Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter)	SNV Germline	Chr22:26457923	Pathogenic	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Single Submitter	CA340167	rs_119471021	2 SubmittersRCV000004341 RCV003555912
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter)	SNV Germline	Chr22:26470774	Pathogenic	Hermansky-Pudlak syndrome 4	No Assertion Criteria Provided	CA340173	rs_119471022	1 SubmittersRCV000004344
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)	SNV Germline	Chr22:26468571	Pathogenic/Likely pathogenic	Hermansky-Pudlak syndrome 4 Condition: not provided Hermansky-Pudlak syndrome See cases	Criteria Provided Multiple Submitters No Conflicts	CA340183	rs_119471023	11 SubmittersRCV000004346 RCV001851644 RCV004799731 RCV004584314
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter)	SNV Germline	Chr22:26472391	Pathogenic	Hermansky-Pudlak syndrome 4	No Assertion Criteria Provided	CA340188	rs_119471024	1 SubmittersRCV000004347
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter)	SNV Germline	Chr22:26468556	Pathogenic	Hermansky-Pudlak syndrome 4	No Assertion Criteria Provided	CA340193	rs_119471025	1 SubmittersRCV000004348
NM_022081.6(HPS4):c.461A>G (p.His154Arg)	SNV Germline	Chr22:26472342	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 not specified	Criteria Provided Conflicting Classifications	CA342358	rs_281865098	3 SubmittersRCV000020872 RCV004799749
NM_022081.6(HPS4):c.888C>T (p.Asn296=)	SNV Germline	Chr22:26464742	Conflicting classifications of pathogenicity	not specified Condition: not provided Hermansky-Pudlak syndrome 4	Criteria Provided Conflicting Classifications	CA208754	rs_138343171	5 SubmittersRCV000194530 RCV000899089 RCV001144817
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)	SNV Germline	Chr22:26477019	Conflicting classifications of pathogenicity	not specified Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA206716	rs_149830675	12 SubmittersRCV000193321 RCV000625206 RCV000970806
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)	SNV Germline	Chr22:26464498	Pathogenic/Likely pathogenic	Hermansky-Pudlak syndrome Condition: not provided Hermansky-Pudlak syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA10163396	rs_369053765	5 SubmittersRCV000214159 RCV001853424 RCV002517523
NM_022081.6(HPS4):c.1883G>A (p.Arg628His)	SNV Germline	Chr22:26457931	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163169	rs_78892693	7 SubmittersRCV000379670 RCV003258729 RCV000625205 RCV000896719
NM_022081.6(HPS4):c.1857G>A (p.Pro619=)	SNV Germline	Chr22:26457957	Conflicting classifications of pathogenicity	Condition: not provided Hermansky-Pudlak syndrome 4 HPS4-related disorder	Criteria Provided Conflicting Classifications	CA10163177	rs_373421312	4 SubmittersRCV000287279 RCV000408319 RCV003949940
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)	SNV Germline	Chr22:26463930	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 not specified Condition: not provided HPS4-related disorder	Criteria Provided Conflicting Classifications	CA10163259	rs_140234219	7 SubmittersRCV000408332 RCV000598107 RCV000878999 RCV003969984
NM_022081.6(HPS4):c.1641C>T (p.Cys547=)	SNV Germline	Chr22:26463989	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163273	rs_199740072	2 SubmittersRCV000301906 RCV002523212
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)	SNV Germline	Chr22:26465507	Conflicting classifications of pathogenicity	not specified Hermansky-Pudlak syndrome 4 Oculocutaneous albinism Condition: not provided Uveal melanoma Colorectal cancer Thyroid cancer, nonmedullary, 1 Hepatocellular carcinoma Adrenocortical carcinoma, hereditary Lung cancer Cervical cancer Clear cell carcinoma of kidney Malignant lymphoma, large B-cell, diffuse Melanoma Malignant tumor of esophagus Sarcoma Gastric cancer Ovarian serous cystadenocarcinoma Thymoma	Criteria Provided Conflicting Classifications	CA10163504	rs_34962745	7 SubmittersRCV000614234 RCV000856673 RCV000767301 RCV000950297 RCV005897534 RCV005897536 RCV005897541 RCV005897529 RCV005897531 RCV005897543 RCV005897532 RCV005897533 RCV005897535 RCV005897542 RCV005897530 RCV005897537 RCV005897538 RCV005897539 RCV005897540
