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Links from MedGen

Items: 1 to 100 of 450

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:148894190
GRCh38:
Chr3:149176403
CPV1010IDeficiency of ferroxidaseUncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr3:148923994
GRCh38:
Chr3:149206207
CPI390TDeficiency of ferroxidaseUncertain significance
(Jul 31, 2019)
criteria provided, single submitter
3.
GRCh37:
Chr3:148927943-148927945
GRCh38:
Chr3:149210156-149210158
CPDeficiency of ferroxidaseLikely benign
(May 3, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr3:148928096
GRCh38:
Chr3:149210309
CPDeficiency of ferroxidaseLikely benign
(Sep 23, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr3:148919904
GRCh38:
Chr3:149202117
CPH445YDeficiency of ferroxidase, Inborn genetic diseasesUncertain significance
(Jul 28, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr3:148919931
GRCh38:
Chr3:149202144
CPR436*Deficiency of ferroxidasePathogenic
(May 29, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr3:148905945
GRCh38:
Chr3:149188158
CPDeficiency of ferroxidaseLikely benign
(May 4, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr3:148930392
GRCh38:
Chr3:149212605
CPDeficiency of ferroxidaseLikely benign
(Jun 28, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr3:148928123
GRCh38:
Chr3:149210336
CPD146EDeficiency of ferroxidaseUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr3:148895668
GRCh38:
Chr3:149177881
CPDeficiency of ferroxidaseLikely benign
(Mar 18, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr3:148928180
GRCh38:
Chr3:149210393
CPDeficiency of ferroxidaseLikely benign
(Jan 12, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr3:148905827
GRCh38:
Chr3:149188040
CPDeficiency of ferroxidaseLikely benign
(Feb 23, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr3:148904372
GRCh38:
Chr3:149186585
CPR671QDeficiency of ferroxidaseUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr3:148896339
GRCh38:
Chr3:149178552
CPL914RDeficiency of ferroxidaseUncertain significance
(Jan 18, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr3:148930422
GRCh38:
Chr3:149212635
CPDeficiency of ferroxidaseLikely benign
(Oct 13, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr3:148925157
GRCh38:
Chr3:149207370
CPDeficiency of ferroxidaseLikely benign
(Oct 17, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr3:148895698
GRCh38:
Chr3:149177911
CPY983HDeficiency of ferroxidaseUncertain significance
(May 21, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr3:148901410
GRCh38:
Chr3:149183623
CPDeficiency of ferroxidaseLikely benign
(Oct 24, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr3:148903084
GRCh38:
Chr3:149185297
CPW743GDeficiency of ferroxidaseUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr3:148901331
GRCh38:
Chr3:149183544
CPV783MDeficiency of ferroxidaseUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr3:148925234
GRCh38:
Chr3:149207447
CPP318SDeficiency of ferroxidaseUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr3:148930451
GRCh38:
Chr3:149212664
CPD61YDeficiency of ferroxidaseUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr3:148927936
GRCh38:
Chr3:149210149
CPDeficiency of ferroxidaseLikely benign
(Apr 9, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr3:148930355
GRCh38:
Chr3:149212568
CPL93IDeficiency of ferroxidaseUncertain significance
(Dec 7, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr3:148895619
GRCh38:
Chr3:149177832
CPDeficiency of ferroxidaseLikely benign
(Aug 9, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr3:148939463
GRCh38:
Chr3:149221676
CPH39QInborn genetic diseases, Deficiency of ferroxidaseUncertain significance
(Feb 16, 2023)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:148930242
GRCh38:
Chr3:149212455
CPH130QDeficiency of ferroxidase, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Jun 7, 2023)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr3:148930382
GRCh38:
Chr3:149212595
CPI84VDeficiency of ferroxidaseUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:148927177
GRCh38:
Chr3:149209390
CPDeficiency of ferroxidaseLikely benign
(Jan 21, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr3:148923937
GRCh38:
Chr3:149206150
CPDeficiency of ferroxidaseLikely benign
(Oct 5, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr3:148901301
GRCh38:
Chr3:149183514
CPR793CDeficiency of ferroxidaseUncertain significance
(Jun 11, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr3:148904425
GRCh38:
Chr3:149186638
CPDeficiency of ferroxidaseLikely benign
(Mar 19, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr3:148895720
GRCh38:
Chr3:149177933
