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Items: 1 to 100 of 137

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Jul 1, 2003)
no assertion criteria provided
2.
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Jun 1, 2004)
no assertion criteria provided
3.
GRCh37:
Chr22:26847437
GRCh38:
Chr22:26451471
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr22:26847447
GRCh38:
Chr22:26451481
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr22:26847512
GRCh38:
Chr22:26451546
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr22:26847586
GRCh38:
Chr22:26451620
HPS4Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr22:26847605
GRCh38:
Chr22:26451639
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr22:26847610
GRCh38:
Chr22:26451644
HPS4Hermansky-Pudlak syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr22:26847623
GRCh38:
Chr22:26451657
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr22:26847840
GRCh38:
Chr22:26451874
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr22:26847943
GRCh38:
Chr22:26451977
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr22:26847946
GRCh38:
Chr22:26451980
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr22:26847949
GRCh38:
Chr22:26451983
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr22:26847953-26847960
GRCh38:
Chr22:26451987-26451994
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr22:26847953-26847962
GRCh38:
Chr22:26451987-26451996
HPS4Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr22:26847953-26847958
GRCh38:
Chr22:26451987-26451992
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr22:26847953-26847956
GRCh38:
Chr22:26451987-26451990
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr22:26847953-26847954
GRCh38:
Chr22:26451987-26451988
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr22:26847961-26847976
GRCh38:
Chr22:26451995-26452010
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr22:26847962-26847963
GRCh38:
Chr22:26451996-26451997
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr22:26847962
GRCh38:
Chr22:26451996
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr22:26847962-26847970
GRCh38:
Chr22:26451996-26452004
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr22:26847962-26847970
GRCh38:
Chr22:26451996-26452004
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr22:26847963-26847972
GRCh38:
Chr22:26451997-26452006
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr22:26847968
GRCh38:
Chr22:26452002
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr22:26847970
GRCh38:
Chr22:26452004
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr22:26847971-26847976
GRCh38:
Chr22:26452005-26452010
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr22:26847971-26847974
GRCh38:
Chr22:26452005-26452008
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr22:26847971-26847972
GRCh38:
Chr22:26452005-26452006
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr22:26847972
GRCh38:
Chr22:26452006
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr22:26847972-26847992
GRCh38:
Chr22:26452006-26452026
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr22:26847972-26847992
GRCh38:
Chr22:26452006-26452026
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr22:26847974
GRCh38:
Chr22:26452008
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr22:26848079
GRCh38:
Chr22:26452113
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr22:26848171-26848175
GRCh38:
Chr22:26452205-26452209
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr22:26848448
GRCh38:
Chr22:26452482
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr22:26848684
GRCh38:
Chr22:26452718
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr22:26848808
GRCh38:
Chr22:26452842
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr22:26848830
GRCh38:
Chr22:26452864
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr22:26849002
GRCh38:
Chr22:26453036
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr22:26849194
GRCh38:
Chr22:26453228
HPS4not specifiedUncertain significance
(May 5, 2015)
criteria provided, single submitter
42.
GRCh37:
Chr22:26849233-26849237
GRCh38:
Chr22:26453267-26453271
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Oct 11, 2012)
no assertion criteria provided
43.
GRCh37:
Chr22:26849247
GRCh38:
Chr22:26453281
HPS4Hermansky-Pudlak syndrome, not specifiedLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr22:26849326
GRCh38:
Chr22:26453360
HPS4not specifiedUncertain significance
(Apr 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr22:26849364
GRCh38:
Chr22:26453398
HPS4not specifiedBenigncriteria provided, single submitter
46.
GRCh37:
Chr22:26849367
GRCh38:
Chr22:26453401
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr22:26849402
GRCh38:
Chr22:26453436
HPS4not specifiedLikely benigncriteria provided, single submitter
48.
GRCh37:
Chr22:26853881
GRCh38:
Chr22:26457915
HPS4Hermansky-Pudlak syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr22:26853889
GRCh38:
Chr22:26457923
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Oct 11, 2012)
no assertion criteria provided
50.
GRCh37:
Chr22:26853897
GRCh38:
Chr22:26457931
HPS4not specifiedBenign/Likely benign
(Apr 14, 2016)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr22:26853905
GRCh38:
Chr22:26457939
HPS4Hermansky-Pudlak syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr22:26853914
GRCh38:
Chr22:26457948
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Oct 11, 2012)
no assertion criteria provided
53.
GRCh37:
Chr22:26853923
GRCh38:
Chr22:26457957
HPS4Hermansky-Pudlak syndrome, not specifiedUncertain significance
(Aug 2, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr22:26853980
GRCh38:
Chr22:26458014
HPS4not specifiedBenigncriteria provided, single submitter
55.
GRCh37:
Chr22:26854441
GRCh38:
Chr22:26458475
HPS4Hermansky-Pudlak syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr22:26854510
GRCh38:
Chr22:26458544
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr22:26854542
GRCh38:
Chr22:26458576
HPS4not specifiedUncertain significance
(Jun 15, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr22:26859896
GRCh38:
Chr22:26463930
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr22:26859904
GRCh38:
Chr22:26463938
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr22:26859916
GRCh38:
Chr22:26463950
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr22:26859942
GRCh38:
Chr22:26463976
HPS4Hermansky-Pudlak syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr22:26859955
GRCh38:
Chr22:26463989
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr22:26860053
GRCh38:
Chr22:26464087
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr22:26860061
GRCh38:
Chr22:26464095
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr22:26860117
GRCh38:
Chr22:26464151
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr22:26860269
GRCh38:
Chr22:26464303
HPS4Hermansky-Pudlak syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr22:26860364
GRCh38:
Chr22:26464398
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr22:26860374
GRCh38:
Chr22:26464408
HPS4not specifiedUncertain significance
(Jun 15, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr22:26860404
GRCh38:
Chr22:26464438
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr22:26860464
GRCh38:
Chr22:26464498
HPS4Hermansky-Pudlak syndromeLikely pathogenic
(Mar 11, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr22:26860535-26860536
GRCh38:
Chr22:26464569-26464570
HPS4not specifiedBenigncriteria provided, single submitter
72.
GRCh37:
Chr22:26860535
GRCh38:
Chr22:26464569
HPS4Hermansky-Pudlak syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr22:26860536
GRCh38:
Chr22:26464570
HPS4Hermansky-Pudlak syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr22:26860624-26860647
GRCh38:
Chr22:26464658-26464681
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Oct 11, 2012)
no assertion criteria provided
75.
GRCh37:
Chr22:26860638
GRCh38:
Chr22:26464672
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr22:26860662
GRCh38:
Chr22:26464696
HPS4not specifiedUncertain significance
(Dec 22, 2015)
criteria provided, single submitter
77.
GRCh37:
Chr22:26860665
GRCh38:
Chr22:26464699
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr22:26860674
GRCh38:
Chr22:26464708
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr22:26860708
GRCh38:
Chr22:26464742
HPS4not specifiedLikely benign
(Jun 8, 2015)
criteria provided, single submitter
80.
GRCh37:
Chr22:26860719
GRCh38:
Chr22:26464753
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr22:26861459
GRCh38:
Chr22:26465493
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr22:26861473
GRCh38:
Chr22:26465507
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr22:26861514
GRCh38:
Chr22:26465548
HPS4Hermansky-Pudlak syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr22:26861545
GRCh38:
Chr22:26465579
HPS4not specifiedBenigncriteria provided, single submitter
85.
GRCh37:
Chr22:26862153
GRCh38:
Chr22:26466187
HPS4not specifiedBenigncriteria provided, single submitter
86.
GRCh37:
Chr22:26862177
GRCh38:
Chr22:26466211
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr22:26862202
GRCh38:
Chr22:26466236
HPS4Hermansky-Pudlak syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr22:26862211
GRCh38:
Chr22:26466245
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr22:26862212
GRCh38:
Chr22:26466246
HPS4Hermansky-Pudlak syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr22:26864522
GRCh38:
Chr22:26468556
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Oct 11, 2012)
no assertion criteria provided
91.
GRCh37:
Chr22:26864537
GRCh38:
Chr22:26468571
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Oct 11, 2012)
no assertion criteria provided
92.
GRCh37:
Chr22:26864569
GRCh38:
Chr22:26468603
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr22:26864578
GRCh38:
Chr22:26468612
HPS4Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr22:26866723
GRCh38:
Chr22:26470757
HPS4Hermansky-Pudlak syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr22:26866724
GRCh38:
Chr22:26470758
HPS4not specifiedUncertain significance
(Jun 15, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr22:26866740
GRCh38:
Chr22:26470774
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Oct 11, 2012)
no assertion criteria provided
97.
GRCh37:
Chr22:26868308
GRCh38:
Chr22:26472342
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Oct 11, 2012)
no assertion criteria provided
98.
GRCh37:
Chr22:26868357
GRCh38:
Chr22:26472391
HPS4Hermansky-Pudlak syndrome 4Pathogenic
(Oct 11, 2012)
no assertion criteria provided
99.
GRCh37:
Chr22:26868809
GRCh38:
Chr22:26472843
HPS4Hermansky-Pudlak syndrome, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr22:26872985
GRCh38:
Chr22:26477019
HPS4Hermansky-Pudlak syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
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