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Links from Gene

Items: 1 to 100 of 5062

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:37092000-37092001
GRCh38:
Chr3:37050509-37050510
MLH1S353*, S370*, S470*, S613*, S642*, S656*, S678*, S680*, S711*Lynch syndrome 1Likely pathogenicno assertion criteria provided
2.
GRCh37:
Chr3:37067255
GRCh38:
Chr3:37025764
MLH1E149fs, E292fs, E32fs, E357fs, E390fs, E49fsLynch syndrome 1Likely pathogenicno assertion criteria provided
3.
GRCh37:
Chr3:37048482
GRCh38:
Chr3:37006991
MLH1R127S, R29S, R94Snot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr3:37067151
GRCh38:
Chr3:37025660
MLH1S258fs, S115fs, S323fs, S356fs, S15fsHereditary cancer-predisposing syndromePathogenic
(Nov 8, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr3:37081702
GRCh38:
Chr3:37040211
MLH1H495Q, H528Q, H170Q, H287Q, H187Q, H430QHereditary cancer-predisposing syndromeUncertain significance
(Feb 9, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr3:37067190
GRCh38:
Chr3:37025699
MLH1Hereditary cancer-predisposing syndromeLikely benign
(Feb 18, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr3:37067169
GRCh38:
Chr3:37025678
MLH1Hereditary cancer-predisposing syndromeLikely benign
(Mar 9, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr3:37090473
GRCh38:
Chr3:37048982
MLH1Y635H, Y332H, Y349H, Y449H, Y592H, Y659H, Y690H, Y657HHereditary cancer-predisposing syndromeUncertain significance
(Mar 8, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr3:37056005
GRCh38:
Chr3:37014514
MLH1K156*, K13*, K221*, K254*Hereditary cancer-predisposing syndromeLikely pathogenic
(Mar 16, 2023)
criteria provided, single submitter
10.
GRCh37:
Chr3:37083771
GRCh38:
Chr3:37042280
MLH1F219L, F319L, F202L, F527L, F560L, F462LHereditary cancer-predisposing syndromeUncertain significance
(Mar 14, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr3:37067314-37067315
GRCh38:
Chr3:37025823-37025824
MLH1A377fs, A169fs, A312fs, A410fs, A52fs, A69fsHereditary cancer-predisposing syndromePathogenic
(Mar 9, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr3:37048527-37048532
GRCh38:
Chr3:37007036-37007041
MLH1C142fs, C44fs, C109fsHereditary cancer-predisposing syndromePathogenic
(Feb 22, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr3:37045965-37045966
GRCh38:
Chr3:37004474-37004475
MLH1Hereditary cancer-predisposing syndromeLikely pathogenic
(Feb 28, 2023)
criteria provided, single submitter
14.
GRCh37:
Chr3:37081706
GRCh38:
Chr3:37040215
MLH1F289L, F172L, F189L, F432L, F497L, F530LHereditary cancer-predisposing syndromeUncertain significance
(Feb 22, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr3:37067333
GRCh38:
Chr3:37025842
MLH1D57G, D317G, D415G, D74G, D382G, D174GHereditary cancer-predisposing syndromeUncertain significance
(Feb 3, 2023)
criteria provided, single submitter
16.
GRCh37:
Chr3:37081747
GRCh38:
Chr3:37040256
MLH1H302Q, H185Q, H445Q, H510Q, H543Q, H202QHereditary cancer-predisposing syndromeUncertain significance
(Jan 19, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr3:37089081
GRCh38:
Chr3:37047590
MLH1Hereditary cancer-predisposing syndromeLikely benign
(Jan 18, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr3:37055960
GRCh38:
Chr3:37014469
MLH1A141S, A239S, A206SHereditary cancer-predisposing syndromeUncertain significance
(Jan 17, 2023)
criteria provided, single submitter
19.
GRCh37:
Chr3:37035057
GRCh38:
Chr3:36993566
MLH1V7LHereditary cancer-predisposing syndromeUncertain significance
(Feb 1, 2023)
criteria provided, single submitter
20.
GRCh37:
Chr3:37067272
GRCh38:
Chr3:37025781
MLH1A297T, A37T, A395T, A362T, A154T, A54THereditary cancer-predisposing syndromeUncertain significance
(Jan 26, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr3:37035137
GRCh38:
Chr3:36993646
MLH1Hereditary cancer-predisposing syndromeLikely benign
(Dec 27, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr3:37035034
GRCh38:
Chr3:36993543
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Jan 10, 2023)
criteria provided, single submitter
23.
GRCh37:
Chr3:37059053
GRCh38:
Chr3:37017562
MLH1Y250H, Y283H, Y185H, Y42HHereditary cancer-predisposing syndromeUncertain significance
(Jan 5, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr3:37038109
GRCh38:
Chr3:36996618
MLH1Hereditary cancer-predisposing syndromeLikely pathogenic
(Dec 20, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr3:37038105
GRCh38:
Chr3:36996614
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Dec 19, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr3:37053566-37053568
GRCh38:
Chr3:37012075-37012077
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Dec 14, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr3:37092049
GRCh38:
Chr3:37050558
MLH1S657T, S671T, S485T, S693T, S368T, S385T, S726T, S628T, S695THereditary cancer-predisposing syndromeUncertain significance
(Nov 26, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr3:37059014
GRCh38:
Chr3:37017523
MLH1T237S, T172S, T270S, T29SHereditary cancer-predisposing syndromeUncertain significance
(Dec 9, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:37067413
GRCh38:
Chr3:37025922
MLH1A344T, A442T, A101T, A201T, A409T, A84THereditary cancer-predisposing syndromeUncertain significance
(Dec 8, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr3:37067271
GRCh38:
Chr3:37025780
MLH1D153E, D361E, D53E, D296E, D36E, D394EHereditary cancer-predisposing syndromeUncertain significance
(Nov 25, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr3:37053531
GRCh38:
Chr3:37012040
MLH1Hereditary cancer-predisposing syndromeLikely benign
(Nov 23, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr3:37053536
GRCh38:
Chr3:37012045
MLH1P208H, P175H, P110HHereditary cancer-predisposing syndromeUncertain significance
(Dec 7, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr3:37089121-37089123
GRCh38:
Chr3:37047630-37047632
MLH1L582del, L374del, L517del, L257del, L274del, L615delHereditary cancer-predisposing syndromeLikely pathogenic
(Dec 9, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr3:37091973
GRCh38:
Chr3:37050482
MLH1Hereditary cancer-predisposing syndromeLikely benign
(Nov 23, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr3:37038143
GRCh38:
Chr3:36996652
MLH1I50MHereditary cancer-predisposing syndromeUncertain significance
(Nov 10, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr3:37065387
GRCh38:
Chr3:37023896
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Nov 10, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr3:37045896-37045897
GRCh38:
Chr3:37004405-37004406
MLH1A105fs, A72fs, A7fsHereditary cancer-predisposing syndromePathogenic
(Nov 21, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr3:37089092
GRCh38:
Chr3:37047601
MLH1E507G, E364G, E247G, E264G, E605G, E572GHereditary cancer-predisposing syndromeUncertain significance
(Nov 14, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr3:37083783
GRCh38:
Chr3:37042292
MLH1Hereditary cancer-predisposing syndromeUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr3:37090415
GRCh38:
Chr3:37048924
MLH1E638fs, E640fs, E313fs, E330fs, E430fs, E671fs, E573fs, E616fsHereditary cancer-predisposing syndromePathogenic
(Nov 10, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr3:37053311
GRCh38:
Chr3:37011820
MLH1Hereditary cancer-predisposing syndromeLikely benign
(Mar 2, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr3:37035138
GRCh38:
Chr3:36993647
MLH1E34*Hereditary cancer-predisposing syndromePathogenic
(Jan 20, 2023)
criteria provided, single submitter
43.
GRCh37:
Chr3:37035033
GRCh38:
Chr3:36993542
MLH1not providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr3:37090415
GRCh38:
Chr3:37048924
MLH1K312N, K329N, K429N, K572N, K615N, K637N, K639N, K670Nnot providedUncertain significance
(Mar 14, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr3:37089043
GRCh38:
Chr3:37047552
MLH1A231P, A248P, A348P, A491P, A556P, A589PColorectal cancer, hereditary nonpolyposis, type 2Uncertain significance
(May 27, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr3:37089353
GRCh38:
Chr3:37047862
MLH1Lung adenocarcinomaUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr3:37038546
GRCh38:
Chr3:36997055
MLH1Lung adenocarcinomaUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr3:37055686-37055687
GRCh38:
Chr3:37014195-37014196
MLH1Lung adenocarcinomaUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr3:37036171
GRCh38:
Chr3:36994680
MLH1Squamous cell carcinomaUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr3:37070347-37070348
GRCh38:
Chr3:37028856-37028857
MLH1T137fs, T154fs, T254fs, T397fs, T462fs, T495fsEndometrial carcinomaPathogenic
(Feb 21, 2023)
no assertion criteria provided
51.
GRCh37:
Chr3:37053565
GRCh38:
Chr3:37012074
MLH1S120T, S185T, S218Tnot providedUncertain significance
(Sep 14, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr3:37034542-37035260
EPM2AIP1, MLH1Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Aug 13, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr3:37034542-37035164
MLH1, EPM2AIP1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(May 19, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr3:37034870-37035863
MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Dec 10, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr3:37050291-37061964
MLH1Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Mar 2, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr3:37038099-37042554
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely pathogenic
(Sep 21, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr3:37089998-37092144
MLH1Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(May 10, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr3:37081667-37083832
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely pathogenic
(Oct 3, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr3:37034542-37042554
EPM2AIP1, MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Aug 8, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr3:37034542-37061964
MLH1, EPM2AIP1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Aug 16, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr3:37050291-37061964
MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Nov 5, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr3:37061789-37083832
MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Oct 7, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr3:37037900-37038207
MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Aug 11, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr3:37061789-37061964
MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Apr 8, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr3:37067313-37067347
GRCh38:
Chr3:37025822-37025856
MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Apr 4, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr3:37090049
GRCh38:
Chr3:37048558
MLH1Y591*, Y613*, Y305*, Y548*, Y288*, Y405*, Y646*Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Oct 3, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr3:37090016
GRCh38:
Chr3:37048525
MLH1N635K, N580K, N537K, N277K, N602K, N294K, N394KHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Aug 6, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr3:37081781
GRCh38:
Chr3:37040290
MLH1L522V, L197V, L214V, L555V, L314V, L457VHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr3:37053346
GRCh38:
Chr3:37011855
MLH1K196fs, K163fs, K98fsHereditary nonpolyposis colorectal neoplasmsPathogenic
(Sep 12, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr3:37050399-37050400
GRCh38:
Chr3:37008908-37008909
MLH1Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Aug 24, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr3:37050291
GRCh38:
Chr3:37008800
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Jul 22, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:37035103
GRCh38:
Chr3:36993612
MLH1G22EHereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 7, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr3:37048569
GRCh38:
Chr3:37007078
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Aug 16, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr3:37090473
GRCh38:
Chr3:37048982
MLH1Y659D, Y449D, Y592D, Y635D, Y690D, Y332D, Y657D, Y349DHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr3:37034562
GRCh38:
Chr3:36993071
MLH1, EPM2AIP1M3VHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr3:37042429
GRCh38:
Chr3:37000938
MLH1Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Apr 30, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr3:37035140
GRCh38:
Chr3:36993649
MLH1E34DHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr3:37035174
GRCh38:
Chr3:36993683
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Dec 25, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr3:37035173
GRCh38:
Chr3:36993682
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Feb 18, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr3:37053354
GRCh38:
Chr3:37011863
MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Aug 27, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr3:37050362
GRCh38:
Chr3:37008871
MLH1E138K, E73K, E171KHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Jun 3, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr3:37081711
GRCh38:
Chr3:37040220
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Oct 4, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr3:37067234
GRCh38:
Chr3:37025743
MLH1Q141R, Q349R, Q41R, Q24R, Q284R, Q382RHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Sep 10, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr3:37053365
GRCh38:
Chr3:37011874
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Sep 14, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr3:37090038
GRCh38:
Chr3:37048547
MLH1I302V, I545V, I402V, I588V, I610V, I285V, I643VHereditary nonpolyposis colorectal neoplasmsUncertain significance
(May 5, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr3:37092138
GRCh38:
Chr3:37050647
MLH1R686S, R722S, R724S, R414S, R514S, R657S, R700S, R755S, R397SHereditary nonpolyposis colorectal neoplasmsUncertain significance
(May 4, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr3:37081775-37081778
GRCh38:
Chr3:37040284-37040287
MLH1T195fs, T553fs, T212fs, T455fs, T520fs, T312fsHereditary nonpolyposis colorectal neoplasmsPathogenic
(May 4, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr3:37067414
GRCh38:
Chr3:37025923
MLH1A101V, A409V, A84V, A442V, A201V, A344VHereditary nonpolyposis colorectal neoplasmsUncertain significance
(May 28, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr3:37053491
GRCh38:
Chr3:37012000
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Apr 29, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:37070268
GRCh38:
Chr3:37028777
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(May 27, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr3:37053596
GRCh38:
Chr3:37012105
MLH1Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Apr 26, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr3:37050403
GRCh38:
Chr3:37008912
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Apr 23, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr3:37050288
GRCh38:
Chr3:37008797
MLH1Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr3:37091960
GRCh38:
Chr3:37050469
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Apr 21, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr3:37089105
GRCh38:
Chr3:37047614
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Apr 20, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr3:37081723
GRCh38:
Chr3:37040232
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Oct 3, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr3:37042438
GRCh38:
Chr3:37000947
MLH1Hereditary nonpolyposis colorectal neoplasmsUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr3:37083835
GRCh38:
Chr3:37042344
MLH1Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Apr 4, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr3:37055996
GRCh38:
Chr3:37014505
MLH1Y218H, Y10H, Y251H, Y153HHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr3:37059030
GRCh38:
Chr3:37017539
MLH1Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Apr 1, 2022)
criteria provided, single submitter
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