NM_022081.6(HPS4):c.1692C>T (p.Asp564=)	SNV Germline	Chr22:26463938	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163265	rs_759632995	2 SubmittersRCV000307056 RCV003105875
NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys)	SNV Germline	Chr22:26458544	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA10163227	rs_145481980	4 SubmittersRCV000346739 RCV002057796 RCV002520041 RCV005238929
NM_022081.6(HPS4):c.1680G>A (p.Pro560=)	SNV Germline	Chr22:26463950	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163266	rs_527653764	3 SubmittersRCV000361688 RCV000916058
NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn)	SNV Germline	Chr22:26464398	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10163370	rs_201043011	5 SubmittersRCV000277365 RCV004689719 RCV001861198 RCV003243097
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala)	SNV Germline	Chr22:26464708	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163443	rs_150057646	4 SubmittersRCV000289103 RCV001354952
NM_022081.6(HPS4):c.687G>A (p.Glu229=)	SNV Germline	Chr22:26466245	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163569	rs_758547221	2 SubmittersRCV000355984 RCV002523214
NM_022081.6(HPS4):c.81G>A (p.Lys27=)	SNV Germline	Chr22:26479316	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163833	rs_763708665	2 SubmittersRCV000328283 RCV000892347
NM_022081.6(HPS4):c.1959T>C (p.Asn653=)	SNV Germline	Chr22:26453401	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163118	rs_202120615	2 SubmittersRCV000389685 RCV001470205
NM_022081.6(HPS4):c.1192A>C (p.Arg398=)	SNV Germline	Chr22:26464438	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided HPS4-related disorder	Criteria Provided Conflicting Classifications	CA10163382	rs_375655372	3 SubmittersRCV000332464 RCV000909100 RCV003910336
NM_022081.6(HPS4):c.706+15G>T	SNV Germline	Chr22:26466211	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163561	rs_762647750	2 SubmittersRCV000391306 RCV006462484
NM_022081.6(HPS4):c.177A>C (p.Gly59=)	SNV Germline	Chr22:26477092	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10653973	rs_886057320	2 SubmittersRCV000273073 RCV003669136
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)	SNV Germline	Chr22:26477121	Pathogenic/Likely pathogenic	Condition: not provided Hermansky-Pudlak syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA10163802	rs_372020804	3 SubmittersRCV000728955 RCV003461002
NM_022081.6(HPS4):c.704A>G (p.His235Arg)	SNV Germline	Chr22:26466228	Conflicting classifications of pathogenicity	Condition: not provided Hermansky-Pudlak syndrome 4 HPS4-related disorder not specified	Criteria Provided Conflicting Classifications	CA10163566	rs_150166679	5 SubmittersRCV000880339 RCV001146783 RCV003920509 RCV004702503
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys)	SNV Germline	Chr22:26464234	Conflicting classifications of pathogenicity	Condition: not provided Hermansky-Pudlak syndrome 4 not specified	Criteria Provided Conflicting Classifications	CA10163334	rs_147435410	6 SubmittersRCV000907721 RCV001147591 RCV002282404
NM_022081.6(HPS4):c.706+8G>C	SNV Germline	Chr22:26466218	Conflicting classifications of pathogenicity	Condition: not provided Hermansky-Pudlak syndrome 4	Criteria Provided Conflicting Classifications	CA10163563	rs_3747131	2 SubmittersRCV000899803 RCV001146782
NM_022081.6(HPS4):c.618G>A (p.Pro206=)	SNV Germline	Chr22:26468602	Conflicting classifications of pathogenicity	Condition: not provided Hermansky-Pudlak syndrome 4	Criteria Provided Conflicting Classifications	CA10163614	rs_139165558	2 SubmittersRCV000916781 RCV001147684
NM_022081.6(HPS4):c.1947G>A (p.Met649Ile)	SNV Germline	Chr22:26457867	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163144	rs_146303784	2 SubmittersRCV001147481 RCV001520036
NM_022081.6(HPS4):c.1758G>A (p.Leu586=)	SNV Germline	Chr22:26458533	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA513921395	rs_1356334936	2 SubmittersRCV001144719 RCV003669202
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu)	SNV Germline	Chr22:26463951	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided Inborn genetic diseases HPS4-related disorder	Criteria Provided Conflicting Classifications	CA10163267	rs_143902143	5 SubmittersRCV001146686 RCV001326430 RCV003163325 RCV003945869
NM_022081.6(HPS4):c.1455G>A (p.Thr485=)	SNV Germline	Chr22:26464175	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163321	rs_756215705	2 SubmittersRCV001147590 RCV002070792
NM_022081.6(HPS4):c.1014C>T (p.Pro338=)	SNV Germline	Chr22:26464616	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided HPS4-related disorder	Criteria Provided Conflicting Classifications	CA10163423	rs_188300485	3 SubmittersRCV001150916 RCV002559457 RCV003918740
NM_022081.6(HPS4):c.930T>C (p.Asp310=)	SNV Germline	Chr22:26464700	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA514164668	rs_1210344296	2 SubmittersRCV001150917 RCV003546658
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu)	SNV Germline	Chr22:26470722	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided HPS4-related disorder	Criteria Provided Conflicting Classifications	CA10163641	rs_199965734	4 SubmittersRCV001151024 RCV002070825 RCV003963093
NM_022081.6(HPS4):c.570C>T (p.Leu190=)	SNV Germline	Chr22:26470745	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163645	rs_201820144	2 SubmittersRCV001151025 RCV002070826
NM_022081.6(HPS4):c.411G>A (p.Thr137=)	SNV Germline	Chr22:26472392	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163711	rs_375462083	2 SubmittersRCV001144925 RCV002070747
NM_022081.6(HPS4):c.133-6C>T	SNV Germline	Chr22:26477142	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided HPS4-related disorder not specified	Criteria Provided Conflicting Classifications	CA10163806	rs_571184796	4 SubmittersRCV001144926 RCV002557100 RCV003918729 RCV006455463
NM_022081.6(HPS4):c.706+1G>A	SNV Germline	Chr22:26466225	Pathogenic/Likely pathogenic	Condition: not provided Hermansky-Pudlak syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA10163565	rs_374343385	4 SubmittersRCV001571422 RCV002570781
NM_022081.6(HPS4):c.384+1G>A	SNV Germline	Chr22:26472831	Conflicting classifications of pathogenicity	Condition: not provided Hermansky-Pudlak syndrome 4 See cases	Criteria Provided Conflicting Classifications	CA10163733	rs_201334605	3 SubmittersRCV002045280 RCV003471254 RCV004584459
NM_022081.6(HPS4):c.502-1G>A	SNV Germline	Chr22:26470814	Likely pathogenic	Condition: not provided Hermansky-Pudlak syndrome 4 Melanoma	Criteria Provided Single Submitter	CA411030575	rs_2146757484	3 SubmittersRCV002246204 RCV003992620 RCV005930046
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter)	SNV Germline	Chr22:26464095	Likely pathogenic	Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA10163296	rs_150216540	2 SubmittersRCV002271847 RCV004572110
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)	SNV Germline	Chr22:26464084	Pathogenic/Likely pathogenic	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10163291	rs_372833027	4 SubmittersRCV002789957 RCV003108234
NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)	SNV Germline	Chr22:26472859	Conflicting classifications of pathogenicity	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10163742	rs_767168755	2 SubmittersRCV002789959 RCV003730397
NM_022081.6(HPS4):c.133-2A>T	SNV Germline	Chr22:26477138	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411032912	rs_2518592712	1 SubmittersRCV003229497
NM_022081.6(HPS4):c.133-1G>A	SNV Unknown	Chr22:26477137	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411032907	rs_2518592683	1 SubmittersRCV003469827
NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter)	SNV Unknown	Chr22:26464221	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411027068	rs_2518202814	1 SubmittersRCV003461730
NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)	SNV Unknown	Chr22:26472900	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411031678	rs_149817614	1 SubmittersRCV003469829
NM_022081.6(HPS4):c.232A>T (p.Arg78Ter)	SNV Unknown	Chr22:26477037	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA322856208	rs_907021617	1 SubmittersRCV003461731
NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter)	SNV Unknown	Chr22:26464540	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411028068	rs_2518216788	1 SubmittersRCV003469832
NM_022081.6(HPS4):c.133-2A>G	SNV Germline	Chr22:26477138	Likely pathogenic	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA411032913	rs_2518592712	2 SubmittersRCV003469833 RCV003689091
NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)	SNV Unknown	Chr22:26457890	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411023825	rs_2518037452	1 SubmittersRCV003469834
NM_022081.6(HPS4):c.502-2A>T	SNV Unknown	Chr22:26470815	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411030577	rs_1396012729	1 SubmittersRCV003461733
NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter)	SNV Germline	Chr22:26464300	Pathogenic/Likely pathogenic	Hermansky-Pudlak syndrome 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA411027285	rs_774979651	2 SubmittersRCV003469835 RCV003549101
NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter)	SNV Unknown	Chr22:26457941	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411024056	rs_2146357374	1 SubmittersRCV003469836
NM_022081.6(HPS4):c.844C>T (p.Gln282Ter)	SNV Unknown	Chr22:26464786	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411028709	rs_2518228363	1 SubmittersRCV003469838
NM_022081.6(HPS4):c.132+1G>A	SNV Unknown	Chr22:26479264	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411033001	rs_2518647010	1 SubmittersRCV003461737
NM_022081.6(HPS4):c.42-2A>C	SNV Unknown	Chr22:26479357	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411033280	rs_2518649872	1 SubmittersRCV003461738
NM_022081.6(HPS4):c.42-2A>G	SNV Unknown	Chr22:26479357	Likely pathogenic	Hermansky-Pudlak syndrome 4 Melanoma	Criteria Provided Single Submitter	CA411033279	rs_2518649872	2 SubmittersRCV003469840 RCV005927712
NM_022081.6(HPS4):c.669+1G>A	SNV Unknown	Chr22:26468550	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter	CA411030100	rs_776613510	1 SubmittersRCV003469841
NM_022081.6(HPS4):c.45G>A (p.Trp15Ter)	SNV Unknown	Chr22:26479352	Pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter		rs_2091014318	1 SubmittersRCV004576738
NM_022081.6(HPS4):c.44G>A (p.Trp15Ter)	SNV Unknown	Chr22:26479353	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter		rs_2518649819	1 SubmittersRCV004576741
NM_022081.6(HPS4):c.32C>G (p.Ser11Ter)	SNV Unknown	Chr22:26481731	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter		rs_2518700819	1 SubmittersRCV004576742
NM_022081.6(HPS4):c.1015G>A (p.Ala339Thr)	SNV Germline	Chr22:26464615	Conflicting classifications of pathogenicity	Inborn genetic diseases Hermansky-Pudlak syndrome 4	Criteria Provided Conflicting Classifications			2 SubmittersRCV004985963 RCV005038911
NM_022081.6(HPS4):c.1847-1G>A	SNV Germline	Chr22:26457968	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter			1 SubmittersRCV005029281
NM_022081.6(HPS4):c.1714-1G>T	SNV Germline	Chr22:26458578	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter			1 SubmittersRCV005032783
NM_022081.6(HPS4):c.904G>T (p.Glu302Ter)	SNV Germline	Chr22:26464726	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter			1 SubmittersRCV005032784
NM_022081.6(HPS4):c.502-1G>T	SNV Germline	Chr22:26470814	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter			1 SubmittersRCV005032785
NM_022081.6(HPS4):c.1630T>A (p.Tyr544Asn)	SNV Germline	Chr22:26464000	Likely pathogenic	Hermansky-Pudlak syndrome 4	Criteria Provided Single Submitter			1 SubmittersRCV006275907

NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter)

SNV
Germline

Chr22:26457923

Pathogenic

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Single Submitter

CA340167

rs_119471021

2 SubmittersRCV000004341 RCV003555912

NM_022081.6(HPS4):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr22:26470774

Pathogenic

Hermansky-Pudlak syndrome 4

No Assertion Criteria Provided

CA340173

rs_119471022

1 SubmittersRCV000004344

NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)

SNV
Germline

Chr22:26468571

Pathogenic/Likely pathogenic

Hermansky-Pudlak syndrome 4
Condition: not provided
Hermansky-Pudlak syndrome
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA340183

rs_119471023

11 SubmittersRCV000004346 RCV001851644 RCV004799731 RCV004584314

NM_022081.6(HPS4):c.412G>T (p.Glu138Ter)

SNV
Germline

Chr22:26472391

Pathogenic

Hermansky-Pudlak syndrome 4

No Assertion Criteria Provided

CA340188

rs_119471024

1 SubmittersRCV000004347

NM_022081.6(HPS4):c.664G>T (p.Glu222Ter)

SNV
Germline

Chr22:26468556

Pathogenic

Hermansky-Pudlak syndrome 4

No Assertion Criteria Provided

CA340193

rs_119471025

1 SubmittersRCV000004348

NM_022081.6(HPS4):c.461A>G (p.His154Arg)

SNV
Germline

Chr22:26472342

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA342358

rs_281865098

3 SubmittersRCV000020872 RCV004799749

NM_022081.6(HPS4):c.888C>T (p.Asn296=)

SNV
Germline

Chr22:26464742

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hermansky-Pudlak syndrome 4

Criteria Provided
Conflicting Classifications

CA208754

rs_138343171

5 SubmittersRCV000194530 RCV000899089 RCV001144817

NM_022081.6(HPS4):c.250A>G (p.Ile84Val)

SNV
Germline

Chr22:26477019

Conflicting classifications of pathogenicity

not specified
Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206716

rs_149830675

12 SubmittersRCV000193321 RCV000625206 RCV000970806

NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)

SNV
Germline

Chr22:26464498

Pathogenic/Likely pathogenic

Hermansky-Pudlak syndrome
Condition: not provided
Hermansky-Pudlak syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10163396

rs_369053765

5 SubmittersRCV000214159 RCV001853424 RCV002517523

NM_022081.6(HPS4):c.1883G>A (p.Arg628His)

SNV
Germline

Chr22:26457931

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163169

rs_78892693

7 SubmittersRCV000379670 RCV003258729 RCV000625205 RCV000896719

NM_022081.6(HPS4):c.1857G>A (p.Pro619=)

SNV
Germline

Chr22:26457957

Conflicting classifications of pathogenicity

Condition: not provided
Hermansky-Pudlak syndrome 4
HPS4-related disorder

Criteria Provided
Conflicting Classifications

CA10163177

rs_373421312

4 SubmittersRCV000287279 RCV000408319 RCV003949940

NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)

SNV
Germline

Chr22:26463930

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
not specified
Condition: not provided
HPS4-related disorder

Criteria Provided
Conflicting Classifications

CA10163259

rs_140234219

7 SubmittersRCV000408332 RCV000598107 RCV000878999 RCV003969984

NM_022081.6(HPS4):c.1641C>T (p.Cys547=)

SNV
Germline

Chr22:26463989

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163273

rs_199740072

2 SubmittersRCV000301906 RCV002523212

NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)

SNV
Germline

Chr22:26465507

Conflicting classifications of pathogenicity

not specified
Hermansky-Pudlak syndrome 4
Oculocutaneous albinism
Condition: not provided
Uveal melanoma
Colorectal cancer
Thyroid cancer, nonmedullary, 1
Hepatocellular carcinoma
Adrenocortical carcinoma, hereditary
Lung cancer
Cervical cancer
Clear cell carcinoma of kidney
Malignant lymphoma, large B-cell, diffuse
Melanoma
Malignant tumor of esophagus
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Thymoma

Criteria Provided
Conflicting Classifications

CA10163504

rs_34962745

7 SubmittersRCV000614234 RCV000856673 RCV000767301 RCV000950297 RCV005897534 RCV005897536 RCV005897541 RCV005897529 RCV005897531 RCV005897543 RCV005897532 RCV005897533 RCV005897535 RCV005897542 RCV005897530 RCV005897537 RCV005897538 RCV005897539 RCV005897540

NM_022081.6(HPS4):c.1692C>T (p.Asp564=)

SNV
Germline

Chr22:26463938

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163265

rs_759632995

2 SubmittersRCV000307056 RCV003105875

NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys)

SNV
Germline

Chr22:26458544

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10163227

rs_145481980

4 SubmittersRCV000346739 RCV002057796 RCV002520041 RCV005238929

NM_022081.6(HPS4):c.1680G>A (p.Pro560=)

SNV
Germline

Chr22:26463950

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163266

rs_527653764

3 SubmittersRCV000361688 RCV000916058

NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn)

SNV
Germline

Chr22:26464398

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10163370

rs_201043011

5 SubmittersRCV000277365 RCV004689719 RCV001861198 RCV003243097

NM_022081.6(HPS4):c.922A>G (p.Thr308Ala)

SNV
Germline

Chr22:26464708

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163443

rs_150057646

4 SubmittersRCV000289103 RCV001354952

NM_022081.6(HPS4):c.687G>A (p.Glu229=)

SNV
Germline

Chr22:26466245

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163569

rs_758547221

2 SubmittersRCV000355984 RCV002523214

NM_022081.6(HPS4):c.81G>A (p.Lys27=)

SNV
Germline

Chr22:26479316

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163833

rs_763708665

2 SubmittersRCV000328283 RCV000892347

NM_022081.6(HPS4):c.1959T>C (p.Asn653=)

SNV
Germline

Chr22:26453401

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163118

rs_202120615

2 SubmittersRCV000389685 RCV001470205

NM_022081.6(HPS4):c.1192A>C (p.Arg398=)

SNV
Germline

Chr22:26464438

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided
HPS4-related disorder

Criteria Provided
Conflicting Classifications

CA10163382

rs_375655372

3 SubmittersRCV000332464 RCV000909100 RCV003910336

NM_022081.6(HPS4):c.706+15G>T

SNV
Germline

Chr22:26466211

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163561

rs_762647750

2 SubmittersRCV000391306 RCV006462484

NM_022081.6(HPS4):c.177A>C (p.Gly59=)

SNV
Germline

Chr22:26477092

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653973

rs_886057320

2 SubmittersRCV000273073 RCV003669136

NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)

SNV
Germline

Chr22:26477121

Pathogenic/Likely pathogenic

Condition: not provided
Hermansky-Pudlak syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10163802

rs_372020804

3 SubmittersRCV000728955 RCV003461002

NM_022081.6(HPS4):c.704A>G (p.His235Arg)

SNV
Germline

Chr22:26466228

Conflicting classifications of pathogenicity

Condition: not provided
Hermansky-Pudlak syndrome 4
HPS4-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10163566

rs_150166679

5 SubmittersRCV000880339 RCV001146783 RCV003920509 RCV004702503

NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys)

SNV
Germline

Chr22:26464234

Conflicting classifications of pathogenicity

Condition: not provided
Hermansky-Pudlak syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA10163334

rs_147435410

6 SubmittersRCV000907721 RCV001147591 RCV002282404

NM_022081.6(HPS4):c.706+8G>C

SNV
Germline

Chr22:26466218

Conflicting classifications of pathogenicity

Condition: not provided
Hermansky-Pudlak syndrome 4

Criteria Provided
Conflicting Classifications

CA10163563

rs_3747131

2 SubmittersRCV000899803 RCV001146782

NM_022081.6(HPS4):c.618G>A (p.Pro206=)

SNV
Germline

Chr22:26468602

Conflicting classifications of pathogenicity

Condition: not provided
Hermansky-Pudlak syndrome 4

Criteria Provided
Conflicting Classifications

CA10163614

rs_139165558

2 SubmittersRCV000916781 RCV001147684

NM_022081.6(HPS4):c.1947G>A (p.Met649Ile)

SNV
Germline

Chr22:26457867

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163144

rs_146303784

2 SubmittersRCV001147481 RCV001520036

NM_022081.6(HPS4):c.1758G>A (p.Leu586=)

SNV
Germline

Chr22:26458533

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA513921395

rs_1356334936

2 SubmittersRCV001144719 RCV003669202

NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu)

SNV
Germline

Chr22:26463951

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided
Inborn genetic diseases
HPS4-related disorder

Criteria Provided
Conflicting Classifications

CA10163267

rs_143902143

5 SubmittersRCV001146686 RCV001326430 RCV003163325 RCV003945869

NM_022081.6(HPS4):c.1455G>A (p.Thr485=)

SNV
Germline

Chr22:26464175

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163321

rs_756215705

2 SubmittersRCV001147590 RCV002070792

NM_022081.6(HPS4):c.1014C>T (p.Pro338=)

SNV
Germline

Chr22:26464616

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided
HPS4-related disorder

Criteria Provided
Conflicting Classifications

CA10163423

rs_188300485

3 SubmittersRCV001150916 RCV002559457 RCV003918740

NM_022081.6(HPS4):c.930T>C (p.Asp310=)

SNV
Germline

Chr22:26464700

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA514164668

rs_1210344296

2 SubmittersRCV001150917 RCV003546658

NM_022081.6(HPS4):c.593G>A (p.Gly198Glu)

SNV
Germline

Chr22:26470722

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided
HPS4-related disorder

Criteria Provided
Conflicting Classifications

CA10163641

rs_199965734

4 SubmittersRCV001151024 RCV002070825 RCV003963093

NM_022081.6(HPS4):c.570C>T (p.Leu190=)

SNV
Germline

Chr22:26470745

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163645

rs_201820144

2 SubmittersRCV001151025 RCV002070826

NM_022081.6(HPS4):c.411G>A (p.Thr137=)

SNV
Germline

Chr22:26472392

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163711

rs_375462083

2 SubmittersRCV001144925 RCV002070747

NM_022081.6(HPS4):c.133-6C>T

SNV
Germline

Chr22:26477142

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided
HPS4-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10163806

rs_571184796

4 SubmittersRCV001144926 RCV002557100 RCV003918729 RCV006455463

NM_022081.6(HPS4):c.706+1G>A

SNV
Germline

Chr22:26466225

Pathogenic/Likely pathogenic

Condition: not provided
Hermansky-Pudlak syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10163565

rs_374343385

4 SubmittersRCV001571422 RCV002570781

NM_022081.6(HPS4):c.384+1G>A

SNV
Germline

Chr22:26472831

Conflicting classifications of pathogenicity

Condition: not provided
Hermansky-Pudlak syndrome 4
See cases

Criteria Provided
Conflicting Classifications

CA10163733

rs_201334605

3 SubmittersRCV002045280 RCV003471254 RCV004584459

NM_022081.6(HPS4):c.502-1G>A

SNV
Germline

Chr22:26470814

Likely pathogenic

Condition: not provided
Hermansky-Pudlak syndrome 4
Melanoma

Criteria Provided
Single Submitter

CA411030575

rs_2146757484

3 SubmittersRCV002246204 RCV003992620 RCV005930046

NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter)

SNV
Germline

Chr22:26464095

Likely pathogenic

Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10163296

rs_150216540

2 SubmittersRCV002271847 RCV004572110

NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr22:26464084

Pathogenic/Likely pathogenic

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10163291

rs_372833027

4 SubmittersRCV002789957 RCV003108234

NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)

SNV
Germline

Chr22:26472859

Conflicting classifications of pathogenicity

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10163742

rs_767168755

2 SubmittersRCV002789959 RCV003730397

NM_022081.6(HPS4):c.133-2A>T

SNV
Germline

Chr22:26477138

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411032912

rs_2518592712

1 SubmittersRCV003229497

NM_022081.6(HPS4):c.133-1G>A

SNV
Unknown

Chr22:26477137

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411032907

rs_2518592683

1 SubmittersRCV003469827

NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter)

