Total 57 pathogenic variants reported for Hemochromatosis type 2A 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_213653.4(HJV):c.959G>T (p.Gly320Val) SNV
Germline
Chr1:146018399 Pathogenic Hemochromatosis type 1
Hemochromatosis type 2A
Condition: not provided
Juvenile hemochromatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA252249 rs_74315323

12 SubmittersRCV000002462RCV000002461RCV000791424RCV004017220

NM_213653.4(HJV):c.976C>T (p.Arg326Ter) SNV
Germline
Chr1:146018382 Pathogenic/Likely pathogenic Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA252250 rs_74315324

5 SubmittersRCV000002463RCV001216451

NM_213653.4(HJV):c.665T>A (p.Ile222Asn) SNV
Germline
Chr1:146018693 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA252252 rs_74315325

5 SubmittersRCV000002464RCV001065184RCV004689403

NM_213653.4(HJV):c.842T>C (p.Ile281Thr) SNV
Germline
Chr1:146018516 Pathogenic Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA252253 rs_74315326

3 SubmittersRCV000002465RCV001092895

NM_213653.4(HJV):c.238T>C (p.Cys80Arg) SNV
Germline
Chr1:146019594 Pathogenic Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Single Submitter
CA252255 rs_28940586

2 SubmittersRCV000002466RCV001851583

NM_213653.4(HJV):c.302T>C (p.Leu101Pro) SNV
Germline
Chr1:146019530 Pathogenic Hemochromatosis type 2A
Condition: not provided
HJV-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA252256 rs_74315327

3 SubmittersRCV000002467RCV001070671RCV003415628

NM_213653.4(HJV):c.963C>A (p.Cys321Ter) SNV
Germline
Chr1:146018395 Pathogenic Hemochromatosis type 2A
Hemochromatosis type 1
No Assertion Criteria Provided
CA252257 rs_121434374

1 SubmittersRCV000002468RCV000002469

NM_213653.4(HJV):c.160A>T (p.Arg54Ter) SNV
Germline
Chr1:146019672 Pathogenic Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Single Submitter
CA252260 rs_121434375

2 SubmittersRCV000002471RCV001851584

NM_213653.4(HJV):c.345C>T (p.Ile115=) SNV
Germline
Chr1:146019487 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1053793 rs_142575526

3 SubmittersRCV000399108RCV000862314

NM_213653.4(HJV):c.756C>T (p.Ile252=) SNV
Germline
Chr1:146018602 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1053889 rs_148524451

2 SubmittersRCV000353272RCV000862000

NM_213653.4(HJV):c.522T>C (p.His174=) SNV
Germline
Chr1:146019310 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1053842 rs_587646422

2 SubmittersRCV000276150RCV001449113

NM_213653.4(HJV):c.1113C>T (p.Pro371=) SNV
Germline
Chr1:146018245 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10608057 rs_886045239

2 SubmittersRCV000264102RCV003678984

NM_213653.4(HJV):c.435G>C (p.Pro145=) SNV
Germline
Chr1:146019397 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1053820 rs_370184725

3 SubmittersRCV000368453RCV000862565

NM_213653.4(HJV):c.201A>C (p.Gly67=) SNV
Germline
Chr1:146019631 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1053764 rs_782445206

2 SubmittersRCV000306706RCV001452853

NM_213653.4(HJV):c.792G>C (p.Ser264=) SNV
Germline
Chr1:146018566 Conflicting classifications of pathogenicity Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Conflicting Classifications
CA1053895 rs_35710964

2 SubmittersRCV000644854RCV001102156

NM_213653.4(HJV):c.432C>G (p.Ala144=) SNV
Germline
Chr1:146019400 Conflicting classifications of pathogenicity Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Conflicting Classifications
CA1053817 rs_139401358

2 SubmittersRCV000644853RCV001100165

NM_213653.4(HJV):c.1006G>T (p.Gly336Ter) SNV
Germline
Chr1:146018352 Pathogenic Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA342134645 rs_1553769428

3 SubmittersRCV000678040RCV001861857

NM_213653.4(HJV):c.950G>A (p.Cys317Tyr) SNV
Germline
Chr1:146018408 Conflicting classifications of pathogenicity Condition: not provided
Hemochromatosis type 2A
Juvenile hemochromatosis
Criteria Provided
Conflicting Classifications
CA342135224 rs_1553769457

3 SubmittersRCV001366486RCV002470996RCV003493750

NM_213653.4(HJV):c.885C>T (p.Ser295=) SNV
Germline
Chr1:146018473 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1053914 rs_200721681

2 SubmittersRCV001102159RCV001421924

NM_213653.4(HJV):c.780A>G (p.Gly260=) SNV
Germline
Chr1:146018578 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA420603304 rs_1652494092

2 SubmittersRCV001102155RCV002069710

NM_213653.4(HJV):c.510C>T (p.Phe170=) SNV
Germline
Chr1:146019322 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1053837 rs_139281553

3 SubmittersRCV001100166RCV001509754

NM_213653.4(HJV):c.1097T>A (p.Leu366Ter) SNV
Germline
Chr1:146018261 Pathogenic Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA342132968 rs_1205047449

