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Links from MedGen

Items: 1 to 100 of 741

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:100226866-100227005
TFR2Hereditary hemochromatosisUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr7:100218504
GRCh38:
Chr7:100620881
TFR2Hereditary hemochromatosisLikely benign
(Jul 31, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr7:100229460-100229464
GRCh38:
Chr7:100631837-100631841
TFR2Q186fs, Q357fsHereditary hemochromatosisPathogenic
(Mar 28, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr7:100225720
GRCh38:
Chr7:100628097
TFR2V334M, V505MHereditary hemochromatosisUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr7:100225833
GRCh38:
Chr7:100628210
TFR2Hereditary hemochromatosisLikely benign
(Mar 11, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr7:100218644
GRCh38:
Chr7:100621021
TFR2Hereditary hemochromatosisLikely benign
(Apr 30, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr7:100229816
GRCh38:
Chr7:100632193
TFR2Hereditary hemochromatosisLikely benign
(Sep 16, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr7:100238513
GRCh38:
Chr7:100640890
TFR2Hereditary hemochromatosisLikely benign
(Sep 14, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr6:26093128
GRCh38:
Chr6:26092900
HFEQ176*, Q255*, Q264*, Q172*, Q186*, Q275*, Q278*, Q190*, Q98*Hereditary hemochromatosisPathogenic
(Sep 19, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr7:100230753
GRCh38:
Chr7:100633130
TFR2Hereditary hemochromatosisLikely benign
(Aug 4, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr7:100229449
GRCh38:
Chr7:100631826
TFR2Hereditary hemochromatosisLikely benign
(Oct 28, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr7:100226961
GRCh38:
Chr7:100629338
TFR2Hereditary hemochromatosisLikely benign
(Jan 11, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr7:100228590
GRCh38:
Chr7:100630967
TFR2R398G, R227GHereditary hemochromatosisUncertain significance
(May 28, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr7:100225760
GRCh38:
Chr7:100628137
TFR2Hereditary hemochromatosisLikely pathogenic
(Oct 7, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr7:100225730
GRCh38:
Chr7:100628107
TFR2Hereditary hemochromatosisLikely benign
(Jun 14, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr7:100229434
GRCh38:
Chr7:100631811
TFR2Hereditary hemochromatosisLikely benign
(Aug 30, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr7:100218559
GRCh38:
Chr7:100620936
TFR2L605P, L776PHereditary hemochromatosisUncertain significance
(Aug 4, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr7:100225432
GRCh38:
Chr7:100627809
TFR2Hereditary hemochromatosisLikely benign
(Oct 6, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr7:100225449
GRCh38:
Chr7:100627826
TFR2Hereditary hemochromatosisLikely benign
(Aug 19, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr6:26093055
GRCh38:
Chr6:26092827
HFEHereditary hemochromatosisLikely benign
(Sep 16, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr7:100224389
GRCh38:
Chr7:100626766
LOC113687175, TFR2M711I, M540IHereditary hemochromatosisUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr7:100218756
GRCh38:
Chr7:100621133
TFR2Hereditary hemochromatosisLikely benign
(Oct 5, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr6:26093076
GRCh38:
Chr6:26092848
HFEHereditary hemochromatosisLikely benign
(Dec 19, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr7:100225520
GRCh38:
Chr7:100627897
TFR2Hereditary hemochromatosisLikely benign
(Dec 24, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr7:100225118
GRCh38:
Chr7:100627495
TFR2Hereditary hemochromatosisLikely benign
(Aug 25, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr7:100231083
GRCh38:
Chr7:100633460
TFR2Hereditary hemochromatosisLikely benign
(Feb 8, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:26087692
GRCh38:
Chr6:26087464
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Dec 2, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr7:100238324
GRCh38:
Chr7:100640701
TFR2L153PHereditary hemochromatosisUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr7:100224534
GRCh38:
Chr7:100626911
LOC113687175, TFR2Hereditary hemochromatosisLikely benign
(Sep 27, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr7:100228531
GRCh38:
Chr7:100630908
TFR2Hereditary hemochromatosisLikely benign
(May 30, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr7:100225359
GRCh38:
Chr7:100627736
TFR2Hereditary hemochromatosisLikely benign
(Feb 18, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr7:100218669
GRCh38:
Chr7:100621046
TFR2Hereditary hemochromatosisLikely benign
(Oct 20, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr7:100224988
GRCh38:
Chr7:100627365
TFR2R461W, R632WHereditary hemochromatosisUncertain significance
(Sep 30, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr7:100230699
