HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2) Homo sapiens
Analyze
Symbol: HPS5
Name: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
RGD ID: 1323623
HGNC Page HGNC:17022
Description: Predicted to be involved in developmental pigmentation. Predicted to act upstream of or within blood coagulation and pigmentation. Located in cytosol. Part of BLOC-2 complex. Implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AIBP63; alpha integrin binding protein 63; alpha-integrin-binding protein 63; BLOC-2 complex member HPS5; BLOC2S2; Hermansky-Pudlak syndrome 5 protein; HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; KIAA1017; ruby-eye protein 2 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381118,278,670 - 18,322,174 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1118,278,668 - 18,322,198 (-)EnsemblGRCh38hg38GRCh38
GRCh371118,300,217 - 18,343,721 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,256,793 - 18,300,297 (-)NCBINCBI36Build 36hg18NCBI36
Celera1118,432,440 - 18,475,937 (-)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1117,982,720 - 18,026,234 (-)NCBIHuRef
CHM1_11118,299,692 - 18,343,209 (-)NCBICHM1_1
T2T-CHM13v2.01118,374,199 - 18,417,811 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
BLOC-2 complex  (IPI)
cytoplasm  (IBA,IEA)
cytosol  (IDA,IEA)
early endosome  (NAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Huizing M, etal., Traffic. 2004 Sep;5(9):711-22.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10094488   PMID:10231032   PMID:12168954   PMID:12477932   PMID:12548288   PMID:14702039   PMID:15030569   PMID:15489334   PMID:17301833   PMID:17365864   PMID:20301464   PMID:21124955  
PMID:21833017   PMID:21873635   PMID:21886157   PMID:23247405   PMID:23607980   PMID:24816252   PMID:25189619   PMID:25476789   PMID:26186194   PMID:26496610   PMID:26912792   PMID:27593200  
PMID:28514442   PMID:28611215   PMID:28712289   PMID:29090612   PMID:29117863   PMID:29128334   PMID:29509190   PMID:30021884   PMID:31586073   PMID:31611645   PMID:31980649   PMID:33961781  
PMID:38334954   PMID:38777146  


Genomics

Comparative Map Data
HPS5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381118,278,670 - 18,322,174 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1118,278,668 - 18,322,198 (-)EnsemblGRCh38hg38GRCh38
GRCh371118,300,217 - 18,343,721 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,256,793 - 18,300,297 (-)NCBINCBI36Build 36hg18NCBI36
Celera1118,432,440 - 18,475,937 (-)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1117,982,720 - 18,026,234 (-)NCBIHuRef
CHM1_11118,299,692 - 18,343,209 (-)NCBICHM1_1
T2T-CHM13v2.01118,374,199 - 18,417,811 (-)NCBIT2T-CHM13v2.0
Hps5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39746,409,890 - 46,445,501 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl746,409,890 - 46,445,488 (-)EnsemblGRCm39 Ensembl
GRCm38746,760,466 - 46,796,065 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl746,760,466 - 46,796,064 (-)EnsemblGRCm38mm10GRCm38
MGSCv37754,015,836 - 54,051,251 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36746,628,508 - 46,663,720 (-)NCBIMGSCv36mm8
Celera742,234,695 - 42,274,266 (-)NCBICelera
Cytogenetic Map7B3NCBI
cM Map730.56NCBI
Hps5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81106,417,902 - 106,457,220 (-)NCBIGRCr8
mRatBN7.2197,281,626 - 97,320,945 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl197,247,598 - 97,321,019 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1102,673,673 - 102,713,174 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01111,145,657 - 111,185,158 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01104,429,974 - 104,469,289 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01102,810,114 - 102,849,430 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1102,776,082 - 102,849,430 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01103,884,175 - 103,923,493 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4197,312,474 - 97,351,792 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1197,357,754 - 97,407,436 (-)NCBI
Celera191,528,631 - 91,567,765 (-)NCBICelera
Cytogenetic Map1q22NCBI
Hps5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541432,992,669 - 33,028,442 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541432,992,669 - 33,028,620 (-)NCBIChiLan1.0ChiLan1.0
HPS5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2920,589,768 - 20,636,849 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11120,550,165 - 20,597,237 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01118,313,846 - 18,357,558 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11117,991,610 - 18,042,848 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1117,999,116 - 18,042,724 (-)Ensemblpanpan1.1panPan2
HPS5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12140,725,089 - 40,770,665 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2140,726,274 - 40,770,112 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2140,205,174 - 40,250,174 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02141,849,101 - 41,894,220 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2141,849,108 - 41,893,897 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12140,841,498 - 40,886,534 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02141,030,170 - 41,075,185 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02141,407,540 - 41,452,761 (-)NCBIUU_Cfam_GSD_1.0
Hps5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494744,906,138 - 44,946,887 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936528939,793 - 981,042 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936528940,372 - 980,867 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HPS5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl240,906,806 - 40,941,944 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1240,906,785 - 40,938,847 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2243,964,119 - 44,004,090 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HPS5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1146,620,544 - 46,665,334 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl146,619,914 - 46,664,126 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038143,997,986 - 144,042,862 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hps5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247669,769,079 - 9,803,867 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247669,766,848 - 9,807,927 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HPS5
895 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_181507.2(HPS5):c.1871T>G (p.Leu624Arg) single nucleotide variant not provided [RCV003557582] Chr11:18292011 [GRCh38]
Chr11:18313558 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic
NM_181507.2(HPS5):c.2593C>T (p.Arg865Ter) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000021029]|not provided [RCV003556063] Chr11:18287659 [GRCh38]
Chr11:18309206 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2624del (p.Leu875fs) deletion Hermansky-Pudlak syndrome 5 [RCV000021030] Chr11:18287628 [GRCh38]
Chr11:18309175 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) duplication Hermansky-Pudlak syndrome 5 [RCV000021031]|not provided [RCV001851985] Chr11:18285367..18285368 [GRCh38]
Chr11:18306914..18306915 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000021032]|not provided [RCV001520026]|not specified [RCV000150824] Chr11:18281986 [GRCh38]
Chr11:18303533 [GRCh37]
Chr11:11p15.1		 pathogenic|benign|likely benign
NM_181507.2(HPS5):c.879dup (p.Lys294fs) duplication Hermansky-Pudlak syndrome 5 [RCV000021033] Chr11:18305438..18305439 [GRCh38]
Chr11:18326985..18326986 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2026_2029del (p.Val676fs) deletion Hermansky-Pudlak syndrome 5 [RCV000003302] Chr11:18291853..18291856 [GRCh38]
Chr11:18313400..18313403 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.5C>A (p.Ala2Asp) single nucleotide variant not provided [RCV000522237] Chr11:18317854 [GRCh38]
Chr11:18339401 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1 copy number loss See cases [RCV000052646] Chr11:17905089..19674505 [GRCh38]
Chr11:17926636..19696051 [GRCh37]
Chr11:17883212..19652627 [NCBI36]
Chr11:11p15.1		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_181507.2(HPS5):c.844C>T (p.His282Tyr) single nucleotide variant Inborn genetic diseases [RCV002840400] Chr11:18305474 [GRCh38]
Chr11:18327021 [GRCh37]
Chr11:18283597 [NCBI36]
Chr11:11p15.1		 uncertain significance|not provided
NC_000011.10:g.18303599C>T single nucleotide variant decreased blood alpha-hydroxyisovalerate levels [RCV000170568] Chr11:18303599 [GRCh38]
Chr11:18325146 [GRCh37]
Chr11:11p15.1		 association
NM_181507.2(HPS5):c.997G>A (p.Val333Met) single nucleotide variant not provided [RCV001302895] Chr11:18298959 [GRCh38]
Chr11:18320506 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) single nucleotide variant Abnormal bleeding [RCV001270595]|HPS5-related disorder [RCV003927672]|Hermansky-Pudlak syndrome 5 [RCV000266867]|Inborn genetic diseases [RCV002515273]|not provided [RCV000971923]|not specified [RCV000179036] Chr11:18310873 [GRCh38]
Chr11:18332420 [GRCh37]
Chr11:11p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181507.2(HPS5):c.1717del (p.Arg573fs) deletion not provided [RCV004809441] Chr11:18295087 [GRCh38]
Chr11:18316634 [GRCh37]
Chr11:11p15.1		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
NM_181507.2(HPS5):c.3058+9A>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000285739]|not provided [RCV001512210]|not specified [RCV000150825] Chr11:18283786 [GRCh38]
Chr11:18305333 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000295135]|not provided [RCV001518954]|not specified [RCV000150826] Chr11:18297633 [GRCh38]
Chr11:18319180 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.822C>A (p.Leu274=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000361523]|not provided [RCV001512211]|not specified [RCV000150827] Chr11:18306137 [GRCh38]
Chr11:18327684 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.85C>A (p.Arg29=) single nucleotide variant not provided [RCV000926380]|not specified [RCV000150828] Chr11:18317774 [GRCh38]
Chr11:18339321 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1165-15C>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000345440]|not provided [RCV001518387]|not specified [RCV000155547] Chr11:18297732 [GRCh38]
Chr11:18319279 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.1635-4C>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000323523]|not provided [RCV000879341]|not specified [RCV000215907] Chr11:18295173 [GRCh38]
Chr11:18316720 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.1785-13C>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000268416]|not provided [RCV001516607]|not specified [RCV000220806] Chr11:18292989 [GRCh38]
Chr11:18314536 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.139T>C (p.Leu47=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000386571]|not provided [RCV000962116]|not specified [RCV000222816] Chr11:18311994 [GRCh38]
Chr11:18333541 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.1511-30G>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001701919]|not provided [RCV001668614]|not specified [RCV000246082] Chr11:18296152 [GRCh38]
Chr11:18317699 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.478-18T>G single nucleotide variant not provided [RCV003765546]|not specified [RCV000243738] Chr11:18309097 [GRCh38]
Chr11:18330644 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.*5A>G single nucleotide variant not specified [RCV000253729] Chr11:18279877 [GRCh38]
Chr11:18301424 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.825-16T>C single nucleotide variant not provided [RCV001520254]|not specified [RCV000244019] Chr11:18305509 [GRCh38]
Chr11:18327056 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.1862+17A>C single nucleotide variant not provided [RCV001512528]|not specified [RCV000246500] Chr11:18292882 [GRCh38]
Chr11:18314429 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.986-5C>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000404522]|not provided [RCV001517011]|not specified [RCV000248996] Chr11:18298975 [GRCh38]
Chr11:18320522 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NM_181507.2(HPS5):c.2440+36C>T single nucleotide variant not provided [RCV001660379]|not specified [RCV000251435] Chr11:18291406 [GRCh38]
Chr11:18291406..18291407 [GRCh38]
Chr11:18312953 [GRCh37]
Chr11:18312953..18312954 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000625070]|not provided [RCV000971783]|not specified [RCV000242192] Chr11:18283808 [GRCh38]
Chr11:18305355 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.824+34A>C single nucleotide variant not provided [RCV001598644]|not specified [RCV000252432] Chr11:18306101 [GRCh38]
Chr11:18327648 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.285-10A>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000496404]|Hermansky-Pudlak syndrome [RCV004767305]|not provided [RCV001731720] Chr11:18310943 [GRCh38]
Chr11:18332490 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_181507.2(HPS5):c.1423del (p.Leu475fs) deletion Hermansky-Pudlak syndrome 5 [RCV000496925]|Hermansky-Pudlak syndrome [RCV000852025]|not provided [RCV000599122] Chr11:18296885 [GRCh38]
Chr11:18318432 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_181507.2(HPS5):c.*362G>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000300373] Chr11:18279520 [GRCh38]
Chr11:18301067 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.*475C>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000301978]|not provided [RCV004718396] Chr11:18279407 [GRCh38]
Chr11:18300954 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2838-13T>C single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000284600]|not provided [RCV003669129] Chr11:18285472 [GRCh38]
Chr11:18307019 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.1837C>A (p.Leu613Ile) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000322701]|not provided [RCV002520709] Chr11:18292924 [GRCh38]
Chr11:18314471 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1075C>T (p.Arg359Cys) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000346222]|not provided [RCV002522191] Chr11:18298881 [GRCh38]
Chr11:18320428 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.1(HPS5):c.-251C>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000284748]|not provided [RCV004718399] Chr11:18322147 [GRCh38]
Chr11:18343694 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) single nucleotide variant HPS5-related disorder [RCV003910116]|Hermansky-Pudlak syndrome 5 [RCV000763726]|not provided [RCV000911383]|not specified [RCV000606575] Chr11:18283807 [GRCh38]
Chr11:18305354 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.*1068T>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000373235]|not provided [RCV004718393] Chr11:18278814 [GRCh38]
Chr11:18300361 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) single nucleotide variant HPS5-related disorder [RCV003920252]|Hermansky-Pudlak syndrome 5 [RCV000374468]|not provided [RCV000959170]|not specified [RCV000603229] Chr11:18296807 [GRCh38]
Chr11:18318354 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000269928]|not provided [RCV002056184]|not specified [RCV001820895] Chr11:18291982 [GRCh38]
Chr11:18313529 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000273038]|not provided [RCV001514046]|not specified [RCV001820894] Chr11:18282050 [GRCh38]
Chr11:18303597 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NM_181507.2(HPS5):c.*702A>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000288898]|not provided [RCV004718395] Chr11:18279180 [GRCh38]
Chr11:18300727 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.3297C>T (p.Cys1099=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000273693]|not provided [RCV001504140] Chr11:18281982 [GRCh38]
Chr11:18303529 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.*804C>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000381193]|not provided [RCV004718394] Chr11:18279078 [GRCh38]
Chr11:18300625 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.3076G>A (p.Val1026Met) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000382621] Chr11:18282203 [GRCh38]
Chr11:18303750 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*443T>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000404926]|not provided [RCV004718398] Chr11:18279439 [GRCh38]
Chr11:18300986 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.1(HPS5):c.-250G>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000383814] Chr11:18322146 [GRCh38]
Chr11:18343693 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.1123C>G (p.Arg375Gly) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000405122] Chr11:18298833 [GRCh38]
Chr11:18320380 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2562-14G>C single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000408073]|not provided [RCV001509808]|not specified [RCV003317188] Chr11:18287704 [GRCh38]
Chr11:18309251 [GRCh37]
Chr11:11p15.1		 benign|uncertain significance
NM_181507.2(HPS5):c.1496C>T (p.Ser499Leu) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000294103]|Inborn genetic diseases [RCV004629181] Chr11:18296812 [GRCh38]