CPDeficiency of ferroxidaseLikely benign
(Dec 12, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr3:148925135
GRCh38:
Chr3:149207348
CPDeficiency of ferroxidaseConflicting interpretations of pathogenicity
(Jul 12, 2022)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr3:148923962
GRCh38:
Chr3:149206175
CPP401SDeficiency of ferroxidaseUncertain significance
(Apr 29, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr3:148916219
GRCh38:
Chr3:149198432
CPF550IDeficiency of ferroxidaseUncertain significance
(May 10, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr3:148895711
GRCh38:
Chr3:149177924
CPDeficiency of ferroxidaseLikely benign
(Jan 12, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr3:148894100
GRCh38:
Chr3:149176313
CPC1040RDeficiency of ferroxidaseUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr3:148917599
GRCh38:
Chr3:149199812
CPN467KDeficiency of ferroxidaseUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr3:148894107
GRCh38:
Chr3:149176320
CPDeficiency of ferroxidaseLikely benign
(Nov 1, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr3:148927174-148927175
GRCh38:
Chr3:149209387-149209388
CPDeficiency of ferroxidaseLikely benign
(Jan 21, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr3:148904332
GRCh38:
Chr3:149186545
CPDeficiency of ferroxidaseLikely benign
(Feb 14, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr3:148901336
GRCh38:
Chr3:149183549
CPK781TDeficiency of ferroxidaseUncertain significance
(Jan 16, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr3:148897378
GRCh38:
Chr3:149179591
CPP876SDeficiency of ferroxidaseUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr3:148895667
GRCh38:
Chr3:149177880
CPL993SDeficiency of ferroxidaseUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr3:148904328
GRCh38:
Chr3:149186541
CPH686YDeficiency of ferroxidaseUncertain significance
(Jan 6, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr3:148930496
GRCh38:
Chr3:149212709
CPDeficiency of ferroxidaseUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr3:148901271
GRCh38:
Chr3:149183484
CPE803QDeficiency of ferroxidase, Inborn genetic diseasesUncertain significance
(Jun 22, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr3:148939540
GRCh38:
Chr3:149221753
CPS14GDeficiency of ferroxidaseLikely benign
(Aug 31, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr3:148896339
GRCh38:
Chr3:149178552
CPL914QDeficiency of ferroxidaseUncertain significance
(Nov 30, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr3:148904421-148904426
GRCh38:
Chr3:149186634-149186639
CPDeficiency of ferroxidaseUncertain significance
(Jun 4, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr3:148896249
GRCh38:
Chr3:149178462
CPK944RDeficiency of ferroxidaseUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr3:148899782
GRCh38:
Chr3:149181995
CPDeficiency of ferroxidaseLikely benign
(Dec 24, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr3:148904333
GRCh38:
Chr3:149186546
CPT684MDeficiency of ferroxidaseUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr3:148925277
GRCh38:
Chr3:149207490
CPDeficiency of ferroxidaseLikely benign
(Dec 16, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr3:148916316
GRCh38:
Chr3:149198529
CPDeficiency of ferroxidaseLikely benign
(Oct 24, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr3:148927085
GRCh38:
Chr3:149209298
CPDeficiency of ferroxidaseBenign
(May 4, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr3:148896348
GRCh38:
Chr3:149178561
CPR911IDeficiency of ferroxidaseUncertain significance
(Dec 19, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr3:148905955
GRCh38:
Chr3:149188168
CPT583IDeficiency of ferroxidaseUncertain significance
(Dec 27, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr3:148904373
GRCh38:
Chr3:149186586
CPR671WDeficiency of ferroxidaseUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr3:148927101
GRCh38:
Chr3:149209314
CPE226DDeficiency of ferroxidaseUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr3:148899772-148899773
GRCh38:
Chr3:149181985-149181986
CPDeficiency of ferroxidaseBenign
(Jul 29, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr3:148897382
GRCh38:
Chr3:149179595
CPDeficiency of ferroxidaseLikely benign
(Oct 17, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr3:148917533
GRCh38:
Chr3:149199746
CPDeficiency of ferroxidaseLikely benign
(Aug 9, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr3:148919983
GRCh38:
Chr3:149202196
CPDeficiency of ferroxidaseLikely benign
(Aug 5, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr3:148925167
GRCh38:
Chr3:149207380
CPN340SDeficiency of ferroxidaseUncertain significance
