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Links from MedGen

Items: 1 to 100 of 158

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:100224426-100224429
GRCh38:
Chr7:100626803-100626806
LOC113687175, TFR2R527fs, R698fsHemochromatosis type 3Pathogenic
(Mar 21, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr7:100224528
GRCh38:
Chr7:100626905
LOC113687175, TFR2Hemochromatosis type 3Likely pathogenic
(Oct 11, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr7:100224484
GRCh38:
Chr7:100626861
LOC113687175, TFR2D509Y, D680YHemochromatosis type 3Likely pathogenic
(Apr 28, 2023)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr7:100225115
GRCh38:
Chr7:100627492
TFR2Hemochromatosis type 3Pathogenic
(Jun 22, 2020)
criteria provided, single submitter
5.
GRCh37:
Chr7:100230706
GRCh38:
Chr7:100633083
TFR2L256R, L85RHereditary hemochromatosisBenign
(Oct 25, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr7:100226961
GRCh38:
Chr7:100629338
TFR2Hereditary hemochromatosisLikely benign
(Aug 29, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr7:100225520
GRCh38:
Chr7:100627897
TFR2Hereditary hemochromatosisLikely benign
(Oct 13, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr7:100218609
GRCh38:
Chr7:100620986
TFR2Hereditary hemochromatosisLikely benign
(Oct 11, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr7:100238765
GRCh38:
Chr7:100641142
TFR2Hereditary hemochromatosisLikely benign
(Sep 14, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr7:100228540
GRCh38:
Chr7:100630917
TFR2Hereditary hemochromatosisLikely benign
(Sep 26, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr7:100238320
GRCh38:
Chr7:100640697
TFR2Hereditary hemochromatosisLikely benign
(Aug 16, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr7:100218702
GRCh38:
Chr7:100621079
TFR2Hereditary hemochromatosisLikely benign
(Sep 19, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr7:100239114
GRCh38:
Chr7:100641491
TFR2Hereditary hemochromatosisLikely benign
(Jul 20, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr7:100224451
GRCh38:
Chr7:100626828
LOC113687175, TFR2E520K, E691KHereditary hemochromatosis, Hemochromatosis type 3Uncertain significance
(Oct 5, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr7:100238751
GRCh38:
Chr7:100641128
TFR2A45VHemochromatosis type 3Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr7:100224468
GRCh38:
Chr7:100626845
LOC113687175, TFR2A514V, A685VInborn genetic diseases, Hereditary hemochromatosisUncertain significance
(Jun 2, 2023)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:100238367
GRCh38:
Chr7:100640744
TFR2D139HHemochromatosis type 3Uncertain significance
(Aug 14, 2020)
no assertion criteria provided
18.
GRCh37:
Chr7:100231184
GRCh38:
Chr7:100633561
TFR2Hereditary hemochromatosisLikely benign
(May 4, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr7:100230888
GRCh38:
Chr7:100633265
TFR2D230E, D59EHemochromatosis type 3Likely benign
(Nov 4, 2020)
no assertion criteria provided
20.
GRCh37:
Chr7:100230842
GRCh38:
Chr7:100633219
TFR2Hereditary hemochromatosisLikely benign
(Dec 21, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr7:100228589
GRCh38:
Chr7:100630966
TFR2R227Q, R398QHemochromatosis type 3Likely benign
(Aug 18, 2020)
no assertion criteria provided
22.
GRCh37:
Chr7:100228539
GRCh38:
Chr7:100630916
TFR2G244S, G415SHereditary hemochromatosis, Hemochromatosis type 3Uncertain significance
(Mar 8, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr7:100228519
GRCh38:
Chr7:100630896
TFR2Hereditary hemochromatosisLikely benign
(Nov 30, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr7:100239104
GRCh38:
Chr7:100641481
TFR2R10THereditary hemochromatosisUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr7:100229445
GRCh38:
Chr7:100631822
TFR2A193T, A364THereditary hemochromatosisUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr7:100225870
GRCh38:
Chr7:100628247
TFR2V484M, V313MHereditary hemochromatosisUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr7:100225595
GRCh38:
Chr7:100627972
TFR2Hemochromatosis type 3Pathogenic
(Jan 29, 2019)
no assertion criteria provided
28.
GRCh37:
Chr7:100230907
GRCh38:
Chr7:100633284
TFR2L224R, L53RHemochromatosis type 3Pathogenic
(Jan 29, 2019)
no assertion criteria provided
29.
GRCh37:
Chr7:100228615
GRCh38:
Chr7:100630992
TFR2Hemochromatosis type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr7:100228576
GRCh38:
Chr7:100630953
TFR2N231K, N402KHereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Apr 28, 2022)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr7:100224926
GRCh38:
Chr7:100627303
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr7:100224908
GRCh38:
Chr7:100627285
TFR2Hemochromatosis type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr7:100224479
GRCh38:
Chr7:100626856
TFR2, LOC113687175Hemochromatosis type 3Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr7:100224444
GRCh38:
Chr7:100626821
LOC113687175, TFR2Y522S, Y693SHemochromatosis type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr7:100238695
GRCh38:
Chr7:100641072
TFR2S64PHemochromatosis type 3Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr7:100238652
GRCh38:
Chr7:100641029
TFR2G78VHemochromatosis type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr7:100238584
GRCh38:
Chr7:100640961
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr7:100228523
GRCh38:
Chr7:100630900
TFR2R249H, R420HHemochromatosis type 3Uncertain significance
(Aug 19, 2021)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr7:100226987
GRCh38:
Chr7:100629364
TFR2V256I, V427IInborn genetic diseases, Hemochromatosis type 3Uncertain significance
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr7:100226937
GRCh38:
Chr7:100629314
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Aug 28, 2022)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr7:100224387
GRCh38:
Chr7:100626764
LOC113687175, TFR2R541Q, R712QInborn genetic diseases, Hereditary hemochromatosis, Hemochromatosis type 3
Uncertain significance
(Sep 9, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr7:100218638
GRCh38:
Chr7:100621015
TFR2L579V, L750VHemochromatosis type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr7:100218550
GRCh38:
Chr7:100620927
TFR2L608P, L779PHemochromatosis type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr7:100238355
GRCh38:
Chr7:100640732
TFR2M143LInborn genetic diseases, Hemochromatosis type 3Uncertain significance
(Dec 19, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr7:100231186
GRCh38:
Chr7:100633563
TFR2Hemochromatosis type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr7:100230975
GRCh38:
Chr7:100633352
TFR2Hemochromatosis type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr7:100225834
GRCh38:
Chr7:100628211
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Jul 24, 2022)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr7:100225747
GRCh38:
Chr7:100628124
TFR2V325M, V496MHereditary hemochromatosis, Hemochromatosis type 3Uncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr7:100225363
GRCh38:
Chr7:100627740
TFR2Hemochromatosis type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr7:100225356
GRCh38:
Chr7:100627733
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Jul 12, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr7:100218479
GRCh38:
Chr7:100620856
TFR2Hemochromatosis type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr7:100218425
GRCh38:
Chr7:100620802
TFR2Hemochromatosis type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr7:100218339
GRCh38:
Chr7:100620716
TFR2Hemochromatosis type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr7:100218338
GRCh38:
Chr7:100620715
TFR2Hemochromatosis type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr7:100230714
GRCh38:
Chr7:100633091
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr7:100230651
GRCh38:
Chr7:100633028
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Oct 3, 2021)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr7:100225288
GRCh38:
Chr7:100627665
TFR2Hemochromatosis type 3, Hereditary hemochromatosisConflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr7:100225220
GRCh38:
Chr7:100627597
TFR2V583I, V412IHemochromatosis type 3Uncertain significance
(Sep 19, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr7:100225019
GRCh38:
Chr7:100627396
TFR2Hemochromatosis type 3, Hereditary hemochromatosisConflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr7:100218200
GRCh38:
Chr7:100620577
TFR2Hemochromatosis type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr7:100218045
GRCh38:
Chr7:100620422
TFR2Hemochromatosis type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr7:100238401
GRCh38:
Chr7:100640778
TFR2D127EHemochromatosis type 3, Hereditary hemochromatosisUncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr7:100218543
GRCh38:
Chr7:100620920
TFR2W610*, W781*Hereditary hemochromatosisLikely pathogenic
(Jun 28, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr7:100238762
GRCh38:
Chr7:100641139
TFR2Hereditary hemochromatosisLikely benign
(Jul 5, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr7:100225007
GRCh38:
Chr7:100627384
TFR2Hemochromatosis type 3, Hereditary hemochromatosisConflicting interpretations of pathogenicity
(Nov 1, 2021)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr7:100218486
GRCh38:
Chr7:100620863