Chr11:18318359 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1549A>C (p.Lys517Gln) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000278842] Chr11:18296084 [GRCh38]
Chr11:18317631 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2441-8T>C single nucleotide variant HPS5-related disorder [RCV003957572]|Hermansky-Pudlak syndrome 5 [RCV000315557]|not provided [RCV000962115]|not specified [RCV001700047] Chr11:18288021 [GRCh38]
Chr11:18309568 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NM_181507.2(HPS5):c.309A>G (p.Glu103=) single nucleotide variant HPS5-related disorder [RCV003897691]|Hermansky-Pudlak syndrome 5 [RCV000298549]|not provided [RCV000954717]|not specified [RCV001699436] Chr11:18310909 [GRCh38]
Chr11:18332456 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NM_181507.2(HPS5):c.*464C>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000340543]|not provided [RCV004718397] Chr11:18279418 [GRCh38]
Chr11:18300965 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000278949]|not provided [RCV000949770]|not specified [RCV000614729] Chr11:18287917 [GRCh38]
Chr11:18309464 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.3259C>T (p.Leu1087=) single nucleotide variant HPS5-related disorder [RCV003977876]|Hermansky-Pudlak syndrome 5 [RCV000365245]|not provided [RCV002522190] Chr11:18282020 [GRCh38]
Chr11:18303567 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) single nucleotide variant HPS5-related disorder [RCV003967871]|Hermansky-Pudlak syndrome 5 [RCV000262803]|not provided [RCV000954455]|not specified [RCV000499655] Chr11:18311430 [GRCh38]
Chr11:18332977 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.1475T>A (p.Leu492Gln) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000392343]|not provided [RCV001850610] Chr11:18296833 [GRCh38]
Chr11:18318380 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2247A>G (p.Val749=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000367773]|not provided [RCV000914648] Chr11:18291635 [GRCh38]
Chr11:18313182 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.*70C>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000370439]|not provided [RCV004706835] Chr11:18279812 [GRCh38]
Chr11:18301359 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.*299C>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000395797]|not provided [RCV001653492] Chr11:18279583 [GRCh38]
Chr11:18301130 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.-217G>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000347887] Chr11:18322113 [GRCh38]
Chr11:18343660 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*812A>C single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000347566] Chr11:18279070 [GRCh38]
Chr11:18300617 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000373451]|not provided [RCV000927223] Chr11:18296024 [GRCh38]
Chr11:18317571 [GRCh37]
Chr11:11p15.1		 benign|uncertain significance
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs) deletion Hermansky-Pudlak syndrome 5 [RCV000495769]|Hermansky-Pudlak syndrome [RCV000851767]|not provided [RCV000318415] Chr11:18283871..18283874 [GRCh38]
Chr11:18305418..18305421 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.-64A>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000273771] Chr11:18321960 [GRCh38]
Chr11:18343507 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*300T>C single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000353008]|not provided [RCV001636866] Chr11:18279582 [GRCh38]
Chr11:18301129 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2200C>T (p.Arg734Trp) single nucleotide variant Hermansky-Pudlak syndrome [RCV000309795]|not provided [RCV001850608] Chr11:18291682 [GRCh38]
Chr11:18313229 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*1023T>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000276293] Chr11:18278859 [GRCh38]
Chr11:18300406 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1076G>A (p.Arg359His) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000310117] Chr11:18298880 [GRCh38]
Chr11:18320427 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2461G>T (p.Val821Leu) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000405589]|not provided [RCV002520708] Chr11:18287993 [GRCh38]
Chr11:18309540 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.-91C>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000333440] Chr11:18321987 [GRCh38]
Chr11:18343534 [GRCh37]
Chr11:11p15.1		 benign|uncertain significance
NM_181507.2(HPS5):c.2521G>T (p.Val841Phe) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000336336]|Inborn genetic diseases [RCV002520707]|not provided [RCV001319610] Chr11:18287933 [GRCh38]
Chr11:18309480 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.-142C>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000387963] Chr11:18322038 [GRCh38]
Chr11:18343585 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.163G>A (p.Gly55Arg) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000318021]|not provided [RCV001850611] Chr11:18311970 [GRCh38]
Chr11:18333517 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*688A>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000341798] Chr11:18279194 [GRCh38]
Chr11:18300741 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000362142]|not provided [RCV001850609] Chr11:18291738 [GRCh38]
Chr11:18313285 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*1003_*1004del deletion Hermansky-Pudlak syndrome [RCV000333820] Chr11:18278878..18278879 [GRCh38]
Chr11:18300425..18300426 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1479A>G (p.Pro493=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000348857] Chr11:18296829 [GRCh38]
Chr11:18318376 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2221ACA[1] (p.Thr742del) microsatellite Hermansky-Pudlak syndrome [RCV000403662] Chr11:18291656..18291658 [GRCh38]
Chr11:18313203..18313205 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*960T>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000385944] Chr11:18278922 [GRCh38]
Chr11:18300469 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1510+3G>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000319942] Chr11:18296795 [GRCh38]
Chr11:18318342 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*655A>C single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000407183] Chr11:18279227 [GRCh38]
Chr11:18300774 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2837+15del deletion Hermansky-Pudlak syndrome [RCV000337644] Chr11:18286576 [GRCh38]
Chr11:18308123 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.260A>T (p.Asp87Val) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000352952] Chr11:18311411 [GRCh38]
Chr11:18332958 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.1(HPS5):c.-263A>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000339733] Chr11:18322159 [GRCh38]
Chr11:18343706 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3214G>A (p.Ala1072Thr) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000325629] Chr11:18282065 [GRCh38]
Chr11:18303612 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.-197C>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000288937] Chr11:18322093 [GRCh38]
Chr11:18343640 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*956T>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000290225] Chr11:18278926 [GRCh38]
Chr11:18300473 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*182C>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000313402] Chr11:18279700 [GRCh38]
Chr11:18301247 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.825-14del deletion Hermansky-Pudlak syndrome [RCV000302060]|not provided [RCV003765792] Chr11:18305507 [GRCh38]
Chr11:18327054 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.1785-9C>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000361112] Chr11:18292985 [GRCh38]
Chr11:18314532 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2084C>T (p.Ser695Phe) single nucleotide variant not provided [RCV001857106]|not specified [RCV000501302] Chr11:18291798 [GRCh38]
Chr11:18313345 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.107del (p.Lys36fs) deletion Hermansky-Pudlak syndrome 5 [RCV000503910] Chr11:18317752 [GRCh38]
Chr11:18339299 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His) single nucleotide variant HPS5-related disorder [RCV003935290]|Hermansky-Pudlak syndrome 5 [RCV001105686]|not provided [RCV001474622]|not specified [RCV000501763] Chr11:18285431 [GRCh38]
Chr11:18306978 [GRCh37]
Chr11:11p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181507.2(HPS5):c.2370G>A (p.Ala790=) single nucleotide variant not provided [RCV002056850]|not specified [RCV000499771] Chr11:18291512 [GRCh38]
Chr11:18313059 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1892T>G (p.Phe631Cys) single nucleotide variant Inborn genetic diseases [RCV002524200]|not specified [RCV000502730] Chr11:18291990 [GRCh38]
Chr11:18313537 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3059-10G>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV002506227]|not provided [RCV003766822]|not specified [RCV000502850] Chr11:18282230 [GRCh38]
Chr11:18303777 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_181507.2(HPS5):c.2219T>C (p.Leu740Ser) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000495011] Chr11:18291663 [GRCh38]
Chr11:18313210 [GRCh37]
Chr11:11p15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs) microsatellite Hermansky-Pudlak syndrome 5 [RCV000495038] Chr11:18286677..18286678 [GRCh38]
Chr11:18308224..18308225 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.818_822del (p.Thr273fs) deletion Hermansky-Pudlak syndrome 5 [RCV000495126]|not provided [RCV001865523] Chr11:18306137..18306141 [GRCh38]
Chr11:18327684..18327688 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1900del (p.Glu634fs) deletion Hermansky-Pudlak syndrome 5 [RCV000495374] Chr11:18291982 [GRCh38]
Chr11:18313529 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000495399]|not provided [RCV002056822] Chr11:18296891 [GRCh38]
Chr11:18318438 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.219G>A (p.Arg73=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000495420] Chr11:18311914 [GRCh38]
Chr11:18333461 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.3058+3A>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000494753] Chr11:18283792 [GRCh38]
Chr11:18305339 [GRCh37]
Chr11:11p15.1		 pathogenic
11p15.1 deletion deletion Hermansky-Pudlak syndrome 5 [RCV000494784] Chr11:11p15.1 pathogenic
NM_181507.2(HPS5):c.719G>C (p.Arg240Pro) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000495446] Chr11:18306240 [GRCh38]
Chr11:18327787 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del) deletion Hermansky-Pudlak syndrome 5 [RCV000495763] Chr11:18282181..18282183 [GRCh38]
Chr11:18303728..18303730 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic
NM_181507.2(HPS5):c.240C>T (p.Val80=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000625348]|not provided [RCV000895864]|not specified [RCV001701415] Chr11:18311431 [GRCh38]
Chr11:18332978 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.2470G>A (p.Glu824Lys) single nucleotide variant not provided [RCV000514517] Chr11:18287984 [GRCh38]
Chr11:18309531 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1597C>G (p.Pro533Ala) single nucleotide variant Inborn genetic diseases [RCV003299880] Chr11:18296036 [GRCh38]
Chr11:18317583 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1690C>T (p.Pro564Ser) single nucleotide variant Inborn genetic diseases [RCV002531012]|not provided [RCV000595446] Chr11:18295114 [GRCh38]
Chr11:18316661 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1 copy number loss not provided [RCV000683355] Chr11:17527585..18606820 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.543del (p.Gln181fs) deletion Hermansky-Pudlak syndrome 5 [RCV002245658]|Hermansky-Pudlak syndrome [RCV000852157]|not provided [RCV002536614] Chr11:18309014 [GRCh38]
Chr11:18330561 [GRCh37]
Chr11:11p15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_181507.2(HPS5):c.220-63A>T single nucleotide variant not provided [RCV001724640] Chr11:18311514 [GRCh38]
Chr11:18333061 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2951+188dup duplication not provided [RCV001540970] Chr11:18285142..18285143 [GRCh38]
Chr11:18306689..18306690 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.220-77_220-76dup duplication not provided [RCV001724709] Chr11:18311511..18311512 [GRCh38]
Chr11:18333058..18333059 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.986-183C>T single nucleotide variant not provided [RCV001667478] Chr11:18299153 [GRCh38]
Chr11:18320700 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.795G>A (p.Ser265=) single nucleotide variant not provided [RCV000936291] Chr11:18306164 [GRCh38]
Chr11:18327711 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.109-10_109-9del deletion HPS5-related disorder [RCV004753092]|not provided [RCV000896266]|not specified [RCV003317398] Chr11:18312033..18312034 [GRCh38]
Chr11:18333580..18333581 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.896+254G>T single nucleotide variant not provided [RCV001552137] Chr11:18305168 [GRCh38]
Chr11:18326715 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.284+210G>T single nucleotide variant not provided [RCV001724644] Chr11:18311177 [GRCh38]
Chr11:18332724 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV000985015] Chr11:18317813 [GRCh38]
Chr11:18339360 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3217A>G (p.Met1073Val) single nucleotide variant HPS5-related disorder [RCV003908380]|not provided [RCV000879043] Chr11:18282062 [GRCh38]
Chr11:18303609 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.1500C>T (p.His500=) single nucleotide variant not provided [RCV000925990] Chr11:18296808 [GRCh38]
Chr11:18318355 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.220-9G>C single nucleotide variant not provided [RCV000925083]|not specified [RCV003479249] Chr11:18311460 [GRCh38]
Chr11:18333007 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.105A>G (p.Leu35=) single nucleotide variant not provided [RCV000915130] Chr11:18317754 [GRCh38]
Chr11:18339301 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3329+10G>A single nucleotide variant not provided [RCV000982973] Chr11:18281940 [GRCh38]
Chr11:18303487 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.615A>G (p.Glu205=) single nucleotide variant not provided [RCV000882836] Chr11:18306344 [GRCh38]
Chr11:18327891 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2538G>A (p.Pro846=) single nucleotide variant not provided [RCV000924498] Chr11:18287916 [GRCh38]
Chr11:18309463 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn) single nucleotide variant Inborn genetic diseases [RCV002542084]|not provided [RCV000905414]|not specified [RCV003479243] Chr11:18291480 [GRCh38]
Chr11:18313027 [GRCh37]
Chr11:11p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181507.2(HPS5):c.2109T>C (p.Asp703=) single nucleotide variant not provided [RCV000905415]|not specified [RCV004800633] Chr11:18291773 [GRCh38]
Chr11:18313320 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.612-8del deletion not provided [RCV000919448] Chr11:18306355 [GRCh38]
Chr11:18327902 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3378C>T (p.Ser1126=) single nucleotide variant HPS5-related disorder [RCV004753118]|not provided [RCV000924436] Chr11:18279894 [GRCh38]
Chr11:18301441 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1476G>A (p.Leu492=) single nucleotide variant HPS5-related disorder [RCV003955784]|not provided [RCV000879044] Chr11:18296832 [GRCh38]
Chr11:18318379 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1511-9A>G single nucleotide variant not provided [RCV000905300] Chr11:18296131 [GRCh38]
Chr11:18317678 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh37/hg19 11p15.1(chr11:16775884-18418719)x3 copy number gain not provided [RCV000848590] Chr11:16775884..18418719 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1549A>G (p.Lys517Glu) single nucleotide variant not provided [RCV003238956] Chr11:18296084 [GRCh38]
Chr11:18317631 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_181507.2(HPS5):c.2718-12A>G single nucleotide variant Hermansky-Pudlak syndrome [RCV000851754] Chr11:18286722 [GRCh38]
Chr11:18308269 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter) single nucleotide variant Hermansky-Pudlak syndrome [RCV000851734]|not provided [RCV003698815] Chr11:18291846 [GRCh38]
Chr11:18313393 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic
NM_181507.2(HPS5):c.2893A>C (p.Lys965Gln) single nucleotide variant Inborn genetic diseases [RCV003271330] Chr11:18285404 [GRCh38]
Chr11:18306951 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001103742] Chr11:18282022 [GRCh38]
Chr11:18303569 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1803T>C (p.Thr601=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001107458]|not provided [RCV002556103] Chr11:18292958 [GRCh38]
Chr11:18314505 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001108901]|not provided [RCV001856454] Chr11:18279908 [GRCh38]
Chr11:18301455 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.986-40T>G single nucleotide variant not provided [RCV001641875] Chr11:18299010 [GRCh38]
Chr11:18320557 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1871T>C (p.Leu624Pro) single nucleotide variant not provided [RCV001551065] Chr11:18292011 [GRCh38]