(Jan 18, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr3:148930232
GRCh38:
Chr3:149212445
CPDeficiency of ferroxidaseUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr3:148930494
GRCh38:
Chr3:149212707
CPDeficiency of ferroxidaseUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr3:148896220
GRCh38:
Chr3:149178433
CPE954KDeficiency of ferroxidaseUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr3:148901283
GRCh38:
Chr3:149183496
CPK799QDeficiency of ferroxidaseUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr3:148939500
GRCh38:
Chr3:149221713
CPG27ADeficiency of ferroxidaseUncertain significance
(May 18, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:148939561
GRCh38:
Chr3:149221774
CPG7RDeficiency of ferroxidaseUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr3:148925414
GRCh38:
Chr3:149207627
CPDeficiency of ferroxidaseLikely benign
(May 16, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr3:148895759
GRCh38:
Chr3:149177972
CPN962KDeficiency of ferroxidaseUncertain significance
(May 25, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr3:148905860
GRCh38:
Chr3:149188073
CPQ615*Deficiency of ferroxidasePathogenic
(Sep 5, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr3:148904469
GRCh38:
Chr3:149186682
CPG639RDeficiency of ferroxidaseUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr3:148896421
GRCh38:
Chr3:149178634
CPDeficiency of ferroxidaseUncertain significance
(Apr 9, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr3:148916169
GRCh38:
Chr3:149198382
CPDeficiency of ferroxidaseLikely benign
(Aug 22, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr3:148904447
GRCh38:
Chr3:149186660
CPL646SDeficiency of ferroxidaseUncertain significance
(Jun 4, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr3:148928100
GRCh38:
Chr3:149210313
CPQ154PDeficiency of ferroxidaseUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr3:148891524
GRCh38:
Chr3:149173737
CPDeficiency of ferroxidaseLikely benign
(Sep 8, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr3:148928186
GRCh38:
Chr3:149210399
CPDeficiency of ferroxidaseLikely benign
(Sep 15, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr3:148928009
GRCh38:
Chr3:149210222
CPDeficiency of ferroxidaseLikely benign
(Jun 26, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr3:148924131
GRCh38:
Chr3:149206344
CPDeficiency of ferroxidaseLikely benign
(Jul 25, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr3:148919913
GRCh38:
Chr3:149202126
CPE442KInborn genetic diseases, Deficiency of ferroxidaseUncertain significance
(Nov 21, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr3:148895619
GRCh38:
Chr3:149177832
CPDeficiency of ferroxidaseLikely benign
(Oct 16, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr3:148897368
GRCh38:
Chr3:149179581
CPY879FDeficiency of ferroxidaseUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr3:148904393
GRCh38:
Chr3:149186606
CPT664IDeficiency of ferroxidaseUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr3:148916341
GRCh38:
Chr3:149198554
CPV509ADeficiency of ferroxidaseUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:148925202
GRCh38:
Chr3:149207415
CPDeficiency of ferroxidaseLikely benign
(Jul 28, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr3:148901406-148901407
GRCh38:
Chr3:149183619-149183620
CPDeficiency of ferroxidaseBenign
(Nov 1, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr3:148905998-148906002
GRCh38:
Chr3:149188211-149188215
CPDeficiency of ferroxidaseLikely benign
(Nov 9, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr3:148903169
GRCh38:
Chr3:149185382
CPDeficiency of ferroxidaseLikely benign
(Sep 25, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr3:148930219
GRCh38:
Chr3:149212432
CPDeficiency of ferroxidaseBenign
(Oct 28, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr3:148904485
GRCh38:
Chr3:149186698
CPDeficiency of ferroxidaseLikely benign
(Sep 26, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr3:148901311
GRCh38:
Chr3:149183524
CPDeficiency of ferroxidaseLikely benign
(Aug 23, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr3:148928090
GRCh38:
Chr3:149210303
CPDeficiency of ferroxidaseLikely benign
(Dec 2, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr3:148925134
GRCh38:
Chr3:149207347
CPDeficiency of ferroxidaseLikely benign
(Oct 13, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr3:148923975
GRCh38:
Chr3:149206188
CPDeficiency of ferroxidaseLikely benign
(Mar 2, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr3:148904461
GRCh38:
Chr3:149186674
CPDeficiency of ferroxidaseLikely benign
(May 20, 2021)
criteria provided, single submitter
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