| - GRCh37:
- Chr7:100226866-100227005
| TFR2 | | Hereditary hemochromatosis | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218504
- GRCh38:
- Chr7:100620881
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jul 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229460-100229464
- GRCh38:
- Chr7:100631837-100631841
| TFR2 | Q186fs, Q357fs | Hereditary hemochromatosis | Pathogenic (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225720
- GRCh38:
- Chr7:100628097
| TFR2 | V334M, V505M | Hereditary hemochromatosis | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225833
- GRCh38:
- Chr7:100628210
| TFR2 | | Hereditary hemochromatosis | Likely benign (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218644
- GRCh38:
- Chr7:100621021
| TFR2 | | Hereditary hemochromatosis | Likely benign (Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229816
- GRCh38:
- Chr7:100632193
| TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238513
- GRCh38:
- Chr7:100640890
| TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093128
- GRCh38:
- Chr6:26092900
| HFE | Q176*, Q255*, Q264*, Q172*, Q186*, Q275*, Q278*, Q190*, Q98* | Hereditary hemochromatosis | Pathogenic (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230753
- GRCh38:
- Chr7:100633130
| TFR2 | | Hereditary hemochromatosis | Likely benign (Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229449
- GRCh38:
- Chr7:100631826
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100226961
- GRCh38:
- Chr7:100629338
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100228590
- GRCh38:
- Chr7:100630967
| TFR2 | R398G, R227G | Hereditary hemochromatosis | Uncertain significance (May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225760
- GRCh38:
- Chr7:100628137
| TFR2 | | Hereditary hemochromatosis | Likely pathogenic (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225730
- GRCh38:
- Chr7:100628107
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229434
- GRCh38:
- Chr7:100631811
| TFR2 | | Hereditary hemochromatosis | Likely benign (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218559
- GRCh38:
- Chr7:100620936
| TFR2 | L605P, L776P | Hereditary hemochromatosis | Uncertain significance (Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225432
- GRCh38:
- Chr7:100627809
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225449
- GRCh38:
- Chr7:100627826
| TFR2 | | Hereditary hemochromatosis | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093055
- GRCh38:
- Chr6:26092827
| HFE | | Hereditary hemochromatosis | Likely benign (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224389
- GRCh38:
- Chr7:100626766
| LOC113687175, TFR2 | M711I, M540I | Hereditary hemochromatosis | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218756
- GRCh38:
- Chr7:100621133
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093076
- GRCh38:
- Chr6:26092848
| HFE | | Hereditary hemochromatosis | Likely benign (Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225520
- GRCh38:
- Chr7:100627897
| TFR2 | | Hereditary hemochromatosis | Likely benign (Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225118
- GRCh38:
- Chr7:100627495
| TFR2 | | Hereditary hemochromatosis | Likely benign (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100231083
- GRCh38:
- Chr7:100633460
| TFR2 | | Hereditary hemochromatosis | Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087692
- GRCh38:
- Chr6:26087464
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238324
- GRCh38:
- Chr7:100640701
| TFR2 | L153P | Hereditary hemochromatosis | Uncertain significance (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224534
- GRCh38:
- Chr7:100626911
| LOC113687175, TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100228531
- GRCh38:
- Chr7:100630908
| TFR2 | | Hereditary hemochromatosis | Likely benign (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225359
- GRCh38:
- Chr7:100627736
| TFR2 | | Hereditary hemochromatosis | Likely benign (Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218669
- GRCh38:
- Chr7:100621046
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224988
- GRCh38:
- Chr7:100627365
| TFR2 | R461W, R632W | Hereditary hemochromatosis | Uncertain significance (Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230699
- GRCh38:
- Chr7:100633076
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093339
- GRCh38:
- Chr6:26093111
| HFE | | Hereditary hemochromatosis | Likely benign (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225215
- GRCh38:
- Chr7:100627592
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218708
- GRCh38:
- Chr7:100621085
| TFR2 | | Hereditary hemochromatosis | Likely benign (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091344
- GRCh38:
- Chr6:26091116
| HFE | | Hereditary hemochromatosis | Likely benign (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224992
- GRCh38:
- Chr7:100627369
| TFR2 | | Hereditary hemochromatosis | Likely benign (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238868
- GRCh38:
- Chr7:100641245
| TFR2 | | Hereditary hemochromatosis | Likely benign (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224967
- GRCh38:
- Chr7:100627344
| TFR2 | | Hereditary hemochromatosis | Likely benign (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224366
- GRCh38:
- Chr7:100626743
| LOC113687175, TFR2 | | Hereditary hemochromatosis | Likely benign (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238449
- GRCh38:
- Chr7:100640826
| TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091726
- GRCh38:
- Chr6:26091498
| HFE | | Hereditary hemochromatosis | Likely benign (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238434
- GRCh38:
- Chr7:100640811
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091749
- GRCh38:
- Chr6:26091521
| HFE | L183P, L95P, L160P | Hereditary hemochromatosis | Pathogenic (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100226979-100226980
- GRCh38:
- Chr7:100629356-100629357
| TFR2 | G259fs, G430fs | Hereditary hemochromatosis | Pathogenic (Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100239100
- GRCh38:
- Chr7:100641477
| TFR2 | | Hereditary hemochromatosis | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225411
- GRCh38:
- Chr7:100627788
| TFR2 | | Hereditary hemochromatosis | Likely benign (May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238786
- GRCh38:
- Chr7:100641163
| TFR2 | H33Q | Hereditary hemochromatosis | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:35773541
- GRCh38:
- Chr19:35282638
| HAMP | | Hereditary hemochromatosis | Likely benign (Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100231129-100231130
- GRCh38:
- Chr7:100633506-100633507
| TFR2 | L175fs, L4fs | Hereditary hemochromatosis | Pathogenic (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229461
- GRCh38:
- Chr7:100631838
| TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218612
- GRCh38:
- Chr7:100620989
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100231101
- GRCh38:
- Chr7:100633478
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091270
- GRCh38:
- Chr6:26091042
| HFE | G93V, G70V | Hereditary hemochromatosis | Uncertain significance (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100228573
- GRCh38:
- Chr7:100630950
| TFR2 | | Hereditary hemochromatosis | Likely benign (May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100228665
- GRCh38:
- Chr7:100631042
| TFR2 | G373R, G202R | Hereditary hemochromatosis | Uncertain significance (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225575
- GRCh38:
- Chr7:100627952
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091783
- GRCh38:
- Chr6:26091555
| HFE | | Hereditary hemochromatosis | Likely benign (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238693
- GRCh38:
- Chr7:100641070
| TFR2 | R65fs | Hereditary hemochromatosis | Pathogenic (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229698
- GRCh38:
- Chr7:100632075
| TFR2 | | Hereditary hemochromatosis | Likely benign (Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093056
- GRCh38:
- Chr6:26092828
| HFE | K251*, K254*, K74*, K152*, K148*, K162*, K166*, K231*, K240* | Hereditary hemochromatosis | Pathogenic (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230897
- GRCh38:
- Chr7:100633274
| TFR2 | | Hereditary hemochromatosis | Likely benign (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229545
- GRCh38:
- Chr7:100631922
| TFR2 | Y160fs, Y331fs | Hereditary hemochromatosis | Pathogenic (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225194
- GRCh38:
- Chr7:100627571
| TFR2 | | Hereditary hemochromatosis | Uncertain significance (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093456
- GRCh38:
- Chr6:26093228
| HFE | | Hereditary hemochromatosis | Likely benign (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230687
- GRCh38:
- Chr7:100633064
| TFR2 | | Hereditary hemochromatosis | Likely benign (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218604-100218605