GRCh38:
Chr7:100633076
TFR2Hereditary hemochromatosisLikely benign
(Jun 26, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr6:26093339
GRCh38:
Chr6:26093111
HFEHereditary hemochromatosisLikely benign
(Jun 10, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr7:100225215
GRCh38:
Chr7:100627592
TFR2Hereditary hemochromatosisLikely benign
(Oct 21, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr7:100218708
GRCh38:
Chr7:100621085
TFR2Hereditary hemochromatosisLikely benign
(May 6, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:26091344
GRCh38:
Chr6:26091116
HFEHereditary hemochromatosisLikely benign
(Sep 3, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr7:100224992
GRCh38:
Chr7:100627369
TFR2Hereditary hemochromatosisLikely benign
(May 24, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr7:100238868
GRCh38:
Chr7:100641245
TFR2Hereditary hemochromatosisLikely benign
(Aug 3, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr7:100224967
GRCh38:
Chr7:100627344
TFR2Hereditary hemochromatosisLikely benign
(Feb 23, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr7:100224366
GRCh38:
Chr7:100626743
LOC113687175, TFR2Hereditary hemochromatosisLikely benign
(Dec 23, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr7:100238449
GRCh38:
Chr7:100640826
TFR2Hereditary hemochromatosisLikely benign
(Sep 17, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:26091726
GRCh38:
Chr6:26091498
HFEHereditary hemochromatosisLikely benign
(Jan 26, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr7:100238434
GRCh38:
Chr7:100640811
TFR2Hereditary hemochromatosisLikely benign
(Jul 13, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr6:26091749
GRCh38:
Chr6:26091521
HFEL183P, L95P, L160PHereditary hemochromatosisPathogenic
(Oct 10, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr7:100226979-100226980
GRCh38:
Chr7:100629356-100629357
TFR2G259fs, G430fsHereditary hemochromatosisPathogenic
(Mar 31, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr7:100239100
GRCh38:
Chr7:100641477
TFR2Hereditary hemochromatosisUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr7:100225411
GRCh38:
Chr7:100627788
TFR2Hereditary hemochromatosisLikely benign
(May 14, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr7:100238786
GRCh38:
Chr7:100641163
TFR2H33QHereditary hemochromatosisUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr19:35773541
GRCh38:
Chr19:35282638
HAMPHereditary hemochromatosisLikely benign
(Sep 30, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr7:100231129-100231130
GRCh38:
Chr7:100633506-100633507
TFR2L175fs, L4fsHereditary hemochromatosisPathogenic
(Mar 15, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr7:100229461
GRCh38:
Chr7:100631838
TFR2Hereditary hemochromatosisLikely benign
(Sep 6, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr7:100218612
GRCh38:
Chr7:100620989
TFR2Hereditary hemochromatosisLikely benign
(Oct 24, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr7:100231101
GRCh38:
Chr7:100633478
TFR2Hereditary hemochromatosisLikely benign
(Oct 3, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr6:26091270
GRCh38:
Chr6:26091042
HFEG93V, G70VHereditary hemochromatosisUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr7:100228573
GRCh38:
Chr7:100630950
TFR2Hereditary hemochromatosisLikely benign
(May 29, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr7:100228665
GRCh38:
Chr7:100631042
TFR2G373R, G202RHereditary hemochromatosisUncertain significance
(May 3, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr7:100225575
GRCh38:
Chr7:100627952
TFR2Hereditary hemochromatosisLikely benign
(Jun 23, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr6:26091783
GRCh38:
Chr6:26091555
HFEHereditary hemochromatosisLikely benign
(Apr 21, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr7:100238693
GRCh38:
Chr7:100641070
TFR2R65fsHereditary hemochromatosisPathogenic
(Apr 21, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr7:100229698
GRCh38:
Chr7:100632075
TFR2Hereditary hemochromatosisLikely benign
(Apr 20, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr6:26093056
GRCh38:
Chr6:26092828
HFEK251*, K254*, K74*, K152*, K148*, K162*, K166*, K231*, K240*Hereditary hemochromatosisPathogenic
(Apr 16, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr7:100230897
GRCh38:
Chr7:100633274
TFR2Hereditary hemochromatosisLikely benign
(Apr 11, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr7:100229545
GRCh38:
Chr7:100631922
TFR2Y160fs, Y331fsHereditary hemochromatosisPathogenic
(Mar 26, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr7:100225194
GRCh38:
Chr7:100627571
TFR2Hereditary hemochromatosisUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr6:26093456
GRCh38:
Chr6:26093228
HFEHereditary hemochromatosisLikely benign
(Mar 13, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr7:100230687
GRCh38:
Chr7:100633064
