| - GRCh37:
- Chr10:100189359
- GRCh38:
- Chr10:98429602
| HPS1 | P147Q, P180Q, P183Q, P216Q, P270Q, P303Q, Q231K, Q264K | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Oct 30, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr10:100193810
- GRCh38:
- Chr10:98434053
| HPS1 | W146*, W23* | Hermansky-Pudlak syndrome 1 | Likely pathogenic
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100185657
- GRCh38:
- Chr10:98425900
| HPS1 | K202M, K235M, K238M, K271M, K325M, K34M, K358M | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Dec 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100202251-100203482
| HPS1 | | Hermansky-Pudlak syndrome 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:100177338
- GRCh38:
- Chr10:98417581
| HPS1 | R372C, R540C, R573C, R576C, R609C, R663C, R696C | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100190407
- GRCh38:
- Chr10:98430650
| HPS1 | A191T, R107H, R143H, R230H | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100190946
- GRCh38:
- Chr10:98431189
| HPS1 | E204*, E81* | Hermansky-Pudlak syndrome 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:100183442
- GRCh38:
- Chr10:98423685
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Oct 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100193749
- GRCh38:
- Chr10:98433992
| HPS1 | R119C | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Apr 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100195548
- GRCh38:
- Chr10:98435791
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100183496
- GRCh38:
- Chr10:98423739
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Jun 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100193726
- GRCh38:
- Chr10:98433969
| HPS1 | R174H | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100183349
- GRCh38:
- Chr10:98423592
| HPS1 | | Hermansky-Pudlak syndrome 1, not provided | Likely benign
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100183441
- GRCh38:
- Chr10:98423684
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100183497
- GRCh38:
- Chr10:98423740
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100189537
- GRCh38:
- Chr10:98429780
| HPS1 | | Hermansky-Pudlak syndrome 1, not provided | Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100190397
- GRCh38:
- Chr10:98430640
| HPS1 | D110E, D146E, T194N, D233E | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Oct 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100195111
- GRCh38:
- Chr10:98435354
| HPS1 | R106W | Hermansky-Pudlak syndrome 1, Inborn genetic diseases, not provided
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100183615
- GRCh38:
- Chr10:98423858
| HPS1 | R476P, R353P, R443P, R152P, R320P, R356P, R389P | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100182172
- GRCh38:
- Chr10:98422415
| HPS1 | S242L, S410L, S443L, S533L, S566L, S446L, S479L | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100193828
- GRCh38:
- Chr10:98434071
| HPS1 | A17V, A140V | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Dec 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100182151
- GRCh38:
- Chr10:98422394
| HPS1 | P540L, P573L, P249L, P450L, P486L, P417L, P453L | Inborn genetic diseases, not provided, Hermansky-Pudlak syndrome 1
| Uncertain significance
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100195038
- GRCh38:
- Chr10:98435281
| HPS1 | I130T | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100185612
- GRCh38:
- Chr10:98425855
| HPS1 | P217H, P286H, P373H, P49H, P250H, P253H, P340H | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100202915
- GRCh38:
- Chr10:98443158
| HPS1 | L28Q | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100195446
- GRCh38:
- Chr10:98435689
| HPS1 | D67E | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100185680
- GRCh38:
- Chr10:98425923
| HPS1 | R194S, R26S, R350S, R230S, R263S, R317S, R227S | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100183583-100183602
- GRCh38:
- Chr10:98423826-98423845
| HPS1 | I157fs, I325fs, I358fs, I361fs, I394fs, I448fs, I481fs | not provided, Hermansky-Pudlak syndrome 1 | Pathogenic/Likely pathogenic
(Jun 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100182151
- GRCh38:
- Chr10:98422394
| HPS1 | P249R, P417R, P450R, P453R, P486R, P540R, P573R | Hermansky-Pudlak syndrome 1, not specified, not provided
| Uncertain significance
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100179801
- GRCh38:
- Chr10:98420044
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely pathogenic
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100202989
- GRCh38:
- Chr10:98443232
| HPS1 | C3* | not provided, Hermansky-Pudlak syndrome 1 | Pathogenic/Likely pathogenic
(Mar 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100185339
- GRCh38:
- Chr10:98425582
| HPS1 | M108L, M276L, M309L, M312L, M345L, M399L, M432L | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100202983
