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Links from MedGen

Items: 67

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:133485235
GRCh38:
Chr3:133766391
TFP355S, P438S, P482SAtransferrinemiaLikely pathogenicno assertion criteria provided
2.
GRCh37:
Chr3:133497417-133497418
GRCh38:
Chr3:133778573-133778574
TFAtransferrinemiaUncertain significancecriteria provided, single submitter
3.
GRCh37:
Chr3:133487001
GRCh38:
Chr3:133768157
TFA412T, A495T, A539TAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr3:133485143
GRCh38:
Chr3:133766299
TFV407A, V324A, V451AAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr3:133473527
GRCh38:
Chr3:133754683
TFAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr3:133472533
GRCh38:
Chr3:133753689
TFY104C, Y60CAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr3:133472503
GRCh38:
Chr3:133753659
TFN94S, N50SAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr3:133483012
GRCh38:
Chr3:133764168
TFAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr3:133478168
GRCh38:
Chr3:133759324
TFI400V, I356V, I273VAtransferrinemiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr3:133476786
GRCh38:
Chr3:133757942
TFAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr3:133472449
GRCh38:
Chr3:133753605
TFA32V, A76VAtransferrinemiaLikely benign
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr3:133467427
GRCh38:
Chr3:133748583
TFA72V, A28VAtransferrinemia, not providedUncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:133467377
GRCh38:
Chr3:133748533
TFS11R, S55RAtransferrinemiaUncertain significance
(Apr 28, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr3:133476769
GRCh38:
Chr3:133757925
TFR216W, R299W, R343WAtransferrinemiaUncertain significance
(Mar 24, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:133475811
GRCh38:
Chr3:133756967
TFAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr3:133465267
GRCh38:
Chr3:133746423
TFAtransferrinemiaUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr3:133497825
GRCh38:
Chr3:133778981
TFAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr3:133475773
GRCh38:
Chr3:133756929
TFQ137E, Q220E, Q264EAtransferrinemia, Inborn genetic diseasesUncertain significance
(Mar 29, 2023)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:133475170
GRCh38:
Chr3:133756326
TFS100L, S183L, S227LAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr3:133476735
GRCh38:
Chr3:133757891
TFAtransferrinemia, not providedBenign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:133476771
GRCh38:
Chr3:133757927
TFnot provided, AtransferrinemiaConflicting interpretations of pathogenicity
(Jun 22, 2018)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr3:133465335
GRCh38:
Chr3:133746491
TFAtransferrinemia, not providedConflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr3:133478065
GRCh38:
Chr3:133759221
TFnot provided, AtransferrinemiaConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr3:133489289
GRCh38:
Chr3:133770445
TFnot specifiedBenign
(May 4, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr3:133467386
GRCh38:
Chr3:133748542
TFC58*, C14*AtransferrinemiaUncertain significance
(Nov 22, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr3:133497545
GRCh38:
Chr3:133778701
TFAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr3:133494394
GRCh38:
Chr3:133775550
TFP602Q, P475Q, P558QAtransferrinemiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr3:133494374
GRCh38:
Chr3:133775530
TFAtransferrinemiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr3:133494273
GRCh38:
Chr3:133775429
TFnot provided, AtransferrinemiaBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr3:133489425
GRCh38:
Chr3:133770581
TFAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr3:133487000
GRCh38:
Chr3:133768156
TFnot provided, AtransferrinemiaBenign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr3:133486988
GRCh38:
Chr3:133768144
TFAtransferrinemia, not providedBenign/Likely benign
(Jul 16, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr3:133486958
GRCh38:
Chr3:133768114
TFAtransferrinemia, not providedBenign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr3:133483723
GRCh38:
Chr3:133764879
TFnot provided, AtransferrinemiaBenign/Likely benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr3:133478077
GRCh38:
Chr3:133759233
TFnot provided, AtransferrinemiaConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr3:133476629
GRCh38:
Chr3:133757785
TFD296G, D169G, D252Gnot provided, AtransferrinemiaBenign/Likely benign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:133475787
GRCh38:
Chr3:133756943
TFnot provided, AtransferrinemiaBenign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr3:133475722
GRCh38:
Chr3:133756878
TFnot provided, AtransferrinemiaBenign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr3:133475176
GRCh38:
Chr3:133756332
TFI229T, I185T, I102TAtransferrinemia, Inborn genetic diseasesUncertain significance
(Mar 29, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr3:133474352
GRCh38:
Chr3:133755508
TFnot provided, AtransferrinemiaBenign
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr3:133474328
GRCh38:
Chr3:133755484
TFnot provided, AtransferrinemiaBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr3:133474289
GRCh38:
Chr3:133755445
TFnot provided, AtransferrinemiaConflicting interpretations of pathogenicity
(Apr 4, 2018)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr3:133474286
GRCh38:
Chr3:133755442
TFnot provided, AtransferrinemiaBenign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr3:133474225
GRCh38:
Chr3:133755381
TFS174L, S130L, S47Lnot provided, AtransferrinemiaLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr3:133473445
GRCh38:
Chr3:133754601
TFAtransferrinemia, not providedBenign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr3:133473430
GRCh38:
Chr3:133754586
TFAtransferrinemia, not providedBenign
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr3:133473347
GRCh38:
Chr3:133754503
TFT112A, T68AInborn genetic diseases, AtransferrinemiaUncertain significance
(Jan 26, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr3:133473346
GRCh38:
Chr3:133754502
TFAtransferrinemia, not providedBenign/Likely benign
(Sep 9, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr3:133472450
GRCh38:
Chr3:133753606
TFnot provided, AtransferrinemiaConflicting interpretations of pathogenicity
(Oct 1, 2023)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr3:133467442
GRCh38:
Chr3:133748598
TFAtransferrinemiaBenign
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr3:133467366
GRCh38:
Chr3:133748522
TFD52N, D8NAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr3:133467354
GRCh38:
Chr3:133748510
TFV48I, V4IAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr3:133467331
GRCh38:
Chr3:133748487
TFS40NAtransferrinemia, not providedConflicting interpretations of pathogenicity
(Jul 6, 2018)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr3:133467272
GRCh38:
Chr3:133748428
TFAtransferrinemiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr3:133465283
GRCh38:
Chr3:133746439
TFAtransferrinemiaBenign
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr3:133465220
GRCh38:
Chr3:133746376
TFAtransferrinemiaLikely benign
(Jan 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr3:133465201
GRCh38:
Chr3:133746357
TFAtransferrinemiaBenign
(Mar 6, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr3:133465168
GRCh38:
Chr3:133746324
TFAtransferrinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr3:133494414
GRCh38:
Chr3:133775570
TFR609W, R482W, R565WAtransferrinemiaLikely pathogenicno assertion criteria provided
60.
GRCh37:
Chr3:133478150
GRCh38:
Chr3:133759306
TFE394K, E350K, E267Knot specifiedUncertain significance
(Sep 6, 2023)
criteria provided, single submitter
61.
GRCh37:
Chr3:133475812
GRCh38:
Chr3:133756968
TFG277S, G150S, G233Snot provided, AtransferrinemiaBenign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr3:133472451
GRCh38:
Chr3:133753607
TFD77N, D33NAtransferrinemiaPathogenic
(Oct 15, 2004)
no assertion criteria provided
63.
GRCh37:
Chr3:133485220
GRCh38:
Chr3:133766376
TFA477P, A350P, A433PAtransferrinemiaPathogenic
(Dec 15, 2000)
no assertion criteria provided
64.
GRCh37:
Chr3:133474266-133474268
GRCh38:
Chr3:133755422-133755424
TFQ144fs, Q188fs, Q61fsAtransferrinemiaPathogenic
(Dec 15, 2000)
no assertion criteria provided
65.
GRCh37:
Chr3:133494354
GRCh38:
Chr3:133775510
TFP589S, P545S, P462Snot provided, AtransferrinemiaBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr3:133496032
GRCh38:
Chr3:133777188
TFG671E, G627E, G544Enot provided, not specified, Atransferrinemia
Conflicting interpretations of pathogenicity
(Jun 19, 2023)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr3:133476698
GRCh38:
Chr3:133757854
TFH319R, H192R, H275Rnot provided, AtransferrinemiaBenign
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
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