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Items: 1 to 100 of 432

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:97873920-97887367
FANCCFanconi anemia complementation group CLikely pathogenic
(Mar 15, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr1:114454021
GRCh38:
Chr1:113911399
DCLRE1BFanconi anemia complementation group CPathogeniccriteria provided, single submitter
3.
GRCh37:
Chr1:114449676
GRCh38:
Chr1:113907054
DCLRE1BD83GFanconi anemia complementation group CPathogeniccriteria provided, single submitter
4.
GRCh37:
Chr9:97912300
GRCh38:
Chr9:95150018
AOPEP, FANCCD197EFanconi anemia complementation group CUncertain significanceno assertion criteria provided
5.
GRCh37:
Chr9:98011450
GRCh38:
Chr9:95249168
FANCCQ42*Fanconi anemia complementation group CLikely pathogenic
(Aug 22, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr9:97873920-98002930
FANCCFanconi anemia complementation group CLikely pathogenic
(Nov 16, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr9:97864021
GRCh38:
Chr9:95101739
AOPEP, FANCCE549QHereditary cancer-predisposing syndrome, Fanconi anemia complementation group CUncertain significance
(Apr 20, 2023)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr9:97912331
GRCh38:
Chr9:95150049
AOPEP, FANCCC187fsFanconi anemia complementation group CLikely pathogenic
(May 22, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr9:98009739
GRCh38:
Chr9:95247457
FANCCC75*Fanconi anemia complementation group CLikely pathogenic
(Apr 15, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr9:98002993-98002994
GRCh38:
Chr9:95240711-95240712
FANCCC95fsFanconi anemia complementation group CLikely pathogenic
(Mar 15, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr9:97912207-97912208
GRCh38:
Chr9:95149925-95149926
AOPEP, FANCCL228fsFanconi anemia complementation group CLikely pathogenic
(Mar 3, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr9:98002960-98002961
GRCh38:
Chr9:95240678-95240679
FANCCG106fsFanconi anemia complementation group CLikely pathogenic
(Feb 25, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr9:98009715
GRCh38:
Chr9:95247433
FANCCY83*Fanconi anemia complementation group CLikely pathogenic
(Feb 17, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr9:97879640
GRCh38:
Chr9:95117358
AOPEP, FANCCY343*Fanconi anemia complementation group CLikely pathogenic
(Nov 13, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr9:97897649
GRCh38:
Chr9:95135367
AOPEP, FANCCC274*Fanconi anemia complementation group CLikely pathogenic
(Jan 24, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr9:97933368
GRCh38:
Chr9:95171086
FANCCQ172*Fanconi anemia complementation group CLikely pathogenic
(Aug 26, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr9:98003017
GRCh38:
Chr9:95240735
FANCCQ87*Fanconi anemia complementation group CPathogenic
(May 4, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr9:97864012-97864013
GRCh38:
Chr9:95101730-95101731
FANCC, AOPEPK552*Fanconi anemia complementation group CPathogenic
(May 4, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr9:98011392
GRCh38:
Chr9:95249110
FANCCFanconi anemia, Fanconi anemia complementation group CLikely benign
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr9:97897616
GRCh38:
Chr9:95135334
AOPEP, FANCCFanconi anemia complementation group C, Fanconi anemiaLikely benign
(Sep 9, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr9:97888797
GRCh38:
Chr9:95126515
AOPEP, FANCCFanconi anemia, Fanconi anemia complementation group CLikely benign
(Aug 3, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr9:97873822
GRCh38:
Chr9:95111540
AOPEP, FANCCP418SFanconi anemia, Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
Uncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr9:98002983-98002992
GRCh38:
Chr9:95240701-95240710
FANCCC95fsHereditary cancer-predisposing syndrome, Fanconi anemia, Fanconi anemia complementation group C
Pathogenic/Likely pathogenic
(Feb 17, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr9:97934384
GRCh38:
Chr9:95172102
FANCCV131IHereditary cancer-predisposing syndrome, Fanconi anemia complementation group C, Fanconi anemia
Uncertain significance
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr9:97912248
GRCh38:
Chr9:95149966
AOPEP, FANCCL215FFanconi anemia complementation group CUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr9:97864133-97873744
FANCCFanconi anemia complementation group CLikely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr9:98011572
GRCh38:
Chr9:95249290
FANCCM1TFanconi anemia complementation group CLikely pathogenic
(Jun 28, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr9:97879667
GRCh38:
Chr9:95117385
AOPEP, FANCCF335fsFanconi anemia complementation group CPathogenic
(Sep 30, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr9:98011560
GRCh38:
Chr9:95249278
FANCCS5LFanconi anemia, Fanconi anemia complementation group C, not provided
Uncertain significance
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr9:97933391
GRCh38:
Chr9:95171109
FANCCN164THereditary cancer-predisposing syndrome, not provided, Fanconi anemia,
Fanconi anemia complementation group C
Uncertain significance
(Jul 21, 2023)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr9:97887447
GRCh38:
Chr9:95125165
AOPEP, FANCCD306VHereditary cancer-predisposing syndrome, not provided, Fanconi anemia complementation group C
Uncertain significance
(Dec 3, 2021)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr9:97933252
GRCh38:
Chr9:95170970
FANCCFanconi anemia complementation group C, not providedBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr9:97869378
GRCh38:
Chr9:95107096
AOPEP, FANCCHereditary cancer-predisposing syndrome, Fanconi anemia, Fanconi anemia complementation group C
Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr9:97933422
GRCh38:
Chr9:95171140
FANCCV154fsFanconi anemia complementation group C, Fanconi anemiaPathogenic/Likely pathogenic
(Oct 15, 2021)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr9:97869335
GRCh38:
Chr9:95107053
AOPEP, FANCCnot provided, Fanconi anemia, Fanconi anemia complementation group C
Benign/Likely benign
(Apr 2, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr9:98002983
GRCh38:
Chr9:95240701
FANCCI98TFanconi anemia, Fanconi anemia complementation group CUncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr9:97869526
GRCh38:
Chr9:95107244
AOPEP, FANCCH452RFanconi anemia complementation group C, Hereditary cancer-predisposing syndrome, Fanconi anemia
Conflicting interpretations of pathogenicity
(Dec 7, 2021)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr9:97897737
GRCh38:
Chr9:95135455
AOPEP, FANCCR245QFanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
Uncertain significance
(Jun 10, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr9:97876929
GRCh38:
Chr9:95114647
FANCC, AOPEPV379AHereditary cancer-predisposing syndrome, Fanconi anemia, Fanconi anemia complementation group C
Uncertain significance
(Dec 18, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr9:97873630
GRCh38:
Chr9:95111348
FANCC, AOPEPFanconi anemia complementation group CUncertain significance
(Jul 27, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr9:97912308
GRCh38:
Chr9:95150026
AOPEP, FANCCD195HHereditary cancer-predisposing syndrome, not provided, Fanconi anemia complementation group C
Uncertain significance
(May 13, 2021)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr9:97912226
GRCh38:
Chr9:95149944
AOPEP, FANCCA222DHereditary cancer-predisposing syndrome, Fanconi anemiaUncertain significance
(Feb 3, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr9:97933418
GRCh38:
Chr9:95171136
FANCCL155*Fanconi anemia complementation group CLikely pathogenic
(Apr 1, 2020)
criteria provided, single submitter
44.
GRCh37:
Chr9:97912230
GRCh38:
Chr9:95149948
AOPEP, FANCCE221*Fanconi anemia complementation group CLikely pathogenic
(Dec 28, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr9:97897678
GRCh38:
Chr9:95135396
AOPEP, FANCCE265*Fanconi anemia complementation group CLikely pathogenic
(Dec 25, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr9:97879640
GRCh38:
Chr9:95117358
AOPEP, FANCCY343*Fanconi anemia complementation group CLikely pathogenic
(Apr 12, 2020)
criteria provided, single submitter
47.
GRCh37:
Chr9:97876981
GRCh38:
Chr9:95114699
AOPEP, FANCCG362*Fanconi anemia complementation group CLikely pathogenic
(Feb 2, 2020)
criteria provided, single submitter
48.
GRCh37:
Chr9:98003001
GRCh38:
Chr9:95240719
FANCCW92*Fanconi anemia complementation group CLikely pathogenic
(Apr 29, 2019)
criteria provided, single submitter
49.
GRCh37:
Chr9:98002953
GRCh38:
Chr9:95240671
FANCCS108*Fanconi anemia complementation group CLikely pathogenic
(Mar 7, 2020)
criteria provided, single submitter
50.
GRCh37:
Chr9:97934422
GRCh38:
Chr9:95172140
FANCCL118*Fanconi anemia complementation group CLikely pathogenic
(Oct 24, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr9:97873764
GRCh38:
Chr9:95111482
FANCC, AOPEPQ437RHereditary cancer-predisposing syndrome, Fanconi anemia, Fanconi anemia complementation group C,
not provided
Uncertain significance
(Feb 9, 2023)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr9:97887362
GRCh38:
Chr9:95125080
AOPEP, FANCCFanconi anemia complementation group C, not provided, Fanconi anemia
Uncertain significance
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr9:97873830
GRCh38:
Chr9:95111548
FANCC, AOPEPA415EFanconi anemia, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Aug 28, 2021)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr9:98076429-98084928
GRCh38:
Chr9:95314147-95322646
FANCCFanconi anemia complementation group CUncertain significance
(Jun 25, 2020)
no assertion criteria provided
55.
GRCh37:
Chr9:97864067-97864068
GRCh38:
Chr9:95101785-95101786
FANCC, AOPEPW533*Fanconi anemia complementation group CPathogenic
(Feb 28, 2020)
no assertion criteria provided
56.
GRCh37:
Chr9:97864115-97864116
GRCh38:
Chr9:95101833-95101834
AOPEP, FANCCI518fsFanconi anemia complementation group CPathogenic
(Feb 28, 2020)
no assertion criteria provided
57.
GRCh37:
Chr9:97869387
GRCh38:
Chr9:95107105
FANCC, AOPEPFanconi anemia complementation group CPathogenic
(Feb 28, 2020)
no assertion criteria provided
58.
GRCh37:
Chr9:97873866
GRCh38:
Chr9:95111584
AOPEP, FANCCW403*Fanconi anemia complementation group CPathogenic
(Feb 28, 2020)
no assertion criteria provided
59.
GRCh37:
Chr9:97873920
GRCh38:
Chr9:95111638
FANCC, AOPEPnot provided, Fanconi anemia, Fanconi anemia complementation group C
Likely pathogenic
(Feb 15, 2023)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr9:97887368
GRCh38:
Chr9:95125086
AOPEP, FANCCFanconi anemia complementation group CLikely pathogenic
(Jul 15, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr9:97912229
GRCh38:
Chr9:95149947
AOPEP, FANCCE221fsFanconi anemia complementation group CPathogenic
(Feb 28, 2020)
no assertion criteria provided
62.
GRCh37:
Chr9:97934430-98009713
FANCCFanconi anemia complementation group CPathogenic
(Feb 28, 2020)
no assertion criteria provided
63.
GRCh37:
Chr9:98006631-98010418
GRCh38:
Chr9:95244349-95248136
FANCCFanconi anemia complementation group CPathogenic
(Feb 28, 2020)
no assertion criteria provided
64.
GRCh37:
Chr9:98011565-98011566
GRCh38:
Chr9:95249283-95249284
FANCCQ3fsFanconi anemia complementation group CUncertain significance
(Feb 28, 2020)
no assertion criteria provided
65.
GRCh37:
Chr9:98003026-98079991
FANCCFanconi anemia complementation group CPathogenic
(Feb 28, 2020)
no assertion criteria provided
66.
GRCh37:
Chr9:97912323
GRCh38:
Chr9:95150041
AOPEP, FANCCL190FFanconi anemia complementation group C, not specified, Fanconi anemia,
Hereditary cancer-predisposing syndrome
Uncertain significance
(May 18, 2023)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr9:97933415
GRCh38:
Chr9:95171133
FANCCS156fsFanconi anemia complementation group CPathogenic
(Feb 28, 2020)
no assertion criteria provided
68.
GRCh37:
Chr9:98076122-98079991
GRCh38:
Chr9:95313840-95317709
FANCCFanconi anemia complementation group CPathogenic
(Feb 28, 2020)
no assertion criteria provided
69.
GRCh37:
Chr9:97863412
GRCh38:
Chr9:95101130
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr9:97863402
GRCh38:
Chr9:95101120
AOPEP, FANCCFanconi anemia complementation group CLikely benign
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr9:97863329
GRCh38:
Chr9:95101047
AOPEP, FANCCFanconi anemia complementation group CLikely benign
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr9:97862088
GRCh38:
Chr9:95099806
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr9:97862013
GRCh38:
Chr9:95099731
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr9:97864140
GRCh38:
Chr9:95101858
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr9:97863005
GRCh38:
Chr9:95100723
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr9:97862961
GRCh38:
Chr9:95100679
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr9:97862930
GRCh38:
Chr9:95100648
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr9:97862893
GRCh38:
Chr9:95100611
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr9:97862792
GRCh38:
Chr9:95100510
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr9:97861825
GRCh38:
Chr9:95099543
AOPEP, FANCCFanconi anemia complementation group CLikely benign
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr9:97861825
GRCh38:
Chr9:95099543
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr9:97861743
GRCh38:
Chr9:95099461
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr9:97863893
GRCh38:
Chr9:95101611
AOPEP, FANCCFanconi anemia complementation group C, not providedConflicting interpretations of pathogenicity
(Jun 18, 2018)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr9:97863776
GRCh38:
Chr9:95101494
AOPEP, FANCCFanconi anemia complementation group CLikely benign
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr9:97863739
GRCh38:
Chr9:95101457
AOPEP, FANCCFanconi anemia complementation group CLikely benign
(Jan 13, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr9:97862610
GRCh38:
Chr9:95100328
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr9:97862521
GRCh38:
Chr9:95100239
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr9:97861681
GRCh38:
Chr9:95099399
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr9:97861587
GRCh38:
Chr9:95099305
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr9:97861465
GRCh38:
Chr9:95099183
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr9:97861425
GRCh38:
Chr9:95099143
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr9:97897771
GRCh38:
Chr9:95135489
AOPEP, FANCCL234VHereditary cancer-predisposing syndrome, Fanconi anemia complementation group C, Fanconi anemia
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr9:97863722
GRCh38:
Chr9:95101440
FANCC, AOPEPFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr9:97863558
GRCh38:
Chr9:95101276
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr9:97863513
GRCh38:
Chr9:95101231
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr9:97863506
GRCh38:
Chr9:95101224
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr9:97862474
GRCh38:
Chr9:95100192
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr9:97862340
GRCh38:
Chr9:95100058
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr9:97862327
GRCh38:
Chr9:95100045
AOPEP, FANCCFanconi anemia complementation group CBenign
(Apr 27, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr9:97862314
GRCh38:
Chr9:95100032
AOPEP, FANCCFanconi anemia complementation group CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
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