TFR2Hereditary hemochromatosisLikely benign
(Oct 16, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr7:100238362
GRCh38:
Chr7:100640739
TFR2Hereditary hemochromatosisLikely benign
(Nov 12, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr7:100218618
GRCh38:
Chr7:100620995
TFR2Hereditary hemochromatosisLikely benign
(Jul 9, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr7:100238708
GRCh38:
Chr7:100641085
TFR2Hereditary hemochromatosisLikely benign
(Oct 20, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr7:100225423
GRCh38:
Chr7:100627800
TFR2Hereditary hemochromatosisLikely benign
(Jan 9, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr7:100229765
GRCh38:
Chr7:100632142
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Oct 11, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr7:100228603
GRCh38:
Chr7:100630980
TFR2Hereditary hemochromatosisLikely benign
(Sep 27, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr7:100225193
GRCh38:
Chr7:100627570
TFR2Hereditary hemochromatosisLikely benign
(Aug 28, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr7:100224980
GRCh38:
Chr7:100627357
TFR2Hereditary hemochromatosisLikely benign
(Oct 1, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr7:100238660
GRCh38:
Chr7:100641037
TFR2Hereditary hemochromatosisBenign
(Oct 23, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr7:100224431
GRCh38:
Chr7:100626808
LOC113687175, TFR2Hereditary hemochromatosisLikely benign
(Oct 23, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr7:100225706
GRCh38:
Chr7:100628083
TFR2Hereditary hemochromatosisLikely benign
(Nov 5, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr7:100224962
GRCh38:
Chr7:100627339
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr7:100238408
GRCh38:
Chr7:100640785
TFR2E125AHereditary hemochromatosisLikely benign
(Oct 10, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr7:100238500
GRCh38:
Chr7:100640877
TFR2Hereditary hemochromatosisLikely benign
(Oct 24, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr7:100218754
GRCh38:
Chr7:100621131
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Benign/Likely benign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr7:100225205
GRCh38:
Chr7:100627582
TFR2M588L, M417LHereditary hemochromatosisLikely benign
(Oct 30, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr7:100218540
GRCh38:
Chr7:100620917
TFR2Hereditary hemochromatosisLikely benign
(Oct 28, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr7:100225429
GRCh38:
Chr7:100627806
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Sep 26, 2022)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr7:100218608
GRCh38:
Chr7:100620985
TFR2G589R, G760RHereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr7:100238301
GRCh38:
Chr7:100640678
TFR2Hemochromatosis type 3, Hereditary hemochromatosisConflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr7:100230755
GRCh38:
Chr7:100633132
TFR2Hemochromatosis type 3, Hereditary hemochromatosisConflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr7:100238479
GRCh38:
Chr7:100640856
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr7:100224520
GRCh38:
Chr7:100626897
LOC113687175, TFR2G497R, G668RHereditary hemochromatosis, Hemochromatosis type 3Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr7:100225409
GRCh38:
Chr7:100627786
TFR2Y547F, Y376FHereditary hemochromatosisUncertain significance
(Oct 8, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr7:100225006
GRCh38:
Chr7:100627383
TFR2A626T, A455THereditary hemochromatosisUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr7:100224508
GRCh38:
Chr7:100626885
LOC113687175, TFR2Q672*, Q501*Hemochromatosis type 3, Hereditary hemochromatosisConflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr7:100228664
GRCh38:
Chr7:100631041
TFR2G373D, G202DHereditary hemochromatosis, not provided, Hemochromatosis type 1,
Hemochromatosis type 3
Uncertain significance
(May 2, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr7:100224941
GRCh38:
Chr7:100627318
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr7:100229438
GRCh38:
Chr7:100631815
TFR2R366H, R195HHemochromatosis type 3, Hereditary hemochromatosisConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr7:100228653
GRCh38:
Chr7:100631030
TFR2P377S, P206SHereditary hemochromatosisUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr7:100228655
GRCh38:
Chr7:100631032
TFR2A376D, A205DHemochromatosis type 3, Hereditary hemochromatosis, not provided
Conflicting interpretations of pathogenicity
(Nov 4, 2022)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr7:100225193
GRCh38:
Chr7:100627570
TFR2Hereditary hemochromatosis, Hemochromatosis type 3Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr7:100225111
GRCh38:
Chr7:100627488
TFR2D591H, D420HHereditary hemochromatosisUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr7:100225705
GRCh38:
Chr7:100628082
TFR2A510T, A339THereditary hemochromatosis, Hemochromatosis type 3Uncertain significance
(Apr 4, 2022)
criteria provided, multiple submitters, no conflicts
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