:
Chr14:91999446
TRIP11Achondrogenesis, type IALikely benign
(Dec 18, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr14:92472031
GRCh38:
Chr14:92005687
TRIP11Achondrogenesis, type IALikely benign
(Oct 5, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr14:92480566
GRCh38:
Chr14:92014222
TRIP11Achondrogenesis, type IALikely benign
(Sep 15, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr14:92478084
GRCh38:
Chr14:92011740
TRIP11Achondrogenesis, type IALikely benign
(Sep 16, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr14:92461830
GRCh38:
Chr14:91995486
TRIP11L1640S, L1641SAchondrogenesis, type IAUncertain significance
(Oct 31, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr14:92465686
GRCh38:
Chr14:91999342
TRIP11R1597H, R1596HAchondrogenesis, type IAUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr14:92441505
GRCh38:
Chr14:91975161
TRIP11Achondrogenesis, type IALikely benign
(Jul 5, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr14:92471778
GRCh38:
Chr14:92005434
TRIP11I847V, I848VAchondrogenesis, type IAUncertain significance
(Jun 18, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr14:92454616
GRCh38:
Chr14:91988272
TRIP11Achondrogenesis, type IABenign
(Aug 2, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr14:92472715
GRCh38:
Chr14:92006371
TRIP11Achondrogenesis, type IALikely benign
(May 31, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr14:92471683
GRCh38:
Chr14:92005339
TRIP11Achondrogenesis, type IALikely benign
(Feb 19, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr14:92477349
GRCh38:
Chr14:92011005
TRIP11S431L, S432LAchondrogenesis, type IAUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr14:92471266
GRCh38:
Chr14:92004922
TRIP11Achondrogenesis, type IALikely benign
(Aug 17, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr14:92471865-92471876
GRCh38:
Chr14:92005521-92005532
TRIP11Achondrogenesis, type IAUncertain significance
(Feb 12, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr14:92499552
GRCh38:
Chr14:92033208
TRIP11A61E, A62EAchondrogenesis, type IAUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr14:92472577
GRCh38:
Chr14:92006233
TRIP11Achondrogenesis, type IALikely benign
(Jun 25, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr14:92470497
GRCh38:
Chr14:92004153
TRIP11E1275K, E1274KAchondrogenesis, type IAUncertain significance
(Jul 1, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr14:92471349
GRCh38:
Chr14:92005005
TRIP11S990A, S991AAchondrogenesis, type IAUncertain significance
(May 6, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr14:92499559
GRCh38:
Chr14:92033215
TRIP11I59V, I60VAchondrogenesis, type IAUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr14:92499617
GRCh38:
Chr14:92033273
TRIP11Achondrogenesis, type IALikely benign
(Aug 23, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr14:92471562
GRCh38:
Chr14:92005218
TRIP11E919K, E920KAchondrogenesis, type IAUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr14:92472668
GRCh38:
Chr14:92006324
TRIP11M550R, M551RAchondrogenesis, type IAUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr14:92454677
GRCh38:
Chr14:91988333
TRIP11Achondrogenesis, type IALikely benign
(Mar 29, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr14:92454610
GRCh38:
Chr14:91988266
TRIP11Achondrogenesis, type IALikely benign
(Mar 9, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr14:92471655
GRCh38:
Chr14:92005311
TRIP11D889H, D888HAchondrogenesis, type IAUncertain significance
(Apr 2, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr14:92482223
GRCh38:
Chr14:92015879
TRIP11Achondrogenesis, type IALikely benign
(Mar 11, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr14:92482222-92482223
GRCh38:
Chr14:92015878-92015879
TRIP11Achondrogenesis, type IAUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr14:92472346
GRCh38:
Chr14:92006002
TRIP11Achondrogenesis, type IALikely benign
(Feb 28, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr14:92470679
GRCh38:
Chr14:92004335
TRIP11Achondrogenesis, type IAPathogenic
(Feb 11, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr14:92477420
GRCh38:
Chr14:92011076
TRIP11Achondrogenesis, type IALikely benign
(Feb 4, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr14:92484014
GRCh38:
Chr14:92017670
TRIP11Achondrogenesis, type IALikely benign
(Feb 8, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr14:92506006
GRCh38:
Chr14:92039662
TRIP11Achondrogenesis, type IALikely benign
(Jan 28, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr14:92460142
GRCh38:
Chr14:91993798
TRIP11Achondrogenesis, type IALikely benign
(Jan 28, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr14:92471710
GRCh38:
Chr14:92005366
TRIP11Achondrogenesis, type IALikely benign
(Oct 17, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr14:92469902
GRCh38:
Chr14:92003558
TRIP11R1473K, R1472KAchondrogenesis, type IAUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr14:92487882-92487883
GRCh38:
Chr14:92021538-92021539
TRIP11Achondrogenesis, type IABenign
(Jan 15, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr14:92488023
GRCh38:
Chr14:92021679
TRIP11Achondrogenesis, type IALikely benign
(Oct 8, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr14:92472532
GRCh38:
Chr14:92006188
TRIP11Achondrogenesis, type IALikely benign
(May 16, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr14:92491648
GRCh38:
Chr14:92025304
TRIP11Achondrogenesis, type IAUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr14:92477376
GRCh38:
Chr14:92011032
TRIP11R423H, R422HAchondrogenesis, type IAUncertain significance
(Feb 8, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr14:92461818
GRCh38:
Chr14:91995474