Chr11:18313558 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.220-1G>T single nucleotide variant not provided [RCV001552039] Chr11:18311452 [GRCh38]
Chr11:18332999 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic
NM_181507.2(HPS5):c.611+100dup duplication not provided [RCV001617228] Chr11:18308838..18308839 [GRCh38]
Chr11:18330385..18330386 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.824+199C>T single nucleotide variant not provided [RCV001714845] Chr11:18305936 [GRCh38]
Chr11:18327483 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1784+178dup duplication not provided [RCV001636021] Chr11:18294831..18294832 [GRCh38]
Chr11:18316378..18316379 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.824+257G>A single nucleotide variant not provided [RCV001612241] Chr11:18305878 [GRCh38]
Chr11:18327425 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.825-82A>C single nucleotide variant not provided [RCV001688753] Chr11:18305575 [GRCh38]
Chr11:18327122 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2837+98C>A single nucleotide variant not provided [RCV001710029] Chr11:18286493 [GRCh38]
Chr11:18308040 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.3329+93G>A single nucleotide variant not provided [RCV001693887] Chr11:18281857 [GRCh38]
Chr11:18303404 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.220-63_220-62insT insertion not provided [RCV001689406] Chr11:18311513..18311514 [GRCh38]
Chr11:18333060..18333061 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.219+25T>A single nucleotide variant not provided [RCV001594508] Chr11:18311889 [GRCh38]
Chr11:18333436 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2440+51T>C single nucleotide variant not provided [RCV001640024] Chr11:18291391 [GRCh38]
Chr11:18312938 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.825-208G>A single nucleotide variant not provided [RCV001617480] Chr11:18305701 [GRCh38]
Chr11:18327248 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.896+257C>T single nucleotide variant not provided [RCV001716699] Chr11:18305165 [GRCh38]
Chr11:18326712 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2037A>C (p.Ser679=) single nucleotide variant not provided [RCV000977844] Chr11:18291845 [GRCh38]
Chr11:18313392 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3229C>A (p.Arg1077=) single nucleotide variant not provided [RCV000981319] Chr11:18282050 [GRCh38]
Chr11:18303597 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1258T>C (p.Leu420=) single nucleotide variant not provided [RCV000929149] Chr11:18297624 [GRCh38]
Chr11:18319171 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.220-62AAT[7] microsatellite not provided [RCV001539521] Chr11:18311495..18311496 [GRCh38]
Chr11:18333042..18333043 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2951+203del deletion not provided [RCV001582206] Chr11:18285143 [GRCh38]
Chr11:18306690 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001106811] Chr11:18291688 [GRCh38]
Chr11:18313235 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2058A>G (p.Glu686=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001106812] Chr11:18291824 [GRCh38]
Chr11:18313371 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1032C>T (p.His344=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001106894]|not provided [RCV003769097] Chr11:18298924 [GRCh38]
Chr11:18320471 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.885C>T (p.Leu295=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001106896]|not provided [RCV003660845] Chr11:18305433 [GRCh38]
Chr11:18326980 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001106897] Chr11:18308970 [GRCh38]
Chr11:18330517 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001107459]|Inborn genetic diseases [RCV002556104]|not provided [RCV001294394] Chr11:18295035 [GRCh38]
Chr11:18316582 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1692T>C (p.Pro564=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001107460]|not provided [RCV001444416] Chr11:18295112 [GRCh38]
Chr11:18316659 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001107568]|not provided [RCV001862865] Chr11:18311942 [GRCh38]
Chr11:18333489 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2721A>G (p.Ser907=) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001105687]|not provided [RCV000890446]|not specified [RCV004689918] Chr11:18286707 [GRCh38]
Chr11:18308254 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) single nucleotide variant HPS5-related disorder [RCV003895550]|Hermansky-Pudlak syndrome 5 [RCV001105781]|Inborn genetic diseases [RCV002540853]|not provided [RCV000913149]|not specified [RCV003479245] Chr11:18296951 [GRCh38]
Chr11:18318498 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.2441-140T>C single nucleotide variant not provided [RCV001659558] Chr11:18288153 [GRCh38]
Chr11:18309700 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1785-229del deletion not provided [RCV001689342] Chr11:18293205 [GRCh38]
Chr11:18314752 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.897-82C>A single nucleotide variant not provided [RCV001566630] Chr11:18300998 [GRCh38]
Chr11:18322545 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1		 pathogenic
NM_181507.2(HPS5):c.1785-63_1785-62dup duplication not provided [RCV001651623] Chr11:18293032..18293033 [GRCh38]
Chr11:18314579..18314580 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.825-240del deletion not provided [RCV001596834] Chr11:18305733 [GRCh38]
Chr11:18327280 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.220-64_220-63insT insertion not provided [RCV001655126] Chr11:18311514..18311515 [GRCh38]
Chr11:18333061..18333062 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.985+127_985+131del deletion not provided [RCV001673531] Chr11:18300697..18300701 [GRCh38]
Chr11:18322244..18322248 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2718-211dup duplication not provided [RCV001677584] Chr11:18286910..18286911 [GRCh38]
Chr11:18308457..18308458 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2952-309C>G single nucleotide variant not provided [RCV001710787] Chr11:18284210 [GRCh38]
Chr11:18305757 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1511-195G>T single nucleotide variant not provided [RCV001637577] Chr11:18296317 [GRCh38]
Chr11:18317864 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.220-77dup duplication not provided [RCV001673943] Chr11:18311511..18311512 [GRCh38]
Chr11:18333058..18333059 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.825-279T>C single nucleotide variant not provided [RCV001678087] Chr11:18305772 [GRCh38]
Chr11:18327319 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.220-77_220-75dup duplication not provided [RCV001677305] Chr11:18311511..18311512 [GRCh38]
Chr11:18333058..18333059 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1863-171A>C single nucleotide variant not provided [RCV001677050] Chr11:18292190 [GRCh38]
Chr11:18313737 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2837+39dup duplication not provided [RCV001598792] Chr11:18286541..18286542 [GRCh38]
Chr11:18308088..18308089 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.-195A>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001103948] Chr11:18322091 [GRCh38]
Chr11:18343638 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.-82T>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001103947] Chr11:18321978 [GRCh38]
Chr11:18343525 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001105782] Chr11:18296983 [GRCh38]
Chr11:18318530 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*839T>C single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001105585] Chr11:18279043 [GRCh38]
Chr11:18300590 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001105688]|not provided [RCV001856420]|not specified [RCV003994212] Chr11:18287536 [GRCh38]
Chr11:18309083 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001105783]|not provided [RCV002555038] Chr11:18298889 [GRCh38]
Chr11:18320436 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*469A>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001106736] Chr11:18279413 [GRCh38]
Chr11:18300960 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*276T>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001108898] Chr11:18279606 [GRCh38]
Chr11:18301153 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*95C>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001108900] Chr11:18279787 [GRCh38]
Chr11:18301334 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1012A>C (p.Asn338His) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001106895]|not provided [RCV001856432] Chr11:18298944 [GRCh38]
Chr11:18320491 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001107461] Chr11:18295131 [GRCh38]
Chr11:18316678 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*1201A>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001103646] Chr11:18278681 [GRCh38]
Chr11:18300228 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2838-39A>G single nucleotide variant not provided [RCV001648834] Chr11:18285498 [GRCh38]
Chr11:18307045 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1863-191del deletion not provided [RCV001684222] Chr11:18292210 [GRCh38]
Chr11:18313757 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.3330-116A>G single nucleotide variant not provided [RCV001613939] Chr11:18280058 [GRCh38]
Chr11:18301605 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1784+318A>G single nucleotide variant not provided [RCV001614698] Chr11:18294702 [GRCh38]
Chr11:18316249 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.985+128_985+131del deletion not provided [RCV001708402] Chr11:18300697..18300700 [GRCh38]
Chr11:18322244..18322247 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2837+44T>G single nucleotide variant not provided [RCV001649006] Chr11:18286547 [GRCh38]
Chr11:18308094 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.825-284G>C single nucleotide variant not provided [RCV001710382] Chr11:18305777 [GRCh38]
Chr11:18327324 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1165-295T>C single nucleotide variant not provided [RCV001669290] Chr11:18298012 [GRCh38]
Chr11:18319559 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.220-60T>A single nucleotide variant not provided [RCV001710623] Chr11:18311511 [GRCh38]
Chr11:18333058 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2441-157_2441-155del deletion not provided [RCV001672186] Chr11:18288168..18288170 [GRCh38]
Chr11:18309715..18309717 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1164+187C>A single nucleotide variant not provided [RCV001691303] Chr11:18298605 [GRCh38]
Chr11:18320152 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.3059-223dup duplication not provided [RCV001708846] Chr11:18282431..18282432 [GRCh38]
Chr11:18303978..18303979 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1510+58C>T single nucleotide variant not provided [RCV001708885] Chr11:18296740 [GRCh38]
Chr11:18318287 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.896+211G>A single nucleotide variant not provided [RCV001684692] Chr11:18305211 [GRCh38]
Chr11:18326758 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.824+161G>A single nucleotide variant not provided [RCV001708182] Chr11:18305974 [GRCh38]
Chr11:18327521 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2837+57G>T single nucleotide variant not provided [RCV001665592] Chr11:18286534 [GRCh38]
Chr11:18308081 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001103835]|not provided [RCV001856405] Chr11:18296097 [GRCh38]
Chr11:18317644 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.-75A>G single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001103946] Chr11:18321971 [GRCh38]
Chr11:18343518 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001106893]|not provided [RCV002069756] Chr11:18298919 [GRCh38]
Chr11:18320466 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001107457]|not provided [RCV001772323] Chr11:18292956 [GRCh38]
Chr11:18314503 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.535G>A (p.Val179Ile) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001107567]|not provided [RCV001862864] Chr11:18309022 [GRCh38]
Chr11:18330569 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.*157G>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001108899] Chr11:18279725 [GRCh38]
Chr11:18301272 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.1(HPS5):c.-251C>T single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001104234] Chr11:18322147 [GRCh38]
Chr11:18343694 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
NC_000011.9:g.(?_17552691)_(19213995_?)dup duplication Progressive myoclonic epilepsy type 7 [RCV001295201] Chr11:17552691..19213995 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.896+144G>A single nucleotide variant not provided [RCV001538174] Chr11:18305278 [GRCh38]
Chr11:18326825 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.219+214C>T single nucleotide variant not provided [RCV001536392] Chr11:18311700 [GRCh38]
Chr11:18333247 [GRCh37]
Chr11:11p15.1		 benign
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_181507.2(HPS5):c.1066T>C (p.Ser356Pro) single nucleotide variant not provided [RCV001313912] Chr11:18298890 [GRCh38]
Chr11:18320437 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.323G>A (p.Arg108His) single nucleotide variant not provided [RCV001306944]|not specified [RCV003987828] Chr11:18310895 [GRCh38]
Chr11:18332442 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2272A>G (p.Ser758Gly) single nucleotide variant not provided [RCV001324476] Chr11:18291610 [GRCh38]
Chr11:18313157 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1862+87C>T single nucleotide variant not provided [RCV001539296] Chr11:18292812 [GRCh38]
Chr11:18314359 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2681T>G (p.Leu894Ter) single nucleotide variant not provided [RCV001383331] Chr11:18287571 [GRCh38]
Chr11:18309118 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1174A>T (p.Thr392Ser) single nucleotide variant not provided [RCV001357352] Chr11:18297708 [GRCh38]
Chr11:18319255 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2885A>C (p.His962Pro) single nucleotide variant not provided [RCV001321526] Chr11:18285412 [GRCh38]
Chr11:18306959 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3298G>A (p.Asp1100Asn) single nucleotide variant not provided [RCV001369610] Chr11:18281981 [GRCh38]
Chr11:18303528 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2618C>G (p.Ser873Cys) single nucleotide variant not provided [RCV001344603] Chr11:18287634 [GRCh38]
Chr11:18309181 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1784+254G>A single nucleotide variant not provided [RCV001540304] Chr11:18294766 [GRCh38]
Chr11:18316313 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1290T>A (p.Ala430=) single nucleotide variant not provided [RCV001432665] Chr11:18297592 [GRCh38]
Chr11:18319139 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1960A>T (p.Lys654Ter) single nucleotide variant not provided [RCV001385657] Chr11:18291922 [GRCh38]
Chr11:18313469 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1784+138C>T single nucleotide variant not provided [RCV001645524] Chr11:18294882 [GRCh38]
Chr11:18316429 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.896+260C>G single nucleotide variant not provided [RCV001707269] Chr11:18305162 [GRCh38]
Chr11:18326709 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.985+129_985+131del deletion not provided [RCV001613583] Chr11:18300697..18300699 [GRCh38]
Chr11:18322244..18322246 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1165-20T>C single nucleotide variant not provided [RCV001516666] Chr11:18297737 [GRCh38]
Chr11:18319284 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.824+205_824+206insGGTGG insertion not provided [RCV001649708] Chr11:18305929..18305930 [GRCh38]
Chr11:18327476..18327477 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1784+147A>G single nucleotide variant not provided [RCV001670257] Chr11:18294873 [GRCh38]
Chr11:18316420 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.284+27T>G single nucleotide variant not provided [RCV001687095] Chr11:18311360 [GRCh38]
Chr11:18332907 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.3249G>A (p.Gln1083=) single nucleotide variant not provided [RCV001471397] Chr11:18282030 [GRCh38]
Chr11:18303577 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1634+88A>T single nucleotide variant not provided [RCV001672251] Chr11:18295911 [GRCh38]
Chr11:18317458 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.219+181T>C single nucleotide variant not provided [RCV001690149] Chr11:18311733 [GRCh38]
Chr11:18333280 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1324-20del deletion not provided [RCV001522754] Chr11:18297004 [GRCh38]
Chr11:18318551 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.606T>C (p.Thr202=) single nucleotide variant not provided [RCV001503025] Chr11:18308951 [GRCh38]
Chr11:18330498 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1324-21_1324-20del deletion not provided [RCV001519585] Chr11:18297004..18297005 [GRCh38]
