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Items: 1 to 100 of 224

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:35075754
GRCh38:
Chr9:35075757
FANCGFanconi anemia, Fanconi anemia complementation group GUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr9:35074180
GRCh38:
Chr9:35074183
FANCGS598RFanconi anemia, Fanconi anemia complementation group GUncertain significance
(Jul 17, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr9:35076435
GRCh38:
Chr9:35076438
FANCGT357MFanconi anemia, Fanconi anemia complementation group GUncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:35076502
GRCh38:
Chr9:35076505
FANCGA335TFanconi anemia complementation group GUncertain significance
(Nov 27, 2019)
criteria provided, single submitter
5.
GRCh37:
Chr9:35074161
GRCh38:
Chr9:35074164
FANCGR605CFanconi anemia complementation group GUncertain significance
(Jul 18, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr9:35078334
GRCh38:
Chr9:35078337
FANCGE105GFanconi anemia complementation group GUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr9:35079208
GRCh38:
Chr9:35079211
FANCGR39*Fanconi anemia complementation group GPathogenic/Likely pathogenic
(Apr 20, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr9:35075450
GRCh38:
Chr9:35075453
FANCGFanconi anemia, Fanconi anemia complementation group GLikely benign
(Sep 25, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr9:35077358
GRCh38:
Chr9:35077361
FANCGFanconi anemia, Fanconi anemia complementation group GLikely benign
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr9:35074156
GRCh38:
Chr9:35074159
FANCGFanconi anemia complementation group G, Fanconi anemiaLikely benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr9:35077404-35077406
GRCh38:
Chr9:35077407-35077409
FANCGFanconi anemia, Fanconi anemia complementation group GLikely benign
(Aug 4, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr9:35076571
GRCh38:
Chr9:35076574
FANCGV312IFanconi anemia complementation group G, Fanconi anemiaUncertain significance
(Mar 26, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr9:35077354-35077355
GRCh38:
Chr9:35077357-35077358
FANCGS185fsFanconi anemia complementation group G, Fanconi anemiaPathogenic
(May 22, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr9:35075541
GRCh38:
Chr9:35075544
FANCGV452IFanconi anemia complementation group G, not specifiedUncertain significance
(Mar 17, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr9:35077249
GRCh38:
Chr9:35077252
FANCGnot specified, Fanconi anemia complementation group G, Fanconi anemia
Benign/Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr9:35076976
GRCh38:
Chr9:35076979
FANCGR257CFanconi anemia, Fanconi anemia complementation group GUncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr9:35074215
GRCh38:
Chr9:35074218
FANCGFanconi anemia complementation group GLikely pathogenic
(Nov 13, 2020)
criteria provided, single submitter
18.
GRCh37:
Chr9:35076735
GRCh38:
Chr9:35076738
FANCGE304*Fanconi anemia complementation group GPathogenic
(Dec 14, 2020)
criteria provided, single submitter
19.
GRCh37:
Chr9:35079214
GRCh38:
Chr9:35079217
FANCGL37VFanconi anemia complementation group GUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr9:35074471
GRCh38:
Chr9:35074474
FANCGH553YFanconi anemia complementation group GUncertain significance
(Apr 11, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr9:35078351
GRCh38:
Chr9:35078354
FANCGFanconi anemia, Fanconi anemia complementation group GConflicting interpretations of pathogenicity
(May 2, 2022)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr9:35077366
GRCh38:
Chr9:35077369
FANCGL181VFanconi anemia complementation group GUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr9:35076984
GRCh38:
Chr9:35076987
FANCGS254FFanconi anemia complementation group GUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr9:35076803
GRCh38:
Chr9:35076806
FANCGP281fsFanconi anemia complementation group GLikely pathogenic
(Jul 22, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr9:35076478
GRCh38:
Chr9:35076481
FANCGQ343*Fanconi anemia complementation group GLikely pathogenic
(Jul 22, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr9:35079540
GRCh38:
Chr9:35079543
FANCGFanconi anemia complementation group GUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr9:35076429
GRCh38:
Chr9:35076432
FANCGR359KFanconi anemia complementation group GUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr9:35079528
GRCh38:
Chr9:35079531
FANCGFanconi anemia complementation group GLikely benign
(Jul 14, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr9:35079361
GRCh38:
Chr9:35079364
FANCGnot provided, Fanconi anemia complementation group GBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr9:35077203
GRCh38:
Chr9:35077206
FANCGnot provided, Fanconi anemia complementation group GBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr9:35076850
GRCh38:
Chr9:35076853
FANCGFanconi anemia, Fanconi anemia complementation group GLikely benign
(Apr 8, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr9:35076548
GRCh38:
Chr9:35076551
FANCGFanconi anemia complementation group G, Fanconi anemiaLikely benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr9:35075608
GRCh38:
Chr9:35075611
FANCGFanconi anemia, Fanconi anemia complementation group GLikely benign
(Mar 29, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr9:35078743
GRCh38:
Chr9:35078746
FANCGFanconi anemia, Fanconi anemia complementation group GConflicting interpretations of pathogenicity
(Nov 3, 2021)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr9:35079199
GRCh38:
Chr9:35079202
FANCGFanconi anemia, Fanconi anemia complementation group GLikely benign
(May 29, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr9:35075283
GRCh38:
Chr9:35075286
FANCGFanconi anemia, Fanconi anemia complementation group GConflicting interpretations of pathogenicity
(May 13, 2022)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr9:35075584-35075585
GRCh38:
Chr9:35075587-35075588
FANCGD437fsFanconi anemiaPathogenic
(Jul 3, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr9:35075752
GRCh38:
Chr9:35075755
FANCGFanconi anemiaPathogenic
(Aug 19, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr9:35076858
GRCh38:
Chr9:35076861
FANCGQ263*Fanconi anemia, Fanconi anemia complementation group GPathogenic
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr9:35074969-35074971
GRCh38:
Chr9:35074972-35074974
FANCGFanconi anemia complementation group G, Fanconi anemiaLikely pathogenic
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr9:35075041
GRCh38:
Chr9:35075044
FANCGA507TFanconi anemia complementation group G, Fanconi anemiaUncertain significance
(May 14, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr9:35075603
GRCh38:
Chr9:35075606
FANCGM431ROvarian cancer, Fanconi anemiaConflicting interpretations of pathogenicity
(Jun 2, 2022)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr9:35078616
GRCh38:
Chr9:35078619
FANCGR98LFanconi anemiaUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr9:35078226
GRCh38:
Chr9:35078229
FANCGR141HFanconi anemia, Fanconi anemia complementation group GUncertain significance
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr9:35074197
GRCh38:
Chr9:35074200
FANCGFanconi anemia complementation group GUncertain significance
(Aug 14, 2020)
no assertion criteria provided
46.
GRCh37:
Chr9:35076017
GRCh38:
Chr9:35076020
FANCGD362GFanconi anemia complementation group GUncertain significance
(Apr 29, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr9:35075598
GRCh38:
Chr9:35075601
FANCGR433WFanconi anemiaUncertain significance
(May 25, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr9:35075703-35075713
GRCh38:
Chr9:35075706-35075716
FANCGE395fsFanconi anemia complementation group GPathogenic
(Mar 8, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr9:35074426
GRCh38:
Chr9:35074429
FANCGT568AFanconi anemia, Ovarian cancer, Fanconi anemia complementation group G
Conflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr9:35076529
GRCh38:
Chr9:35076532
FANCGE326*not provided, Fanconi anemia, Fanconi anemia complementation group G
Pathogenic/Likely pathogenic
(Jan 11, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr9:35076020
GRCh38:
Chr9:35076023
FANCGG361EFanconi anemiaUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr9:35075549
GRCh38:
Chr9:35075552
FANCGP449LFanconi anemiaUncertain significance
(Sep 26, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr9:35078200
GRCh38:
Chr9:35078203
FANCGW150RFanconi anemiaUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr9:35075673
GRCh38:
Chr9:35075676
FANCGG408SFanconi anemia, not specifiedUncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr9:35078250
GRCh38:
Chr9:35078253
FANCGP133LFanconi anemia complementation group G, Fanconi anemiaUncertain significance
(Jun 18, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr9:35074383
GRCh38:
Chr9:35074386
FANCGH582RFanconi anemiaUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr9:35074202-35074203
GRCh38:
Chr9:35074205-35074206
FANCGL591fsFanconi anemia complementation group GPathogenic
(Feb 28, 2020)
no assertion criteria provided
58.
GRCh37:
Chr9:35074211
GRCh38:
Chr9:35074214
FANCGS588FFanconi anemia complementation group GPathogenic
(Feb 7, 2011)
no assertion criteria provided
59.
GRCh37:
Chr9:35074214
GRCh38:
Chr9:35074217
FANCGFanconi anemia complementation group GPathogenic
(Feb 28, 2020)
no assertion criteria provided
60.
GRCh37:
Chr9:35074214
GRCh38:
Chr9:35074217
FANCGFanconi anemia complementation group GPathogenic
(Feb 7, 2011)
no assertion criteria provided
61.
GRCh37:
Chr9:35074379
GRCh38:
Chr9:35074382
FANCGD584fsFanconi anemia complementation group GPathogenic
(Feb 28, 2020)
no assertion criteria provided
62.
GRCh37:
Chr9:35074413
GRCh38:
Chr9:35074416
FANCGW572*Fanconi anemiaPathogenic
(Jun 13, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr9:35074479
GRCh38:
Chr9:35074482
FANCGT550fsFanconi anemia complementation group GPathogenic
(Feb 28, 2020)
no assertion criteria provided
64.
GRCh37:
Chr9:35074923
GRCh38:
Chr9:35074926
FANCGFanconi anemia complementation group GUncertain significance
(Feb 28, 2020)
no assertion criteria provided
65.
GRCh37:
Chr9:35074924
GRCh38:
Chr9:35074927
FANCGG546RFanconi anemia complementation group GPathogenic
(Feb 7, 2011)
no assertion criteria provided
66.
GRCh37:
Chr9:35074967
GRCh38:
Chr9:35074970
FANCGA533fsFanconi anemiaPathogenic
(Aug 27, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr9:35074998
GRCh38:
Chr9:35075001
FANCGG521EFanconi anemia complementation group GPathogenic
(Feb 7, 2011)
no assertion criteria provided
68.
GRCh37:
Chr9:35074999
GRCh38:
Chr9:35075002
FANCGG521*Fanconi anemia complementation group GPathogenic
(Feb 7, 2011)
no assertion criteria provided
69.
GRCh37:
Chr9:35075032
GRCh38:
Chr9:35075035
FANCGQ510*Fanconi anemia complementation group GPathogenic
(Feb 28, 2020)
no assertion criteria provided
70.
GRCh37:
Chr9:35075536
GRCh38:
Chr9:35075539
FANCGA454fsFanconi anemia complementation group GLikely pathogenic
(Feb 28, 2020)
no assertion criteria provided
71.
GRCh37:
Chr9:35075678-35075679
GRCh38:
Chr9:35075681-35075682
FANCGQ406fsFanconi anemia complementation group GPathogenic
(Feb 28, 2020)
no assertion criteria provided
72.
GRCh37:
Chr9:35075742
GRCh38:
Chr9:35075745
FANCGP385TFanconi anemiaUncertain significance
(Jul 2, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr9:35075752
GRCh38:
Chr9:35075755
FANCGFanconi anemia complementation group GPathogenic
(Feb 7, 2011)
no assertion criteria provided
74.
GRCh37:
Chr9:35075954
GRCh38:
Chr9:35075957
FANCGFanconi anemia complementation group GPathogenic
(Feb 7, 2011)
no assertion criteria provided
75.
