| - GRCh37:
- Chr1:145415577
- GRCh38:
- Chr1:146019433
| HJV | A134fs, A21fs | Hemochromatosis type 2A, not provided | Pathogenic/Likely pathogenic
(Feb 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145415795
- GRCh38:
- Chr1:146019218
| HJV | S205T, S92T | Hemochromatosis type 2A | Uncertain significance
(Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415474
- GRCh38:
- Chr1:146019539
| HJV | R98H | Hemochromatosis type 2A | Uncertain significance
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415840
- GRCh38:
- Chr1:146019173
| HJV | | Hemochromatosis type 2A | Likely pathogenic
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415753
- GRCh38:
- Chr1:146019260
| HJV | W191S, W78S | Hemochromatosis type 2A | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415626
- GRCh38:
- Chr1:146019387
| HJV | D149fs, D36fs | Hemochromatosis type 2A, not provided | Pathogenic/Likely pathogenic
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145415368
- GRCh38:
- Chr1:146019645
| HJV | R63* | Hemochromatosis type 2A | Pathogenic/Likely pathogenic
(Oct 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145416893
- GRCh38:
- Chr1:146018120
| HJV | P187L, P300L, P413L | Hemochromatosis type 2A | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415826
- GRCh38:
- Chr1:146019187
| HJV | | not provided | Benign
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145414839-145414840
- GRCh38:
- Chr1:146020172-146020173
| HJV | S21fs | Hemochromatosis type 2A, not provided | Pathogenic/Likely pathogenic
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145415456
- GRCh38:
- Chr1:146019557
| HJV | R92P | not provided | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415574-145415594
- GRCh38:
- Chr1:146019415-146019435
| HJV | | not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416752
- GRCh38:
- Chr1:146018261
| HJV | L140*, L253*, L366* | not provided | Pathogenic
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416540
- GRCh38:
- Chr1:146018473
| HJV | | not provided, Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Sep 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145416496
- GRCh38:
- Chr1:146018517
| HJV | I168F, I55F, I281F | Hemochromatosis type 2A | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416474
- GRCh38:
- Chr1:146018539
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416435
- GRCh38:
- Chr1:146018578
| HJV | | not provided, Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Apr 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145415778
- GRCh38:
- Chr1:146019235
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415691
- GRCh38:
- Chr1:146019322
| HJV | | not provided, Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145417510
- GRCh38:
- Chr1:146017503
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145417308
- GRCh38:
- Chr1:146017705
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145417134
- GRCh38:
- Chr1:146017879
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145417133
- GRCh38:
- Chr1:146017880
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145417126
- GRCh38:
- Chr1:146017887
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415351
- GRCh38:
- Chr1:146019662
| HJV | G57D | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416739
- GRCh38:
- Chr1:146018274
| HJV | V249I, V136I, V362I | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416649
- GRCh38:
- Chr1:146018364
| HJV | R106C, R219C, R332C | Hemochromatosis type 2A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416632
- GRCh38:
- Chr1:146018381
| HJV | R213Q, R326Q, R100Q | Hemochromatosis type 2A | Uncertain significance
(Mar 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145413314
- GRCh38:
- Chr1:146021699
| HJV | | Hemochromatosis type 2A | Benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145413273
- GRCh38:
- Chr1:146021740
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145413235
- GRCh38:
- Chr1:146021778
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145413194
- GRCh38:
- Chr1:146021819
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415568
- GRCh38:
- Chr1:146019445
| HJV | | not provided | Likely benign
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416723
- GRCh38:
- Chr1:146018290
| HJV | | not provided | Likely benign
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416605
- GRCh38:
- Chr1:146018408
| HJV | C204Y, C317Y, C91Y | Hemochromatosis type 2A, Hemochromatosis type 2, not provided
| Conflicting interpretations of pathogenicity
(Aug 27, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145416659
- GRCh38:
- Chr1:146018354
| HJV | R222Q, R335Q, R109Q | Hemochromatosis type 2A, not provided | Uncertain significance
(Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145416559
- GRCh38:
- Chr1:146018454
| HJV | E189K, E302K, E76K | not provided, Hemochromatosis type 2A | Uncertain significance
(Nov 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145415398
- GRCh38:
- Chr1:146019612
| HJV | V74fs | not provided, Hemochromatosis type 2A | Pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145416352
- GRCh38:
- Chr1:146018661