Chr11:18318551..18318552 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.1831C>T (p.Gln611Ter) single nucleotide variant not provided [RCV001380024] Chr11:18292930 [GRCh38]
Chr11:18314477 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1324-32dup duplication Hermansky-Pudlak syndrome 5 [RCV002506634]|not provided [RCV001522218] Chr11:18297003..18297004 [GRCh38]
Chr11:18318550..18318551 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.3118A>C (p.Ser1040Arg) single nucleotide variant not provided [RCV003108289] Chr11:18282161 [GRCh38]
Chr11:18303708 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.755G>A (p.Gly252Glu) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV002245482]|not provided [RCV003718454] Chr11:18306204 [GRCh38]
Chr11:18327751 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2131A>G (p.Arg711Gly) single nucleotide variant Inborn genetic diseases [RCV003295394] Chr11:18291751 [GRCh38]
Chr11:18313298 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.498G>A (p.Met166Ile) single nucleotide variant Inborn genetic diseases [RCV004040294]|not provided [RCV001773187] Chr11:18309059 [GRCh38]
Chr11:18330606 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2928G>A (p.Met976Ile) single nucleotide variant not provided [RCV001982666] Chr11:18285369 [GRCh38]
Chr11:18306916 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1175C>G (p.Thr392Ser) single nucleotide variant not provided [RCV001885342]|not specified [RCV001820599] Chr11:18297707 [GRCh38]
Chr11:18319254 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2441-5T>C single nucleotide variant not provided [RCV001964081] Chr11:18288018 [GRCh38]
Chr11:18309565 [GRCh37]
Chr11:11p15.1		 likely pathogenic|uncertain significance
NM_181507.2(HPS5):c.1480G>T (p.Asp494Tyr) single nucleotide variant not provided [RCV001950176] Chr11:18296828 [GRCh38]
Chr11:18318375 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2717G>A (p.Arg906Gln) single nucleotide variant not provided [RCV001971662] Chr11:18287535 [GRCh38]
Chr11:18309082 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1175C>T (p.Thr392Ile) single nucleotide variant not provided [RCV001864557] Chr11:18297707 [GRCh38]
Chr11:18319254 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3063G>A (p.Trp1021Ter) single nucleotide variant not provided [RCV001949584] Chr11:18282216 [GRCh38]
Chr11:18303763 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2135_2137del (p.Ser712_Pro713delinsThr) deletion not provided [RCV001970612] Chr11:18291745..18291747 [GRCh38]
Chr11:18313292..18313294 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.615A>T (p.Glu205Asp) single nucleotide variant not provided [RCV001928968] Chr11:18306344 [GRCh38]
Chr11:18327891 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.73C>T (p.Leu25Phe) single nucleotide variant not provided [RCV002008914] Chr11:18317786 [GRCh38]
Chr11:18339333 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1786G>A (p.Glu596Lys) single nucleotide variant not provided [RCV002044661] Chr11:18292975 [GRCh38]
Chr11:18314522 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV002490281]|not provided [RCV001928443] Chr11:18310895 [GRCh38]
Chr11:18332442 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2631G>A (p.Ser877=) single nucleotide variant not provided [RCV001872334] Chr11:18287621 [GRCh38]
Chr11:18309168 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3329G>A (p.Arg1110Lys) single nucleotide variant not provided [RCV001970566] Chr11:18281950 [GRCh38]
Chr11:18303497 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1490G>C (p.Cys497Ser) single nucleotide variant not provided [RCV001874180] Chr11:18296818 [GRCh38]
Chr11:18318365 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV002482442]|Inborn genetic diseases [RCV004616793]|not provided [RCV002044983] Chr11:18291942 [GRCh38]
Chr11:18313489 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3017T>C (p.Ile1006Thr) single nucleotide variant not provided [RCV001971123] Chr11:18283836 [GRCh38]
Chr11:18305383 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg) single nucleotide variant HPS5-related disorder [RCV003911107]|Hermansky-Pudlak syndrome 5 [RCV002491961]|Inborn genetic diseases [RCV004041859]|not provided [RCV001948305] Chr11:18291746 [GRCh38]
Chr11:18313293 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1751G>A (p.Ser584Asn) single nucleotide variant not provided [RCV001914001] Chr11:18295053 [GRCh38]
Chr11:18316600 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3043A>G (p.Met1015Val) single nucleotide variant not provided [RCV001895840] Chr11:18283810 [GRCh38]
Chr11:18305357 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2125T>C (p.Cys709Arg) single nucleotide variant not provided [RCV001929650] Chr11:18291757 [GRCh38]
Chr11:18313304 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.179A>G (p.Gln60Arg) single nucleotide variant Inborn genetic diseases [RCV004042243]|not provided [RCV001970955] Chr11:18311954 [GRCh38]
Chr11:18333501 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.439G>A (p.Val147Ile) single nucleotide variant not provided [RCV001894455] Chr11:18310779 [GRCh38]
Chr11:18332326 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.907G>A (p.Val303Met) single nucleotide variant Inborn genetic diseases [RCV003348771]|not provided [RCV002024427] Chr11:18300906 [GRCh38]
Chr11:18322453 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.964CTT[1] (p.Leu323del) microsatellite not provided [RCV002040170] Chr11:18300844..18300846 [GRCh38]
Chr11:18322391..18322393 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3080A>C (p.Glu1027Ala) single nucleotide variant not provided [RCV002020371] Chr11:18282199 [GRCh38]
Chr11:18303746 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1405T>C (p.Ser469Pro) single nucleotide variant not provided [RCV001968212] Chr11:18296903 [GRCh38]
Chr11:18318450 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3013A>G (p.Asn1005Asp) single nucleotide variant not provided [RCV001966191] Chr11:18283840 [GRCh38]
Chr11:18305387 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.128C>T (p.Ser43Phe) single nucleotide variant not provided [RCV001945483] Chr11:18312005 [GRCh38]
Chr11:18333552 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3256G>A (p.Gly1086Ser) single nucleotide variant not provided [RCV001969115] Chr11:18282023 [GRCh38]
Chr11:18303570 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.229A>G (p.Ile77Val) single nucleotide variant Inborn genetic diseases [RCV004041090]|not provided [RCV001889794] Chr11:18311442 [GRCh38]
Chr11:18332989 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1967T>C (p.Phe656Ser) single nucleotide variant Inborn genetic diseases [RCV003365468]|not provided [RCV002042093] Chr11:18291915 [GRCh38]
Chr11:18313462 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2561G>A (p.Arg854Gln) single nucleotide variant not provided [RCV001893166] Chr11:18287893 [GRCh38]
Chr11:18309440 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2521G>A (p.Val841Ile) single nucleotide variant Inborn genetic diseases [RCV003382781]|not provided [RCV001983901] Chr11:18287933 [GRCh38]
Chr11:18309480 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.905G>A (p.Cys302Tyr) single nucleotide variant Inborn genetic diseases [RCV002560655]|not provided [RCV001967385]|not specified [RCV004587260] Chr11:18300908 [GRCh38]
Chr11:18322455 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.335C>T (p.Pro112Leu) single nucleotide variant not provided [RCV001912288] Chr11:18310883 [GRCh38]
Chr11:18332430 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2243A>T (p.Asn748Ile) single nucleotide variant not provided [RCV001909503] Chr11:18291639 [GRCh38]
Chr11:18313186 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1461_1462delinsAA (p.Gln488Lys) indel not provided [RCV002041793] Chr11:18296846..18296847 [GRCh38]
Chr11:18318393..18318394 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2789T>G (p.Leu930Arg) single nucleotide variant Inborn genetic diseases [RCV004046926]|not provided [RCV002043506] Chr11:18286639 [GRCh38]
Chr11:18308186 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1616_1617del (p.Leu539fs) deletion not provided [RCV001913628] Chr11:18296016..18296017 [GRCh38]
Chr11:18317563..18317564 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1463A>C (p.Gln488Pro) single nucleotide variant not provided [RCV001969871] Chr11:18296845 [GRCh38]
Chr11:18318392 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1459C>G (p.Gln487Glu) single nucleotide variant not provided [RCV001895635] Chr11:18296849 [GRCh38]
Chr11:18318396 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1652G>A (p.Arg551His) single nucleotide variant not provided [RCV001928258]|not specified [RCV003490936] Chr11:18295152 [GRCh38]
Chr11:18316699 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1001C>T (p.Ala334Val) single nucleotide variant not provided [RCV001966511] Chr11:18298955 [GRCh38]
Chr11:18320502 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.403A>G (p.Ile135Val) single nucleotide variant Inborn genetic diseases [RCV002560554]|not provided [RCV001964622] Chr11:18310815 [GRCh38]
Chr11:18332362 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.130C>T (p.Arg44Trp) single nucleotide variant not provided [RCV001985426] Chr11:18312003 [GRCh38]
Chr11:18333550 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1517T>C (p.Val506Ala) single nucleotide variant not provided [RCV002042427] Chr11:18296116 [GRCh38]
Chr11:18317663 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.240C>A (p.Val80=) single nucleotide variant HPS5-related disorder [RCV003978452]|not provided [RCV001986228] Chr11:18311431 [GRCh38]
Chr11:18332978 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.889C>T (p.His297Tyr) single nucleotide variant not provided [RCV001890058] Chr11:18305429 [GRCh38]
Chr11:18326976 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.85C>T (p.Arg29Trp) single nucleotide variant Inborn genetic diseases [RCV004042604]|not provided [RCV001927645] Chr11:18317774 [GRCh38]
Chr11:18339321 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1862+1G>A single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV001823686]|not provided [RCV003669248] Chr11:18292898 [GRCh38]
Chr11:18314445 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.1124G>C (p.Arg375Pro) single nucleotide variant not provided [RCV001968728] Chr11:18298832 [GRCh38]
Chr11:18320379 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1999A>G (p.Met667Val) single nucleotide variant not provided [RCV002041889] Chr11:18291883 [GRCh38]
Chr11:18313430 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1123C>T (p.Arg375Cys) single nucleotide variant not provided [RCV001908391] Chr11:18298833 [GRCh38]
Chr11:18320380 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2078G>T (p.Arg693Met) single nucleotide variant not provided [RCV002042657] Chr11:18291804 [GRCh38]
Chr11:18313351 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3365G>A (p.Arg1122Gln) single nucleotide variant Inborn genetic diseases [RCV002608040]|not provided [RCV001986233] Chr11:18279907 [GRCh38]
Chr11:18301454 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.86G>A (p.Arg29Gln) single nucleotide variant not provided [RCV001975288] Chr11:18317773 [GRCh38]
Chr11:18339320 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1463A>G (p.Gln488Arg) single nucleotide variant not provided [RCV002050739] Chr11:18296845 [GRCh38]
Chr11:18318392 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1717A>G (p.Arg573Gly) single nucleotide variant not provided [RCV001887717] Chr11:18295087 [GRCh38]
Chr11:18316634 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2291C>G (p.Thr764Ser) single nucleotide variant not provided [RCV002000842] Chr11:18291591 [GRCh38]
Chr11:18313138 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV002492279]|Inborn genetic diseases [RCV002592664]|not provided [RCV001980832]|not specified [RCV004782849] Chr11:18298936 [GRCh38]
Chr11:18320483 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3226G>A (p.Asp1076Asn) single nucleotide variant Inborn genetic diseases [RCV004631784]|not provided [RCV001886480] Chr11:18282053 [GRCh38]
Chr11:18303600 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18301429)_(18307026_?)del deletion not provided [RCV001941375] Chr11:18301429..18307026 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.683G>A (p.Cys228Tyr) single nucleotide variant not provided [RCV001887785] Chr11:18306276 [GRCh38]
Chr11:18327823 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.520A>G (p.Thr174Ala) single nucleotide variant not provided [RCV001918181] Chr11:18309037 [GRCh38]
Chr11:18330584 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.863A>C (p.Gln288Pro) single nucleotide variant not provided [RCV002000495] Chr11:18305455 [GRCh38]
Chr11:18327002 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2177C>T (p.Pro726Leu) single nucleotide variant not provided [RCV001942804] Chr11:18291705 [GRCh38]
Chr11:18313252 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.113C>T (p.Thr38Met) single nucleotide variant not provided [RCV001941046] Chr11:18312020 [GRCh38]
Chr11:18333567 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1034T>C (p.Leu345Pro) single nucleotide variant not provided [RCV001930173] Chr11:18298922 [GRCh38]
Chr11:18320469 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3175C>G (p.Pro1059Ala) single nucleotide variant not provided [RCV001958495] Chr11:18282104 [GRCh38]
Chr11:18303651 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.782A>G (p.Lys261Arg) single nucleotide variant Inborn genetic diseases [RCV004044498]|not provided [RCV001997751] Chr11:18306177 [GRCh38]
Chr11:18327724 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1411C>T (p.His471Tyr) single nucleotide variant Inborn genetic diseases [RCV002553492]|not provided [RCV001875255] Chr11:18296897 [GRCh38]
Chr11:18318444 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1511-5A>G single nucleotide variant not provided [RCV001999427] Chr11:18296127 [GRCh38]
Chr11:18317674 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.1674C>T (p.Gly558=) single nucleotide variant not provided [RCV001979785] Chr11:18295130 [GRCh38]
Chr11:18316677 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.865T>A (p.Ser289Thr) single nucleotide variant Inborn genetic diseases [RCV002557851]|not provided [RCV001943522] Chr11:18305453 [GRCh38]
Chr11:18327000 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2327A>G (p.Gln776Arg) single nucleotide variant not provided [RCV001955200] Chr11:18291555 [GRCh38]
Chr11:18313102 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2374G>A (p.Glu792Lys) single nucleotide variant Inborn genetic diseases [RCV004631916]|not provided [RCV002017275] Chr11:18291508 [GRCh38]
Chr11:18313055 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1333A>C (p.Ser445Arg) single nucleotide variant not provided [RCV001993407] Chr11:18296975 [GRCh38]
Chr11:18318522 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2117C>T (p.Ala706Val) single nucleotide variant not provided [RCV002031438] Chr11:18291765 [GRCh38]
Chr11:18313312 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1880C>G (p.Pro627Arg) single nucleotide variant Inborn genetic diseases [RCV004046251]|not provided [RCV002016167] Chr11:18292002 [GRCh38]
Chr11:18313549 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1730A>C (p.Gln577Pro) single nucleotide variant not provided [RCV001880321] Chr11:18295074 [GRCh38]
Chr11:18316621 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1454C>T (p.Thr485Ile) single nucleotide variant not provided [RCV001878780] Chr11:18296854 [GRCh38]
Chr11:18318401 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2438A>G (p.Lys813Arg) single nucleotide variant Inborn genetic diseases [RCV002555376]|not provided [RCV001901784] Chr11:18291444 [GRCh38]
Chr11:18312991 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2992AGA[2] (p.Arg1000del) microsatellite not provided [RCV001954356] Chr11:18283853..18283855 [GRCh38]
Chr11:18305400..18305402 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3317A>C (p.Glu1106Ala) single nucleotide variant Inborn genetic diseases [RCV002555664]|not provided [RCV001935276] Chr11:18281962 [GRCh38]
Chr11:18303509 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1693G>A (p.Asp565Asn) single nucleotide variant not provided [RCV002047171] Chr11:18295111 [GRCh38]
Chr11:18316658 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2686A>G (p.Ser896Gly) single nucleotide variant not provided [RCV001954810] Chr11:18287566 [GRCh38]
Chr11:18309113 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1685C>T (p.Thr562Met) single nucleotide variant not provided [RCV002029967] Chr11:18295119 [GRCh38]
Chr11:18316666 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1220A>G (p.His407Arg) single nucleotide variant not provided [RCV002012029] Chr11:18297662 [GRCh38]
Chr11:18319209 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2792A>T (p.Asp931Val) single nucleotide variant not provided [RCV001881149] Chr11:18286636 [GRCh38]
Chr11:18308183 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1379G>T (p.Gly460Val) single nucleotide variant not provided [RCV001931695]|not specified [RCV002222746] Chr11:18296929 [GRCh38]
