U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 556

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh38:
Chr22:18985739-21081116
DiGeorge syndromePathogenic
(Aug 24, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr22:19766876-19766882
GRCh38:
Chr22:19779353-19779359
TBX1F382fsDiGeorge syndrome, Tetralogy of Fallot, Conotruncal heart malformations,
Velocardiofacial syndrome
not providedno assertion provided
3.
GRCh37:
Chr22:19748804
GRCh38:
Chr22:19761281
TBX1DiGeorge syndrome, Velocardiofacial syndrome, Tetralogy of Fallot
Likely pathogenic
(Dec 1, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr22:19754023-19754024
GRCh38:
Chr22:19766500-19766501
TBX1DiGeorge syndromeUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr22:19754129
GRCh38:
Chr22:19766606
TBX1E409D, E418DDiGeorge syndromeUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr22:19750811
GRCh38:
Chr22:19763288
TBX1M153T, M162TDiGeorge syndromeUncertain significance
(Sep 9, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr22:19754131
GRCh38:
Chr22:19766608
TBX1P410L, P419LDiGeorge syndromeUncertain significance
(Aug 27, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr22:19754114
GRCh38:
Chr22:19766591
TBX1DiGeorge syndromeLikely benign
(Oct 17, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr22:19751754
GRCh38:
Chr22:19764231
TBX1P197A, P206ADiGeorge syndromeUncertain significance
(Aug 29, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr22:19753363
GRCh38:
Chr22:19765840
TBX1DiGeorge syndromeLikely benign
(Mar 26, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr22:19754291-19754292
GRCh38:
Chr22:19766768-19766769
TBX1DiGeorge syndromeUncertain significance
(Apr 4, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr22:19752612
GRCh38:
Chr22:19765089
TBX1DiGeorge syndromeLikely benign
(Apr 1, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr22:19753916
GRCh38:
Chr22:19766393
TBX1DiGeorge syndromeUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr22:19752565
GRCh38:
Chr22:19765042
TBX1E266K, E257KDiGeorge syndromeUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr22:19748624
GRCh38:
Chr22:19761101
TBX1DiGeorge syndromeLikely benign
(Apr 25, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr22:19753926
GRCh38:
Chr22:19766403
TBX1DiGeorge syndromeLikely benign
(Jun 11, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr22:19753410
GRCh38:
Chr22:19765887
TBX1DiGeorge syndromeLikely benign
(Aug 23, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr22:19754232-19754246
GRCh38:
Chr22:19766709-19766723
TBX1DiGeorge syndromeUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr22:19754255
GRCh38:
Chr22:19766732
TBX1H460Q, H451QDiGeorge syndromeUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr22:19748587
GRCh38:
Chr22:19761064
TBX1P65L, P74LDiGeorge syndromeUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr22:19752531
GRCh38:
Chr22:19765008
TBX1DiGeorge syndromeLikely benign
(Dec 24, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr22:19748470
GRCh38:
Chr22:19760947
TBX1G35D, G26DDiGeorge syndromeUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr22:19750864
GRCh38:
Chr22:19763341
TBX1R171W, R180WDiGeorge syndromeUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr22:19753409
GRCh38:
Chr22:19765886
TBX1DiGeorge syndromeLikely benign
(Oct 21, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr22:19753362
GRCh38:
Chr22:19765839
TBX1DiGeorge syndromeLikely benign
(Aug 7, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr22:19753365
GRCh38:
Chr22:19765842
TBX1DiGeorge syndromeLikely benign
(Sep 17, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr22:19754151
GRCh38:
Chr22:19766628
TBX1K417Q, K426QDiGeorge syndromeUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr22:19753431
GRCh38:
Chr22:19765908
TBX1DiGeorge syndromeLikely benign
(Mar 12, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr22:19754343
GRCh38:
Chr22:19766820
TBX1S490P, S481PDiGeorge syndromeUncertain significance
(Sep 14, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr22:19754303
GRCh38:
Chr22:19766780
TBX1DiGeorge syndromeLikely benign
(Sep 25, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr22:19752469
GRCh38:
Chr22:19764946
TBX1DiGeorge syndromeLikely benign
(Jan 11, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr22:19753439
GRCh38:
Chr22:19765916
TBX1R317L, R308LDiGeorge syndromeUncertain significance
(Aug 11, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr22:19748434
GRCh38:
Chr22:19760911
TBX1T14K, T23KDiGeorge syndromeUncertain significance
(Apr 26, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr22:19748551