TRIP11L1644S, L1645SAchondrogenesis, type IAUncertain significance
(May 26, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr14:92440977
GRCh38:
Chr14:91974633
TRIP11Achondrogenesis, type IALikely benign
(Jan 26, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr14:92440990
GRCh38:
Chr14:91974646
TRIP11Q1851R, Q1852RAchondrogenesis, type IAUncertain significance
(May 8, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr14:92466403
GRCh38:
Chr14:92000059
TRIP11Q1536R, Q1535RAchondrogenesis, type IAUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr14:92472195
GRCh38:
Chr14:92005851
TRIP11T708A, T709Anot provided, Achondrogenesis, type IAUncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr14:92505989
GRCh38:
Chr14:92039645
TRIP11Q14PAchondrogenesis, type IAUncertain significance
(Jul 16, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr14:92470845
GRCh38:
Chr14:92004501
TRIP11I1158V, I1159VAchondrogenesis, type IAUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr14:92461868
GRCh38:
Chr14:91995524
TRIP11Achondrogenesis, type IABenign
(Apr 24, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr14:92439206
GRCh38:
Chr14:91972862
TRIP11Achondrogenesis, type IALikely pathogenic
(Aug 23, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr14:92472276
GRCh38:
Chr14:92005932
TRIP11Achondrogenesis, type IALikely benign
(Nov 1, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr14:92472665
GRCh38:
Chr14:92006321
TRIP11D551A, D552AAchondrogenesis, type IAUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr14:92488139
GRCh38:
Chr14:92021795
TRIP11L116F, L117FAchondrogenesis, type IAUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr14:92472700
GRCh38:
Chr14:92006356
TRIP11K539N, K540NAchondrogenesis, type IAUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr14:92471306
GRCh38:
Chr14:92004962
TRIP11E1004V, E1005VAchondrogenesis, type IAUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr14:92436203
GRCh38:
Chr14:91969859
TRIP11Achondrogenesis, type IALikely benign
(Jun 14, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr14:92470300
GRCh38:
Chr14:92003956
TRIP11Achondrogenesis, type IALikely benign
(Dec 13, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr14:92471229
GRCh38:
Chr14:92004885
TRIP11E1031K, E1030KAchondrogenesis, type IAUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr14:92470547
GRCh38:
Chr14:92004203
TRIP11D1257V, D1258VAchondrogenesis, type IAUncertain significance
(Feb 13, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr14:92469784
GRCh38:
Chr14:92003440
TRIP11Achondrogenesis, type IALikely benign
(Oct 18, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr14:92472508
GRCh38:
Chr14:92006164
TRIP11Achondrogenesis, type IALikely benign
(Oct 4, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr14:92488181
GRCh38:
Chr14:92021837
TRIP11Achondrogenesis, type IALikely benign
(Sep 10, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr14:92441581
GRCh38:
Chr14:91975237
TRIP11Q1798*, Q1797*Achondrogenesis, type IAPathogenic
(Jul 21, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr14:92484079
GRCh38:
Chr14:92017735
TRIP11G201R, G202RAchondrogenesis, type IAUncertain significance
(Jul 3, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr14:92460158
GRCh38:
Chr14:91993814
TRIP11Achondrogenesis, type IALikely benign
(Sep 10, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr14:92491756
GRCh38:
Chr14:92025412
TRIP11R69S, R70SAchondrogenesis, type IAUncertain significance
(Jun 25, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr14:92470564
GRCh38:
Chr14:92004220
TRIP11Achondrogenesis, type IALikely benign
(Jun 15, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr14:92470691
GRCh38:
Chr14:92004347
TRIP11E1210V, E1209VAchondrogenesis, type IAUncertain significance
(May 25, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr14:92491748
GRCh38:
Chr14:92025404
TRIP11K73R, K72RAchondrogenesis, type IAUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr14:92466443
GRCh38:
Chr14:92000099
TRIP11G1523R, G1522RAchondrogenesis, type IAUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr14:92471865
GRCh38:
Chr14:92005521
TRIP11K819E, K818EAchondrogenesis, type IAUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr14:92499526
GRCh38:
Chr14:92033182
TRIP11Achondrogenesis, type IALikely benign
(Jan 11, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr14:92470126
GRCh38:
Chr14:92003782
TRIP11Achondrogenesis, type IALikely benign
(Oct 17, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr14:92441634
GRCh38:
Chr14:91975290
TRIP11Achondrogenesis, type IALikely benign
(Jul 1, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr14:92472506
GRCh38:
Chr14:92006162
TRIP11E604G, E605GAchondrogenesis, type IAUncertain significance
(Jun 11, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr14:92469886
GRCh38:
Chr14:92003542
TRIP11E1478D, E1477DAchondrogenesis, type IAUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr14:92461684
GRCh38:
Chr14:91995340
TRIP11Achondrogenesis, type IALikely benign
(Jul 16, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr14:92472492
GRCh38:
Chr14:92006148
TRIP11K609Q, K610QAchondrogenesis, type IAUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr14:92436069
GRCh38:
Chr14:91969725
TRIP11A1962V, A1963VAchondrogenesis, type IAUncertain significance
(May 25, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr14:92472063
GRCh38:
Chr14:92005719
TRIP11N752H, N753HAchondrogenesis, type IAUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr14:92482175
GRCh38:
Chr14:92015831
TRIP11D229N, D230NAchondrogenesis, type IAUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
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