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Items: 1 to 100 of 434

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:20101020-34485543
GRCh38:
Chr11:20079474-34463996
ABTB2, ANO3, ANO3-AS1, ANO5, ARL14EP, ARL14EP-DT, BBOX1, BBOX1-AS1, BDNF, BDNF-AS, C11orf91, CAPRIN1, CAT, CCDC179, CCDC34, CCDC73, CD59, CSTF3, CSTF3-DT, DBX1, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FBXO3, FBXO3-DT, FIBIN, FSHB, GAS2, HIPK3, HTATIP2, IMMP1L, KCNA4, KIAA1549L, KIF18A, LGR4, LGR4-AS1, LIN7C, LINC00294, LINC00678, LINC01495, LINC01616, LINC02546, LINC02686, LINC02699, LINC02718, LINC02721, LINC02722, LINC02726, LINC02742, LINC02755, LINC02758, LINC02859, LINC03031, LMO2, LOC101928385, LOC105980003, LOC105980005, LOC105980073, LOC106007485, LOC106007493, LOC106014249, LOC106707172, LOC106707173, LOC107982234, LOC108178983, LOC108178984, LOC110120941, LOC110121388, LOC110121452, LOC111365162, LOC112067717, LOC112067718, LOC113939921, LOC116216130, LOC116216131, LOC116216132, LOC116216133, LOC121832789, LOC124421507, LOC124421508, LOC124421509, LOC124421510, LOC124421511, LOC124421512, LOC124421513, LOC124421514, LOC124421515, LOC124421516, LOC124421517, LOC124433243, LOC126861159, LOC126861160, LOC126861161, LOC126861162, LOC126861163, LOC126861164, LOC126861165, LOC126861166, LOC126861167, LOC126861168, LOC126861169, LOC126861170, LOC126861171, LOC126861172, LOC126861173, LOC126861174, LOC126861175, LOC126861176, LOC126861177, LOC126861178, LOC126861179, LOC126861180, LOC129390271, LOC129390272, LOC129390273, LOC129390274, LOC129390275, LOC129390276, LOC129390277, LOC129390278, LOC129390279, LOC130005435, LOC130005436, LOC130005437, LOC130005438, LOC130005439, LOC130005440, LOC130005441, LOC130005442, LOC130005443, LOC130005444, LOC130005445, LOC130005446, LOC130005447, LOC130005448, LOC130005449, LOC130005450, LOC130005451, LOC130005452, LOC130005453, LOC130005454, LOC130005455, LOC130005456, LOC130005457, LOC130005458, LOC130005459, LOC130005460, LOC130005461, LOC130005462, LOC130005463, LOC130005464, LOC130005465, LOC130005466, LOC130005467, LOC130005468, LOC130005469, LOC130005470, LOC130005471, LOC130005472, LOC130005473, LOC130005474, LOC130005475, LOC130005476, LOC130005477, LOC130005478, LOC130005479, LOC130005480, LOC130005481, LOC130005482, LOC130005483, LOC130005484, LOC130005485, LOC130005486, LOC130005487, LOC130005488, LOC130005489, LOC130005490, LOC130005491, LOC130005492, LOC130005493, LOC130005494, LOC130005495, LOC130005496, LOC130005497, LOC130005498, LOC130005499, LOC130005500, LOC130005501, LOC130005502, LOC130005503, LOC130005504, LOC130005505, LOC130005506, LOC130005507, LOC130005508, LOC130005509, LOC130005510, LOC130005511, LOC130005512, LOC130005513, LOC130005514, LOC130005515, LOC130005516, LOC130005517, LOC130005518, LOC130005519, LOC130005520, LOC130005521, LOC130005522, LOC130005523, LOC130005524, LOC130005525, LOC130005526, LOC130005527, LOC130005528, LOC130005529, LOC130005530, LOC130005531, LOC130005532, LOC130005533, LOC130005534, LOC130005535, LOC130005536, LOC130005537, LOC130005538, LOC130005539, LOC130005540, LOC130005541, LOC130005542, LOC130005543, LOC132089910, LOC132089911, LOC132089912, LOC132089913, LOC132089914, LOC132089915, LOC132089916, LOC132089917, LOC132089918, LOC132089919, LOC132089920, LOC132089921, LOC132089922, LOC132089923, LOC132089924, LOC132089925, LOC132089926, LOC132089928, LOC132089929, LOC132090835, LUZP2, METTL15, MIR610, MIR8054, MIR8068, MIR8087, MPPED2, MPPED2-AS1, MUC15, NAT10, NAV2, NELL1, PAUPAR, PAX6, PAX6-AS1, PAX6DRR, PAX6_HS2, PAX6_HS3, PAX6_HS8, PRMT3, PRRG4, QSER1, RCN1, SLC17A6, SLC17A6-DT, SLC5A12, SLC6A5, SNORA88, SVIP, TCP11L1, WT1, WT1-AS
See casesPathogenic
(Aug 30, 2010)
no assertion criteria provided
2.
GRCh37:
Chr11:21859560-26760174
GRCh38:
Chr11:21838014-26738627
See casesUncertain significance
(Oct 10, 2011)
no assertion criteria provided
3.
GRCh37:
Chr11:22137148-25397242
GRCh38:
Chr11:22115602-25375696
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr11:22217295-22974982
GRCh38:
Chr11:22195749-22953436
See casesUncertain significance
(Jan 9, 2013)
no assertion criteria provided
5.
GRCh37:
Chr11:22241544-22709446
GRCh38:
Chr11:22219999-22687901
not providedUncertain significance
(Feb 1, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr11:22571661-38220709
GRCh38:
Chr11:22550115-38199159
PAX6_HS3, PAX6_HS8, PDHX, PRR5L, PRRG4, QSER1, RAG1, RAG2, RCN1, SLC1A2, SLC1A2-AS2, SLC5A12, SNORA88, SNORD164, SVIP, TCP11L1, TRAF6, TRIM44, WT1, WT1-AS, ABTB2, ANO3, ANO3-AS1, APIP, ARL14EP, ARL14EP-DT, BBOX1, BBOX1-AS1, BDNF, BDNF-AS, C11orf91, CAPRIN1, CAT, CCDC179, CCDC34, CCDC73, CD44, CD44-AS1, CD44-DT, CD59, COMMD9, CSTF3, CSTF3-DT, DCDC1, DEPDC7, DNAJC24, EHF, EIF3M, ELF5, ELP4, FANCF, FBXO3, FBXO3-DT, FIBIN, FJX1, FSHB, GAS2, HIPK3, IFTAP, IMMP1L, KCNA4, KIAA1549L, KIF18A, LDLRAD3, LGR4, LGR4-AS1, LIN7C, LINC00294, LINC00678, LINC01616, LINC02546, LINC02686, LINC02699, LINC02707, LINC02718, LINC02721, LINC02722, LINC02726, LINC02742, LINC02755, LINC02758, LINC02760, LINC02859, LINC03031, LMO2, LOC101928385, LOC101928510, LOC105980003, LOC105980005, LOC105980073, LOC106007485, LOC106007493, LOC106014249, LOC106707172, LOC106707173, LOC107982234, LOC108178983, LOC108178984, LOC110120941, LOC110121388, LOC110121452, LOC112067717, LOC112067718, LOC112081392, LOC112081393, LOC113939921, LOC116216130, LOC116216131, LOC116216132, LOC116216133, LOC116216134, LOC121392907, LOC121392908, LOC121832789, LOC121832790, LOC124421508, LOC124421509, LOC124421510, LOC124421511, LOC124421512, LOC124421513, LOC124421514, LOC124421515, LOC124421516, LOC124421517, LOC124433243, LOC124433244, LOC124433245, LOC124433246, LOC124433247, LOC126861162, LOC126861163, LOC126861164, LOC126861165, LOC126861166, LOC126861167, LOC126861168, LOC126861169, LOC126861170, LOC126861171, LOC126861172, LOC126861173, LOC126861174, LOC126861175, LOC126861176, LOC126861177, LOC126861178, LOC126861179, LOC126861180, LOC126861181, LOC126861182, LOC126861183, LOC126861184, LOC126861185, LOC126861186, LOC126861187, LOC126861188, LOC126861189, LOC126861190, LOC126861191, LOC126861192, LOC126861193, LOC129390271, LOC129390272, LOC129390273, LOC129390274, LOC129390275, LOC129390276, LOC129390277, LOC129390278, LOC129390279, LOC130005443, LOC130005444, LOC130005445, LOC130005446, LOC130005447, LOC130005448, LOC130005449, LOC130005450, LOC130005451, LOC130005452, LOC130005453, LOC130005454, LOC130005455, LOC130005456, LOC130005457, LOC130005458, LOC130005459, LOC130005460, LOC130005461, LOC130005462, LOC130005463, LOC130005464, LOC130005465, LOC130005466, LOC130005467, LOC130005468, LOC130005469, LOC130005470, LOC130005471, LOC130005472, LOC130005473, LOC130005474, LOC130005475, LOC130005476, LOC130005477, LOC130005478, LOC130005479, LOC130005480, LOC130005481, LOC130005482, LOC130005483, LOC130005484, LOC130005485, LOC130005486, LOC130005487, LOC130005488, LOC130005489, LOC130005490, LOC130005491, LOC130005492, LOC130005493, LOC130005494, LOC130005495, LOC130005496, LOC130005497, LOC130005498, LOC130005499, LOC130005500, LOC130005501, LOC130005502, LOC130005503, LOC130005504, LOC130005505, LOC130005506, LOC130005507, LOC130005508, LOC130005509, LOC130005510, LOC130005511, LOC130005512, LOC130005513, LOC130005514, LOC130005515, LOC130005516, LOC130005517, LOC130005518, LOC130005519, LOC130005520, LOC130005521, LOC130005522, LOC130005523, LOC130005524, LOC130005525, LOC130005526, LOC130005527, LOC130005528, LOC130005529, LOC130005530, LOC130005531, LOC130005532, LOC130005533, LOC130005534, LOC130005535, LOC130005536, LOC130005537, LOC130005538, LOC130005539, LOC130005540, LOC130005541, LOC130005542, LOC130005543, LOC130005544, LOC130005545, LOC130005546, LOC130005547, LOC130005548, LOC130005549, LOC130005550, LOC130005551, LOC130005552, LOC130005553, LOC130005554, LOC130005555, LOC130005556, LOC130005557, LOC130005558, LOC130005559, LOC130005560, LOC130005561, LOC130005562, LOC130005563, LOC130005564, LOC130005565, LOC130005566, LOC130005567, LOC130005568, LOC130005569, LOC130005570, LOC130005571, LOC130005572, LOC130005573, LOC130005574, LOC130005575, LOC130005576, LOC130005577, LOC130005578, LOC130005579, LOC130005580, LOC130005581, LOC132089926, LOC132089928, LOC132089929, LOC132089932, LOC132089933, LOC132089934, LOC132089935, LOC132089936, LUZP2, METTL15, MIR1343, MIR3973, MIR610, MIR8054, MIR8068, MIR8087, MPPED2, MPPED2-AS1, MUC15, NAT10, PAMR1, PAUPAR, PAX6, PAX6-AS1, PAX6DRR, PAX6_HS2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr11:22644079-22647387
GRCh38:
Chr11:22622533-22625841
FANCF, LOC130005443, LOC130005444Fanconi anemiaUncertain significance
(May 4, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr11:22644109
GRCh38:
Chr11:22622563
FANCFFanconi anemia complementation group FBenign
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr11:22644158
GRCh38:
Chr11:22622612
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr11:22644161
GRCh38:
Chr11:22622615
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr11:22644348
GRCh38:
Chr11:22622802
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr11:22644353
GRCh38:
Chr11:22622807
FANCFnot specified, Fanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr11:22644536
GRCh38:
Chr11:22622990
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr11:22644600
GRCh38:
Chr11:22623054
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr11:22644602
GRCh38:
Chr11:22623056
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr11:22644603
GRCh38:
Chr11:22623057
FANCFFanconi anemia complementation group FBenign
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr11:22644697
GRCh38:
Chr11:22623151
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr11:22644707
GRCh38:
Chr11:22623161
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr11:22644720
GRCh38:
Chr11:22623174
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr11:22644723
GRCh38:
Chr11:22623177
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr11:22644748
GRCh38:
Chr11:22623202
FANCFFanconi anemia complementation group FLikely benign
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr11:22644792
GRCh38:
Chr11:22623246
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr11:22644812
GRCh38:
Chr11:22623266
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr11:22644893-22644894
GRCh38:
Chr11:22623347-22623348
FANCFFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr11:22645042
GRCh38:
Chr11:22623496
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr11:22645113
GRCh38:
Chr11:22623567
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr11:22645138
GRCh38:
Chr11:22623592
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr11:22645375
GRCh38:
Chr11:22623829
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr11:22645413
GRCh38:
Chr11:22623867
FANCFFanconi anemia complementation group FBenign
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr11:22645450
GRCh38:
Chr11:22623904
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr11:22645494
GRCh38:
Chr11:22623948
FANCFFanconi anemia complementation group FBenign
(Apr 27, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr11:22645523
GRCh38:
Chr11:22623977
FANCFFanconi anemia complementation group FLikely benign
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr11:22645524
GRCh38:
Chr11:22623978
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr11:22645536-22645537
GRCh38:
Chr11:22623990-22623991
FANCFFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr11:22645573-22645577
GRCh38:
Chr11:22624027-22624031
FANCFFanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr11:22645600
GRCh38:
Chr11:22624054
FANCFFanconi anemia complementation group FBenign
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr11:22645608
GRCh38:
Chr11:22624062
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr11:22645635
GRCh38:
Chr11:22624089
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr11:22645667
GRCh38:
Chr11:22624121
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr11:22645677
GRCh38:
Chr11:22624131
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr11:22645693
GRCh38:
Chr11:22624147
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr11:22645733
GRCh38:
Chr11:22624187
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr11:22645771
GRCh38:
Chr11:22624225
FANCFFanconi anemia complementation group FBenign
(Apr 28, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr11:22645820
GRCh38:
Chr11:22624274
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr11:22645896
GRCh38:
Chr11:22624350
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr11:22645904
GRCh38:
Chr11:22624358
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr11:22645913
GRCh38:
Chr11:22624367
FANCFFanconi anemia complementation group FBenign
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr11:22645945
GRCh38:
Chr11:22624399
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr11:22645946
GRCh38:
Chr11:22624400
FANCFFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr11:22646025
GRCh38:
Chr11:22624479
FANCFFanconi anemia complementation group F, not providedBenign
(Jan 10, 2019)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr11:22646046
GRCh38:
Chr11:22624500
FANCFnot providedLikely benign
(Mar 20, 2019)
criteria provided, single submitter
52.
GRCh37:
Chr11:22646126
GRCh38:
Chr11:22624580
FANCFFanconi anemia complementation group FBenign
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr11:22646225
GRCh38:
Chr11:22624679
FANCFFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr11:22646234
GRCh38:
Chr11:22624688
FANCFFanconi anemiaUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:22646243
GRCh38:
Chr11:22624697
FANCFS372GFanconi anemiaUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:22646268
GRCh38:
Chr11:22624722
FANCF, LOC130005443Q363HFanconi anemiaUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
57.
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
58.
GRCh37:
Chr11:22646275
GRCh38:
Chr11:22624729
FANCF, LOC130005443K361RFanconi anemiaUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr11:22646279
GRCh38:
Chr11:22624733
FANCF, LOC130005443R360GFanconi anemiaUncertain significance
(May 25, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:22646293
GRCh38:
Chr11:22624747
FANCF, LOC130005443R355HFanconi anemia complementation group FUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr11:22646294
GRCh38:
Chr11:22624748
FANCF, LOC130005443R355CFanconi anemia complementation group FUncertain significance
(Dec 2, 2021)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr11:22646297
GRCh38:
Chr11:22624751
FANCF, LOC130005443L354FFanconi anemiaUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr11:22646301
GRCh38:
Chr11:22624755
FANCF, LOC130005443L352FFanconi anemiaUncertain significance
(Dec 16, 2021)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr11:22646303
GRCh38:
Chr11:22624757
FANCF, LOC130005443Fanconi anemiaLikely benign
(Sep 27, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:22646309
GRCh38:
Chr11:22624763
FANCF, LOC130005443L350IFanconi anemiaUncertain significance
(Jan 17, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:22646309
GRCh38:
Chr11:22624763
FANCF, LOC130005443L350FInborn genetic diseases, Fanconi anemiaUncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:22646313
GRCh38:
Chr11:22624767
FANCF, LOC130005443Fanconi anemiaLikely benign
(Mar 2, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr11:22646316
GRCh38:
Chr11:22624770
FANCF, LOC130005443W347*Fanconi anemiaUncertain significance
(Nov 14, 2020)
criteria provided, single submitter
69.
GRCh37:
Chr11:22646316
GRCh38:
Chr11:22624770
FANCF, LOC130005443W347Cnot specifiednot provided
(Sep 19, 2013)
no assertion provided
70.
GRCh37:
Chr11:22646319
GRCh38:
Chr11:22624773
FANCF, LOC130005443Fanconi anemiaLikely benign
(Sep 16, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:22646322
GRCh38:
Chr11:22624776
FANCF, LOC130005443Fanconi anemiaLikely benign
(Jan 21, 2020)
criteria provided, single submitter
72.
GRCh37:
Chr11:22646331
GRCh38:
Chr11:22624785
FANCF, LOC130005443Fanconi anemiaLikely benign
(Jun 13, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:22646332
GRCh38:
Chr11:22624786
FANCF, LOC130005443P342LFanconi anemiaUncertain significance
(May 29, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:22646337
GRCh38:
Chr11:22624791
FANCF, LOC130005443Fanconi anemiaLikely benign
(Jan 14, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:22646345
GRCh38:
Chr11:22624799
LOC130005443, FANCFD338NFanconi anemiaUncertain significance
(Jan 25, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr11:22646346
GRCh38:
Chr11:22624800
FANCF, LOC130005443not providedLikely benign
(Jul 1, 2023)
criteria provided, single submitter
77.
GRCh37:
Chr11:22646350
GRCh38:
Chr11:22624804
FANCF, LOC130005443D336GFanconi anemiaUncertain significance
(Oct 5, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr11:22646351
GRCh38:
Chr11:22624805
FANCF, LOC130005443D336NFanconi anemia complementation group FUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr11:22646355
GRCh38:
Chr11:22624809
FANCF, LOC130005443Fanconi anemiaLikely benign
(Feb 20, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:22646356
GRCh38:
Chr11:22624810
FANCF, LOC130005443A334VFanconi anemiaUncertain significance
(Oct 14, 2021)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr11:22646363
GRCh38:
Chr11:22624817
FANCF, LOC130005443C332RFanconi anemiaUncertain significance
(Feb 2, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr11:22646364
GRCh38:
Chr11:22624818
FANCF, LOC130005443Fanconi anemiaLikely benign
(Aug 4, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr11:22646364
GRCh38:
Chr11:22624818
FANCF, LOC130005443Fanconi anemiaLikely benign
(May 21, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr11:22646365
GRCh38:
Chr11:22624819
LOC130005443, FANCFT331IFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Mar 15, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr11:22646370
GRCh38:
Chr11:22624824
FANCF, LOC130005443Fanconi anemiaLikely benign
(Dec 20, 2020)
criteria provided, single submitter
86.
GRCh37:
Chr11:22646371
GRCh38:
Chr11:22624825
FANCF, LOC130005443L329PFanconi anemiaUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr11:22646373
GRCh38:
Chr11:22624827
FANCF, LOC130005443Fanconi anemiaLikely benign
(May 27, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:22646387
GRCh38:
Chr11:22624841
FANCF, LOC130005443K324EFanconi anemia, Fanconi anemia complementation group FConflicting interpretations of pathogenicity
(Mar 10, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr11:22646398
GRCh38:
Chr11:22624852
FANCF, LOC130005443P320Lnot specified, not provided, Fanconi anemia,
Fanconi anemia complementation group F
Benign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr11:22646402
GRCh38:
Chr11:22624856
FANCF, LOC130005443P319Snot specifiednot provided
(Sep 19, 2013)
no assertion provided
91.
GRCh37:
Chr11:22646405
GRCh38:
Chr11:22624859
FANCF, LOC130005443P318AFanconi anemiaUncertain significance
(May 29, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:22646405
GRCh38:
Chr11:22624859
FANCF, LOC130005443P318SFanconi anemia complementation group F, Fanconi anemiaUncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr11:22646413-22646414
GRCh38:
Chr11:22624867-22624868
FANCF, LOC130005443C315fsFanconi anemiaUncertain significance
(Aug 18, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr11:22646417
GRCh38:
Chr11:22624871
FANCF, LOC130005443L314FFanconi anemiaUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
95.
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
96.
GRCh37:
Chr11:22646430
GRCh38:
Chr11:22624884
FANCF, LOC130005444Fanconi anemiaLikely benign
(Nov 26, 2020)
criteria provided, single submitter
97.
GRCh37:
Chr11:22646433
GRCh38:
Chr11:22624887
FANCF, LOC130005444Fanconi anemiaLikely benign
(Aug 15, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr11:22646434
GRCh38:
Chr11:22624888
FANCF, LOC130005444H308RFanconi anemiaUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr11:22646436
GRCh38:
Chr11:22624890
FANCF, LOC130005444L307FFanconi anemiaUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:22646446
GRCh38:
Chr11:22624900
FANCF, LOC130005444W304SFanconi anemia, Fanconi anemia complementation group FUncertain significance
(Mar 15, 2022)
criteria provided, multiple submitters, no conflicts
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