Chr11:18318476 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3122C>T (p.Thr1041Met) single nucleotide variant not provided [RCV002011134] Chr11:18282157 [GRCh38]
Chr11:18303704 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu) single nucleotide variant HPS5-related disorder [RCV003913440]|Hermansky-Pudlak syndrome 5 [RCV002484421]|Inborn genetic diseases [RCV004042723]|not provided [RCV001916014] Chr11:18287929 [GRCh38]
Chr11:18309476 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.131G>A (p.Arg44Gln) single nucleotide variant not provided [RCV001904133]|not specified [RCV003479356] Chr11:18312002 [GRCh38]
Chr11:18333549 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.460A>G (p.Thr154Ala) single nucleotide variant not provided [RCV001930827] Chr11:18310758 [GRCh38]
Chr11:18332305 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.719G>A (p.Arg240His) single nucleotide variant not provided [RCV002012812] Chr11:18306240 [GRCh38]
Chr11:18327787 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2387T>C (p.Leu796Pro) single nucleotide variant not provided [RCV001870242] Chr11:18291495 [GRCh38]
Chr11:18313042 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3014A>G (p.Asn1005Ser) single nucleotide variant not provided [RCV001920456] Chr11:18283839 [GRCh38]
Chr11:18305386 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.611+6T>C single nucleotide variant not provided [RCV002018238] Chr11:18308940 [GRCh38]
Chr11:18330487 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1017A>C (p.Glu339Asp) single nucleotide variant Inborn genetic diseases [RCV002563433]|not provided [RCV001955734] Chr11:18298939 [GRCh38]
Chr11:18320486 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.101G>A (p.Arg34His) single nucleotide variant not provided [RCV001907502] Chr11:18317758 [GRCh38]
Chr11:18339305 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.896+2T>C single nucleotide variant not provided [RCV002031892] Chr11:18305420 [GRCh38]
Chr11:18326967 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.434G>A (p.Gly145Glu) single nucleotide variant not provided [RCV001979528] Chr11:18310784 [GRCh38]
Chr11:18332331 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2201G>A (p.Arg734Gln) single nucleotide variant Inborn genetic diseases [RCV004616868]|not provided [RCV001925830] Chr11:18291681 [GRCh38]
Chr11:18313228 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.1088G>A (p.Arg363His) single nucleotide variant not provided [RCV001971839] Chr11:18298868 [GRCh38]
Chr11:18320415 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1785-3T>C single nucleotide variant not provided [RCV002029917] Chr11:18292979 [GRCh38]
Chr11:18314526 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1127C>T (p.Thr376Ile) single nucleotide variant not provided [RCV001956997]|not specified [RCV003479378] Chr11:18298829 [GRCh38]
Chr11:18320376 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.322C>T (p.Arg108Cys) single nucleotide variant not provided [RCV001992987] Chr11:18310896 [GRCh38]
Chr11:18332443 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2369C>T (p.Ala790Val) single nucleotide variant Inborn genetic diseases [RCV002545685]|not provided [RCV002051391] Chr11:18291513 [GRCh38]
Chr11:18313060 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.824+6G>A single nucleotide variant not provided [RCV001959490] Chr11:18306129 [GRCh38]
Chr11:18327676 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2658T>G (p.His886Gln) single nucleotide variant not provided [RCV002051470] Chr11:18287594 [GRCh38]
Chr11:18309141 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2294T>C (p.Leu765Ser) single nucleotide variant not provided [RCV001900201] Chr11:18291588 [GRCh38]
Chr11:18313135 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1635T>C (p.Ser545=) single nucleotide variant not provided [RCV001976329] Chr11:18295169 [GRCh38]
Chr11:18316716 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2002A>G (p.Lys668Glu) single nucleotide variant not provided [RCV001905679] Chr11:18291880 [GRCh38]
Chr11:18313427 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.718C>T (p.Arg240Cys) single nucleotide variant Inborn genetic diseases [RCV002555355]|not provided [RCV001901546] Chr11:18306241 [GRCh38]
Chr11:18327788 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.547G>A (p.Asp183Asn) single nucleotide variant not provided [RCV001996824] Chr11:18309010 [GRCh38]
Chr11:18330557 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1862+2dup duplication not provided [RCV001905119] Chr11:18292896..18292897 [GRCh38]
Chr11:18314443..18314444 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.451A>G (p.Lys151Glu) single nucleotide variant not provided [RCV001866928] Chr11:18310767 [GRCh38]
Chr11:18332314 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1754C>T (p.Ser585Leu) single nucleotide variant Inborn genetic diseases [RCV004631842]|not provided [RCV001960046] Chr11:18295050 [GRCh38]
Chr11:18316597 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.361C>T (p.His121Tyr) single nucleotide variant not provided [RCV001939987] Chr11:18310857 [GRCh38]
Chr11:18332404 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1511A>G (p.Asp504Gly) single nucleotide variant not provided [RCV001938906] Chr11:18296122 [GRCh38]
Chr11:18317669 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2140A>G (p.Arg714Gly) single nucleotide variant not provided [RCV001959633] Chr11:18291742 [GRCh38]
Chr11:18313289 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1487_1488dup (p.Cys497fs) microsatellite not provided [RCV001950851] Chr11:18296819..18296820 [GRCh38]
Chr11:18318366..18318367 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2179T>C (p.Cys727Arg) single nucleotide variant not provided [RCV001907293] Chr11:18291703 [GRCh38]
Chr11:18313250 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2794G>T (p.Ala932Ser) single nucleotide variant not provided [RCV001884328] Chr11:18286634 [GRCh38]
Chr11:18308181 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.253C>T (p.His85Tyr) single nucleotide variant not provided [RCV002047072] Chr11:18311418 [GRCh38]
Chr11:18332965 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2077del (p.Arg693fs) deletion Hermansky-Pudlak syndrome 5 [RCV002503556]|not provided [RCV001903712] Chr11:18291805 [GRCh38]
Chr11:18313352 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic
NM_181507.2(HPS5):c.1514A>G (p.Asn505Ser) single nucleotide variant not provided [RCV001916862]|not specified [RCV003987936] Chr11:18296119 [GRCh38]
Chr11:18317666 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.1600T>C (p.Ser534Pro) single nucleotide variant not provided [RCV001974953] Chr11:18296033 [GRCh38]
Chr11:18317580 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1305A>C (p.Arg435Ser) single nucleotide variant not provided [RCV001901021] Chr11:18297577 [GRCh38]
Chr11:18319124 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3097C>T (p.Leu1033Phe) single nucleotide variant Inborn genetic diseases [RCV002573435]|not provided [RCV001977707] Chr11:18282182 [GRCh38]
Chr11:18303729 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV002486695]|Inborn genetic diseases [RCV002548188]|not provided [RCV002016683] Chr11:18291816 [GRCh38]
Chr11:18313363 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1163G>A (p.Arg388Lys) single nucleotide variant not provided [RCV002030223] Chr11:18298793 [GRCh38]
Chr11:18320340 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3159C>T (p.Leu1053=) single nucleotide variant not provided [RCV002106010] Chr11:18282120 [GRCh38]
Chr11:18303667 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1165-17C>T single nucleotide variant not provided [RCV002146023] Chr11:18297734 [GRCh38]
Chr11:18319281 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1323+17T>A single nucleotide variant not provided [RCV002185117] Chr11:18297542 [GRCh38]
Chr11:18319089 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1710A>G (p.Pro570=) single nucleotide variant not provided [RCV002191725] Chr11:18295094 [GRCh38]
Chr11:18316641 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1212G>A (p.Gln404=) single nucleotide variant not provided [RCV002169418] Chr11:18297670 [GRCh38]
Chr11:18319217 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.612-15C>G single nucleotide variant not provided [RCV002190761] Chr11:18306362 [GRCh38]
Chr11:18327909 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2718-18dup duplication not provided [RCV002124732] Chr11:18286727..18286728 [GRCh38]
Chr11:18308274..18308275 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1339T>C (p.Leu447=) single nucleotide variant not provided [RCV002208852] Chr11:18296969 [GRCh38]
Chr11:18318516 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.96C>T (p.Ser32=) single nucleotide variant not provided [RCV002185716] Chr11:18317763 [GRCh38]
Chr11:18339310 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3018T>C (p.Ile1006=) single nucleotide variant HPS5-related disorder [RCV003893150]|not provided [RCV002185030] Chr11:18283835 [GRCh38]
Chr11:18305382 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.336G>A (p.Pro112=) single nucleotide variant not provided [RCV002167063] Chr11:18310882 [GRCh38]
Chr11:18332429 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2952-14C>T single nucleotide variant not provided [RCV002125931] Chr11:18283915 [GRCh38]
Chr11:18305462 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.285-4G>C single nucleotide variant not provided [RCV002188671] Chr11:18310937 [GRCh38]
Chr11:18332484 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.582T>C (p.Leu194=) single nucleotide variant HPS5-related disorder [RCV003968701]|not provided [RCV002089848]|not specified [RCV004801141] Chr11:18308975 [GRCh38]
Chr11:18330522 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.1165-16G>A single nucleotide variant not provided [RCV002210494]|not specified [RCV004770423] Chr11:18297733 [GRCh38]
Chr11:18319280 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.896+11A>T single nucleotide variant not provided [RCV002147825] Chr11:18305411 [GRCh38]
Chr11:18326958 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1164+15A>C single nucleotide variant not provided [RCV002128116]|not specified [RCV004782888] Chr11:18298777 [GRCh38]
Chr11:18320324 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.897-20C>T single nucleotide variant not provided [RCV002169537] Chr11:18300936 [GRCh38]
Chr11:18322483 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3329+19A>G single nucleotide variant not provided [RCV002185948] Chr11:18281931 [GRCh38]
Chr11:18303478 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.986-15C>T single nucleotide variant not provided [RCV002153045] Chr11:18298985 [GRCh38]
Chr11:18320532 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1047C>T (p.Val349=) single nucleotide variant not provided [RCV002151625] Chr11:18298909 [GRCh38]
Chr11:18320456 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.284+7A>G single nucleotide variant not provided [RCV002187507] Chr11:18311380 [GRCh38]
Chr11:18332927 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1906C>T (p.Leu636=) single nucleotide variant not provided [RCV002188828] Chr11:18291976 [GRCh38]
Chr11:18313523 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1323+18T>C single nucleotide variant not provided [RCV002174616] Chr11:18297541 [GRCh38]
Chr11:18319088 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.93C>T (p.Asp31=) single nucleotide variant not provided [RCV002212004] Chr11:18317766 [GRCh38]
Chr11:18339313 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2877G>A (p.Leu959=) single nucleotide variant not provided [RCV002105589] Chr11:18285420 [GRCh38]
Chr11:18306967 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1863-20T>A single nucleotide variant not provided [RCV002133719] Chr11:18292039 [GRCh38]
Chr11:18313586 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2730T>G (p.Leu910=) single nucleotide variant not provided [RCV002134098] Chr11:18286698 [GRCh38]
Chr11:18308245 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3141G>A (p.Glu1047=) single nucleotide variant not provided [RCV002194657] Chr11:18282138 [GRCh38]
Chr11:18303685 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2952-4A>G single nucleotide variant not provided [RCV002195996] Chr11:18283905 [GRCh38]
Chr11:18305452 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1324-19dup duplication not provided [RCV002079946] Chr11:18297002..18297003 [GRCh38]
Chr11:18318549..18318550 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3075C>T (p.Thr1025=) single nucleotide variant not provided [RCV002109551] Chr11:18282204 [GRCh38]
Chr11:18303751 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3360C>T (p.Cys1120=) single nucleotide variant not provided [RCV002151819] Chr11:18279912 [GRCh38]
Chr11:18301459 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1452C>T (p.Phe484=) single nucleotide variant not provided [RCV002152966] Chr11:18296856 [GRCh38]
Chr11:18318403 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1511-10C>G single nucleotide variant not provided [RCV002116472] Chr11:18296132 [GRCh38]
Chr11:18317679 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2561+8G>A single nucleotide variant not provided [RCV002196707] Chr11:18287885 [GRCh38]
Chr11:18309432 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1165-13G>A single nucleotide variant not provided [RCV002193399] Chr11:18297730 [GRCh38]
Chr11:18319277 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2717+19T>A single nucleotide variant not provided [RCV002153061] Chr11:18287516 [GRCh38]
Chr11:18309063 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1164+17C>G single nucleotide variant not provided [RCV002150708] Chr11:18298775 [GRCh38]
Chr11:18320322 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1599A>G (p.Pro533=) single nucleotide variant not provided [RCV002211756] Chr11:18296034 [GRCh38]
Chr11:18317581 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1862+17A>G single nucleotide variant not provided [RCV002131444] Chr11:18292882 [GRCh38]
Chr11:18314429 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2664T>G (p.Ala888=) single nucleotide variant not provided [RCV002150838] Chr11:18287588 [GRCh38]
Chr11:18309135 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.284+13T>A single nucleotide variant not provided [RCV002121004]|not specified [RCV004782887] Chr11:18311374 [GRCh38]
Chr11:18332921 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.168C>T (p.Leu56=) single nucleotide variant not provided [RCV002119297] Chr11:18311965 [GRCh38]
Chr11:18333512 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.288A>G (p.Gln96=) single nucleotide variant not provided [RCV002176024] Chr11:18310930 [GRCh38]
Chr11:18332477 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.824+13A>G single nucleotide variant not provided [RCV002202383] Chr11:18306122 [GRCh38]
Chr11:18327669 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.981C>A (p.Val327=) single nucleotide variant not provided [RCV002142181] Chr11:18300832 [GRCh38]
Chr11:18322379 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.1324-19G>T single nucleotide variant not provided [RCV002181074] Chr11:18297003 [GRCh38]
Chr11:18318550 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1080T>C (p.Cys360=) single nucleotide variant not provided [RCV002083423] Chr11:18298876 [GRCh38]
Chr11:18320423 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1098A>G (p.Arg366=) single nucleotide variant not provided [RCV002163606] Chr11:18298858 [GRCh38]
Chr11:18320405 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2169A>G (p.Ile723Met) single nucleotide variant not specified [RCV002223008] Chr11:18291713 [GRCh38]
Chr11:18313260 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.220-5T>C single nucleotide variant not provided [RCV002203145] Chr11:18311456 [GRCh38]
Chr11:18333003 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1164+11G>A single nucleotide variant not provided [RCV002182423] Chr11:18298781 [GRCh38]
Chr11:18320328 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1237C>T (p.Leu413=) single nucleotide variant not provided [RCV002139399] Chr11:18297645 [GRCh38]
Chr11:18319192 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2838-10C>T single nucleotide variant not provided [RCV002140777] Chr11:18285469 [GRCh38]
Chr11:18307016 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1635-13A>G single nucleotide variant not provided [RCV002156471] Chr11:18295182 [GRCh38]
Chr11:18316729 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1107A>G (p.Leu369=) single nucleotide variant HPS5-related disorder [RCV003923749]|not provided [RCV002121805] Chr11:18298849 [GRCh38]
Chr11:18320396 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3159C>G (p.Leu1053=) single nucleotide variant not provided [RCV002136561] Chr11:18282120 [GRCh38]
Chr11:18303667 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1324-19del deletion not provided [RCV002136520] Chr11:18297003 [GRCh38]
Chr11:18318550 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.958C>G (p.Gln320Glu) single nucleotide variant HPS5-related disorder [RCV003958756]|not provided [RCV002136729] Chr11:18300855 [GRCh38]
Chr11:18322402 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.985+8T>C single nucleotide variant not provided [RCV002176485] Chr11:18300820 [GRCh38]
