| - GRCh37:
- Chr7:100224426-100224429
- GRCh38:
- Chr7:100626803-100626806
| LOC113687175, TFR2 | R527fs, R698fs | Hemochromatosis type 3 | Pathogenic (Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224528
- GRCh38:
- Chr7:100626905
| LOC113687175, TFR2 | | Hemochromatosis type 3 | Likely pathogenic (Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224484
- GRCh38:
- Chr7:100626861
| LOC113687175, TFR2 | D509Y, D680Y | Hemochromatosis type 3 | Likely pathogenic (Apr 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100225115
- GRCh38:
- Chr7:100627492
| TFR2 | | Hemochromatosis type 3 | Pathogenic (Jun 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230706
- GRCh38:
- Chr7:100633083
| TFR2 | L256R, L85R | Hereditary hemochromatosis | Benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100226961
- GRCh38:
- Chr7:100629338
| TFR2 | | Hereditary hemochromatosis | Likely benign (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225520
- GRCh38:
- Chr7:100627897
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218609
- GRCh38:
- Chr7:100620986
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238765
- GRCh38:
- Chr7:100641142
| TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100228540
- GRCh38:
- Chr7:100630917
| TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238320
- GRCh38:
- Chr7:100640697
| TFR2 | | Hereditary hemochromatosis | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218702
- GRCh38:
- Chr7:100621079
| TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100239114
- GRCh38:
- Chr7:100641491
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224451
- GRCh38:
- Chr7:100626828
| LOC113687175, TFR2 | E520K, E691K | Hereditary hemochromatosis, Hemochromatosis type 3 | Uncertain significance (Oct 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100238751
- GRCh38:
- Chr7:100641128
| TFR2 | A45V | Hemochromatosis type 3 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224468
- GRCh38:
- Chr7:100626845
| LOC113687175, TFR2 | A514V, A685V | Inborn genetic diseases, Hereditary hemochromatosis | Uncertain significance (Jun 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100238367
- GRCh38:
- Chr7:100640744
| TFR2 | D139H | Hemochromatosis type 3 | Uncertain significance (Aug 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:100231184
- GRCh38:
- Chr7:100633561
| TFR2 | | Hereditary hemochromatosis | Likely benign (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230888
- GRCh38:
- Chr7:100633265
| TFR2 | D230E, D59E | Hemochromatosis type 3 | Likely benign (Nov 4, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:100230842
- GRCh38:
- Chr7:100633219
| TFR2 | | Hereditary hemochromatosis | Likely benign (Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100228589
- GRCh38:
- Chr7:100630966
| TFR2 | R227Q, R398Q | Hemochromatosis type 3 | Likely benign (Aug 18, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:100228539
- GRCh38:
- Chr7:100630916
| TFR2 | G244S, G415S | Hereditary hemochromatosis, Hemochromatosis type 3 | Uncertain significance (Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100228519
- GRCh38:
- Chr7:100630896
| TFR2 | | Hereditary hemochromatosis | Likely benign (Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100239104
- GRCh38:
- Chr7:100641481
| TFR2 | R10T | Hereditary hemochromatosis | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229445
- GRCh38:
- Chr7:100631822
| TFR2 | A193T, A364T | Hereditary hemochromatosis | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225870
- GRCh38:
- Chr7:100628247
| TFR2 | V484M, V313M | Hereditary hemochromatosis | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225595
- GRCh38:
- Chr7:100627972
| TFR2 | | Hemochromatosis type 3 | Pathogenic (Jan 29, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr7:100230907
- GRCh38:
- Chr7:100633284
| TFR2 | L224R, L53R | Hemochromatosis type 3 | Pathogenic (Jan 29, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr7:100228615
- GRCh38:
- Chr7:100630992
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100228576
- GRCh38:
- Chr7:100630953
| TFR2 | N231K, N402K | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Apr 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100224926
- GRCh38:
- Chr7:100627303
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100224908
- GRCh38:
- Chr7:100627285
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224479
- GRCh38:
- Chr7:100626856
| TFR2, LOC113687175 | | Hemochromatosis type 3 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224444
- GRCh38:
- Chr7:100626821
| LOC113687175, TFR2 | Y522S, Y693S | Hemochromatosis type 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238695
- GRCh38:
- Chr7:100641072
| TFR2 | S64P | Hemochromatosis type 3 | Uncertain significance (Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238652
- GRCh38:
- Chr7:100641029
| TFR2 | G78V | Hemochromatosis type 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238584
- GRCh38:
- Chr7:100640961
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100228523
- GRCh38:
- Chr7:100630900
| TFR2 | R249H, R420H | Hemochromatosis type 3 | Uncertain significance (Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100226987
- GRCh38:
- Chr7:100629364
| TFR2 | V256I, V427I | Inborn genetic diseases, Hemochromatosis type 3 | Uncertain significance (Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100226937
- GRCh38:
- Chr7:100629314
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Aug 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100224387
- GRCh38:
- Chr7:100626764
| LOC113687175, TFR2 | R541Q, R712Q | Inborn genetic diseases, Hereditary hemochromatosis, Hemochromatosis type 3
| Uncertain significance (Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100218638
- GRCh38:
- Chr7:100621015
| TFR2 | L579V, L750V | Hemochromatosis type 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218550
- GRCh38:
- Chr7:100620927
| TFR2 | L608P, L779P | Hemochromatosis type 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238355
- GRCh38:
- Chr7:100640732
| TFR2 | M143L | Inborn genetic diseases, Hemochromatosis type 3 | Uncertain significance (Dec 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100231186
- GRCh38:
- Chr7:100633563
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230975
- GRCh38:
- Chr7:100633352
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225834
- GRCh38:
- Chr7:100628211
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Jul 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100225747
- GRCh38:
- Chr7:100628124
| TFR2 | V325M, V496M | Hereditary hemochromatosis, Hemochromatosis type 3 | Uncertain significance (Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100225363
- GRCh38:
- Chr7:100627740
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225356
- GRCh38:
- Chr7:100627733
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Jul 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100218479
- GRCh38:
- Chr7:100620856
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218425
- GRCh38:
- Chr7:100620802
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218339
- GRCh38:
- Chr7:100620716
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218338
- GRCh38:
- Chr7:100620715
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230714
- GRCh38:
- Chr7:100633091
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100230651
- GRCh38:
- Chr7:100633028
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Oct 3, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100225288
- GRCh38:
- Chr7:100627665
| TFR2 | | Hemochromatosis type 3, Hereditary hemochromatosis | Conflicting interpretations of pathogenicity (Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100225220
- GRCh38:
- Chr7:100627597
| TFR2 | V583I, V412I | Hemochromatosis type 3 | Uncertain significance (Sep 19, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225019
- GRCh38:
- Chr7:100627396
| TFR2 | | Hemochromatosis type 3, Hereditary hemochromatosis | Conflicting interpretations of pathogenicity (Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100218200
- GRCh38:
- Chr7:100620577
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218045
- GRCh38:
- Chr7:100620422
| TFR2 | | Hemochromatosis type 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238401
- GRCh38:
- Chr7:100640778
| TFR2 | D127E | Hemochromatosis type 3, Hereditary hemochromatosis | Uncertain significance (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100218543
- GRCh38:
- Chr7:100620920
| TFR2 | W610*, W781* | Hereditary hemochromatosis | Likely pathogenic (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238762
- GRCh38:
- Chr7:100641139
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225007
- GRCh38:
- Chr7:100627384
| TFR2 | | Hemochromatosis type 3, Hereditary hemochromatosis | Conflicting interpretations of pathogenicity (Nov 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100218486
- GRCh38:
- Chr7:100620863
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238362
- GRCh38:
- Chr7:100640739
| TFR2 | | Hereditary hemochromatosis | Likely benign (Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218618
- GRCh38:
- Chr7:100620995
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238708
- GRCh38:
- Chr7:100641085
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225423
- GRCh38:
- Chr7:100627800
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jan 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229765
- GRCh38:
- Chr7:100632142
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Oct 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100228603
- GRCh38:
- Chr7:100630980
| TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225193
- GRCh38:
- Chr7:100627570
| TFR2 | | Hereditary hemochromatosis | Likely benign (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224980
- GRCh38:
- Chr7:100627357
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238660
- GRCh38:
- Chr7:100641037
| TFR2 | | Hereditary hemochromatosis | Benign (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224431
- GRCh38:
- Chr7:100626808
| LOC113687175, TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225706
- GRCh38:
- Chr7:100628083
| TFR2 | | Hereditary hemochromatosis | Likely benign (Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224962
- GRCh38:
- Chr7:100627339
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100238408
- GRCh38:
- Chr7:100640785
| TFR2 | E125A | Hereditary hemochromatosis | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238500
- GRCh38:
- Chr7:100640877
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218754
- GRCh38:
- Chr7:100621131
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Benign/Likely benign (Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100225205
- GRCh38:
- Chr7:100627582
| TFR2 | M588L, M417L | Hereditary hemochromatosis | Likely benign (Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218540
- GRCh38:
- Chr7:100620917
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225429
- GRCh38:
- Chr7:100627806
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100218608
- GRCh38:
- Chr7:100620985
| TFR2 | G589R, G760R | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100238301
- GRCh38:
- Chr7:100640678
| TFR2 | | Hemochromatosis type 3, Hereditary hemochromatosis | Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100230755
- GRCh38:
- Chr7:100633132
| TFR2 | | Hemochromatosis type 3, Hereditary hemochromatosis | Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100238479
- GRCh38:
- Chr7:100640856
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100224520
- GRCh38:
- Chr7:100626897
| LOC113687175, TFR2 | G497R, G668R | Hereditary hemochromatosis, Hemochromatosis type 3 | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100225409
- GRCh38:
- Chr7:100627786
| TFR2 | Y547F, Y376F | Hereditary hemochromatosis | Uncertain significance (Oct 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225006
- GRCh38:
- Chr7:100627383
| TFR2 | A626T, A455T | Hereditary hemochromatosis | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224508
- GRCh38:
- Chr7:100626885
| LOC113687175, TFR2 | Q672*, Q501* | Hemochromatosis type 3, Hereditary hemochromatosis | Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100228664
- GRCh38:
- Chr7:100631041
| TFR2 | G373D, G202D | Hereditary hemochromatosis, not provided, Hemochromatosis type 1, Hemochromatosis type 3 | Uncertain significance (May 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100224941
- GRCh38:
- Chr7:100627318
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Benign (Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100229438
- GRCh38:
- Chr7:100631815
| TFR2 | R366H, R195H | Hemochromatosis type 3, Hereditary hemochromatosis | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100228653
- GRCh38:
- Chr7:100631030
| TFR2 | P377S, P206S | Hereditary hemochromatosis | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100228655
- GRCh38:
- Chr7:100631032
| TFR2 | A376D, A205D | Hemochromatosis type 3, Hereditary hemochromatosis, not provided
| Conflicting interpretations of pathogenicity (Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100225193
- GRCh38:
- Chr7:100627570
| TFR2 | | Hereditary hemochromatosis, Hemochromatosis type 3 | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100225111
- GRCh38:
- Chr7:100627488
| TFR2 | D591H, D420H | Hereditary hemochromatosis | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225705
- GRCh38:
- Chr7:100628082
| TFR2 | A510T, A339T | Hereditary hemochromatosis, Hemochromatosis type 3 | Uncertain significance (Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |