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Items: 1 to 100 of 113

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:58390614
GRCh38:
Chr2:58163479
FANCLH244Y, H249Y, H259Y, H264YFanconi anemia complementation group LUncertain significance
(Dec 9, 2020)
criteria provided, single submitter
2.
GRCh37:
Chr2:58468393
GRCh38:
Chr2:58241258
FANCLN19SFanconi anemia complementation group LUncertain significance
(Mar 31, 2020)
criteria provided, single submitter
3.
GRCh37:
Chr2:58468426-58468427
GRCh38:
Chr2:58241291-58241292
FANCLL8fsFanconi anemia complementation group LLikely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr2:58392910
GRCh38:
Chr2:58165775
FANCLL214F, L219F, L229FFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Jun 2, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr2:58425812
GRCh38:
Chr2:58198677
FANCLFanconi anemia complementation group L, Fanconi anemiaLikely benign
(Jun 9, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr2:58386943-58386944
GRCh38:
Chr2:58159808-58159809
FANCL, VRK2Fanconi anemia complementation group L, Fanconi anemiaLikely benign
(May 10, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr2:58459258
GRCh38:
Chr2:58232123
FANCLFanconi anemia, Fanconi anemia complementation group LLikely benign
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:58431376
GRCh38:
Chr2:58204241
FANCLFanconi anemia, Fanconi anemia complementation group LBenign/Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr2:58425744
GRCh38:
Chr2:58198609
FANCLFanconi anemia, Fanconi anemia complementation group LLikely benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:58431253
GRCh38:
Chr2:58204118
FANCLFanconi anemia complementation group L, Fanconi anemiaLikely benign
(Oct 1, 2021)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr2:58453862
GRCh38:
Chr2:58226727
FANCLFanconi anemia, Fanconi anemia complementation group LLikely pathogenic
(Oct 15, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr2:58392939
GRCh38:
Chr2:58165804
FANCLM209T, M219T, M204TFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Oct 8, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr2:58449143
GRCh38:
Chr2:58222008
FANCLA103EFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Apr 23, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr2:58453895
GRCh38:
Chr2:58226760
FANCLM81VFanconi anemia, Fanconi anemia complementation group LUncertain significance
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr2:58390059
GRCh38:
Chr2:58162924
FANCLQ287R, Q282R, Q297RFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Nov 8, 2021)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr2:58468421
GRCh38:
Chr2:58241286
FANCLR10GFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr2:58388764
GRCh38:
Chr2:58161629
FANCLM305L, M320L, M310LFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:58431308
GRCh38:
Chr2:58204173
FANCLA143VFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Apr 8, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr2:58431344
GRCh38:
Chr2:58204209
FANCLT131IFanconi anemia, not specified, Fanconi anemia complementation group L
Uncertain significance
(Apr 14, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:58390588-58390598
GRCh38:
Chr2:58163453-58163463
FANCLP249fs, P254fs, P264fsFanconi anemia complementation group LPathogeniccriteria provided, single submitter
21.
GRCh37:
Chr2:58392985
GRCh38:
Chr2:58165850
FANCLQ189*, Q194*, Q204*Fanconi anemia complementation group LPathogenic
(Nov 3, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr2:58392909
GRCh38:
Chr2:58165774
FANCLL214P, L219P, L229PFanconi anemia complementation group LUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr2:58453843-58453844
GRCh38:
Chr2:58226708-58226709
FANCLFanconi anemia complementation group L, not providedBenign
(Nov 11, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr2:58468399
GRCh38:
Chr2:58241264
FANCLP17RFanconi anemia, not specified, Fanconi anemia complementation group L
Uncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr2:58389991
GRCh38:
Chr2:58162856
FANCLFanconi anemia complementation group L, Fanconi anemiaLikely benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr2:58468429
GRCh38:
Chr2:58241294
FANCLS7IFanconi anemia, Fanconi anemia complementation group LUncertain significance
(May 28, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:58468422
GRCh38:
Chr2:58241287
FANCLL9FFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Apr 17, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:58425769
GRCh38:
Chr2:58198634
FANCLV167AFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:58468427
GRCh38:
Chr2:58241292
FANCLL8MFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Aug 21, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:58390062
GRCh38:
Chr2:58162927
FANCLL286S, L281S, L296SFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr2:58388685
GRCh38:
Chr2:58161550
FANCLQ346P, Q331P, Q336PFanconi anemia complementation group LUncertain significance
(Nov 19, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr2:58468451
GRCh38:
Chr2:58241316
FANCLFanconi anemia complementation group L, not specifiedUncertain significance
(Dec 16, 2021)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:58387282-58387283
GRCh38:
Chr2:58160147-58160148
FANCLS351fs, S356fs, S366fsFanconi anemia complementation group L, not specifiedUncertain significance
(Jul 13, 2021)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr2:58456962
GRCh38:
Chr2:58229827
FANCLR68QFanconi anemia, Fanconi anemia complementation group LUncertain significance
(May 12, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:58392871
GRCh38:
Chr2:58165736
FANCLR227G, R232G, R242GFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Dec 16, 2021)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr2:58425781
GRCh38:
Chr2:58198646
FANCLP163RFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr2:58388777
GRCh38:
Chr2:58161642
FANCLFanconi anemia complementation group LUncertain significance
(Nov 24, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr2:58468409
GRCh38:
Chr2:58241274
FANCLL14fsFanconi anemia, Fanconi anemia complementation group LPathogenic/Likely pathogenic
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr2:58390044
GRCh38:
Chr2:58162909
FANCLV287G, V302G, V292GFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Oct 29, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:58431335
GRCh38:
Chr2:58204200
FANCLS134IFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr2:58468429
GRCh38:
Chr2:58241294
FANCLS7NFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Dec 27, 2021)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr2:58387243
GRCh38:
Chr2:58160108
FANCLFanconi anemia, Fanconi anemia complementation group LPathogenic
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:58433394
GRCh38:
Chr2:58206259
FANCLFanconi anemiaUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr2:58431300
GRCh38:
Chr2:58204165
FANCLR146GFanconi anemia complementation group LUncertain significance
(Apr 28, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr2:58425776
GRCh38:
Chr2:58198641
FANCLY165DFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr2:58425745
GRCh38:
Chr2:58198610
FANCLA175VFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:58425736
GRCh38:
Chr2:58198601
FANCLT178KFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Jan 28, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:58392873
GRCh38:
Chr2:58165738
FANCLR241H, R231H, R226HFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:58390190
GRCh38:
Chr2:58163055
FANCLFanconi anemia complementation group LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr2:58390048
GRCh38:
Chr2:58162913
FANCLD291Y, D301Y, D286YFanconi anemia complementation group LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr2:58468483
GRCh38:
Chr2:58241348
FANCLFanconi anemia complementation group LUncertain significance
(Apr 28, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr2:58468482
GRCh38:
Chr2:58241347
FANCLFanconi anemia complementation group LUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr2:58468474
GRCh38:
Chr2:58241339
FANCLFanconi anemia complementation group LUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr2:58386811
GRCh38:
Chr2:58159676
FANCL, VRK2A386T, A504T, A481TFanconi anemia complementation group LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr2:58386805
GRCh38:
Chr2:58159670
VRK2, FANCLF384L, F502L, F479Lnot provided, Fanconi anemia complementation group LBenign/Likely benign
(Jun 10, 2019)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr2:58386772
GRCh38:
Chr2:58159637
VRK2, FANCLR373C, R468C, R491CFanconi anemia complementation group LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr2:58386735
GRCh38:
Chr2:58159600
VRK2, FANCLFanconi anemia complementation group LUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr2:58386619
GRCh38:
Chr2:58159484
VRK2, FANCLD417H, D322H, D440HFanconi anemia complementation group LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr2:58468444
GRCh38:
Chr2:58241309
FANCLA2Vnot specified, Fanconi anemia complementation group LUncertain significance
(Aug 21, 2020)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:58386466
GRCh38:
Chr2:58159331
VRK2, FANCLFanconi anemia complementation group LUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr2:58386385
GRCh38:
Chr2:58159250
FANCL, VRK2Fanconi anemia complementation group LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr2:58392901
GRCh38:
Chr2:58165766
FANCLE232Q, E217Q, E222QFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr2:58392888
GRCh38:
Chr2:58165753
FANCLR221Q, R226Q, R236QFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:58392970
GRCh38:
Chr2:58165835
FANCLI209V, I199V, I194VFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:58431358
GRCh38:
Chr2:58204223
FANCLFanconi anemia, Fanconi anemia complementation group LConflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr2:58468373
GRCh38:
Chr2:58241238
FANCLE26QFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Apr 21, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:58390604-58390605
GRCh38:
Chr2:58163469-58163470
FANCLM247fs, M252fs, M262fsFanconi anemia complementation group LLikely pathogenic
(May 15, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr2:58387284-58387287
GRCh38:
Chr2:58160149-58160152
FANCLQ355fs, Q350fs, Q365fsFanconi anemia complementation group LLikely pathogenic
(May 15, 2019)
criteria provided, single submitter
69.
GRCh37:
Chr2:58392929
GRCh38:
Chr2:58165794
FANCLFanconi anemia, Fanconi anemia complementation group LLikely benign
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr2:58453890
GRCh38:
Chr2:58226755
FANCLS82RFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:58459196-58459197
GRCh38:
Chr2:58232061-58232062
FANCLFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Mar 12, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr2:58392997-58392999
GRCh38:
Chr2:58165862-58165864
FANCLI184del, I189del, I199delFanconi anemia complementation group LUncertain significance
(Jun 16, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr2:58390023
GRCh38:
Chr2:58162888
FANCLA294V, A299V, A309VFanconi anemia, Fanconi anemia complementation group LUncertain significance
(May 25, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr2:58390652
GRCh38:
Chr2:58163517
FANCLG231D, G236D, G246DFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:58468447
GRCh38:
Chr2:58241312
FANCLM1TFanconi anemia, Fanconi anemia complementation group L, not specified,
not provided
Conflicting interpretations of pathogenicity
(Dec 1, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr2:58392928
GRCh38:
Chr2:58165793
FANCLD208N, D213N, D223NFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Oct 11, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:58456962
GRCh38:
Chr2:58229827
FANCLR68PFanconi anemia, Fanconi anemia complementation group L, not specified
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr2:58459202
GRCh38:
Chr2:58232067
FANCLL48VFanconi anemia complementation group L, Fanconi anemiaUncertain significance
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr2:58459236
GRCh38:
Chr2:58232101
FANCLF36LFanconi anemia, not specified, Fanconi anemia complementation group L
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:58425735
GRCh38:
Chr2:58198600
FANCLnot specified, Fanconi anemia complementation group L, not provided,
Fanconi anemia
Conflicting interpretations of pathogenicity
(Sep 4, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:58387320
GRCh38:
Chr2:58160185
FANCLFanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group L,
not specified
Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:58453856
GRCh38:
Chr2:58226721
FANCLFanconi anemia, Fanconi anemia complementation group LConflicting interpretations of pathogenicity
(Mar 22, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr2:58390168
GRCh38:
Chr2:58163033
FANCLnot specified, Fanconi anemia, Fanconi anemia complementation group L
Benign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr2:58453898
GRCh38:
Chr2:58226763
FANCLL80Vnot specified, Fanconi anemia, Fanconi anemia complementation group L,
See cases
Uncertain significance
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr2:58449163
GRCh38:
Chr2:58222028
FANCLK96NFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr2:58388728
GRCh38:
Chr2:58161593
FANCLG322S, G317S, G332SFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Mar 22, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr2:58468492
GRCh38:
Chr2:58241357
FANCLFanconi anemia complementation group LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr2:58468488
GRCh38:
Chr2:58241353
FANCLFanconi anemia complementation group LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr2:58468487
GRCh38:
Chr2:58241352
FANCLFanconi anemia complementation group LUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr2:58468461
GRCh38:
Chr2:58241326
FANCLFanconi anemia complementation group LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr2:58388744-58388745
GRCh38:
Chr2:58161609-58161610
FANCLY316*, Y311*, Y326*Fanconi anemia complementation group LUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr2:58388708
GRCh38:
Chr2:58161573
FANCLnot provided, Fanconi anemia, Fanconi anemia complementation group L
Conflicting interpretations of pathogenicity
(Feb 25, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr2:58386735
GRCh38:
Chr2:58159600
FANCL, VRK2Fanconi anemia complementation group LUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr2:58386604
GRCh38:
Chr2:58159469
VRK2, FANCLD412N, D435N, D317NFanconi anemia complementation group LUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr2:58386567
GRCh38:
Chr2:58159432
VRK2, FANCLFanconi anemia complementation group LLikely benign
(Jan 12, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr2:58388696
GRCh38:
Chr2:58161561
FANCLnot specified, not provided, Fanconi anemia,
Fanconi anemia complementation group L
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:58453930
GRCh38:
Chr2:58226795
FANCLnot specified, not provided, Fanconi anemia complementation group L
Benign
(Jan 10, 2019)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr2:58468487
GRCh38:
Chr2:58241352
FANCLnot provided, not specified, Fanconi anemia complementation group L
Benign/Likely benign
(Mar 24, 2019)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr2:58392880
GRCh38:
Chr2:58165745
FANCLT224A, T229A, T239Anot specified, not provided, Fanconi anemia,
Fanconi anemia complementation group L
Benign/Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr2:58468445
GRCh38:
Chr2:58241310
FANCLA2SFanconi anemia, Fanconi anemia complementation group LUncertain significance
(Mar 24, 2022)
criteria provided, multiple submitters, no conflicts
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