Chr11:18322367 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2005T>C (p.Leu669=) single nucleotide variant not provided [RCV002082621] Chr11:18291877 [GRCh38]
Chr11:18313424 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2946T>G (p.Ser982=) single nucleotide variant not provided [RCV002177345] Chr11:18285351 [GRCh38]
Chr11:18306898 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2182G>A (p.Ala728Thr) single nucleotide variant HPS5-related disorder [RCV003923506]|Inborn genetic diseases [RCV004045569]|not provided [RCV002200058]|not specified [RCV004690237] Chr11:18291700 [GRCh38]
Chr11:18313247 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1510+15T>C single nucleotide variant not provided [RCV002081698] Chr11:18296783 [GRCh38]
Chr11:18318330 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.896+15dup duplication not provided [RCV002143472]|not specified [RCV004801168] Chr11:18305406..18305407 [GRCh38]
Chr11:18326953..18326954 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_181507.2(HPS5):c.2980T>C (p.Leu994=) single nucleotide variant not provided [RCV002177884] Chr11:18283873 [GRCh38]
Chr11:18305420 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3041T>A (p.Leu1014Gln) single nucleotide variant HPS5-related disorder [RCV003951197]|Inborn genetic diseases [RCV003053457]|not provided [RCV002123449] Chr11:18283812 [GRCh38]
Chr11:18305359 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_181507.2(HPS5):c.109-16C>T single nucleotide variant not provided [RCV002181525] Chr11:18312040 [GRCh38]
Chr11:18333587 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.220-19A>G single nucleotide variant not provided [RCV002184034] Chr11:18311470 [GRCh38]
Chr11:18333017 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2619C>T (p.Ser873=) single nucleotide variant not provided [RCV002082645] Chr11:18287633 [GRCh38]
Chr11:18309180 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2043G>A (p.Lys681=) single nucleotide variant not provided [RCV002144211] Chr11:18291839 [GRCh38]
Chr11:18313386 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1040G>A (p.Gly347Glu) single nucleotide variant not provided [RCV003112377] Chr11:18298916 [GRCh38]
Chr11:18320463 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2518G>A (p.Glu840Lys) single nucleotide variant not provided [RCV003116944] Chr11:18287936 [GRCh38]
Chr11:18309483 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2988G>C (p.Leu996=) single nucleotide variant not provided [RCV003116145] Chr11:18283865 [GRCh38]
Chr11:18305412 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.149G>A (p.Gly50Asp) single nucleotide variant not provided [RCV003112212] Chr11:18311984 [GRCh38]
Chr11:18333531 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18301429)_(18428828_?)dup duplication Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003116391] Chr11:18301429..18428828 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.478-2A>G single nucleotide variant Hermansky-Pudlak syndrome [RCV003230859]|not provided [RCV003699051] Chr11:18309081 [GRCh38]
Chr11:18330628 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.2838-139T>G single nucleotide variant not provided [RCV002286143] Chr11:18285598 [GRCh38]
Chr11:18285598..18285599 [GRCh38]
Chr11:18307145 [GRCh37]
Chr11:18307145..18307146 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NC_000011.9:g.(?_18300216)_(18307007_18308137)del deletion not specified [RCV002282954] Chr11:18300216..18307007 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.220-58_220-57insAAA insertion not provided [RCV002286271] Chr11:18311508..18311509 [GRCh38]
Chr11:18333055..18333056 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.370C>T (p.Arg124Ter) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV002264887]|not provided [RCV003774831] Chr11:18310848 [GRCh38]
Chr11:18332395 [GRCh37]
Chr11:11p15.1		 pathogenic|uncertain significance
NM_181507.2(HPS5):c.406C>G (p.Leu136Val) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV002264886] Chr11:18310812 [GRCh38]
Chr11:18332359 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2837+1G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV002282953]|not provided [RCV003096348] Chr11:18286590 [GRCh38]
Chr11:18308137 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.326G>A (p.Arg109His) single nucleotide variant Inborn genetic diseases [RCV003262816] Chr11:18310892 [GRCh38]
Chr11:18332439 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3 copy number gain not provided [RCV002474599] Chr11:17784556..18797650 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2714A>T (p.Gln905Leu) single nucleotide variant not provided [RCV003012085] Chr11:18287538 [GRCh38]
Chr11:18309085 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1510+9T>C single nucleotide variant not provided [RCV002837668] Chr11:18296789 [GRCh38]
Chr11:18318336 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2068A>C (p.Lys690Gln) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV002470610] Chr11:18291814 [GRCh38]
Chr11:18313361 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2241G>C (p.Leu747Phe) single nucleotide variant not provided [RCV002295902] Chr11:18291641 [GRCh38]
Chr11:18313188 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.397A>G (p.Thr133Ala) single nucleotide variant not provided [RCV002299456] Chr11:18310821 [GRCh38]
Chr11:18332368 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1295G>C (p.Ser432Thr) single nucleotide variant not provided [RCV002298307] Chr11:18297587 [GRCh38]
Chr11:18319134 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3346A>G (p.Met1116Val) single nucleotide variant not specified [RCV002302598] Chr11:18279926 [GRCh38]
Chr11:18301473 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1447G>T (p.Glu483Ter) single nucleotide variant not provided [RCV002861606] Chr11:18296861 [GRCh38]
Chr11:18318408 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1323+1G>C single nucleotide variant not provided [RCV002881550] Chr11:18297558 [GRCh38]
Chr11:18319105 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.3330-17T>C single nucleotide variant not provided [RCV003013721] Chr11:18279959 [GRCh38]
Chr11:18301506 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3173C>T (p.Ser1058Phe) single nucleotide variant not provided [RCV002838424] Chr11:18282106 [GRCh38]
Chr11:18303653 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.794C>T (p.Ser265Leu) single nucleotide variant not provided [RCV002616068] Chr11:18306165 [GRCh38]
Chr11:18327712 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2475G>A (p.Met825Ile) single nucleotide variant Inborn genetic diseases [RCV002840192] Chr11:18287979 [GRCh38]
Chr11:18309526 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1388C>T (p.Ser463Leu) single nucleotide variant Inborn genetic diseases [RCV002861160] Chr11:18296920 [GRCh38]
Chr11:18318467 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1511-19dup duplication not provided [RCV002726405] Chr11:18296140..18296141 [GRCh38]
Chr11:18317687..18317688 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.3330-19C>A single nucleotide variant not provided [RCV002880478] Chr11:18279961 [GRCh38]
Chr11:18301508 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.347A>G (p.Tyr116Cys) single nucleotide variant not provided [RCV002774866] Chr11:18310871 [GRCh38]
Chr11:18332418 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.586C>T (p.Arg196Ter) single nucleotide variant not provided [RCV002843776] Chr11:18308971 [GRCh38]
Chr11:18330518 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.3091C>A (p.Leu1031Ile) single nucleotide variant not provided [RCV002636226] Chr11:18282188 [GRCh38]
Chr11:18303735 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.970T>C (p.Trp324Arg) single nucleotide variant not provided [RCV002726746] Chr11:18300843 [GRCh38]
Chr11:18322390 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2654A>C (p.His885Pro) single nucleotide variant not provided [RCV002726807] Chr11:18287598 [GRCh38]
Chr11:18309145 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1785-15del deletion not provided [RCV002908299] Chr11:18292991 [GRCh38]
Chr11:18314538 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2594G>A (p.Arg865Gln) single nucleotide variant not provided [RCV003017561] Chr11:18287658 [GRCh38]
Chr11:18309205 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2142G>C (p.Arg714Ser) single nucleotide variant not provided [RCV002511363] Chr11:18291740 [GRCh38]
Chr11:18313287 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2436G>C (p.Leu812Phe) single nucleotide variant not provided [RCV002618763] Chr11:18291446 [GRCh38]
Chr11:18312993 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.477+16A>G single nucleotide variant not provided [RCV002754955] Chr11:18310725 [GRCh38]
Chr11:18332272 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2115A>G (p.Thr705=) single nucleotide variant not provided [RCV003034599] Chr11:18291767 [GRCh38]
Chr11:18313314 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2837+17C>T single nucleotide variant not provided [RCV002843259] Chr11:18286574 [GRCh38]
Chr11:18308121 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3135C>G (p.Pro1045=) single nucleotide variant not provided [RCV002617146] Chr11:18282144 [GRCh38]
Chr11:18303691 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3330-8G>A single nucleotide variant not provided [RCV002995043] Chr11:18279950 [GRCh38]
Chr11:18301497 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.513A>G (p.Thr171=) single nucleotide variant not provided [RCV003016518] Chr11:18309044 [GRCh38]
Chr11:18330591 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3333C>T (p.Ala1111=) single nucleotide variant not provided [RCV002862491] Chr11:18279939 [GRCh38]
Chr11:18301486 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1664A>C (p.Glu555Ala) single nucleotide variant not provided [RCV003032629] Chr11:18295140 [GRCh38]
Chr11:18316687 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1899C>T (p.Ser633=) single nucleotide variant not provided [RCV002617428] Chr11:18291983 [GRCh38]
Chr11:18313530 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2837+16T>A single nucleotide variant not provided [RCV002755175] Chr11:18286575 [GRCh38]
Chr11:18308122 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2952-9T>C single nucleotide variant not provided [RCV002871454] Chr11:18283910 [GRCh38]
Chr11:18305457 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3019G>A (p.Val1007Met) single nucleotide variant not provided [RCV003018085] Chr11:18283834 [GRCh38]
Chr11:18305381 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2717+6A>G single nucleotide variant not provided [RCV002622980]|not specified [RCV003988017] Chr11:18287529 [GRCh38]
Chr11:18309076 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2864G>A (p.Gly955Asp) single nucleotide variant not provided [RCV002735924] Chr11:18285433 [GRCh38]
Chr11:18306980 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1181C>T (p.Thr394Ile) single nucleotide variant not provided [RCV002953550] Chr11:18297701 [GRCh38]
Chr11:18319248 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1511-13T>G single nucleotide variant not provided [RCV002572181] Chr11:18296135 [GRCh38]
Chr11:18317682 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.937A>G (p.Ile313Val) single nucleotide variant not provided [RCV003055526] Chr11:18300876 [GRCh38]
Chr11:18322423 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1651C>T (p.Arg551Cys) single nucleotide variant not provided [RCV002786040] Chr11:18295153 [GRCh38]
Chr11:18316700 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1033C>T (p.Leu345=) single nucleotide variant not provided [RCV002927909] Chr11:18298923 [GRCh38]
Chr11:18320470 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.823A>G (p.Arg275Gly) single nucleotide variant not provided [RCV002923445] Chr11:18306136 [GRCh38]
Chr11:18327683 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2028T>C (p.Val676=) single nucleotide variant not provided [RCV002591869] Chr11:18291854 [GRCh38]
Chr11:18313401 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2718-2A>T single nucleotide variant not provided [RCV002796656] Chr11:18286712 [GRCh38]
Chr11:18308259 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.549T>C (p.Asp183=) single nucleotide variant not provided [RCV002705489] Chr11:18309008 [GRCh38]
Chr11:18330555 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1165-1G>A single nucleotide variant not provided [RCV002847677] Chr11:18297718 [GRCh38]
Chr11:18319265 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.721C>A (p.Pro241Thr) single nucleotide variant not provided [RCV002796679] Chr11:18306238 [GRCh38]
Chr11:18327785 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2822A>T (p.Asp941Val) single nucleotide variant not provided [RCV002636605] Chr11:18286606 [GRCh38]
Chr11:18308153 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1510+8A>G single nucleotide variant not provided [RCV002785320] Chr11:18296790 [GRCh38]
Chr11:18318337 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.220-2A>G single nucleotide variant not provided [RCV002913163] Chr11:18311453 [GRCh38]
Chr11:18333000 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.285-12C>G single nucleotide variant not provided [RCV002847859] Chr11:18310945 [GRCh38]
Chr11:18332492 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2630C>T (p.Ser877Leu) single nucleotide variant not provided [RCV002619551] Chr11:18287622 [GRCh38]
Chr11:18309169 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1528C>T (p.Pro510Ser) single nucleotide variant not provided [RCV002658733] Chr11:18296105 [GRCh38]
Chr11:18317652 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.706A>G (p.Ile236Val) single nucleotide variant not provided [RCV003020208] Chr11:18306253 [GRCh38]
Chr11:18327800 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2852T>C (p.Leu951Ser) single nucleotide variant not provided [RCV003038966] Chr11:18285445 [GRCh38]
Chr11:18306992 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2952-13G>A single nucleotide variant not provided [RCV002706095] Chr11:18283914 [GRCh38]
Chr11:18305461 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.300T>A (p.Val100=) single nucleotide variant not provided [RCV002847548] Chr11:18310918 [GRCh38]
Chr11:18332465 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.955G>A (p.Val319Ile) single nucleotide variant not provided [RCV002953192] Chr11:18300858 [GRCh38]
Chr11:18322405 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3123G>A (p.Thr1041=) single nucleotide variant not provided [RCV003054448] Chr11:18282156 [GRCh38]
Chr11:18303703 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2493A>G (p.Pro831=) single nucleotide variant not provided [RCV002847992] Chr11:18287961 [GRCh38]
Chr11:18309508 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.156A>G (p.Ser52=) single nucleotide variant not provided [RCV002694847] Chr11:18311977 [GRCh38]
Chr11:18333524 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.219+10A>T single nucleotide variant not provided [RCV003080713] Chr11:18311904 [GRCh38]
Chr11:18333451 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.551A>T (p.Tyr184Phe) single nucleotide variant Inborn genetic diseases [RCV002822807] Chr11:18309006 [GRCh38]
Chr11:18330553 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.83T>C (p.Leu28Pro) single nucleotide variant not provided [RCV003018850] Chr11:18317776 [GRCh38]
Chr11:18339323 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2585C>G (p.Ser862Cys) single nucleotide variant Inborn genetic diseases [RCV002737720] Chr11:18287667 [GRCh38]
Chr11:18309214 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.220-14C>T single nucleotide variant not provided [RCV002795830] Chr11:18311465 [GRCh38]
Chr11:18333012 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.514A>G (p.Ile172Val) single nucleotide variant Inborn genetic diseases [RCV003080847]|not provided [RCV003080848] Chr11:18309043 [GRCh38]
Chr11:18330590 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1785-19A>G single nucleotide variant not provided [RCV002846154] Chr11:18292995 [GRCh38]
Chr11:18314542 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1008T>C (p.Cys336=) single nucleotide variant not provided [RCV003025595] Chr11:18298948 [GRCh38]
Chr11:18320495 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2460T>G (p.Pro820=) single nucleotide variant not provided [RCV003042631] Chr11:18287994 [GRCh38]
Chr11:18309541 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3058+14A>G single nucleotide variant not provided [RCV002596861] Chr11:18283781 [GRCh38]
Chr11:18305328 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1728G>A (p.Glu576=) single nucleotide variant not provided [RCV003025770] Chr11:18295076 [GRCh38]
Chr11:18316623 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2046A>G (p.Gly682=) single nucleotide variant not provided [RCV002701026] Chr11:18291836 [GRCh38]
Chr11:18313383 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2911A>G (p.Ile971Val) single nucleotide variant not provided [RCV002933276] Chr11:18285386 [GRCh38]