- GRCh38:
- Chr7:100620981-100620982
| TFR2 | A590fs, A761fs | Hereditary hemochromatosis | Pathogenic (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091193
- GRCh38:
- Chr6:26090965
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225777
- GRCh38:
- Chr7:100628154
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225934
- GRCh38:
- Chr7:100628311
| TFR2 | | Hereditary hemochromatosis | Likely benign (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229422
- GRCh38:
- Chr7:100631799
| TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100226916
- GRCh38:
- Chr7:100629293
| TFR2 | | Hereditary hemochromatosis | Likely benign (Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238822
- GRCh38:
- Chr7:100641199
| TFR2 | | Hereditary hemochromatosis | Likely benign (Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100226916
- GRCh38:
- Chr7:100629293
| TFR2 | | Hereditary hemochromatosis | Likely benign (Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230627
- GRCh38:
- Chr7:100633004
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230861
- GRCh38:
- Chr7:100633238
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230751
- GRCh38:
- Chr7:100633128
| TFR2 | | Hereditary hemochromatosis | Likely benign (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100228603
- GRCh38:
- Chr7:100630980
| TFR2 | P224fs, P395fs | Hereditary hemochromatosis | Pathogenic (Jan 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218652
- GRCh38:
- Chr7:100621029
| TFR2 | L574R, L745R | Hereditary hemochromatosis | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225448
- GRCh38:
- Chr7:100627825
| TFR2 | | Hereditary hemochromatosis | Likely benign (Jan 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224395
- GRCh38:
- Chr7:100626772
| LOC113687175, TFR2 | | Hereditary hemochromatosis | Likely benign (Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087759
- GRCh38:
- Chr6:26087531
| HFE, HFE-AS1 | | Hereditary hemochromatosis | Likely benign (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230656
- GRCh38:
- Chr7:100633033
| TFR2 | V273M, V102M | Hereditary hemochromatosis | Likely benign (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087691
- GRCh38:
- Chr6:26087463
| HFE, HFE-AS1 | A8V | Hereditary hemochromatosis | Uncertain significance (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093023
- GRCh38:
- Chr6:26092795
| HFE | K151E, K220E, K240E, K63E, K141E, K155E, K229E, K137E, K243E | Hereditary hemochromatosis | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100231081
- GRCh38:
- Chr7:100633458
| TFR2 | V191A, V20A | Hereditary hemochromatosis | Uncertain significance (Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225020
- GRCh38:
- Chr7:100627397
| TFR2 | A450D, A621D | Hereditary hemochromatosis | Uncertain significance (Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224514
- GRCh38:
- Chr7:100626891
| LOC113687175, TFR2 | T499P, T670P | Hereditary hemochromatosis | Uncertain significance (Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224917
- GRCh38:
- Chr7:100627294
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229700
- GRCh38:
- Chr7:100632077
| TFR2 | | Hereditary hemochromatosis | Uncertain significance (Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225613
- GRCh38:
- Chr7:100627990
| TFR2 | | Hereditary hemochromatosis | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100229439
- GRCh38:
- Chr7:100631816
| TFR2 | R366C, R195C | Hereditary hemochromatosis | Uncertain significance (Mar 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100238796
- GRCh38:
- Chr7:100641173
| TFR2 | R30Q | Hereditary hemochromatosis, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Dec 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100226907
- GRCh38:
- Chr7:100629284
| TFR2 | | Hereditary hemochromatosis | Likely benign (Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225828
- GRCh38:
- Chr7:100628205
| TFR2 | | Hereditary hemochromatosis | Uncertain significance (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230702
- GRCh38:
- Chr7:100633079
| TFR2 | | Hereditary hemochromatosis | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091818
- GRCh38:
- Chr6:26091590
| HFE | | Hereditary hemochromatosis | Pathogenic (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100224968
- GRCh38:
- Chr7:100627345
| TFR2 | | Hereditary hemochromatosis | Likely benign (Aug 30, 2022) | criteria provided, single submitter |