| HJV | Q120fs, Q233fs, Q7fs | Hemochromatosis type 2A | Pathogenic
(Nov 9, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:145414782-145474819
| POLR3GL, TXNIP, ANKRD34A, HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145414782-145474819
| ANKRD34A, HJV, POLR3GL, TXNIP | | Hemochromatosis type 2A | Pathogenic
(Feb 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416661
- GRCh38:
- Chr1:146018352
| HJV | G336*, G223*, G110* | not provided | Pathogenic
(Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415678
- GRCh38:
- Chr1:146019335
| HJV | H166R, H53R | Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Sep 15, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:145414776-145416941
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Sep 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416447
- GRCh38:
- Chr1:146018566
| HJV | | Hemochromatosis type 2A, not provided | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145415613
- GRCh38:
- Chr1:146019400
| HJV | | not provided, Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145415486
- GRCh38:
- Chr1:146019527
| HJV | A102V | Hemochromatosis type 2A, not provided | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145414693-145417545
| HJV | | Hemochromatosis type 2A | Pathogenic
(Jan 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145417224
- GRCh38:
- Chr1:146017789
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416912
- GRCh38:
- Chr1:146018101
| HJV | F419L, F306L, F193L | not provided, Hemochromatosis type 2A | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145416909
- GRCh38:
- Chr1:146018104
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416768
- GRCh38:
- Chr1:146018245
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416641
- GRCh38:
- Chr1:146018372
| HJV | R329P, R103P, R216P | Hemochromatosis type 2A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416584
- GRCh38:
- Chr1:146018429
| HJV | A310G, A84G, A197G | not provided, Hemochromatosis type 2A | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145416483
- GRCh38:
- Chr1:146018530
| HJV | | not provided, Hemochromatosis type 2A | Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145416411
- GRCh38:
- Chr1:146018602
| HJV | | not provided, Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145415740
- GRCh38:
- Chr1:146019273
| HJV | V187F, V74F | Hemochromatosis type 2A | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415703
- GRCh38:
- Chr1:146019310
| HJV | | not provided, Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145415616
- GRCh38:
- Chr1:146019397
| HJV | | not provided, Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145415590
- GRCh38:
- Chr1:146019423
| HJV | G137S, G24S | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415526
- GRCh38:
- Chr1:146019487
| HJV | | not provided, Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145415467
- GRCh38:
- Chr1:146019546
| HJV | T96S | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415382
- GRCh38:
- Chr1:146019631
| HJV | | not provided, Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:145415369
- GRCh38:
- Chr1:146019644
| HJV | R63Q | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145413381
- GRCh38:
- Chr1:146021632
| HJV | | Hemochromatosis type 2A | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145413362
- GRCh38:
- Chr1:146021651
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145413313
- GRCh38:
- Chr1:146021700
| HJV | | Hemochromatosis type 2A | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145414790
- GRCh38:
- Chr1:146020223
| HJV | E3D | not provided, Hemochromatosis type 2A | Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145415273
- GRCh38:
- Chr1:146019740
| HJV | | not specified, not provided, Hemochromatosis type 2A
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:145415368-145415369
- GRCh38:
- Chr1:146019625-146019626
| HJV | | not provided | Likely benign
(Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415341
- GRCh38:
- Chr1:146019672
| HJV | R54* | not provided | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416634-145416637
- GRCh38:
- Chr1:146018373-146018376
| HJV | S328fs, S102fs, S215fs | Hemochromatosis type 2A | Pathogenic
(May 1, 2005) | no assertion criteria provided |
| - 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:
- Chr1:145415483
- GRCh38:
- Chr1:146019530
| HJV | L101P | not provided | Pathogenic
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145415419
- GRCh38:
- Chr1:146019594
| HJV | C80R | not provided | Pathogenic
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416497
- GRCh38:
- Chr1:146018516
| HJV | I281T, I168T, I55T | not provided | Pathogenic
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416320
- GRCh38:
- Chr1:146018693
| HJV | I222N, I109N | not provided | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:145416631
- GRCh38:
- Chr1:146018382
| HJV | R326*, R213*, R100* | not provided, Hemochromatosis type 2A | Conflicting interpretations of pathogenicity
(Feb 21, 2023) | criteria provided, conflicting interpretations |
| - 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 |