GRCh38:
Chr22:19761028
TBX1C62Y, C53YDiGeorge syndromeUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr22:19748492
GRCh38:
Chr22:19760969
TBX1DiGeorge syndromeLikely benign
(Oct 17, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr22:19753536
GRCh38:
Chr22:19766013
TBX1DiGeorge syndromeLikely benign
(Oct 15, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr22:19748821
GRCh38:
Chr22:19761298
TBX1DiGeorge syndromeLikely benign
(May 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr22:19754243-19754244
GRCh38:
Chr22:19766720-19766721
TBX1DiGeorge syndromeUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr22:19748798
GRCh38:
Chr22:19761275
TBX1DiGeorge syndromeLikely benign
(Sep 14, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr22:19748672
GRCh38:
Chr22:19761149
TBX1DiGeorge syndromeLikely benign
(Oct 11, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr22:19748656
GRCh38:
Chr22:19761133
TBX1G88D, G97DDiGeorge syndromeUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr22:19751765
GRCh38:
Chr22:19764242
TBX1DiGeorge syndromeLikely benign
(Sep 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr22:19748415
GRCh38:
Chr22:19760892
TBX1C17RDiGeorge syndromeLikely benign
(Mar 5, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr22:19748481
GRCh38:
Chr22:19760958
TBX1A30T, A39TDiGeorge syndromeUncertain significance
(Dec 9, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr22:19753895
GRCh38:
Chr22:19766372
TBX1DiGeorge syndromeLikely benign
(Oct 4, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr22:19752530
GRCh38:
Chr22:19765007
TBX1Y245C, Y254CDiGeorge syndromeUncertain significance
(Apr 10, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr22:19748569
GRCh38:
Chr22:19761046
TBX1G59D, G68DDiGeorge syndromeUncertain significance
(Apr 17, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr22:19753310
GRCh38:
Chr22:19765787
TBX1DiGeorge syndromeLikely benign
(Mar 1, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr22:19751777
GRCh38:
Chr22:19764254
TBX1DiGeorge syndromeLikely benign
(Oct 17, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr22:19753277
GRCh38:
Chr22:19765754
TBX1DiGeorge syndromeLikely benign
(May 29, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr22:19748580-19748582
GRCh38:
Chr22:19761057-19761059
TBX1P67del, P76delnot specified, DiGeorge syndromeUncertain significance
(Apr 11, 2023)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr22:19754285-19754286
GRCh38:
Chr22:19766762-19766763
TBX1DiGeorge syndromeUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr22:19754340-19754342
GRCh38:
Chr22:19766817-19766819
TBX1S481del, S490delDiGeorge syndromeUncertain significance
(Sep 22, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr22:19748458
GRCh38:
Chr22:19760935
TBX1G31V, G22VDiGeorge syndromeUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr22:19754309
GRCh38:
Chr22:19766786
TBX1DiGeorge syndromeLikely benign
(Aug 29, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr22:19748536
GRCh38:
Chr22:19761013
TBX1P57L, P48LDiGeorge syndromeUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr22:19748794
GRCh38:
Chr22:19761271
TBX1K134R, K143RDiGeorge syndromeUncertain significance
(Oct 16, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr22:19753942
GRCh38:
Chr22:19766419
TBX1R347H, R356HDiGeorge syndromeUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr22:19750833
GRCh38:
Chr22:19763310
TBX1M160I, M169IDiGeorge syndromeUncertain significance
(Sep 17, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr22:19753479
GRCh38:
Chr22:19765956
TBX1DiGeorge syndromeLikely benign
(Sep 27, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr22:19753275
GRCh38:
Chr22:19765752
TBX1DiGeorge syndromeLikely benign
(Apr 28, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr22:19753322
GRCh38:
Chr22:19765799
TBX1DiGeorge syndromeLikely benign
(Apr 8, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr22:19754158
GRCh38:
Chr22:19766635
TBX1P419R, P428RDiGeorge syndromeUncertain significance
(May 8, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr22:19748562-19748563
GRCh38:
Chr22:19761039-19761040
TBX1G59fs, G68fsDiGeorge syndromePathogenic
(May 3, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr22:19754216
GRCh38:
Chr22:19766693
TBX1DiGeorge syndromeLikely benign
(Apr 1, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr22:19753440-19753451
GRCh38:
Chr22:19765917-19765928
TBX1DiGeorge syndromeUncertain significance
(Mar 3, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr22:19753945
GRCh38:
Chr22:19766422
TBX1D348G, D357GDiGeorge syndromeUncertain significance
