| - GRCh37:
- Chr6:26091188
- GRCh38:
- Chr6:26090960
| HFE-AS1, HFE | R43C, R66C | not provided, Hemochromatosis type 1, not specified
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26092982-26092984
- GRCh38:
- Chr6:26092754-26092756
| HFE | Y125del, Y129del, Y139del, Y143del, Y208del, Y217del, Y231del, Y51del, Y228del | Hemochromatosis type 1 | Likely pathogenic
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091697
- GRCh38:
- Chr6:26091469
| HFE | K143E, K166E, K78E | Hemochromatosis type 1, not provided, Hereditary hemochromatosis
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091254
- GRCh38:
- Chr6:26091026
| HFE, HFE-AS1 | S65C, S88C | Hemochromatosis type 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:26094367
- GRCh38:
- Chr6:26094139
| HFE | | Hereditary hemochromatosis, Hemochromatosis type 1, not provided
| Benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091203
- GRCh38:
- Chr6:26090975
| HFE-AS1, HFE | R48*, R71* | Hereditary hemochromatosis, Hemochromatosis type 1 | Pathogenic
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26093461
- GRCh38:
- Chr6:26093233
| HFE | | Alzheimer disease type 1, Variegate porphyria, Microvascular complications of diabetes, susceptibility to, 7,
Familial porphyria cutanea tarda, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2,
Hemochromatosis type 1, Hereditary hemochromatosis, not provided
| Pathogenic/Likely pathogenic
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26095372
- GRCh38:
- Chr6:26095144
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26092966
- GRCh38:
- Chr6:26092738
| HFE | R122W, R210W, R136W, R224W, R44W, R201W, R118W, R132W, R221W | Hereditary hemochromatosis, not provided, Hemochromatosis type 1
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26087708
- GRCh38:
- Chr6:26087480
| HFE, HFE-AS1 | L14V | Hereditary hemochromatosis, not provided, Hemochromatosis type 1
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26095292
- GRCh38:
- Chr6:26095064
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26095198
- GRCh38:
- Chr6:26094970
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26095057
- GRCh38:
- Chr6:26094829
| HFE | | Hemochromatosis type 1, Familial porphyria cutanea tarda, Transferrin serum level quantitative trait locus 2,
Alzheimer disease type 1, Hemochromatosis type 1, Variegate porphyria,
Microvascular complications of diabetes, susceptibility to, 7 | Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26087662
- GRCh38:
- Chr6:26087434
| HFE, HFE-AS1 | | Hereditary hemochromatosis, Hemochromatosis type 1 | Conflicting interpretations of pathogenicity
(Aug 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26087621
- GRCh38:
- Chr6:26087393
| HFE, HFE-AS1 | | Hemochromatosis type 1 | Benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087573
- GRCh38:
- Chr6:26087345
| HFE, HFE-AS1 | | Hemochromatosis type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094913
- GRCh38:
- Chr6:26094685
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094880
- GRCh38:
- Chr6:26094652
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Mar 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094857
- GRCh38:
- Chr6:26094629
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094735
- GRCh38:
- Chr6:26094507
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094653
- GRCh38:
- Chr6:26094425
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094652
- GRCh38:
- Chr6:26094424
| HFE | | Familial porphyria cutanea tarda, Alzheimer disease type 1, Transferrin serum level quantitative trait locus 2,
Microvascular complications of diabetes, susceptibility to, 7, Hemochromatosis type 1, Variegate porphyria,
Hemochromatosis type 1 | Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26094574
- GRCh38:
- Chr6:26094346
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094515
- GRCh38:
- Chr6:26094287
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093474
- GRCh38:
- Chr6:26093246
