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 10976

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh38:
Chr11:108358364-108376364
ATM, C11orf65Ataxia-telangiectasia syndromePathogenic
(Aug 24, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr11:108202214
GRCh38:
Chr11:108331487
ATM, C11orf65M2520TAtaxia-telangiectasia syndromeUncertain significance
(Jul 21, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr11:108236074
GRCh38:
Chr11:108365347
ATM, C11orf65K3004*Ataxia-telangiectasia syndromePathogenic
(Jul 8, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr11:108139136
GRCh38:
Chr11:108268409
ATMAtaxia-telangiectasia syndromeLikely pathogenicno assertion criteria provided
5.
GRCh37:
Chr11:108235865
GRCh38:
Chr11:108365138
ATM, C11orf65Y2969*Ataxia-telangiectasia syndromeLikely pathogenicno assertion criteria provided
6.
GRCh37:
Chr11:108165741
GRCh38:
Chr11:108295014
ATME1622*Ataxia-telangiectasia syndromePathogenicno assertion criteria provided
7.
GRCh37:
Chr11:108224553
GRCh38:
Chr11:108353826
ATM, C11orf65R2912fsAtaxia-telangiectasia syndromePathogenic
(May 11, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr11:108122572-108122573
GRCh38:
Chr11:108251845-108251846
ATMC540fsFamilial cancer of breast, Ataxia-telangiectasia syndromeLikely pathogenic
(Jan 1, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr11:108115681
GRCh38:
Chr11:108244954
ATME277fsAtaxia-telangiectasia syndromeLikely pathogenic
(Apr 1, 2023)
criteria provided, single submitter
10.
GRCh37:
Chr11:108160502
GRCh38:
Chr11:108289775
ATMY1470*Ataxia-telangiectasia syndromeLikely pathogenic
(Apr 4, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr11:108099978
GRCh38:
Chr11:108229251
ATMQ87EAtaxia-telangiectasia syndromeUncertain significance
(Dec 13, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:108196215
GRCh38:
Chr11:108325488
ATM, C11orf65L2251fsAtaxia-telangiectasia syndromeLikely pathogenic
(Jun 8, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:108192135
GRCh38:
Chr11:108321408
ATM, C11orf65E2187fsAtaxia-telangiectasia syndromePathogenic
(Feb 17, 2023)
criteria provided, single submitter
14.
GRCh37:
Chr11:108235789-108236235
ATMAtaxia-telangiectasia syndromeUncertain significance
(Nov 2, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:108106377-108236235
ATMAtaxia-telangiectasia syndromeUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:108098352-108236235
ATMAtaxia-telangiectasia syndromeUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:108224473-108332286
ATM, C11orf65Ataxia-telangiectasia syndromePathogenic
(Oct 23, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:108163336-108170622
ATMAtaxia-telangiectasia syndromeLikely pathogenic
(Jul 6, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr11:108098352-108098615
ATMAtaxia-telangiectasia syndromePathogenic
(Feb 21, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:108115586-108118919
ATMAtaxia-telangiectasia syndromeLikely pathogenic
(Apr 15, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:108114117-108115618
ATMAtaxia-telangiectasia syndromeLikely pathogenic
(Feb 28, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:108170929-108196046
ATMAtaxia-telangiectasia syndromeUncertain significance
(Nov 5, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr11:108156908-108160358
ATMAtaxia-telangiectasia syndromePathogenic
(Aug 23, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr11:108114670-108236235
ATMAtaxia-telangiectasia syndromeUncertain significance
(Sep 11, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:108106387-108119839
ATMAtaxia-telangiectasia syndromeLikely pathogenic
(Oct 12, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:108183089-108225611
ATMAtaxia-telangiectasia syndromeLikely pathogenic
(Oct 23, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr11:108099895-108119839
ATMAtaxia-telangiectasia syndromeUncertain significance
(Feb 8, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:108190671-108190795
ATMAtaxia-telangiectasia syndromeUncertain significance
(Mar 5, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:108114662-108115763
ATMAtaxia-telangiectasia syndromePathogenic
(Oct 28, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr11:108114660-108181062
ATMAtaxia-telangiectasia syndromePathogenic
(Aug 16, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:108186540-108196962
ATMAtaxia-telangiectasia syndromePathogenic
(Oct 11, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:108099885-108225621
ATMAtaxia-telangiectasia syndromePathogenic
(Dec 27, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr11:108159694-108160538
ATMAtaxia-telangiectasia syndromeUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:108153427-108236235
ATMAtaxia-telangiectasia syndromePathogenic
(Dec 23, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr11:108098352-108129822
