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Items: 1 to 100 of 992

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:73826454
GRCh38:
Chr17:75830373
LOC112533672, UNC13DL940fsFamilial hemophagocytic lymphohistiocytosis 3Likely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr17:73827722-73835910
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Pathogenic
(Mar 2, 2023)
no assertion criteria provided
3.
GRCh37:
Chr17:73824916
GRCh38:
Chr17:75828835
UNC13DG1035SFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(May 6, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr17:73832705
GRCh38:
Chr17:75836624
UNC13DV416IFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Nov 29, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr17:73838749
GRCh38:
Chr17:75842668
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Feb 3, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr17:73824046-73830244
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Mar 13, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr17:73831507
GRCh38:
Chr17:75835426
UNC13DA611TFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jul 2, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr17:73832473
GRCh38:
Chr17:75836392
UNC13DE446KFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr17:73825000
GRCh38:
Chr17:75828919
UNC13DD1007NFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jun 3, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr17:73826471
GRCh38:
Chr17:75830390
UNC13D, LOC112533672Familial hemophagocytic lymphohistiocytosis 3Likely benign
(Sep 20, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr17:73838530
GRCh38:
Chr17:75842449
UNC13DD185NFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Dec 20, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr17:73832752
GRCh38:
Chr17:75836671
UNC13DS400NFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jun 9, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr17:73835923
GRCh38:
Chr17:75839842
UNC13DM351TFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jul 17, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr17:73829102
GRCh38:
Chr17:75833021
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Jul 21, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr17:73839548
GRCh38:
Chr17:75843467
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Aug 14, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr17:73835967
GRCh38:
Chr17:75839886
UNC13DF336LFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Sep 13, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr17:73826642
GRCh38:
Chr17:75830561
LOC112533672, UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Jul 23, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr17:73832313
GRCh38:
Chr17:75836232
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Mar 8, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr17:73831846
GRCh38:
Chr17:75835765
UNC13DV537MFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jul 19, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr17:73840388
GRCh38:
Chr17:75844307
UNC13DR11CFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jun 12, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr17:73829045
GRCh38:
Chr17:75832964
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely pathogenic
(Oct 12, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr17:73831818
GRCh38:
Chr17:75835737
UNC13DD546GInborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 3Conflicting interpretations of pathogenicity
(Dec 28, 2022)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr17:73840328
GRCh38:
Chr17:75844247
UNC13DD31NFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Aug 19, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr17:73826639
GRCh38:
Chr17:75830558
LOC112533672, UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Feb 25, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr17:73829141
GRCh38:
Chr17:75833060
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Oct 14, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr17:73837084
GRCh38:
Chr17:75841003
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely pathogenic
(Jun 20, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr17:73836838
GRCh38:
Chr17:75840757
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr17:73835951
GRCh38:
Chr17:75839870
UNC13DK342EFamilial hemophagocytic lymphohistiocytosis 3, UNC13D-related conditionUncertain significance
(Sep 11, 2023)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:73832000
GRCh38:
Chr17:75835919
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Aug 22, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr17:73836842
GRCh38:
Chr17:75840761
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely pathogenic
(Apr 16, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr17:73839146
GRCh38:
Chr17:75843065
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Aug 21, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr17:73840302
GRCh38:
Chr17:75844221
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Mar 1, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr17:73830514
GRCh38:
Chr17:75834433
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Mar 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr17:73839021
GRCh38:
Chr17:75842940
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Jul 3, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr17:73826246
GRCh38:
Chr17:75830165
LOC112533672, UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Sep 10, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr17:73824065
GRCh38:
Chr17:75827984
UNC13DA1085DFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Mar 24, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr17:73836660
GRCh38:
Chr17:75840579
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Mar 20, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr17:73832476
GRCh38:
Chr17:75836395
UNC13DG445RFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Apr 21, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr17:73840351
GRCh38:
Chr17:75844270
UNC13DR23LFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Feb 19, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr17:73830439-73830440
GRCh38:
Chr17:75834358-75834359
UNC13DE755fsFamilial hemophagocytic lymphohistiocytosis 3Pathogenic
(Aug 16, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr17:73830437
GRCh38:
Chr17:75834356
UNC13DI756fsFamilial hemophagocytic lymphohistiocytosis 3Pathogenic
(Aug 16, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr17:73827260
GRCh38:
Chr17:75831179
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Apr 18, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr17:73832456
GRCh38:
Chr17:75836375
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(May 7, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr17:73827268
GRCh38:
Chr17:75831187
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Jul 30, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr17:73839139
GRCh38:
Chr17:75843058
UNC13DP93TFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jul 8, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr17:73826642
GRCh38:
Chr17:75830561
LOC112533672, UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Sep 7, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr17:73825006
GRCh38:
Chr17:75828925
UNC13DD1005NFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jul 21, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr17:73832519
GRCh38:
Chr17:75836438
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Mar 18, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr17:73832918
GRCh38:
Chr17:75836837
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Jul 18, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr17:73835924
GRCh38:
Chr17:75839843
UNC13DM351VFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(May 20, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr17:73824870
GRCh38:
Chr17:75828789
UNC13DN1050SInborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jul 15, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr17:73838582
GRCh38:
Chr17:75842501
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Aug 31, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr17:73838523
GRCh38:
Chr17:75842442
UNC13DT187NFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Aug 5, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr17:73836403
GRCh38:
Chr17:75840322
UNC13DR254HFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Apr 4, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:73831510
GRCh38:
Chr17:75835429
UNC13DR610CFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr17:73824125
GRCh38:
Chr17:75828044
UNC13DR1065QFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jun 15, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr17:73832780
GRCh38:
Chr17:75836699
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jun 19, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr17:73832653
GRCh38:
Chr17:75836572
UNC13DR433KFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jun 22, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr17:73830215
GRCh38:
Chr17:75834134
UNC13DG770SFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Aug 29, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr17:73838921
GRCh38:
Chr17:75842840
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Aug 5, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr17:73825007
GRCh38:
Chr17:75828926
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Dec 7, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr17:73839358
GRCh38:
Chr17:75843277
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Jan 3, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr17:73826221
GRCh38:
Chr17:75830140
LOC112533672, UNC13DP948SFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Oct 5, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr17:73838642
GRCh38:
Chr17:75842561
UNC13DG149fsFamilial hemophagocytic lymphohistiocytosis 3Pathogenic
(Jul 2, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr17:73836899
GRCh38:
Chr17:75840818
UNC13DV210fsFamilial hemophagocytic lymphohistiocytosis 3Pathogenic
(Sep 12, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr17:73836407-73836408
GRCh38:
Chr17:75840326-75840327
UNC13DL253fsFamilial hemophagocytic lymphohistiocytosis 3Pathogenic
(Mar 28, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr17:73832421
GRCh38:
Chr17:75836340
UNC13DQ463PFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Sep 16, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:73830464
GRCh38:
Chr17:75834383
UNC13DS747NFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Aug 30, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:73839016
GRCh38:
Chr17:75842935
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(May 9, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr17:73830727
GRCh38:
Chr17:75834646
UNC13DQ688PFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr17:73824127
GRCh38:
Chr17:75828046
UNC13DD1064EFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(May 6, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr17:73839323
GRCh38:
Chr17:75843242
UNC13DL60FFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(May 19, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr17:73826664
GRCh38:
Chr17:75830583
LOC112533672, UNC13DQ902*Familial hemophagocytic lymphohistiocytosis 3Pathogenic
(May 12, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr17:73840308
GRCh38:
Chr17:75844227
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(May 2, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:73831012
GRCh38:
Chr17:75834931
UNC13DK661QFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(May 27, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr17:73838592
GRCh38:
Chr17:75842511
UNC13DT164IFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Apr 21, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr17:73837075
GRCh38:
Chr17:75840994
UNC13DE193KFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Apr 8, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:73836911
GRCh38:
Chr17:75840830
UNC13DW205CFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Apr 7, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr17:73829081
GRCh38:
Chr17:75833000
UNC13DM805VFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Apr 6, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr17:73832348
GRCh38:
Chr17:75836267
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Apr 2, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:73832668
GRCh38:
Chr17:75836587
UNC13DL428RFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Mar 28, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr17:73829056
GRCh38:
Chr17:75832975
UNC13DN813IFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Mar 24, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr17:73839128
GRCh38:
Chr17:75843047
UNC13DH96QFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Mar 23, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr17:73836144
GRCh38:
Chr17:75840063
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Mar 19, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr17:73827355
GRCh38:
Chr17:75831274
UNC13DL841PFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr17:73839120
GRCh38:
Chr17:75843039
UNC13DT99IFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(May 18, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr17:73830543
GRCh38:
Chr17:75834462
UNC13DW721RFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Mar 14, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr17:73832267
GRCh38:
Chr17:75836186
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Sep 27, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr17:73830596
GRCh38:
Chr17:75834515
UNC13DN703SFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Mar 4, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr17:73838926
GRCh38:
Chr17:75842845
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Mar 1, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr17:73831034-73831040
GRCh38:
Chr17:75834953-75834959
UNC13DD651fsFamilial hemophagocytic lymphohistiocytosis 3Pathogenic
(Feb 25, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr17:73839093
GRCh38:
Chr17:75843012
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely pathogenic
(Mar 1, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr17:73829144-73829145
GRCh38:
Chr17:75833063-75833064
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Feb 23, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:73827227
GRCh38:
Chr17:75831146
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Feb 19, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr17:73831787
GRCh38:
Chr17:75835706
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Feb 12, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr17:73831875
GRCh38:
Chr17:75835794
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Sep 19, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr17:73832686
GRCh38:
Chr17:75836605
UNC13DS422LFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jul 30, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:73838579
GRCh38:
Chr17:75842498
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Likely benign
(Feb 15, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr17:73840283
GRCh38:
Chr17:75844202
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(May 6, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:73836895
GRCh38:
Chr17:75840814
UNC13DE211KFamilial hemophagocytic lymphohistiocytosis 3Uncertain significance
(Jul 12, 2022)
criteria provided, single submitter
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