Chr11:18306933 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2762T>C (p.Leu921Ser) single nucleotide variant not provided [RCV003025232] Chr11:18286666 [GRCh38]
Chr11:18308213 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2750A>G (p.Glu917Gly) single nucleotide variant not provided [RCV003026088] Chr11:18286678 [GRCh38]
Chr11:18308225 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1385A>G (p.Gln462Arg) single nucleotide variant not provided [RCV002595901] Chr11:18296923 [GRCh38]
Chr11:18318470 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.896+15del deletion not provided [RCV002643223] Chr11:18305407 [GRCh38]
Chr11:18326954 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2090G>T (p.Gly697Val) single nucleotide variant Inborn genetic diseases [RCV002915793] Chr11:18291792 [GRCh38]
Chr11:18313339 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2952-10C>T single nucleotide variant not provided [RCV002593843] Chr11:18283911 [GRCh38]
Chr11:18305458 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.733A>G (p.Met245Val) single nucleotide variant not provided [RCV003024056] Chr11:18306226 [GRCh38]
Chr11:18327773 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3234T>G (p.Ala1078=) single nucleotide variant not provided [RCV002957621] Chr11:18282045 [GRCh38]
Chr11:18303592 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1194G>A (p.Leu398=) single nucleotide variant not provided [RCV002872614] Chr11:18297688 [GRCh38]
Chr11:18319235 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.528C>T (p.Asp176=) single nucleotide variant not provided [RCV002786233] Chr11:18309029 [GRCh38]
Chr11:18330576 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1232A>G (p.Asn411Ser) single nucleotide variant not provided [RCV002573666] Chr11:18297650 [GRCh38]
Chr11:18319197 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.172C>T (p.Leu58Phe) single nucleotide variant Inborn genetic diseases [RCV003365784]|not provided [RCV002711215] Chr11:18311961 [GRCh38]
Chr11:18333508 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.357A>G (p.Ser119=) single nucleotide variant not provided [RCV002890743] Chr11:18310861 [GRCh38]
Chr11:18332408 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2915C>G (p.Thr972Ser) single nucleotide variant not provided [RCV002594023] Chr11:18285382 [GRCh38]
Chr11:18306929 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2440+9C>T single nucleotide variant not provided [RCV002876436] Chr11:18291433 [GRCh38]
Chr11:18312980 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2013G>A (p.Gln671=) single nucleotide variant not provided [RCV002890275] Chr11:18291869 [GRCh38]
Chr11:18313416 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.358G>A (p.Glu120Lys) single nucleotide variant not provided [RCV003041997] Chr11:18310860 [GRCh38]
Chr11:18332407 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.478-6T>C single nucleotide variant not provided [RCV002894358] Chr11:18309085 [GRCh38]
Chr11:18330632 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1033C>G (p.Leu345Val) single nucleotide variant not provided [RCV002573916] Chr11:18298923 [GRCh38]
Chr11:18320470 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1634+1G>A single nucleotide variant not provided [RCV003058292] Chr11:18295998 [GRCh38]
Chr11:18317545 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.3058+19G>A single nucleotide variant not provided [RCV002801868] Chr11:18283776 [GRCh38]
Chr11:18305323 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.428A>G (p.His143Arg) single nucleotide variant not provided [RCV002828411] Chr11:18310790 [GRCh38]
Chr11:18332337 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3330-18T>A single nucleotide variant not provided [RCV002790538] Chr11:18279960 [GRCh38]
Chr11:18301507 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.557A>T (p.Asp186Val) single nucleotide variant not provided [RCV003024006] Chr11:18309000 [GRCh38]
Chr11:18330547 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2114C>G (p.Thr705Arg) single nucleotide variant not provided [RCV003025342] Chr11:18291768 [GRCh38]
Chr11:18313315 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.477+4A>G single nucleotide variant not provided [RCV002958128] Chr11:18310737 [GRCh38]
Chr11:18332284 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2204A>G (p.Asn735Ser) single nucleotide variant not provided [RCV002625793] Chr11:18291678 [GRCh38]
Chr11:18313225 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.423T>G (p.Gly141=) single nucleotide variant not provided [RCV002801233] Chr11:18310795 [GRCh38]
Chr11:18332342 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2974C>G (p.Leu992Val) single nucleotide variant not provided [RCV002746069] Chr11:18283879 [GRCh38]
Chr11:18305426 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2791G>C (p.Asp931His) single nucleotide variant not provided [RCV002833544] Chr11:18286637 [GRCh38]
Chr11:18308184 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3072G>C (p.Glu1024Asp) single nucleotide variant not provided [RCV002720516] Chr11:18282207 [GRCh38]
Chr11:18303754 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.825-1G>A single nucleotide variant not provided [RCV002967223] Chr11:18305494 [GRCh38]
Chr11:18327041 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.3059-16C>T single nucleotide variant not provided [RCV002631111] Chr11:18282236 [GRCh38]
Chr11:18303783 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.224G>C (p.Gly75Ala) single nucleotide variant not provided [RCV003044068] Chr11:18311447 [GRCh38]
Chr11:18332994 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.285-19T>C single nucleotide variant not provided [RCV003047605] Chr11:18310952 [GRCh38]
Chr11:18332499 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2379T>C (p.Ser793=) single nucleotide variant not provided [RCV003049411] Chr11:18291503 [GRCh38]
Chr11:18313050 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2964A>C (p.Gly988=) single nucleotide variant not provided [RCV003048535] Chr11:18283889 [GRCh38]
Chr11:18305436 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.657T>C (p.Tyr219=) single nucleotide variant not provided [RCV002834348] Chr11:18306302 [GRCh38]
Chr11:18327849 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1087C>T (p.Arg363Cys) single nucleotide variant not provided [RCV003060260] Chr11:18298869 [GRCh38]
Chr11:18320416 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.317A>C (p.Gln106Pro) single nucleotide variant not provided [RCV002646259] Chr11:18310901 [GRCh38]
Chr11:18332448 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1784+13A>G single nucleotide variant not provided [RCV002600211] Chr11:18295007 [GRCh38]
Chr11:18316554 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2404C>T (p.Pro802Ser) single nucleotide variant not provided [RCV002576928] Chr11:18291478 [GRCh38]
Chr11:18313025 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2458C>G (p.Pro820Ala) single nucleotide variant Inborn genetic diseases [RCV002919872] Chr11:18287996 [GRCh38]
Chr11:18309543 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2394C>T (p.Tyr798=) single nucleotide variant not provided [RCV002933552] Chr11:18291488 [GRCh38]
Chr11:18313035 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1784+15A>G single nucleotide variant not provided [RCV002597480] Chr11:18295005 [GRCh38]
Chr11:18316552 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2869A>T (p.Ser957Cys) single nucleotide variant not provided [RCV002988691] Chr11:18285428 [GRCh38]
Chr11:18306975 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2613T>C (p.Phe871=) single nucleotide variant not provided [RCV002578104] Chr11:18287639 [GRCh38]
Chr11:18309186 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2440+2T>C single nucleotide variant not provided [RCV002580906] Chr11:18291440 [GRCh38]
Chr11:18312987 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.1129T>C (p.Cys377Arg) single nucleotide variant not provided [RCV002600933] Chr11:18298827 [GRCh38]
Chr11:18320374 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.538G>A (p.Val180Ile) single nucleotide variant not provided [RCV002631593] Chr11:18309019 [GRCh38]
Chr11:18330566 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.825-18G>T single nucleotide variant not provided [RCV002576710] Chr11:18305511 [GRCh38]
Chr11:18327058 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.868T>G (p.Leu290Val) single nucleotide variant Inborn genetic diseases [RCV002960235] Chr11:18305450 [GRCh38]
Chr11:18326997 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2737C>T (p.Leu913Phe) single nucleotide variant not provided [RCV002578712] Chr11:18286691 [GRCh38]
Chr11:18308238 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.972G>C (p.Trp324Cys) single nucleotide variant Inborn genetic diseases [RCV002718353] Chr11:18300841 [GRCh38]
Chr11:18322388 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1752T>C (p.Ser584=) single nucleotide variant not provided [RCV003047831] Chr11:18295052 [GRCh38]
Chr11:18316599 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.803C>G (p.Pro268Arg) single nucleotide variant not provided [RCV002577615] Chr11:18306156 [GRCh38]
Chr11:18327703 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.360A>G (p.Glu120=) single nucleotide variant not provided [RCV002630937] Chr11:18310858 [GRCh38]
Chr11:18332405 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2232T>A (p.Cys744Ter) single nucleotide variant not provided [RCV002631381] Chr11:18291650 [GRCh38]
Chr11:18313197 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.153T>C (p.Ser51=) single nucleotide variant not provided [RCV002814613] Chr11:18311980 [GRCh38]
Chr11:18333527 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2531A>C (p.Asp844Ala) single nucleotide variant not provided [RCV002635646] Chr11:18287923 [GRCh38]
Chr11:18309470 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1946A>C (p.Lys649Thr) single nucleotide variant not provided [RCV002721686] Chr11:18291936 [GRCh38]
Chr11:18313483 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.220G>A (p.Glu74Lys) single nucleotide variant not provided [RCV002582683] Chr11:18311451 [GRCh38]
Chr11:18332998 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2468T>C (p.Met823Thr) single nucleotide variant not provided [RCV003052431] Chr11:18287986 [GRCh38]
Chr11:18309533 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.325C>T (p.Arg109Cys) single nucleotide variant not provided [RCV002606402] Chr11:18310893 [GRCh38]
Chr11:18332440 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1587A>G (p.Pro529=) single nucleotide variant not provided [RCV003072548] Chr11:18296046 [GRCh38]
Chr11:18317593 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1188T>C (p.Asp396=) single nucleotide variant not provided [RCV002608319] Chr11:18297694 [GRCh38]
Chr11:18319241 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1062G>A (p.Leu354=) single nucleotide variant not provided [RCV002608320] Chr11:18298894 [GRCh38]
Chr11:18320441 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2205C>T (p.Asn735=) single nucleotide variant not provided [RCV002583035] Chr11:18291677 [GRCh38]
Chr11:18313224 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.2094T>C (p.Asn698=) single nucleotide variant not provided [RCV002603836] Chr11:18291788 [GRCh38]
Chr11:18313335 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1723G>A (p.Asp575Asn) single nucleotide variant not provided [RCV002608402] Chr11:18295081 [GRCh38]
Chr11:18316628 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1260G>T (p.Leu420Phe) single nucleotide variant not provided [RCV002588985] Chr11:18297622 [GRCh38]
Chr11:18319169 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2264A>G (p.Lys755Arg) single nucleotide variant not provided [RCV002608542] Chr11:18291618 [GRCh38]
Chr11:18313165 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.477+10A>G single nucleotide variant not provided [RCV002587081] Chr11:18310731 [GRCh38]
Chr11:18332278 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2318T>C (p.Leu773Pro) single nucleotide variant not provided [RCV002585244] Chr11:18291564 [GRCh38]
Chr11:18313111 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1570T>C (p.Phe524Leu) single nucleotide variant not provided [RCV002589138] Chr11:18296063 [GRCh38]
Chr11:18317610 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2152G>A (p.Asp718Asn) single nucleotide variant Inborn genetic diseases [RCV002679666] Chr11:18291730 [GRCh38]
Chr11:18313277 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.927_928del (p.Gly310fs) microsatellite Hermansky-Pudlak syndrome 5 [RCV004797362] Chr11:18300885..18300886 [GRCh38]
Chr11:18322432..18322433 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV003131154] Chr11:18291587 [GRCh38]
Chr11:18313134 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2561+6T>C single nucleotide variant not provided [RCV003777353]|not specified [RCV003324281] Chr11:18287887 [GRCh38]
Chr11:18309434 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1581A>G (p.Pro527=) single nucleotide variant not provided [RCV003872645] Chr11:18296052 [GRCh38]
Chr11:18317599 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2168T>C (p.Ile723Thr) single nucleotide variant HPS5-related disorder [RCV003397549] Chr11:18291714 [GRCh38]
Chr11:18313261 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.405T>C (p.Ile135=) single nucleotide variant not provided [RCV003569753] Chr11:18310813 [GRCh38]
Chr11:18332360 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.801A>C (p.Pro267=) single nucleotide variant not provided [RCV003873617] Chr11:18306158 [GRCh38]
Chr11:18327705 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.807C>G (p.Leu269=) single nucleotide variant not provided [RCV003874996] Chr11:18306152 [GRCh38]
Chr11:18327699 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2295G>A (p.Leu765=) single nucleotide variant not provided [RCV003875667] Chr11:18291587 [GRCh38]
Chr11:18313134 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.611+14C>G single nucleotide variant not provided [RCV003570200] Chr11:18308932 [GRCh38]
Chr11:18330479 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2448A>G (p.Ala816=) single nucleotide variant not provided [RCV003570981] Chr11:18288006 [GRCh38]
Chr11:18309553 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1533G>A (p.Val511=) single nucleotide variant not provided [RCV003779292]|not specified [RCV003490852] Chr11:18296100 [GRCh38]
Chr11:18317647 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.815_822del (p.Ile272fs) deletion not provided [RCV003872757] Chr11:18306137..18306144 [GRCh38]
Chr11:18327684..18327691 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2837+5A>C single nucleotide variant not provided [RCV003571897] Chr11:18286586 [GRCh38]
Chr11:18308133 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.398del (p.Thr133fs) deletion not provided [RCV003569353] Chr11:18310820 [GRCh38]
Chr11:18332367 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1422C>T (p.Thr474=) single nucleotide variant not provided [RCV003543053] Chr11:18296886 [GRCh38]
Chr11:18318433 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.611+1G>A single nucleotide variant not provided [RCV003569575] Chr11:18308945 [GRCh38]
Chr11:18330492 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.108+10T>C single nucleotide variant not provided [RCV003569695] Chr11:18317741 [GRCh38]
Chr11:18339288 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1842A>G (p.Lys614=) single nucleotide variant not provided [RCV003543383] Chr11:18292919 [GRCh38]
Chr11:18314466 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2375del (p.Glu792fs) deletion HPS5-related disorder [RCV003391366]|not provided [RCV003730574] Chr11:18291507 [GRCh38]
Chr11:18313054 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic
NM_181507.2(HPS5):c.760G>T (p.Val254Phe) single nucleotide variant HPS5-related disorder [RCV003402647] Chr11:18306199 [GRCh38]
Chr11:18327746 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2659C>A (p.Pro887Thr) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV003388254] Chr11:18287593 [GRCh38]
Chr11:18309140 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2952-1G>C single nucleotide variant HPS5-related disorder [RCV003393146] Chr11:18283902 [GRCh38]
Chr11:18305449 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.333A>T (p.Lys111Asn) single nucleotide variant not provided [RCV003397970] Chr11:18310885 [GRCh38]
Chr11:18332432 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2403C>T (p.Ser801=) single nucleotide variant not provided [RCV003579483] Chr11:18291479 [GRCh38]
Chr11:18313026 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2217A>G (p.Glu739=) single nucleotide variant not provided [RCV003579152] Chr11:18291665 [GRCh38]
Chr11:18313212 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2139A>G (p.Pro713=) single nucleotide variant not provided [RCV003578183] Chr11:18291743 [GRCh38]
Chr11:18313290 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.285-10A>T single nucleotide variant not provided [RCV003693388] Chr11:18310943 [GRCh38]
Chr11:18332490 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2517C>T (p.Asp839=) single nucleotide variant not provided [RCV003881614] Chr11:18287937 [GRCh38]