- GRCh38:
- Chr10:98443226
| HPS1 | L5F | not provided, not specified, Hermansky-Pudlak syndrome 1
| Uncertain significance
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100177975
- GRCh38:
- Chr10:98418218
| HPS1 | D309N, D477N, D510N, D513N, D546N, D600N, D633N | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100190336
- GRCh38:
- Chr10:98430579
| HPS1 | D131N, D167N, D254N | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100189568
- GRCh38:
- Chr10:98429811
| HPS1 | G160R, G196R, G283R | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100195583
- GRCh38:
- Chr10:98435826
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100190264
- GRCh38:
- Chr10:98430507
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100189242
- GRCh38:
- Chr10:98429485
| HPS1 | P270S, P303S | not provided, Hermansky-Pudlak syndrome 1 | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100189138
- GRCh38:
- Chr10:98429381
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100189634-100189635
- GRCh38:
- Chr10:98429877-98429878
| HPS1 | G222fs, R138fs, R174fs, R261fs | Hermansky-Pudlak syndrome 1 | Pathogenic
(Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100183633
- GRCh38:
- Chr10:98423876
| HPS1 | A146V, A314V, A347V, A350V, A383V, A437V, A470V | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100193853
- GRCh38:
- Chr10:98434096
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100178012
- GRCh38:
- Chr10:98418255
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100189358
- GRCh38:
- Chr10:98429601
| HPS1 | Q231R, Q264R | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Aug 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100193725
- GRCh38:
- Chr10:98433968
| HPS1 | R127W | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100184084
- GRCh38:
- Chr10:98424327
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100183431
- GRCh38:
- Chr10:98423674
| HPS1 | | Hermansky-Pudlak syndrome 1, not provided | Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100190986
- GRCh38:
- Chr10:98431229
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100185394
- GRCh38:
- Chr10:98425637
| HPS1 | | Hermansky-Pudlak syndrome 1, not provided | Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100185388
- GRCh38:
- Chr10:98425631
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100179893
- GRCh38:
- Chr10:98420136
| HPS1 | A265V, A433V, A466V, A469V, A502V, A556V, A589V | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Jun 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100189639
- GRCh38:
- Chr10:98429882
| HPS1 | P136L, P172L, P259L, R220C | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100177407
- GRCh38:
- Chr10:98417650
| HPS1 | S349P, S517P, S550P, S553P, S586P, S640P, S673P | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100202917
- GRCh38:
- Chr10:98443160
| HPS1 | | Hermansky-Pudlak syndrome 1 | Likely pathogenic
(Mar 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100179896
- GRCh38:
- Chr10:98420139
| HPS1 | L264P, L465P, L432P, L468P, L501P, L588P, L555P | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Nov 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100187019
- GRCh38:
- Chr10:98427262
| HPS1 | S158G, S191G, S194G, S227G, S281G, S314G | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100189389-100189392
- GRCh38:
- Chr10:98429632-98429635
| HPS1 | D136fs, D169fs, D172fs, D205fs, D259fs, D292fs, T220fs, T253fs | Hermansky-Pudlak syndrome 1 | Likely pathogenic
(Nov 13, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr10:100185353-100185354
- GRCh38:
- Chr10:98425596-98425597
| HPS1 | D103fs, D271fs, D304fs, D307fs, D340fs, D394fs, D427fs | Hermansky-Pudlak syndrome 1 | Likely pathogenic
(Nov 13, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr10:100202967
- GRCh38:
- Chr10:98443210
| HPS1 | A11T | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100195107
- GRCh38:
- Chr10:98435350
| HPS1 | R107Q | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100186989
- GRCh38:
- Chr10:98427232
| HPS1 | P168A, P201A, P204A, P237A, P291A, P324A | not provided, Inborn genetic diseases, Hermansky-Pudlak syndrome 1
| Uncertain significance
(Jan 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100183594
- GRCh38:
- Chr10:98423837
| HPS1 | R159Q, R327Q, R360Q, R363Q, R396Q, R450Q, R483Q | Inborn genetic diseases, not provided, Hermansky-Pudlak syndrome 1
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100179863
- GRCh38:
- Chr10:98420106
| HPS1 | T275M, T443M, T476M, T479M, T512M, T566M, T599M | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100177447
- GRCh38:
- Chr10:98417690
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100177356
- GRCh38:
- Chr10:98417599
| HPS1 | R366C, R534C, R567C, R570C, R603C, R657C, R690C | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100177337
- GRCh38:
- Chr10:98417580
| HPS1 | R372H, R540H, R573H, R576H, R609H, R663H, R696H | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100191039
- GRCh38:
- Chr10:98431282
| HPS1 | R173*, R50* | Hermansky-Pudlak syndrome, not provided, Hermansky-Pudlak syndrome 1
| Pathogenic
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100193771-100193780
- GRCh38:
- Chr10:98434014-98434023
| HPS1 | Y156fs, Q109fs, Y33fs | not provided, Hermansky-Pudlak syndrome 1 | Pathogenic
(Dec 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100183595
- GRCh38:
- Chr10:98423838
| HPS1 | R396W, R450W, R483W, R360W, R159W, R327W, R363W | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100176870
- GRCh38:
- Chr10:98417113
| HPS1 | | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100176744
- GRCh38:
- Chr10:98416987
| HPS1 | | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100176109
- GRCh38:
- Chr10:98416352
| HPS1 | | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100193779
- GRCh38:
- Chr10:98434022
| HPS1 | Q109* | Hermansky-Pudlak syndrome 1, not provided | Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:100193774
- GRCh38:
- Chr10:98434017
| HPS1 | R158H, R35H | Hermansky-Pudlak syndrome 1, not provided | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100179868
- GRCh38:
- Chr10:98420111
| HPS1 | | Hermansky-Pudlak syndrome 1, not provided | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:100179813
- GRCh38:
- Chr10:98420056
| HPS1 | E496K, E529K, E292K, E493K, E616K, E460K, E583K | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, not provided
| Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:100176682
- GRCh38:
- Chr10:98416925
| HPS1 | | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100176630
- GRCh38:
- Chr10:98416873
| HPS1 | | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100177473
- GRCh38:
- Chr10:98417716
| HPS1 | R531C, R651C, R495C, R564C, R327C, R528C, R618C | HPS1-related condition, not provided, Hermansky-Pudlak syndrome 1
| Uncertain significance
(Jul 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100177456
- GRCh38:
- Chr10:98417699
| HPS1 | N500K, N533K, N332K, N569K, N623K, N656K, N536K | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100176602
- GRCh38:
- Chr10:98416845
| HPS1 | | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100206677
- GRCh38:
- Chr10:98446920
| HPS1, HPS1-AS1, LOC130004494 | | Hermansky-Pudlak syndrome 1 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100190354
- GRCh38:
- Chr10:98430597
| HPS1 | E161K, E248K, E125K | not provided, Hermansky-Pudlak syndrome 1 | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100177358
- GRCh38:
- Chr10:98417601
| HPS1 | R566Q, R602Q, R656Q, R689Q, R365Q, R569Q, R533Q | not specified, not provided, Hermansky-Pudlak syndrome 1
| Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:100177069
- GRCh38:
- Chr10:98417312
| HPS1 | | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100176353
- GRCh38:
- Chr10:98416596
| HPS1 | | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100176320
- GRCh38:
- Chr10:98416563
| HPS1 | | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100176278
- GRCh38:
- Chr10:98416521
| HPS1 | | Hermansky-Pudlak syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100182237
- GRCh38:
- Chr10:98422480
| HPS1 | F421L, F544L, F220L, F424L, F388L, F457L, F511L | Hermansky-Pudlak syndrome | Uncertain significance
(Nov 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:100177387
- GRCh38:
- Chr10:98417630
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:100202908
- GRCh38:
- Chr10:98443151
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:100189628
- GRCh38:
- Chr10:98429871
| HPS1 | R176W, R140W, R263W | not provided, Hermansky-Pudlak syndrome 1 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:100183653
- GRCh38:
- Chr10:98423896
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100195449
- GRCh38:
- Chr10:98435692
| HPS1 | | Hermansky-Pudlak syndrome 1, not provided | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100195443
- GRCh38:
- Chr10:98435686
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:100183413
- GRCh38:
- Chr10:98423656
| HPS1 | | Hermansky-Pudlak syndrome 1, not provided | Likely benign
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100185469
- GRCh38:
- Chr10:98425712
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Likely benign
(Jun 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:100177976
- GRCh38:
- Chr10:98418219
| HPS1 | | not provided, Hermansky-Pudlak syndrome 1 | Conflicting interpretations of pathogenicity
(Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:100184126
- GRCh38:
- Chr10:98424369
| HPS1 | | Hermansky-Pudlak syndrome 1, not provided | Likely benign
(Aug 13, 2022) | criteria provided, multiple submitters, no conflicts |