| HFE | | Hemochromatosis type 1, Hereditary hemochromatosis | Conflicting interpretations of pathogenicity
(Oct 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100224421
- GRCh38:
- Chr7:100626798
| LOC113687175, TFR2 | R530*, R701* | Hemochromatosis type 1, Hereditary hemochromatosis | Pathogenic
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:190436525
- GRCh38:
- Chr2:189571799
| SLC40A1 | N144D | Hemochromatosis type 4 | Pathogenic/Likely pathogenic
(Mar 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:190430145
- GRCh38:
- Chr2:189565419
| SLC40A1 | A232D | Hemochromatosis type 1, Hemochromatosis type 4 | Uncertain significance
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091067-26091070
- GRCh38:
- Chr6:26090839-26090842
| HFE, HFE-AS1 | | Hemochromatosis type 1 | Likely pathogenic
(Jul 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26092972
- GRCh38:
- Chr6:26092744
| HFE | R226W, R138W, R212W, R46W, R124W, R203W, R120W, R134W, R223W | Hemochromatosis type 1, Familial porphyria cutanea tarda, Variegate porphyria,
Microvascular complications of diabetes, susceptibility to, 7, Alzheimer disease type 1, Hemochromatosis type 1,
Transferrin serum level quantitative trait locus 2 | Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:100228664
- GRCh38:
- Chr7:100631041
| TFR2 | G373D, G202D | Hemochromatosis type 1, Hereditary hemochromatosis, not provided,
Hemochromatosis type 3 | Uncertain significance
(May 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26093180
- GRCh38:
- Chr6:26092952
| HFE | V295A, V189A, V193A, V203A, V207A, V272A, V281A, V115A, V292A | Hemochromatosis type 1, Hereditary hemochromatosis, not provided
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26093062
- GRCh38:
- Chr6:26092834
| HFE | V256I, V154I, V164I, V168I, V233I, V242I, V150I, V76I, V253I | Hemochromatosis type 1, Hereditary hemochromatosis, Microvascular complications of diabetes, susceptibility to, 7,
Variegate porphyria, Alzheimer disease type 1, Familial porphyria cutanea tarda,
Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2 | Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26087718
- GRCh38:
- Chr6:26087490
| HFE, HFE-AS1 | T17I | Hereditary hemochromatosis, Hemochromatosis type 1 | Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26087689
- GRCh38:
- Chr6:26087461
| HFE-AS1, HFE | | Hemochromatosis type 1, Hereditary hemochromatosis, not provided
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:100224486
- GRCh38:
- Chr7:100626863
| LOC113687175, TFR2 | G679E, G508E | Hereditary hemochromatosis | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100225111
- GRCh38:
- Chr7:100627488
| TFR2 | D591H, D420H | Hereditary hemochromatosis | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091747-26091748
- GRCh38:
- Chr6:26091519-26091520
| HFE | L183fs, L95fs, L160fs | Hereditary hemochromatosis, Hemochromatosis type 1, Variegate porphyria,
Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda,
Microvascular complications of diabetes, susceptibility to, 7, Alzheimer disease type 1 | Pathogenic/Likely pathogenic
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26093188
- GRCh38:
- Chr6:26092960
| HFE | E298*, E118*, E196*, E275*, E284*, E192*, E210*, E206*, E295* | Hereditary hemochromatosis | Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26095445
- GRCh38:
- Chr6:26095217
| HFE | | not provided, Hemochromatosis type 1 | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26095442
- GRCh38:
- Chr6:26095214
| HFE | | Hemochromatosis type 1, not provided | Conflicting interpretations of pathogenicity
(Dec 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26095411
- GRCh38:
- Chr6:26095183
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26095325
- GRCh38:
- Chr6:26095097
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26095255
- GRCh38:
- Chr6:26095027
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26095200
- GRCh38:
- Chr6:26094972
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26095079
- GRCh38:
- Chr6:26094851
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26095032
- GRCh38:
- Chr6:26094804
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094971
- GRCh38:
- Chr6:26094743
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094871
- GRCh38:
- Chr6:26094643
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094755
- GRCh38:
- Chr6:26094527
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094750
- GRCh38:
- Chr6:26094522
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26094609
- GRCh38:
- Chr6:26094381
| HFE | | Hemochromatosis type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093125
- GRCh38:
- Chr6:26092897
| HFE | E277K, E189K, E171K, E185K, E254K, E175K, E263K, E97K, E274K | Hereditary hemochromatosis, not provided, Hemochromatosis type 1
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26093003
- GRCh38:
- Chr6:26092775
| HFE | T236I, T148I, T134I, T144I, T222I, T56I, T130I, T213I, T233I | Hemochromatosis type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087736
- GRCh38:
- Chr6:26087508
| HFE, HFE-AS1 | R23H | Hereditary hemochromatosis, not provided, Hemochromatosis type 1
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26094433
- GRCh38:
- Chr6:26094205
| HFE | | Hemochromatosis type 1, Hereditary hemochromatosis, not provided
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26091703
- GRCh38:
- Chr6:26091475
| HFE | E168Q, E80Q, E145Q | Hemochromatosis type 1, Hereditary hemochromatosis, not provided,
Variegate porphyria, Microvascular complications of diabetes, susceptibility to, 7, Hemochromatosis type 1,
Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Alzheimer disease type 1
| Uncertain significance
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091192
- GRCh38:
- Chr6:26090964
| HFE-AS1, HFE | R67L, R44L | Hemochromatosis type 1 | Uncertain significance
(Oct 20, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100230913
- GRCh38:
- Chr7:100633290
| TFR2 | E222V, E51V | Hemochromatosis type 1, Hereditary hemochromatosis | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:35775757
- GRCh38:
- Chr19:35284854
| HAMP | | Hemochromatosis type 1, Hereditary hemochromatosis | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:100218640
- GRCh38:
- Chr7:100621017
| TFR2 | R749Q, R578Q | Hereditary hemochromatosis, Hemochromatosis type 1 | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091181
- GRCh38:
- Chr6:26090953
| HFE, HFE-AS1 | | Hemochromatosis type 1, Hereditary hemochromatosis | Benign/Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:35775908
- GRCh38:
- Chr19:35285005
| HAMP | C73Y | Hereditary hemochromatosis, Hemochromatosis type 1 | Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26087686
- GRCh38:
- Chr6:26087458
| HFE, HFE-AS1 | R6S | not provided, Hereditary hemochromatosis, Variegate porphyria,
Alzheimer disease type 1, Hemochromatosis type 1, Transferrin serum level quantitative trait locus 2,
Familial porphyria cutanea tarda, Microvascular complications of diabetes, susceptibility to, 7, Hemochromatosis type 1
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091707
- GRCh38:
- Chr6:26091479
| HFE | W169*, W81*, W146* | Hemochromatosis type 1 | not provided | no assertion provided |
| - GRCh37:
- Chr7:100230644
- GRCh38:
- Chr7:100633021
| TFR2 | V277L, V106L | Hereditary hemochromatosis, Hemochromatosis type 1 | Uncertain significance
(Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:35775906
- GRCh38:
- Chr19:35285003
| HAMP | C72* | Hemochromatosis type 1, Hereditary hemochromatosis | Conflicting interpretations of pathogenicity
(Jul 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26091336
- GRCh38:
- Chr6:26091108
| HFE | | not specified, not provided, Hemochromatosis type 1,
Hereditary hemochromatosis | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26091703
- GRCh38:
- Chr6:26091475
| HFE | E168*, E145*, E80* | Hereditary hemochromatosis | Pathogenic
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:35775902