ATMAtaxia-telangiectasia syndromePathogenic
(Feb 11, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr11:108137888-108155210
ATMAtaxia-telangiectasia syndromePathogenic
(Nov 26, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr11:108093770-108164214
ATMAtaxia-telangiectasia syndromePathogenic
(Mar 26, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr11:108093770-108098625
ATMAtaxia-telangiectasia syndromePathogenic
(Dec 17, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr11:108158313
GRCh38:
Chr11:108287586
ATMAtaxia-telangiectasia syndromeLikely benign
(Mar 11, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:108139353
GRCh38:
Chr11:108268626
ATMAtaxia-telangiectasia syndromeLikely benign
(Feb 3, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:108235791
GRCh38:
Chr11:108365064
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(Oct 3, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:108196024
GRCh38:
Chr11:108325297
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(Jul 30, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:108205737
GRCh38:
Chr11:108335010
ATM, C11orf65Q2684HAtaxia-telangiectasia syndromeUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:108165786
GRCh38:
Chr11:108295059
ATMD1637HAtaxia-telangiectasia syndromeUncertain significance
(Jul 1, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:108121764
GRCh38:
Chr11:108251037
ATMW524*Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndromePathogenic
(Apr 10, 2023)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:108115627
GRCh38:
Chr11:108244900
ATML259FAtaxia-telangiectasia syndromeUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr11:108168031
GRCh38:
Chr11:108297304
ATMI1643FAtaxia-telangiectasia syndromeUncertain significance
(Jan 20, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:108115536
GRCh38:
Chr11:108244809
ATMAtaxia-telangiectasia syndrome, Hereditary cancer-predisposing syndromeLikely benign
(Nov 20, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr11:108143490
GRCh38:
Chr11:108272763
ATMD1067fsAtaxia-telangiectasia syndromePathogenic
(Jun 29, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr11:108164169-108164170
GRCh38:
Chr11:108293442-108293443
ATMI1581fsAtaxia-telangiectasia syndrome, Hereditary cancer-predisposing syndromePathogenic
(Jan 4, 2023)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr11:108170437
GRCh38:
Chr11:108299710
ATMAtaxia-telangiectasia syndromeLikely benign
(Oct 8, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr11:108190682
GRCh38:
Chr11:108319955
ATM, C11orf65K2117EAtaxia-telangiectasia syndromeUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:108203466-108203472
GRCh38:
Chr11:108332739-108332745
ATM, C11orf65Ataxia-telangiectasia syndromeUncertain significance
(May 3, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:108188130
GRCh38:
Chr11:108317403
ATM, C11orf65L2077FAtaxia-telangiectasia syndromeUncertain significance
(Sep 22, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:108199984
GRCh38:
Chr11:108329257
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(Mar 12, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:108217992
GRCh38:
Chr11:108347265
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(Aug 22, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:108150257
GRCh38:
Chr11:108279530
ATMAtaxia-telangiectasia syndrome, Hereditary cancer-predisposing syndromeLikely benign
(Nov 15, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:108154938
GRCh38:
Chr11:108284211
ATMAtaxia-telangiectasia syndromeLikely benign
(Oct 8, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:108098442
GRCh38:
Chr11:108227715
ATMAtaxia-telangiectasia syndromeLikely benign
(Mar 11, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:108173775
GRCh38:
Chr11:108303048
ATMAtaxia-telangiectasia syndromeLikely benign
(Oct 20, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:108098489
GRCh38:
Chr11:108227762
ATMAtaxia-telangiectasia syndromeLikely benign
(Sep 27, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:108235957
GRCh38:
Chr11:108365230
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(May 12, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:108139348
GRCh38:
Chr11:108268621
ATMAtaxia-telangiectasia syndromeLikely benign
(Sep 26, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:108151764
GRCh38:
Chr11:108281037
ATMN1149DAtaxia-telangiectasia syndromeUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:108143282
GRCh38:
Chr11:108272555
ATMY1034CAtaxia-telangiectasia syndromeUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:108100016
GRCh38:
Chr11:108229289
ATMS99RAtaxia-telangiectasia syndromeUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:108137885
GRCh38:
Chr11:108267158
ATMAtaxia-telangiectasia syndromeLikely benign
(Apr 7, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr11:108224473
GRCh38:
Chr11:108353746
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(Mar 27, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:108218093
GRCh38:
Chr11:108347366
ATM, C11orf65Ataxia-telangiectasia syndromeLikely pathogenic
(May 7, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:108153578
GRCh38:
Chr11:108282851
ATMN1240YAtaxia-telangiectasia syndromeUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr11:108165800
GRCh38:
Chr11:108295073
ATMAtaxia-telangiectasia syndromeLikely benign
(Oct 17, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:108196794
GRCh38:
Chr11:108326067
ATM, C11orf65R2273GAtaxia-telangiectasia syndromeUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:108203473
GRCh38:
Chr11:108332746
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(May 19, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:108205849
GRCh38:
Chr11:108335122
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(Nov 4, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:108160432
GRCh38:
Chr11:108289705
ATMS1447NAtaxia-telangiectasia syndromeUncertain significance
(Jan 20, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr11:108225524-108225525
GRCh38:
Chr11:108354797-108354798
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(Sep 13, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:108181034
GRCh38:
Chr11:108310307
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(Jun 6, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr11:108099967
GRCh38:
Chr11:108229240
ATMS83LAtaxia-telangiectasia syndromeUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr11:108117867
GRCh38:
Chr11:108247140
ATMAtaxia-telangiectasia syndromeLikely benign
(Feb 10, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:108122622
GRCh38:
Chr11:108251895
ATMK556EAtaxia-telangiectasia syndromeUncertain significance
(Mar 5, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:108160514
GRCh38:
Chr11:108289787
ATMH1474QAtaxia-telangiectasia syndromeUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr11:108143310
GRCh38:
Chr11:108272583
ATMN1044fsAtaxia-telangiectasia syndromePathogenic
(Aug 20, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr11:108121662
GRCh38:
Chr11:108250935
ATMI490MAtaxia-telangiectasia syndromeUncertain significance
(May 8, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:108180896
GRCh38:
Chr11:108310169
C11orf65, ATMAtaxia-telangiectasia syndromeLikely benign
(May 7, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:108115673
GRCh38:
Chr11:108244946
ATMS274YAtaxia-telangiectasia syndromeUncertain significance
(Jul 16, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:108143587
GRCh38:
Chr11:108272860
ATMAtaxia-telangiectasia syndromeLikely benign
(Feb 13, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr11:108188222
GRCh38:
Chr11:108317495
ATM, C11orf65M2107IAtaxia-telangiectasia syndromeUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:108150351
GRCh38:
Chr11:108279624
ATMAtaxia-telangiectasia syndromeLikely benign
(May 24, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr11:108186776
GRCh38:
Chr11:108316049
C11orf65, ATMAtaxia-telangiectasia syndromePathogenic
(Feb 25, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr11:108137915
GRCh38:
Chr11:108267188
ATMAtaxia-telangiectasia syndromeLikely benign
(Jul 10, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:108186846
GRCh38:
Chr11:108316119
ATM, C11orf65Ataxia-telangiectasia syndromeBenign
(Sep 3, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:108199980
GRCh38:
Chr11:108329253
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(Apr 21, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:108155136
GRCh38:
Chr11:108284409
ATMQ1310RAtaxia-telangiectasia syndromeUncertain significance
(Aug 7, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:108138088
GRCh38:
Chr11:108267361
ATMAtaxia-telangiectasia syndromeLikely benign
(Sep 1, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:108139352
GRCh38:
Chr11:108268625
ATMAtaxia-telangiectasia syndromeLikely benign
(Mar 18, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:108172519-108172521
GRCh38:
Chr11:108301792-108301794
ATMAtaxia-telangiectasia syndromeUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:108115642
GRCh38:
Chr11:108244915
ATMY264HAtaxia-telangiectasia syndromeUncertain significance
(May 29, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr11:108205683
GRCh38:
Chr11:108334956
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(May 21, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr11:108128195
GRCh38:
Chr11:108257468
ATMAtaxia-telangiectasia syndromeLikely benign
(Mar 14, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:108216654-108216670
GRCh38:
Chr11:108345927-108345943
ATM, C11orf65Ataxia-telangiectasia syndromeLikely benign
(Oct 12, 2022)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination