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Items: 1 to 100 of 1441

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh38:
Chr16:89764114-89781847
FANCAFanconi anemia complementation group APathogenic
(Aug 24, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr16:89818649-89883044
FANCAFanconi anemia complementation group APathogenic
(May 26, 2023)
criteria provided, single submitter
3.
GRCh38:
Chr16:89764796-89811592
FANCAFanconi anemia complementation group APathogenic
(Jun 26, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr16:89851365
GRCh38:
Chr16:89784957
FANCAF456SFanconi anemia complementation group ALikely pathogenic
(May 4, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr16:89858901
GRCh38:
Chr16:89792493
FANCAL354QFanconi anemia complementation group AUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr16:89838086-89838087
GRCh38:
Chr16:89771678-89771679
FANCAM717fsFanconi anemia complementation group APathogenic
(Feb 23, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr16:89816223
GRCh38:
Chr16:89749815
FANCAF1052LFanconi anemia complementation group AUncertain significance
(Mar 7, 2020)
criteria provided, single submitter
8.
GRCh37:
Chr16:89831405
GRCh38:
Chr16:89764997
FANCAL891FFanconi anemia complementation group AUncertain significance
(Sep 21, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr16:89839733
GRCh38:
Chr16:89773325
FANCAT654SFanconi anemia complementation group AUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr16:89807211
GRCh38:
Chr16:89740803
FANCA, ZNF276Fanconi anemia complementation group ALikely pathogenic
(Nov 22, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr16:89882973-89882974
GRCh38:
Chr16:89816565-89816566
FANCAR18fsFanconi anemia complementation group APathogenic
(Dec 2, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr16:89849489
GRCh38:
Chr16:89783081
FANCAL498fsFanconi anemia complementation group APathogenic
(Jan 25, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr16:89838150
GRCh38:
Chr16:89771742
FANCAS696IFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr16:89849326
GRCh38:
Chr16:89782918
FANCAV523FFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(Dec 2, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr16:89877132
GRCh38:
Chr16:89810724
FANCAE169QFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(Sep 24, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr16:89858338
GRCh38:
Chr16:89791930
FANCAE408*Fanconi anemia complementation group ALikely pathogenic
(Dec 17, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr16:89869744-89869745
GRCh38:
Chr16:89803336-89803337
FANCAV207fs, V239fsFanconi anemia complementation group ALikely pathogenic
(Dec 17, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr16:89839721
GRCh38:
Chr16:89773313
FANCAG658*Fanconi anemia complementation group ALikely pathogenic
(Dec 7, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr16:89813027
GRCh38:
Chr16:89746619
FANCAQ1160*Fanconi anemia complementation group ALikely pathogenic
(Mar 30, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr16:89842162
GRCh38:
Chr16:89775754
FANCAE630*Fanconi anemia complementation group ALikely pathogenic
(Mar 10, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr16:89846338
GRCh38:
Chr16:89779930
FANCAE552*Fanconi anemia complementation group ALikely pathogenic
(Feb 7, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr16:89818618
GRCh38:
Chr16:89752210
FANCAY998*Fanconi anemia complementation group ALikely pathogenic
(Nov 5, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr16:89877462
GRCh38:
Chr16:89811054
FANCAQ101*Fanconi anemia complementation group ALikely pathogenic
(Jan 25, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr16:89805376
GRCh38:
Chr16:89738968
FANCA, ZNF276P1392S, P1393LFanconi anemia complementation group AUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr16:89838165
GRCh38:
Chr16:89771757
FANCAN691IFanconi anemia complementation group AUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr16:89816222
GRCh38:
Chr16:89749814
FANCAF1052SFanconi anemia complementation group AUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr16:89811461
GRCh38:
Chr16:89745053
FANCAE1178KFanconi anemia complementation group AUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr16:89807245
GRCh38:
Chr16:89740837
FANCA, ZNF276L1265FFanconi anemia complementation group AUncertain significance
(Sep 20, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr16:89862349
GRCh38:
Chr16:89795941
FANCAL324PFanconi anemia complementation group ALikely pathogeniccriteria provided, single submitter
30.
GRCh37:
Chr16:89858395
GRCh38:
Chr16:89791987
FANCAV389LFanconi anemia complementation group ALikely pathogenic
(Sep 22, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr16:89828356
GRCh38:
Chr16:89761948
FANCAFanconi anemia complementation group APathogenic
(Sep 1, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr16:89838118
GRCh38:
Chr16:89771710
FANCAN707DInborn genetic diseases, Fanconi anemia complementation group AUncertain significance
(Jun 15, 2023)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr16:89839781
GRCh38:
Chr16:89773373
FANCAG638*Fanconi anemia, Fanconi anemia complementation group ALikely pathogenic
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr16:89805083
GRCh38:
Chr16:89738675
FANCA, ZNF276V1432LFanconi anemia complementation group A, Fanconi anemiaConflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr16:89845236
GRCh38:
Chr16:89778828
FANCAR600HFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr16:89882998-89882999
GRCh38:
Chr16:89816590-89816591
FANCA, LOC112486223S9LFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
37.
FANCAFanconi anemia complementation group APathogenic
(Apr 6, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr16:89857827
GRCh38:
Chr16:89791419
FANCAY448CFanconi anemia complementation group APathogenic
(Jun 6, 2022)
no assertion criteria provided
39.
GRCh37:
Chr16:89831397
GRCh38:
Chr16:89764989
FANCAW893*Fanconi anemia complementation group APathogenic
(Jun 6, 2022)
no assertion criteria provided
40.
GRCh37:
Chr16:89877142
GRCh38:
Chr16:89810734
FANCAF166fsFanconi anemia complementation group APathogenic
(Jun 6, 2022)
no assertion criteria provided
41.
GRCh37:
Chr2:58390573-58390583
GRCh38:
Chr2:58163438-58163448
FANCLL254fs, L259fs, L269fsFanconi anemia complementation group APathogenic
(May 9, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr16:89839680
GRCh38:
Chr16:89773272
FANCAFanconi anemia complementation group AUncertain significance
(Apr 28, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr16:89881004
GRCh38:
Chr16:89814596
FANCAFanconi anemia complementation group A, Fanconi anemiaLikely benign
(Sep 21, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr16:89831490
GRCh38:
Chr16:89765082
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr16:89813317
GRCh38:
Chr16:89746909
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr16:89828435
GRCh38:
Chr16:89762027
FANCAFanconi anemia complementation group A, Fanconi anemiaLikely benign
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr16:89828344
GRCh38:
Chr16:89761936
FANCAFanconi anemia complementation group A, Fanconi anemiaLikely benign
(Apr 15, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr16:89837062
GRCh38:
Chr16:89770654
FANCAFanconi anemia, Fanconi anemia complementation group ABenign/Likely benign
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr16:89858972
GRCh38:
Chr16:89792564
FANCAFanconi anemia, Fanconi anemia complementation group ABenign/Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr16:89813114
GRCh38:
Chr16:89746706
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Aug 20, 2021)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr16:89836231-89836233
GRCh38:
Chr16:89769823-89769825
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Dec 31, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr16:89831492
GRCh38:
Chr16:89765084
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr16:89818604
GRCh38:
Chr16:89752196
FANCAN1003SFanconi anemia complementation group A, Fanconi anemiaConflicting interpretations of pathogenicity
(Oct 11, 2022)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr16:89845431
GRCh38:
Chr16:89779023
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr16:89874795-89874800
GRCh38:
Chr16:89808387-89808392
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr16:89813223
GRCh38:
Chr16:89746815
FANCAFanconi anemia complementation group A, Fanconi anemiaLikely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr16:89869768-89869769
GRCh38:
Chr16:89803360-89803361
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Jan 10, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr16:89845340
GRCh38:
Chr16:89778932
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:89836253
GRCh38:
Chr16:89769845
FANCAFanconi anemia complementation group A, Fanconi anemiaLikely benign
(May 11, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr16:89877324
GRCh38:
Chr16:89810916
FANCAFanconi anemia complementation group A, Fanconi anemiaLikely benign
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:89849530
GRCh38:
Chr16:89783122
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr16:89838066
GRCh38:
Chr16:89771658
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Sep 10, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr16:89845338
GRCh38:
Chr16:89778930
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr16:89857919
GRCh38:
Chr16:89791511
FANCAQ417HFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr16:89858410
GRCh38:
Chr16:89792002
FANCAV384IFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr16:89811442
GRCh38:
Chr16:89745034
FANCAR1184QFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr16:89849504
GRCh38:
Chr16:89783096
FANCAI493VFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr16:89836290
