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Items: 1 to 100 of 128

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:22646860
GRCh38:
Chr11:22625314
FANCFQ166PFanconi anemia complementation group FUncertain significance
(Apr 8, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr11:22646669
GRCh38:
Chr11:22625123
FANCFP230SFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr11:22647073-22647074
GRCh38:
Chr11:22625527-22625528
FANCFL95fsFanconi anemia complementation group FPathogenic
(Jun 6, 2022)
no assertion criteria provided
4.
GRCh37:
Chr11:22647238
GRCh38:
Chr11:22625692
FANCFY40CFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr11:22647253
GRCh38:
Chr11:22625707
FANCFL35WFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Oct 13, 2021)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:22647055
GRCh38:
Chr11:22625509
FANCFR101PInborn genetic diseases, Fanconi anemia, Fanconi anemia complementation group F
Uncertain significance
(May 23, 2023)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr11:22646987
GRCh38:
Chr11:22625441
FANCFA124SFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:22646652
GRCh38:
Chr11:22625106
FANCFQ235HFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:22646405
GRCh38:
Chr11:22624859
FANCF, LOC130005443P318SFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:22646938
GRCh38:
Chr11:22625392
FANCFR140QFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Jan 4, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:22647008
GRCh38:
Chr11:22625462
FANCFP117SFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:22646537-22646540
GRCh38:
Chr11:22624991-22624994
FANCFV273fsFanconi anemia complementation group FLikely pathogenic
(Nov 21, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr11:22646823
GRCh38:
Chr11:22625277
FANCFK179fsFanconi anemia complementation group FPathogenic
(Jun 11, 2021)
no assertion criteria provided
14.
GRCh37:
Chr11:22646906-22646919
GRCh38:
Chr11:22625360-22625373
FANCFFanconi anemia complementation group FPathogenic
(Jun 16, 2021)
no assertion criteria provided
15.
GRCh37:
Chr11:22647268
GRCh38:
Chr11:22625722
FANCFT30SFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Jan 17, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr11:22646365
GRCh38:
Chr11:22624819
LOC130005443, FANCFT331IFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Mar 15, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:22646774
GRCh38:
Chr11:22625228
FANCFR195SFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Jan 26, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr11:22646740
GRCh38:
Chr11:22625194
FANCFA206VFanconi anemia complementation group F, Inborn genetic diseases, Fanconi anemia
Uncertain significance
(May 6, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr11:22646924
GRCh38:
Chr11:22625378
FANCFM145VFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Apr 5, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr11:22646536
GRCh38:
Chr11:22624990
FANCFY274SFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Aug 7, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:22647274
GRCh38:
Chr11:22625728
FANCFP28RFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Jun 2, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:22646798
GRCh38:
Chr11:22625252
FANCFR187GFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr11:22646905
GRCh38:
Chr11:22625359
FANCFY151FFanconi anemia, Inborn genetic diseases, Fanconi anemia complementation group F
Uncertain significance
(Mar 6, 2023)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:22647019
GRCh38:
Chr11:22625473
FANCFQ113RFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Nov 17, 2021)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:22646776
GRCh38:
Chr11:22625230
FANCFE194GFanconi anemia complementation group FUncertain significance
(Jan 27, 2020)
criteria provided, single submitter
26.
GRCh37:
Chr11:22647004
GRCh38:
Chr11:22625458
FANCFG118VFanconi anemia complementation group FUncertain significance
(Mar 30, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr11:22646993
GRCh38:
Chr11:22625447
FANCFR122GFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:22647266
GRCh38:
Chr11:22625720
FANCFV31MFanconi anemia, Fanconi anemia complementation group F, not provided
Uncertain significance
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr11:22646446
GRCh38:
Chr11:22624900
FANCF, LOC130005444W304SFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Mar 15, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr11:22647025
GRCh38:
Chr11:22625479
FANCFL111Pnot specified, Fanconi anemia complementation group F, Fanconi anemia
Uncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr11:22646977
GRCh38:
Chr11:22625431
FANCFE127GFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Jun 1, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:22647299
GRCh38:
Chr11:22625753
FANCFT20AFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Sep 17, 2021)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr11:22646861
GRCh38:
Chr11:22625315
FANCFQ166*Fanconi anemia complementation group FPathogenic
(Apr 8, 2012)
no assertion criteria provided
34.
GRCh37:
Chr11:22647138
GRCh38:
Chr11:22625592
FANCFR74fsFanconi anemiaPathogenic
(Aug 28, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr11:22647273
GRCh38:
Chr11:22625727
FANCFA29fsFanconi anemia, Fanconi anemia complementation group FPathogenic/Likely pathogenic
(Apr 14, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:22645904
GRCh38:
Chr11:22624358
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr11:22645896
GRCh38:
Chr11:22624350
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr11:22645820
GRCh38:
Chr11:22624274
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr11:22645771
GRCh38:
Chr11:22624225
FANCFFanconi anemia complementation group FBenign
(Apr 28, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr11:22645693
GRCh38:
Chr11:22624147
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr11:22645677
GRCh38:
Chr11:22624131
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr11:22644348
GRCh38:
Chr11:22622802
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr11:22644158
GRCh38:
Chr11:22622612
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr11:22645494
GRCh38:
Chr11:22623948
FANCFFanconi anemia complementation group FBenign
(Apr 27, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr11:22646677
GRCh38:
Chr11:22625131
FANCFH227RFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Apr 26, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:22646387
GRCh38:
Chr11:22624841
FANCF, LOC130005443K324EFanconi anemia, Fanconi anemia complementation group FConflicting interpretations of pathogenicity
(Mar 10, 2022)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr11:22645450
GRCh38:
Chr11:22623904
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr11:22645375
GRCh38:
Chr11:22623829
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr11:22644812
GRCh38:
Chr11:22623266
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr11:22646294
GRCh38:
Chr11:22624748
FANCF, LOC130005443R355CFanconi anemia complementation group FUncertain significance
(Dec 2, 2021)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr11:22646293
GRCh38:
Chr11:22624747
FANCF, LOC130005443R355HFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr11:22645946
GRCh38:
Chr11:22624400
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr11:22644792
GRCh38:
Chr11:22623246
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr11:22644748
GRCh38:
Chr11:22623202
FANCFFanconi anemia complementation group FLikely benign
(Jan 12, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr11:22644720
GRCh38:
Chr11:22623174
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr11:22647295
GRCh38:
Chr11:22625749
FANCFT21SFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:22647164
GRCh38:
Chr11:22625618
FANCFQ65*not provided, Fanconi anemiaLikely pathogenic
(Jun 2, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:22646753
GRCh38:
Chr11:22625207
FANCFnot providedLikely pathogenic
(Nov 1, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr11:22647078
GRCh38:
Chr11:22625532
FANCFnot specified, Fanconi anemia complementation group F, Fanconi anemia
Conflicting interpretations of pathogenicity
(Aug 7, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr11:22646868
GRCh38:
Chr11:22625322
FANCFM163IFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Sep 16, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:22646720
GRCh38:
Chr11:22625174
FANCFP213SFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr11:22647146
GRCh38:
Chr11:22625600
FANCFG71SFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Feb 25, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr11:22647038-22647039
GRCh38:
Chr11:22625492-22625493
FANCFA107PFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Apr 26, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr11:22647208
GRCh38:
Chr11:22625662
FANCFR50Pnot provided, Fanconi anemia, Fanconi anemia complementation group F
Uncertain significance
(Aug 8, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr11:22646421
GRCh38:
Chr11:22624875
FANCFQ312Hnot specified, Fanconi anemia, Fanconi anemia complementation group F
Uncertain significance
(Oct 12, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr11:22646562
GRCh38:
Chr11:22625016
FANCFS265RFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Sep 22, 2021)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:22646784
GRCh38:
Chr11:22625238
FANCFS191Rnot provided, not specified, Fanconi anemia,
Inborn genetic diseases, Fanconi anemia complementation group F
Conflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr11:22647343
GRCh38:
Chr11:22625797
FANCFL5PFanconi anemia, not provided, Fanconi anemia complementation group F
Uncertain significance
(Sep 8, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr11:22646710
GRCh38:
Chr11:22625164
FANCFR216PFanconi anemia, Fanconi anemia complementation group F, not specified,
not provided
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr11:22646270
GRCh38:
Chr11:22624724
LOC130005443, FANCFQ363*not specified, Fanconi anemia complementation group F, Fanconi anemia,
not provided
Uncertain significance
(Feb 15, 2023)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr11:22646911
GRCh38:
Chr11:22625365
FANCFN149SFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:22647290
GRCh38:
Chr11:22625744
FANCFV23FFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Jul 14, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr11:22647387
GRCh38:
Chr11:22625841
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr11:22647377
GRCh38:
Chr11:22625831
FANCFFanconi anemia complementation group FUncertain significance
(Apr 18, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr11:22647355
GRCh38:
Chr11:22625809
FANCFM1TFanconi anemia, Fanconi anemia complementation group FConflicting interpretations of pathogenicity
(Jul 18, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr11:22647256
GRCh38:
Chr11:22625710
FANCFA34Vnot provided, Fanconi anemia complementation group F, Fanconi anemia
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr11:22647158
GRCh38:
Chr11:22625612
FANCFnot specified, Fanconi anemia complementation group F, Fanconi anemia
Benign/Likely benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:22647147
GRCh38:
Chr11:22625601
FANCFFanconi anemia complementation group F, Fanconi anemiaConflicting interpretations of pathogenicity
(May 4, 2021)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr11:22647007
GRCh38:
Chr11:22625461
FANCFP117Lnot specified, Fanconi anemia complementation group F, Fanconi anemia
Conflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr11:22646921
GRCh38:
Chr11:22625375
FANCFL146VFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr11:22646810
GRCh38:
Chr11:22625264
FANCFE183QFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr11:22646497
GRCh38:
Chr11:22624951
FANCFY287CFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr11:22646351
GRCh38:
Chr11:22624805
FANCF, LOC130005443D336NFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr11:22646225
GRCh38:
Chr11:22624679
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr11:22646126
GRCh38:
Chr11:22624580
FANCFFanconi anemia complementation group FBenign
(Jan 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr11:22646025
GRCh38:
Chr11:22624479
FANCFFanconi anemia complementation group F, not providedBenign
(Jan 10, 2019)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr11:22645945
GRCh38:
Chr11:22624399
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr11:22645913
GRCh38:
Chr11:22624367
FANCFFanconi anemia complementation group FBenign
(Jan 12, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr11:22645733
GRCh38:
Chr11:22624187
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr11:22645667
GRCh38:
Chr11:22624121
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr11:22645635
GRCh38:
Chr11:22624089
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr11:22645608
GRCh38:
Chr11:22624062
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr11:22645600
GRCh38:
Chr11:22624054
FANCFFanconi anemia complementation group FBenign
(Jan 13, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr11:22645524
GRCh38:
Chr11:22623978
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr11:22645523
GRCh38:
Chr11:22623977
FANCFFanconi anemia complementation group FLikely benign
(Jan 13, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr11:22645413
GRCh38:
Chr11:22623867
FANCFFanconi anemia complementation group FBenign
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr11:22645138
GRCh38:
Chr11:22623592
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr11:22645113
GRCh38:
Chr11:22623567
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr11:22645042
GRCh38:
Chr11:22623496
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr11:22644723
GRCh38:
Chr11:22623177
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
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