- GRCh38:
- Chr19:35284999
| HAMP | G71D | Hemochromatosis type 1, Hereditary hemochromatosis, not specified,
Hemochromatosis type 2B | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:21113411
- GRCh38:
- Chr18:23533447
| NPC1 | F1221fs | Niemann-Pick disease, type C, Niemann-Pick disease, type C1 | Pathogenic
(Feb 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145416618
- GRCh38:
- Chr1:146018395
| HJV | C321*, C208*, C95* | Hemochromatosis type 2A, Hemochromatosis type 1 | Pathogenic
(Oct 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr1:145416614
- GRCh38:
- Chr1:146018399
| HJV | G320V, G207V, G94V | not provided, Hemochromatosis type 2A | Pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:26093144
- GRCh38:
- Chr6:26092916
| HFE | Q283P, Q191P, Q269P, Q103P, Q177P, Q195P, Q260P, Q181P, Q280P | Hereditary hemochromatosis | Pathogenic
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093443
- GRCh38:
- Chr6:26093215
| HFE | R330M, R150M, R242M, R316M, R224M, R228M, R238M, R307M, R58M, R327M | Hemochromatosis type 1 | Pathogenic
(Aug 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr6:26091582
- GRCh38:
- Chr6:26091354
| HFE | Q127H, Q104H, Q39H | Hemochromatosis type 1 | Pathogenic
(Aug 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr6:26091167
- GRCh38:
- Chr6:26090939
| HFE, HFE-AS1 | V59M, V36M | Hemochromatosis type 1 | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091149
- GRCh38:
- Chr6:26090921
| HFE, HFE-AS1 | V53M, V30M | Hemochromatosis type 1 | Uncertain significance
(Jul 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091269
- GRCh38:
- Chr6:26091041
| HFE | G93R, G70R | Hemochromatosis type 1 | Pathogenic
(Jun 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr6:26091306
- GRCh38:
- Chr6:26091078
| HFE | I105T, I82T | Hereditary hemochromatosis | Uncertain significance
(Aug 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:26091185
- GRCh38:
- Chr6:26090957
| HFE, HFE-AS1 | S65C, S42C | Hemochromatosis type 1, Hereditary hemochromatosis, Microvascular complications of diabetes, susceptibility to, 7,
Variegate porphyria, Transferrin serum level quantitative trait locus 2, Alzheimer disease,
Familial porphyria cutanea tarda, Hemochromatosis type 1, not specified,
not provided, Microvascular complications of diabetes, susceptibility to, 7Variegate porphyria,
Transferrin serum level quantitative trait locus 2, Familial porphyria cutanea tarda, Hemochromatosis type 1,
Alzheimer disease type 1, ...see more | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26091179
- GRCh38:
- Chr6:26090951
| HFE, HFE-AS1 | H63D, H40D | Hemochromatosis type 1, Hereditary hemochromatosis, Microvascular complications of diabetes, susceptibility to, 7,
Variegate porphyria, Transferrin serum level quantitative trait locus 2, Alzheimer disease,
Familial porphyria cutanea tarda, Hemochromatosis type 1, not specified,
not provided, CardiomyopathyVariegate porphyria,
See cases, Abnormality of iron homeostasis, ...see more | Conflicting interpretations of pathogenicity; other
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:26093141
- GRCh38:
- Chr6:26092913
| HFE | C282Y, C176Y, C180Y, C190Y, C194Y, C259Y, C268Y, C102Y, C279Y | Hemochromatosis type 2, HFE-related disorder, Hemochromatosis type 1,
Pain, Abnormal peripheral nervous system morphology, Abdominal pain,
Abnormality of the nervous system, Abnormality of the male genitalia, Atypical behavior,
Peripheral neuropathy, Inborn genetic diseasesHereditary hemochromatosis,
Hereditary cancer-predisposing syndrome, not provided, Cardiomyopathy,
Alzheimer disease, Cutaneous photosensitivity, Porphyrinuria,
Microvascular complications of diabetes, susceptibility to, 7, Variegate porphyria, Transferrin serum level quantitative trait locus 2,
Familial porphyria cutanea tarda, Hemochromatosis type 1, Alzheimer disease type 1,
...see more | Conflicting interpretations of pathogenicity; other; risk factor
(Mar 1, 2023) | criteria provided, conflicting interpretations |