(Feb 20, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr22:19748522
GRCh38:
Chr22:19760999
TBX1DiGeorge syndromeLikely benign
(Feb 7, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr22:19750809
GRCh38:
Chr22:19763286
TBX1DiGeorge syndromeLikely benign
(Feb 3, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr22:19753274
GRCh38:
Chr22:19765751
TBX1DiGeorge syndromeLikely benign
(Feb 22, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr22:19753964-19753965
GRCh38:
Chr22:19766441-19766442
TBX1L364I, L355IDiGeorge syndromeUncertain significance
(Feb 8, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr22:19753525
GRCh38:
Chr22:19766002
TBX1D337N, D346N, G337R, G337SDiGeorge syndromeUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr22:19750796
GRCh38:
Chr22:19763273
TBX1F157S, F148SDiGeorge syndromeUncertain significance
(Jan 21, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr22:19748523-19748582
GRCh38:
Chr22:19761000-19761059
TBX1DiGeorge syndromeUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr22:19748593
GRCh38:
Chr22:19761070
TBX1P67L, P76LDiGeorge syndromeUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr22:19748625
GRCh38:
Chr22:19761102
TBX1A78S, A87SDiGeorge syndromeUncertain significance
(Apr 11, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr22:19748596
GRCh38:
Chr22:19761073
TBX1H77L, H68LDiGeorge syndromeUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr22:19754141-19754142
GRCh38:
Chr22:19766618-19766619
TBX1DiGeorge syndromeUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr22:19754135
GRCh38:
Chr22:19766612
TBX1DiGeorge syndromeLikely benign
(Apr 26, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr22:19754036
GRCh38:
Chr22:19766513
TBX1DiGeorge syndromeLikely benign
(Mar 20, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr22:19754309-19754310
GRCh38:
Chr22:19766786-19766787
TBX1DiGeorge syndromeUncertain significance
(Oct 21, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr22:19754285
GRCh38:
Chr22:19766762
TBX1DiGeorge syndromeLikely benign
(Feb 24, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr22:19753367
GRCh38:
Chr22:19765844
TBX1DiGeorge syndromeLikely benign
(May 8, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr22:19748578
GRCh38:
Chr22:19761055
TBX1G62D, G71DDiGeorge syndromeUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr22:19748470
GRCh38:
Chr22:19760947
TBX1G26V, G35VDiGeorge syndromeUncertain significance
(Oct 31, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr22:19754231
GRCh38:
Chr22:19766708
TBX1DiGeorge syndromeLikely benign
(Jun 27, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr22:19753898
GRCh38:
Chr22:19766375
TBX1DiGeorge syndromeLikely benign
(Oct 17, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr22:19754295-19754303
GRCh38:
Chr22:19766772-19766780
TBX1DiGeorge syndromeLikely benign
(Oct 7, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr22:19753970
GRCh38:
Chr22:19766447
TBX1DiGeorge syndromeLikely benign
(Aug 16, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr22:19753900
GRCh38:
Chr22:19766377
TBX1DiGeorge syndromeLikely benign
(Sep 10, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr22:19753359-19753360
GRCh38:
Chr22:19765836-19765837
TBX1DiGeorge syndromeBenign
(May 31, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr22:19748768
GRCh38:
Chr22:19761245
TBX1Q125H, Q134HDiGeorge syndromeUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr22:19753419
GRCh38:
Chr22:19765896
TBX1DiGeorge syndromeLikely benign
(Sep 10, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr22:19751798
GRCh38:
Chr22:19764275
TBX1DiGeorge syndromeLikely benign
(Sep 1, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr22:19753949
GRCh38:
Chr22:19766426
TBX1Cardiovascular phenotype, DiGeorge syndromeLikely benign
(Mar 7, 2023)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr22:19751711
GRCh38:
Chr22:19764188
TBX1DiGeorge syndromeLikely benign
(Jan 21, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr22:19754249-19754250
GRCh38:
Chr22:19766726-19766727
TBX1A459fs, A450fsDiGeorge syndromeUncertain significance
(Oct 1, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr22:19748651
GRCh38:
Chr22:19761128
TBX1DiGeorge syndromeLikely benign
(Sep 26, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr22:19748594
GRCh38:
Chr22:19761071
TBX1DiGeorge syndromeLikely benign
(Sep 24, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr22:19753901
GRCh38:
Chr22:19766378
TBX1DiGeorge syndromeUncertain significance
(Oct 2, 2022)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination