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Links from MedGen

Items: 1 to 100 of 108

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:45879642-45898712
BLOC1S6Hermansky-Pudlak syndrome 9Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr15:45879724
GRCh38:
Chr15:45587526
BLOC1S6Hermansky-Pudlak syndrome 9Likely pathogenic
(Sep 14, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr15:45884421
GRCh38:
Chr15:45592223
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Apr 21, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr15:45898576
GRCh38:
Chr15:45606378
BLOC1S6Hermansky-Pudlak syndrome 9Benign
(Aug 30, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr15:45884407
GRCh38:
Chr15:45592209
BLOC1S6A53T, A58THermansky-Pudlak syndrome 9Uncertain significance
(Jul 5, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr15:45879727
GRCh38:
Chr15:45587529
BLOC1S6Hermansky-Pudlak syndrome 9Uncertain significance
(Dec 15, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr15:45897695
GRCh38:
Chr15:45605497
BLOC1S6K128Q, K133QHermansky-Pudlak syndrome 9Uncertain significance
(Oct 3, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr15:45898576
GRCh38:
Chr15:45606378
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(May 6, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr15:45898661
GRCh38:
Chr15:45606463
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Oct 19, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr15:45879692
GRCh38:
Chr15:45587494
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(May 4, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr15:45898580
GRCh38:
Chr15:45606382
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Aug 24, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr15:45884370
GRCh38:
Chr15:45592172
BLOC1S6Hermansky-Pudlak syndrome 9Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr15:45879707
GRCh38:
Chr15:45587509
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Apr 12, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr15:45898645
GRCh38:
Chr15:45606447
BLOC1S6E156V, E151VHermansky-Pudlak syndrome 9Uncertain significance
(Dec 28, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr15:45879740
GRCh38:
Chr15:45587542
BLOC1S6Hermansky-Pudlak syndrome 9Uncertain significance
(Jan 11, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr15:45879737
GRCh38:
Chr15:45587539
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Jun 9, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr15:45879723
GRCh38:
Chr15:45587525
BLOC1S6G28RHermansky-Pudlak syndrome 9Uncertain significance
(Jul 15, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr15:45879709
GRCh38:
Chr15:45587511
BLOC1S6G23EInborn genetic diseases, Hermansky-Pudlak syndrome 9Uncertain significance
(Jun 6, 2023)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr15:45879680
GRCh38:
Chr15:45587482
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Sep 15, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr15:45884339
GRCh38:
Chr15:45592141
BLOC1S6S30fs, S35fsHermansky-Pudlak syndrome 9Pathogenic
(Aug 23, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr15:45895279
GRCh38:
Chr15:45603081
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Jun 10, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr15:45895332-45895333
GRCh38:
Chr15:45603134-45603135
BLOC1S6E88fs, E93fsHermansky-Pudlak syndrome 9Pathogenic
(May 1, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr15:45895386
GRCh38:
Chr15:45603188
BLOC1S6Hermansky-Pudlak syndrome 9Likely pathogenic
(Dec 17, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr15:45897645
GRCh38:
Chr15:45605447
BLOC1S6I87V, Y111C, Y116CHermansky-Pudlak syndrome 9Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr15:45884338
GRCh38:
Chr15:45592140
BLOC1S6S30R, S35RHermansky-Pudlak syndrome 9Uncertain significance
(Jul 15, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr15:45898696
GRCh38:
Chr15:45606498
BLOC1S6P168L, P173LHermansky-Pudlak syndrome 9Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr15:45884359
GRCh38:
Chr15:45592161
BLOC1S6G37R, G42RHermansky-Pudlak syndrome 9Uncertain significance
(May 16, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr15:45884351
GRCh38:
Chr15:45592153
BLOC1S6P34R, P39RHermansky-Pudlak syndrome 9Uncertain significance
(Jul 23, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr15:45895285
GRCh38:
Chr15:45603087
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Jul 22, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr15:45895355
GRCh38:
Chr15:45603157
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Sep 16, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr15:45884485
GRCh38:
Chr15:45592287
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Jun 5, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr15:45898601
GRCh38:
Chr15:45606403
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Apr 2, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr15:45884424
GRCh38:
Chr15:45592226
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Jul 3, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr15:45884460
GRCh38:
Chr15:45592262
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Aug 31, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr15:45879677
GRCh38:
Chr15:45587479
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Oct 18, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr15:45884492
GRCh38:
Chr15:45592294
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(May 8, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr15:45879716
GRCh38:
Chr15:45587518
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Jan 14, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr15:45898585-45898586
GRCh38:
Chr15:45606387-45606388
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Mar 27, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr15:45897726
GRCh38:
Chr15:45605528
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Jul 16, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr15:45897700
GRCh38:
Chr15:45605502
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(May 4, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr15:45897663
GRCh38:
Chr15:45605465
BLOC1S6N122I, N117IHermansky-Pudlak syndrome 9Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr15:45879655
GRCh38:
Chr15:45587457
BLOC1S6G5VHermansky-Pudlak syndrome 9Uncertain significance
(Aug 12, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr15:45895362
GRCh38:
Chr15:45603164
BLOC1S6S97P, S102PHermansky-Pudlak syndrome 9Uncertain significance
(Dec 7, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr15:45897671
GRCh38:
Chr15:45605473
BLOC1S6K125Q, K120QHermansky-Pudlak syndrome 9Uncertain significance
(Nov 16, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr15:45898654
GRCh38:
Chr15:45606456
BLOC1S6R159Q, R154QInborn genetic diseases, Hermansky-Pudlak syndrome 9Uncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr15:45895284-45895285
GRCh38:
Chr15:45603086-45603087
BLOC1S6Hermansky-Pudlak syndrome 9Uncertain significance
(Jul 22, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr15:45897644-45897645
GRCh38:
Chr15:45605446-45605447
BLOC1S6Y111fs, I87fs, Y116fsHermansky-Pudlak syndrome 9, Hermansky-Pudlak syndromePathogenic/Likely pathogenic
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr15:45884392
GRCh38:
Chr15:45592194
BLOC1S6A48S, A53SHermansky-Pudlak syndrome 9Uncertain significance
(Jul 19, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr15:45895342
GRCh38:
Chr15:45603144
BLOC1S6S90L, S95LHermansky-Pudlak syndrome 9Uncertain significance
(Aug 14, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr15:45884474
GRCh38:
Chr15:45592276
BLOC1S6T75I, T80IHermansky-Pudlak syndrome 9Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr15:45898701
GRCh38:
Chr15:45606503
BLOC1S6K170E, K175EHermansky-Pudlak syndrome 9Uncertain significance
(Jul 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr15:45897617
GRCh38:
Chr15:45605419
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Oct 17, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr15:45897663
GRCh38:
Chr15:45605465
BLOC1S6N117S, N122SHermansky-Pudlak syndrome 9Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr15:45879655
GRCh38:
Chr15:45587457
BLOC1S6G5EHermansky-Pudlak syndrome 9Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr15:45879666
GRCh38:
Chr15:45587468
BLOC1S6P9SHermansky-Pudlak syndrome 9Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr15:45879644
GRCh38:
Chr15:45587446
BLOC1S6M1IHermansky-Pudlak syndrome 9Uncertain significance
(Oct 14, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr15:45895330
GRCh38:
Chr15:45603132
BLOC1S6E86G, E91GHermansky-Pudlak syndrome 9Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr15:45898627
GRCh38:
Chr15:45606429
BLOC1S6K150R, K145RHermansky-Pudlak syndrome 9Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr15:45884402
GRCh38:
Chr15:45592204
BLOC1S6Q51R, Q56RHermansky-Pudlak syndrome 9Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr15:45898575-45898576
GRCh38:
Chr15:45606377-45606378
BLOC1S6Hermansky-Pudlak syndrome 9, Autoinflammatory syndromeBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr15:45884491
GRCh38:
Chr15:45592293
BLOC1S6Hermansky-Pudlak syndrome 9Benign
(Sep 24, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr15:45884391
GRCh38:
Chr15:45592193
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Mar 3, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr15:45879731
GRCh38:
Chr15:45587533
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Oct 17, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr15:45884373
GRCh38:
Chr15:45592175
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Oct 25, 2020)
criteria provided, single submitter
65.
GRCh37:
Chr15:45897640
GRCh38:
Chr15:45605442
BLOC1S6N85SHermansky-Pudlak syndrome 9Likely benign
(Mar 4, 2020)
criteria provided, single submitter
66.
GRCh37:
Chr15:45884448
GRCh38:
Chr15:45592250
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Sep 24, 2020)
criteria provided, single submitter
67.
GRCh37:
Chr15:45897656
GRCh38:
Chr15:45605458
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Jul 8, 2020)
criteria provided, single submitter
68.
GRCh37:
Chr15:45897631
GRCh38:
Chr15:45605433
BLOC1S6L82PHermansky-Pudlak syndrome 9Likely benign
(Sep 21, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr15:45895337
GRCh38:
Chr15:45603139
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Mar 14, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr15:45879710
GRCh38:
Chr15:45587512
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Jan 13, 2020)
criteria provided, single submitter
71.
GRCh37:
Chr15:45884380
GRCh38:
Chr15:45592182
BLOC1S6I44V, I49VHermansky-Pudlak syndrome 9Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr15:45884375
GRCh38:
Chr15:45592177
BLOC1S6L42S, L47SHermansky-Pudlak syndrome 9Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr15:45898662
GRCh38:
Chr15:45606464
BLOC1S6E162K, E157KHermansky-Pudlak syndrome 9Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr15:45897643
GRCh38:
Chr15:45605445
BLOC1S6H115Q, T86S, H110QHermansky-Pudlak syndrome 9Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr15:45879688
GRCh38:
Chr15:45587490
BLOC1S6P16LHermansky-Pudlak syndrome 9Uncertain significance
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr15:45897628
GRCh38:
Chr15:45605430
BLOC1S6F105L, L81W, F110LInborn genetic diseases, Hermansky-Pudlak syndrome 9Uncertain significance
(Jun 7, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr15:45898682-45898683
GRCh38:
Chr15:45606484-45606485
BLOC1S6L169fs, L164fsHermansky-Pudlak syndrome 9Uncertain significance
(Oct 2, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr15:45898693
GRCh38:
Chr15:45606495
BLOC1S6R167T, R172THermansky-Pudlak syndrome 9Uncertain significance
(Jul 26, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr15:45879735
GRCh38:
Chr15:45587537
BLOC1S6Hermansky-Pudlak syndrome 9Uncertain significance
(Jan 31, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr15:45879684
GRCh38:
Chr15:45587486
BLOC1S6R15WHermansky-Pudlak syndrome 9Uncertain significance
(Feb 5, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr15:45897623
GRCh38:
Chr15:45605425
BLOC1S6Hermansky-Pudlak syndrome 9Uncertain significance
(Jul 6, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr15:45898626
GRCh38:
Chr15:45606428
BLOC1S6K145E, K150EHermansky-Pudlak syndrome 9Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr15:45879729
GRCh38:
Chr15:45587531
BLOC1S6Hermansky-Pudlak syndrome 9Uncertain significance
(Jun 27, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr15:45884360
GRCh38:
Chr15:45592162
BLOC1S6G37E, G42EHermansky-Pudlak syndrome 9Uncertain significance
(Aug 31, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr15:45884365
GRCh38:
Chr15:45592167
BLOC1S6I39V, I44VHermansky-Pudlak syndrome 9Uncertain significance
(Oct 8, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr15:45884353
GRCh38:
Chr15:45592155
BLOC1S6D40N, D35NHermansky-Pudlak syndrome 9Uncertain significance
(May 6, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr15:45897632
GRCh38:
Chr15:45605434
BLOC1S6E107K, E112KHermansky-Pudlak syndrome 9Uncertain significance
(Jun 29, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr15:45884437
GRCh38:
Chr15:45592239
BLOC1S6D63N, D68NHermansky-Pudlak syndrome 9Uncertain significance
(Oct 28, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr15:45884450
GRCh38:
Chr15:45592252
BLOC1S6S67*, S72*Hermansky-Pudlak syndrome 9Pathogenic/Likely pathogenic
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr15:45897632-45897633
GRCh38:
Chr15:45605434-45605435
BLOC1S6R83W, E107M, E112MHermansky-Pudlak syndrome 9Likely pathogenic
(Feb 20, 2020)
criteria provided, single submitter
91.
GRCh37:
Chr15:45884436
GRCh38:
Chr15:45592238
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Nov 6, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr15:45895325
GRCh38:
Chr15:45603127
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Sep 17, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr15:45879713
GRCh38:
Chr15:45587515
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Oct 28, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr15:45879692
GRCh38:
Chr15:45587494
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Oct 14, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr15:45884394
GRCh38:
Chr15:45592196
BLOC1S6Hermansky-Pudlak syndrome 9Likely benign
(Oct 17, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr15:45898614
GRCh38:
Chr15:45606416
BLOC1S6Q146*, Q141*Hermansky-Pudlak syndrome 9Uncertain significance
(Jan 6, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr15:45898694
GRCh38:
Chr15:45606496
BLOC1S6R172S, R167SAutoinflammatory syndrome, Hermansky-Pudlak syndrome 9Uncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr15:45895359
GRCh38:
Chr15:45603161
BLOC1S6H101Y, H96YHermansky-Pudlak syndrome 9Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr15:45884381
GRCh38:
Chr15:45592183
BLOC1S6I44T, I49TInborn genetic diseases, Hermansky-Pudlak syndrome 9Uncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr15:45884446
GRCh38:
Chr15:45592248
BLOC1S6R66G, R71GHermansky-Pudlak syndrome 9Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
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