TFR2Hereditary hemochromatosisLikely benign
(Mar 11, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr7:100218604-100218605
GRCh38:
Chr7:100620981-100620982
TFR2A590fs, A761fsHereditary hemochromatosisPathogenic
(Mar 14, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr6:26091193
GRCh38:
Chr6:26090965
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Mar 1, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr7:100225777
GRCh38:
Chr7:100628154
TFR2Hereditary hemochromatosisLikely benign
(Jun 11, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr7:100225934
GRCh38:
Chr7:100628311
TFR2Hereditary hemochromatosisLikely benign
(Feb 28, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr7:100229422
GRCh38:
Chr7:100631799
TFR2Hereditary hemochromatosisLikely benign
(Sep 18, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr7:100226916
GRCh38:
Chr7:100629293
TFR2Hereditary hemochromatosisLikely benign
(Feb 20, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr7:100238822
GRCh38:
Chr7:100641199
TFR2Hereditary hemochromatosisLikely benign
(Feb 6, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr7:100226916
GRCh38:
Chr7:100629293
TFR2Hereditary hemochromatosisLikely benign
(Feb 11, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr7:100230627
GRCh38:
Chr7:100633004
TFR2Hereditary hemochromatosisLikely benign
(Jan 26, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr7:100230861
GRCh38:
Chr7:100633238
TFR2Hereditary hemochromatosisLikely benign
(Jan 26, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr7:100230751
GRCh38:
Chr7:100633128
TFR2Hereditary hemochromatosisLikely benign
(May 25, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr7:100228603
GRCh38:
Chr7:100630980
TFR2P224fs, P395fsHereditary hemochromatosisPathogenic
(Jan 22, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr7:100218652
GRCh38:
Chr7:100621029
TFR2L574R, L745RHereditary hemochromatosisUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr7:100225448
GRCh38:
Chr7:100627825
TFR2Hereditary hemochromatosisLikely benign
(Jan 22, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr7:100224395
GRCh38:
Chr7:100626772
LOC113687175, TFR2Hereditary hemochromatosisLikely benign
(Jan 16, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr6:26087759
GRCh38:
Chr6:26087531
HFE, HFE-AS1Hereditary hemochromatosisLikely benign
(Oct 10, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr7:100230656
GRCh38:
Chr7:100633033
TFR2V273M, V102MHereditary hemochromatosisLikely benign
(Sep 3, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:26087691
GRCh38:
Chr6:26087463
HFE, HFE-AS1A8VHereditary hemochromatosisUncertain significance
(Sep 22, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr6:26093023
GRCh38:
Chr6:26092795
HFEK151E, K220E, K240E, K63E, K141E, K155E, K229E, K137E, K243EHereditary hemochromatosisUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr7:100231081
GRCh38:
Chr7:100633458
TFR2V191A, V20AHereditary hemochromatosisUncertain significance
(Dec 27, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr7:100225020
GRCh38:
Chr7:100627397
TFR2A450D, A621DHereditary hemochromatosisUncertain significance
(Dec 28, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr7:100224514
GRCh38:
Chr7:100626891
LOC113687175, TFR2T499P, T670PHereditary hemochromatosisUncertain significance
(Dec 28, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr7:100224917
GRCh38:
Chr7:100627294
TFR2Hereditary hemochromatosisLikely benign
(Oct 17, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr7:100229700
GRCh38:
Chr7:100632077
TFR2Hereditary hemochromatosisUncertain significance
(Aug 4, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr7:100225613
GRCh38:
Chr7:100627990
TFR2Hereditary hemochromatosisLikely benign
(Sep 19, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr7:100229439
GRCh38:
Chr7:100631816
TFR2R366C, R195CHereditary hemochromatosisUncertain significance
(Mar 7, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr7:100238796
GRCh38:
Chr7:100641173
TFR2R30QHereditary hemochromatosis, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Dec 15, 2022)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr7:100226907
GRCh38:
Chr7:100629284
TFR2Hereditary hemochromatosisLikely benign
(Nov 4, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr7:100225828
GRCh38:
Chr7:100628205
TFR2Hereditary hemochromatosisUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr7:100230702
GRCh38:
Chr7:100633079
TFR2Hereditary hemochromatosisLikely benign
(Oct 3, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr6:26091818
GRCh38:
Chr6:26091590
HFEHereditary hemochromatosisPathogenic
(Jul 22, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr7:100224968
GRCh38:
Chr7:100627345
TFR2Hereditary hemochromatosisLikely benign
(Aug 30, 2022)
criteria provided, single submitter
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