GRCh38:
Chr16:89769882
FANCAS820NFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Jun 2, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr16:89831348
GRCh38:
Chr16:89764940
FANCAL910IFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr16:89838148
GRCh38:
Chr16:89771740
FANCAV697LFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(Dec 4, 2021)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr16:89857957
GRCh38:
Chr16:89791549
FANCAFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Jun 3, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:89838111
GRCh38:
Chr16:89771703
FANCAP709Lnot provided, Fanconi anemia, Fanconi anemia complementation group A
Conflicting interpretations of pathogenicity
(May 16, 2023)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr16:89837023
GRCh38:
Chr16:89770615
FANCAT724MOvarian cancer, Fanconi anemia, Fanconi anemia complementation group A
Conflicting interpretations of pathogenicity
(Jan 19, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr16:89831286
GRCh38:
Chr16:89764878
FANCAFanconi anemia complementation group A, Fanconi anemiaLikely benign
(Aug 26, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr16:89858321
GRCh38:
Chr16:89791913
FANCAFanconi anemia complementation group A, Fanconi anemiaConflicting interpretations of pathogenicity
(Nov 2, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr16:89866042
GRCh38:
Chr16:89799634
FANCAT234M, T266MFanconi anemia, Fanconi anemia complementation group AConflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr16:89805671
GRCh38:
Chr16:89739263
FANCA, ZNF276A1346VFanconi anemia, Fanconi anemia complementation group AConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr16:89836633
GRCh38:
Chr16:89770225
FANCAM753VFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Dec 26, 2021)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr16:89809338
GRCh38:
Chr16:89742930
FANCAS1212FFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr16:89851384
GRCh38:
Chr16:89784976
FANCAFanconi anemia, Fanconi anemia complementation group ALikely benign
(Mar 16, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr16:89845241
GRCh38:
Chr16:89778833
FANCAD598EFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr16:89836624
GRCh38:
Chr16:89770216
FANCAR756CFanconi anemia complementation group A, not specified, Fanconi anemia
Uncertain significance
(May 18, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr16:89836982
GRCh38:
Chr16:89770574
FANCAP738SFanconi anemia, Fanconi anemia complementation group AConflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr16:89862326
GRCh38:
Chr16:89795918
FANCAP332TFanconi anemia, Fanconi anemia complementation group AUncertain significance
(May 5, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr16:89805332
GRCh38:
Chr16:89738924
FANCA, ZNF276L1406F, N1408YFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr16:89839691-89839692
GRCh38:
Chr16:89773283-89773284
FANCAS668fsFanconi anemia, Fanconi anemia complementation group APathogenic/Likely pathogenic
(Apr 2, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr16:89825043
GRCh38:
Chr16:89758635
FANCAG975RFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(Aug 18, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr16:89806438
GRCh38:
Chr16:89740030
FANCA, ZNF276I1300VFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr16:89805354
GRCh38:
Chr16:89738946
FANCA, ZNF276A1399VFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Apr 29, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:89837014
GRCh38:
Chr16:89770606
FANCAC727YFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr16:89813257
GRCh38:
Chr16:89746849
FANCAI1130MFanconi anemia, Fanconi anemia complementation group AUncertain significance
(May 10, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr16:89849299
GRCh38:
Chr16:89782891
FANCAE532QFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr16:89849483
GRCh38:
Chr16:89783075
FANCAP500SFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(May 30, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr16:89882365
GRCh38:
Chr16:89815957
FANCAP37SFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Nov 23, 2021)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr16:89877469
GRCh38:
Chr16:89811061
FANCAL98FFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(Mar 21, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr16:89874771
GRCh38:
Chr16:89808363
FANCAS144C, S176CFanconi anemia complementation group A, Fanconi anemiaUncertain significance
(Nov 10, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr16:89869692
GRCh38:
Chr16:89803284
FANCAT224N, T256NFanconi anemia, Fanconi anemia complementation group AUncertain significance
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr16:89874496-89888566
FANCAFanconi anemia complementation group Anot providedno assertion provided
99.
GRCh37:
Chr16:89831341
GRCh38:
Chr16:89764933
FANCAT912IFanconi anemia complementation group A, Fanconi anemia, not specified
Conflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr16:89836329
GRCh38:
Chr16:89769921
FANCAA807VFanconi anemia complementation group A, Fanconi anemia, not specified
Uncertain significance
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
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