3 SubmittersRCV001239774RCV001828937

NM_213653.4(HJV):c.1153C>T (p.Arg385Ter) SNV
Germline
Chr1:146018205 Likely pathogenic Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA1053970 rs_782803011

2 SubmittersRCV001377301RCV005038162

NM_213653.4(HJV):c.295G>A (p.Gly99Arg) SNV
Germline
Chr1:146019537 Pathogenic/Likely pathogenic Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA342142702 rs_1553769745

2 SubmittersRCV001378689RCV005408880

NM_213653.4(HJV):c.187C>T (p.Arg63Ter) SNV
Germline
Chr1:146019645 Pathogenic/Likely pathogenic Hemochromatosis type 2A Criteria Provided
Multiple Submitters
No Conflicts
CA342143559 rs_1652592444

2 SubmittersRCV001794942

NM_213653.4(HJV):c.3G>A (p.Met1Ile) SNV
Germline
Chr1:146020229 Likely pathogenic Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA342145306 rs_2101986552

2 SubmittersRCV002028922RCV005032100

NM_213653.4(HJV):c.572G>C (p.Trp191Ser) SNV
Germline
Chr1:146019260 Likely pathogenic Hemochromatosis type 2A Criteria Provided
Single Submitter
CA342139194 rs_2101984222

1 SubmittersRCV002250395

NM_213653.4(HJV):c.657+2T>A SNV
Germline
Chr1:146019173 Likely pathogenic Hemochromatosis type 2A Criteria Provided
Single Submitter
CA342138460 rs_2101984042

1 SubmittersRCV002271958

NM_213653.4(HJV):c.862C>T (p.Arg288Trp) SNV
Germline
Chr1:146018496 Conflicting classifications of pathogenicity Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Conflicting Classifications
CA1053907 rs_782493762

2 SubmittersRCV002800432RCV003485793

NM_213653.4(HJV):c.3G>C (p.Met1Ile) SNV
Germline
Chr1:146020229 Likely pathogenic Hemochromatosis type 2A Criteria Provided
Single Submitter
CA342145301 rs_2101986552

1 SubmittersRCV003236365

NM_213653.4(HJV):c.516C>A (p.Asp172Glu) SNV
Germline
Chr1:146019316 Conflicting classifications of pathogenicity not specified
Hemochromatosis type 2A
Criteria Provided
Conflicting Classifications
CA342139749 rs_782708481

2 SubmittersRCV004306803RCV005399309

NM_213653.4(HJV):c.196G>T (p.Gly66Ter) SNV
Germline
Chr1:146019636 Pathogenic Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Single Submitter
CA342143488 rs_1469129426

2 SubmittersRCV003562288RCV005616670

NM_213653.4(HJV):c.265T>C (p.Cys89Arg) SNV
Germline
Chr1:146019567 Likely pathogenic Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA342142909 rs_1559280338

2 SubmittersRCV003562289RCV005419651

NM_213653.4(HJV):c.769C>T (p.Arg257Ter) SNV
Germline
Chr1:146018589 Pathogenic/Likely pathogenic Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA342137128 rs_1652495294

2 SubmittersRCV003738007RCV005040495

NM_213653.4(HJV):c.143C>A (p.Ser48Ter) SNV
Germline
Chr1:146019689 Pathogenic/Likely pathogenic Condition: not provided
Hemochromatosis type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA342143812 rs_1305404947

2 SubmittersRCV003839476RCV005040550

NM_213653.4(HJV):c.950G>C (p.Cys317Ser) SNV
Germline
Chr1:146018408 Conflicting classifications of pathogenicity Hemochromatosis type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033220RCV006489246

NM_213653.4(HJV):c.963C>G (p.Cys321Trp) SNV
Germline
Chr1:146018395 Likely pathogenic Hemochromatosis type 2A Criteria Provided
Single Submitter

1 SubmittersRCV005033268

NM_213653.4(HJV):c.3G>T (p.Met1Ile) SNV
Germline
Chr1:146020229 Likely pathogenic Hemochromatosis type 2A Criteria Provided
Single Submitter

1 SubmittersRCV005032948

NM_213653.4(HJV):c.307T>C (p.Phe103Leu) SNV
Germline
Chr1:146019525 Likely pathogenic Hemochromatosis type 2A Criteria Provided
Single Submitter

1 SubmittersRCV005043044

NM_213653.4(HJV):c.1A>T (p.Met1Leu) SNV
Germline
Chr1:146020231 Likely pathogenic Hemochromatosis type 2A Criteria Provided
Single Submitter

1 SubmittersRCV005042974

NM_213653.4(HJV):c.516C>G (p.Asp172Glu) SNV
Germline
Chr1:146019316 Likely pathogenic Hemochromatosis type 2A Criteria Provided
Single Submitter

1 SubmittersRCV005088593

NM_213653.4(HJV):c.509T>C (p.Phe170Ser) SNV
Germline
Chr1:146019323 Pathogenic Hemochromatosis type 2A Criteria Provided
Single Submitter

1 SubmittersRCV005431368

NM_213653.4(HJV):c.658-1G>A SNV
Germline
Chr1:146018701 Likely pathogenic Hemochromatosis type 2A No Assertion Criteria Provided

1 SubmittersRCV005618122