GRCh37:
Chr9:35076496-35076497
GRCh38:
Chr9:35076499-35076500
FANCGP337fsFanconi anemia complementation group GPathogenic
(Dec 8, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr9:35076746
GRCh38:
Chr9:35076749
FANCGL300fsFanconi anemia complementation group GUncertain significance
(Feb 28, 2020)
no assertion criteria provided
77.
GRCh37:
Chr9:35076761-35076762
GRCh38:
Chr9:35076764-35076765
FANCGD295fsFanconi anemiaPathogenic
(Aug 19, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr9:35076868
GRCh38:
Chr9:35076871
FANCGFanconi anemiaLikely pathogenic
(Sep 28, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr9:35077260
GRCh38:
Chr9:35077263
FANCGFanconi anemiaLikely pathogenic
(Jun 23, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr9:35077287
GRCh38:
Chr9:35077290
FANCGL207fsFanconi anemia, Fanconi anemia complementation group GPathogenic
(Mar 16, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr9:35077335
GRCh38:
Chr9:35077338
FANCGL191*Fanconi anemiaPathogenic
(Mar 19, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr9:35077342
GRCh38:
Chr9:35077345
FANCGE189*Fanconi anemiaPathogenic
(Jul 19, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr9:35079457
GRCh38:
Chr9:35079460
FANCGR22PFanconi anemia complementation group GPathogenic
(Apr 8, 2012)
no assertion criteria provided
84.
GRCh37:
Chr9:35078600
GRCh38:
Chr9:35078603
FANCGFanconi anemia complementation group GPathogenic
(Feb 28, 2020)
no assertion criteria provided
85.
GRCh37:
Chr9:35078653
GRCh38:
Chr9:35078656
FANCGQ86*Fanconi anemia, Pituitary stalk interruption syndromeLikely pathogenic
(Oct 16, 2020)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr9:35078662
GRCh38:
Chr9:35078665
FANCGS83fsFanconi anemia complementation group GUncertain significance
(Feb 28, 2020)
no assertion criteria provided
87.
GRCh37:
Chr9:35078664-35078665
GRCh38:
Chr9:35078667-35078668
FANCGA82fsFanconi anemia complementation group GPathogenic
(Feb 28, 2020)
no assertion criteria provided
88.
GRCh37:
Chr9:35078697
GRCh38:
Chr9:35078700
FANCGL71PFanconi anemiaPathogenic
(Jun 2, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr9:35078730
GRCh38:
Chr9:35078733
FANCGL60fsFanconi anemia complementation group GUncertain significance
(Feb 28, 2020)
no assertion criteria provided
90.
GRCh37:
Chr9:35079147
GRCh38:
Chr9:35079150
FANCGFanconi anemiaLikely pathogenic
(Sep 20, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr9:35079205
GRCh38:
Chr9:35079208
FANCGQ40*Fanconi anemiaPathogenic
(May 12, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr9:35079239
GRCh38:
Chr9:35079242
FANCGFanconi anemia complementation group GLikely pathogenic
(Aug 26, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr9:35076506
GRCh38:
Chr9:35076509
FANCGFanconi anemia complementation group G, Fanconi anemiaConflicting interpretations of pathogenicity
(Sep 24, 2021)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr9:35076503
GRCh38:
Chr9:35076506
FANCGFanconi anemia complementation group GUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr9:35076478
GRCh38:
Chr9:35076481
FANCGQ343EFanconi anemia complementation group GUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr9:35075743
GRCh38:
Chr9:35075746
FANCGFanconi anemia complementation group GUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr9:35075740
GRCh38:
Chr9:35075743
FANCGFanconi anemia complementation group G, Fanconi anemiaConflicting interpretations of pathogenicity
(Nov 19, 2021)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr9:35075738
GRCh38:
Chr9:35075741
FANCGP386HFanconi anemia complementation group G, Fanconi anemiaUncertain significance
(Feb 18, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr9:35079863
GRCh38:
Chr9:35079866
FANCGFanconi anemia complementation group GLikely benign
(Jan 13, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr9:35079797
GRCh38:
Chr9:35079800
FANCGFanconi anemia complementation group GUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
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