SNV
Unknown

Chr22:26464221

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411027068

rs_2518202814

1 SubmittersRCV003461730

NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)

SNV
Unknown

Chr22:26472900

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411031678

rs_149817614

1 SubmittersRCV003469829

NM_022081.6(HPS4):c.232A>T (p.Arg78Ter)

SNV
Unknown

Chr22:26477037

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA322856208

rs_907021617

1 SubmittersRCV003461731

NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter)

SNV
Unknown

Chr22:26464540

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411028068

rs_2518216788

1 SubmittersRCV003469832

NM_022081.6(HPS4):c.133-2A>G

SNV
Germline

Chr22:26477138

Likely pathogenic

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411032913

rs_2518592712

2 SubmittersRCV003469833 RCV003689091

NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)

SNV
Unknown

Chr22:26457890

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411023825

rs_2518037452

1 SubmittersRCV003469834

NM_022081.6(HPS4):c.502-2A>T

SNV
Unknown

Chr22:26470815

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411030577

rs_1396012729

1 SubmittersRCV003461733

NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter)

SNV
Germline

Chr22:26464300

Pathogenic/Likely pathogenic

Hermansky-Pudlak syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411027285

rs_774979651

2 SubmittersRCV003469835 RCV003549101

NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter)

SNV
Unknown

Chr22:26457941

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411024056

rs_2146357374

1 SubmittersRCV003469836

NM_022081.6(HPS4):c.844C>T (p.Gln282Ter)

SNV
Unknown

Chr22:26464786

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411028709

rs_2518228363

1 SubmittersRCV003469838

NM_022081.6(HPS4):c.132+1G>A

SNV
Unknown

Chr22:26479264

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411033001

rs_2518647010

1 SubmittersRCV003461737

NM_022081.6(HPS4):c.42-2A>C

SNV
Unknown

Chr22:26479357

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411033280

rs_2518649872

1 SubmittersRCV003461738

NM_022081.6(HPS4):c.42-2A>G

SNV
Unknown

Chr22:26479357

Likely pathogenic

Hermansky-Pudlak syndrome 4
Melanoma

Criteria Provided
Single Submitter

CA411033279

rs_2518649872

2 SubmittersRCV003469840 RCV005927712

NM_022081.6(HPS4):c.669+1G>A

SNV
Unknown

Chr22:26468550

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

CA411030100

rs_776613510

1 SubmittersRCV003469841

NM_022081.6(HPS4):c.45G>A (p.Trp15Ter)

SNV
Unknown

Chr22:26479352

Pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

rs_2091014318

1 SubmittersRCV004576738

NM_022081.6(HPS4):c.44G>A (p.Trp15Ter)

SNV
Unknown

Chr22:26479353

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

rs_2518649819

1 SubmittersRCV004576741

NM_022081.6(HPS4):c.32C>G (p.Ser11Ter)

SNV
Unknown

Chr22:26481731

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

rs_2518700819

1 SubmittersRCV004576742

NM_022081.6(HPS4):c.1015G>A (p.Ala339Thr)

SNV
Germline

Chr22:26464615

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hermansky-Pudlak syndrome 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004985963 RCV005038911

NM_022081.6(HPS4):c.1847-1G>A

SNV
Germline

Chr22:26457968

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005029281

NM_022081.6(HPS4):c.1714-1G>T

SNV
Germline

Chr22:26458578

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005032783

NM_022081.6(HPS4):c.904G>T (p.Glu302Ter)

SNV
Germline

Chr22:26464726

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005032784

NM_022081.6(HPS4):c.502-1G>T

SNV
Germline

Chr22:26470814

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005032785

NM_022081.6(HPS4):c.1630T>A (p.Tyr544Asn)

SNV
Germline

Chr22:26464000

Likely pathogenic

Hermansky-Pudlak syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV006275907