Chr11:18309484 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1634+7C>T single nucleotide variant not provided [RCV003827321] Chr11:18295992 [GRCh38]
Chr11:18317539 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2931A>G (p.Thr977=) single nucleotide variant not provided [RCV003826050] Chr11:18285366 [GRCh38]
Chr11:18306913 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1109G>A (p.Trp370Ter) single nucleotide variant not provided [RCV003544872] Chr11:18298847 [GRCh38]
Chr11:18320394 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1511-17C>T single nucleotide variant not provided [RCV003827366] Chr11:18296139 [GRCh38]
Chr11:18317686 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.612-7A>T single nucleotide variant not provided [RCV003830800] Chr11:18306354 [GRCh38]
Chr11:18327901 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2837+19T>G single nucleotide variant not provided [RCV003579170] Chr11:18286572 [GRCh38]
Chr11:18308119 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1657del (p.Thr553fs) deletion not provided [RCV003716367] Chr11:18295147 [GRCh38]
Chr11:18316694 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2951+8A>G single nucleotide variant not provided [RCV003547796] Chr11:18285338 [GRCh38]
Chr11:18306885 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1324-20_1324-19del deletion not provided [RCV003692612] Chr11:18297003..18297004 [GRCh38]
Chr11:18318550..18318551 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.618G>A (p.Lys206=) single nucleotide variant not provided [RCV003579342] Chr11:18306341 [GRCh38]
Chr11:18327888 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1460_1463dup (p.Glu489fs) duplication not provided [RCV003696649] Chr11:18296844..18296845 [GRCh38]
Chr11:18318391..18318392 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.109-8G>A single nucleotide variant not provided [RCV003692723] Chr11:18312032 [GRCh38]
Chr11:18333579 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.825-6T>C single nucleotide variant not provided [RCV003849332] Chr11:18305499 [GRCh38]
Chr11:18327046 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.666_674delinsCATACTTGCATAATTGTTTTTTTGACTTGGGATTTTAAGTTGAAAGGTGCAACAATTTGGCTAAACTTAGAAACCACTGGAATGTTTAAGAACTTAACATTTATTATATTTAAAACTTAGTCCCAGTTGCTCTGGAGGCTGAAGTGGGAGGATTGCTTGAGCCGGAGTTAGAGGCTGCAGTGAGCCATGATCTGTGCCACTACACTCCAGCCTCATATTTTAAAAATAAAAAAGCTGATGATGTTGTGGAAAGTCCTCAAATAGCCCAAGTATCGAGACCATCCTGGATAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAATAAGAAAGACCTGAACCAGGACAGGGAAAAACAGCTAATGGAATTTATGAAGCAGGTTGACCT (p.Phe223_Pro225delinsIleLeuAlaTer) indel not provided [RCV003543915] Chr11:18306285..18306293 [GRCh38]
Chr11:18327832..18327840 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1165-6del deletion not provided [RCV003693817] Chr11:18297723 [GRCh38]
Chr11:18319270 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.258T>C (p.Asp86=) single nucleotide variant not provided [RCV003695112] Chr11:18311413 [GRCh38]
Chr11:18332960 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1893T>C (p.Phe631=) single nucleotide variant not provided [RCV003831897] Chr11:18291989 [GRCh38]
Chr11:18313536 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3315T>C (p.Ala1105=) single nucleotide variant not provided [RCV003573435] Chr11:18281964 [GRCh38]
Chr11:18303511 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2718-2A>C single nucleotide variant not provided [RCV003687973] Chr11:18286712 [GRCh38]
Chr11:18308259 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1209T>C (p.Ser403=) single nucleotide variant not provided [RCV003696287] Chr11:18297673 [GRCh38]
Chr11:18319220 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2952-20C>T single nucleotide variant not provided [RCV003579462] Chr11:18283921 [GRCh38]
Chr11:18305468 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1784+1G>A single nucleotide variant not provided [RCV003687945] Chr11:18295019 [GRCh38]
Chr11:18316566 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.3066C>T (p.Ile1022=) single nucleotide variant not provided [RCV003882361] Chr11:18282213 [GRCh38]
Chr11:18303760 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.195G>A (p.Lys65=) single nucleotide variant not provided [RCV003544812] Chr11:18311938 [GRCh38]
Chr11:18333485 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1875G>A (p.Gln625=) single nucleotide variant not provided [RCV003695381] Chr11:18292007 [GRCh38]
Chr11:18313554 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2951+5G>C single nucleotide variant not provided [RCV003695338] Chr11:18285341 [GRCh38]
Chr11:18306888 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2297A>G (p.Gln766Arg) single nucleotide variant not provided [RCV003545425] Chr11:18291585 [GRCh38]
Chr11:18313132 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1164+16C>T single nucleotide variant not provided [RCV003825218] Chr11:18298776 [GRCh38]
Chr11:18320323 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2691G>C (p.Leu897=) single nucleotide variant not provided [RCV003577000] Chr11:18287561 [GRCh38]
Chr11:18309108 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2561+15AT[3] microsatellite not provided [RCV003686805] Chr11:18287874..18287875 [GRCh38]
Chr11:18309421..18309422 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1158C>T (p.Ala386=) single nucleotide variant not provided [RCV003716375] Chr11:18298798 [GRCh38]
Chr11:18320345 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1015G>T (p.Glu339Ter) single nucleotide variant not provided [RCV003691312] Chr11:18298941 [GRCh38]
Chr11:18320488 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.3288C>G (p.Thr1096=) single nucleotide variant not provided [RCV003574680] Chr11:18281991 [GRCh38]
Chr11:18303538 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.108+10T>A single nucleotide variant not provided [RCV003547348] Chr11:18317741 [GRCh38]
Chr11:18339288 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.220-21_220-20del deletion not provided [RCV003693403] Chr11:18311471..18311472 [GRCh38]
Chr11:18333018..18333019 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.285-20C>G single nucleotide variant not provided [RCV003662337] Chr11:18310953 [GRCh38]
Chr11:18332500 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1634+2T>C single nucleotide variant not provided [RCV003661810] Chr11:18295997 [GRCh38]
Chr11:18317544 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.2758_2759del (p.Arg920fs) deletion not provided [RCV003574051] Chr11:18286669..18286670 [GRCh38]
Chr11:18308216..18308217 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.354T>C (p.Ser118=) single nucleotide variant not provided [RCV003693889] Chr11:18310864 [GRCh38]
Chr11:18332411 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1324-10T>C single nucleotide variant not provided [RCV003713238] Chr11:18296994 [GRCh38]
Chr11:18318541 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1270_1271insA (p.Phe424fs) insertion not provided [RCV003877278] Chr11:18297611..18297612 [GRCh38]
Chr11:18319158..18319159 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1511-20T>C single nucleotide variant not provided [RCV003572724] Chr11:18296142 [GRCh38]
Chr11:18317689 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1179G>A (p.Leu393=) single nucleotide variant not provided [RCV003661788] Chr11:18297703 [GRCh38]
Chr11:18319250 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2713C>T (p.Gln905Ter) single nucleotide variant not provided [RCV003575593] Chr11:18287539 [GRCh38]
Chr11:18309086 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2332C>T (p.Leu778=) single nucleotide variant not provided [RCV003714230] Chr11:18291550 [GRCh38]
Chr11:18313097 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2520G>A (p.Glu840=) single nucleotide variant not provided [RCV003739674] Chr11:18287934 [GRCh38]
Chr11:18309481 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1596T>G (p.Ser532=) single nucleotide variant not provided [RCV003688117] Chr11:18296037 [GRCh38]
Chr11:18317584 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2440+14T>G single nucleotide variant not provided [RCV003830708] Chr11:18291428 [GRCh38]
Chr11:18312975 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3329+3A>G single nucleotide variant not provided [RCV003573732] Chr11:18281947 [GRCh38]
Chr11:18303494 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1510+12G>A single nucleotide variant not provided [RCV003547690] Chr11:18296786 [GRCh38]
Chr11:18318333 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3330-14C>A single nucleotide variant not provided [RCV003830444] Chr11:18279956 [GRCh38]
Chr11:18301503 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.825-1G>T single nucleotide variant not provided [RCV003691910] Chr11:18305494 [GRCh38]
Chr11:18327041 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.3387C>T (p.Ala1129=) single nucleotide variant not provided [RCV003695370] Chr11:18279885 [GRCh38]
Chr11:18301432 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.135A>G (p.Lys45=) single nucleotide variant not provided [RCV003690360] Chr11:18311998 [GRCh38]
Chr11:18333545 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2951+9G>A single nucleotide variant not provided [RCV003827952] Chr11:18285337 [GRCh38]
Chr11:18306884 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1511-19del deletion not provided [RCV003572549] Chr11:18296141 [GRCh38]
Chr11:18317688 [GRCh37]
Chr11:11p15.1		 benign
NM_181507.2(HPS5):c.1227C>T (p.Thr409=) single nucleotide variant not provided [RCV003692205] Chr11:18297655 [GRCh38]
Chr11:18319202 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2790T>C (p.Leu930=) single nucleotide variant not provided [RCV003572422] Chr11:18286638 [GRCh38]
Chr11:18308185 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1862+18C>A single nucleotide variant not provided [RCV003661338] Chr11:18292881 [GRCh38]
Chr11:18314428 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.975T>C (p.Ser325=) single nucleotide variant not provided [RCV003877675] Chr11:18300838 [GRCh38]
Chr11:18322385 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1230C>T (p.Tyr410=) single nucleotide variant not provided [RCV003691760] Chr11:18297652 [GRCh38]
Chr11:18319199 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2951+1G>A single nucleotide variant not provided [RCV003687242] Chr11:18285345 [GRCh38]
Chr11:18306892 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.1089C>T (p.Arg363=) single nucleotide variant not provided [RCV003690704] Chr11:18298867 [GRCh38]
Chr11:18320414 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1320A>T (p.Ser440=) single nucleotide variant not provided [RCV003572840] Chr11:18297562 [GRCh38]
Chr11:18319109 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2757A>G (p.Leu919=) single nucleotide variant not provided [RCV003660145] Chr11:18286671 [GRCh38]
Chr11:18308218 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.810T>C (p.Pro270=) single nucleotide variant not provided [RCV003660362] Chr11:18306149 [GRCh38]
Chr11:18327696 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1324-21_1324-20dup duplication not provided [RCV003882511] Chr11:18297003..18297004 [GRCh38]
Chr11:18318550..18318551 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.478-8C>A single nucleotide variant not provided [RCV003692385] Chr11:18309087 [GRCh38]
Chr11:18330634 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.109-17T>C single nucleotide variant not provided [RCV003692336] Chr11:18312041 [GRCh38]
Chr11:18333588 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1935A>C (p.Ser645=) single nucleotide variant not provided [RCV003575462] Chr11:18291947 [GRCh38]
Chr11:18313494 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.109-11C>T single nucleotide variant not provided [RCV003690091] Chr11:18312035 [GRCh38]
Chr11:18333582 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.478-17T>G single nucleotide variant not provided [RCV003574569] Chr11:18309096 [GRCh38]
Chr11:18330643 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2440+7C>G single nucleotide variant not provided [RCV003826866] Chr11:18291435 [GRCh38]
Chr11:18312982 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2589T>C (p.Ala863=) single nucleotide variant not provided [RCV003689967] Chr11:18287663 [GRCh38]
Chr11:18309210 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.108+20T>C single nucleotide variant not provided [RCV003662941] Chr11:18317731 [GRCh38]
Chr11:18339278 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1862+13A>C single nucleotide variant not provided [RCV003547537] Chr11:18292886 [GRCh38]
Chr11:18314433 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1113C>T (p.Asn371=) single nucleotide variant not provided [RCV003687941] Chr11:18298843 [GRCh38]
Chr11:18320390 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1784+15A>C single nucleotide variant not provided [RCV003662434] Chr11:18295005 [GRCh38]
Chr11:18316552 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1419A>G (p.Gln473=) single nucleotide variant not provided [RCV003878913] Chr11:18296889 [GRCh38]
Chr11:18318436 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.612-5G>A single nucleotide variant not provided [RCV003572113] Chr11:18306352 [GRCh38]
Chr11:18327899 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.87G>T (p.Arg29=) single nucleotide variant not provided [RCV003693369] Chr11:18317772 [GRCh38]
Chr11:18339319 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.849A>G (p.Thr283=) single nucleotide variant not provided [RCV003573729] Chr11:18305469 [GRCh38]
Chr11:18327016 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1510+10G>A single nucleotide variant not provided [RCV003717768] Chr11:18296788 [GRCh38]
Chr11:18318335 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.672T>C (p.Phe224=) single nucleotide variant not provided [RCV003811066] Chr11:18306287 [GRCh38]
Chr11:18327834 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1491T>C (p.Cys497=) single nucleotide variant not provided [RCV003664313] Chr11:18296817 [GRCh38]
Chr11:18318364 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3034dup (p.Met1012fs) duplication not provided [RCV003716840] Chr11:18283818..18283819 [GRCh38]
Chr11:18305365..18305366 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2352C>G (p.Leu784=) single nucleotide variant not provided [RCV003698714] Chr11:18291530 [GRCh38]
Chr11:18313077 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2849_2850del (p.His950fs) microsatellite not provided [RCV003696911] Chr11:18285447..18285448 [GRCh38]
Chr11:18306994..18306995 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.611+19A>G single nucleotide variant not provided [RCV003849616] Chr11:18308927 [GRCh38]
Chr11:18330474 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3186G>T (p.Val1062=) single nucleotide variant not provided [RCV003549294] Chr11:18282093 [GRCh38]
Chr11:18303640 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.285-20_285-19del microsatellite not provided [RCV003697248] Chr11:18310952..18310953 [GRCh38]
Chr11:18332499..18332500 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.285-20C>T single nucleotide variant not provided [RCV003666308] Chr11:18310953 [GRCh38]
Chr11:18332500 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3060T>G (p.Gly1020=) single nucleotide variant not provided [RCV003811674] Chr11:18282219 [GRCh38]
Chr11:18303766 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2562-9T>C single nucleotide variant not provided [RCV003836295] Chr11:18287699 [GRCh38]
Chr11:18309246 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.478-6T>G single nucleotide variant not provided [RCV003580994] Chr11:18309085 [GRCh38]
Chr11:18330632 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1809A>G (p.Pro603=) single nucleotide variant not provided [RCV003659615] Chr11:18292952 [GRCh38]
Chr11:18314499 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1784+19del deletion not provided [RCV003832364] Chr11:18295001 [GRCh38]
Chr11:18316548 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.90G>A (p.Leu30=) single nucleotide variant not provided [RCV003561895] Chr11:18317769 [GRCh38]
Chr11:18339316 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.543G>A (p.Gln181=) single nucleotide variant not provided [RCV003855875] Chr11:18309014 [GRCh38]
Chr11:18330561 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.611+17T>C single nucleotide variant not provided [RCV003673352] Chr11:18308929 [GRCh38]
Chr11:18330476 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.611+15C>G single nucleotide variant not provided [RCV003856591] Chr11:18308931 [GRCh38]
Chr11:18330478 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2277A>G (p.Gly759=) single nucleotide variant not provided [RCV003667048] Chr11:18291605 [GRCh38]
Chr11:18313152 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2736C>T (p.Ser912=) single nucleotide variant not provided [RCV003701637] Chr11:18286692 [GRCh38]
Chr11:18308239 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2970A>G (p.Leu990=) single nucleotide variant not provided [RCV003700472] Chr11:18283883 [GRCh38]
Chr11:18305430 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.321G>A (p.Glu107=) single nucleotide variant HPS5-related disorder [RCV004753708]|not provided [RCV003724848] Chr11:18310897 [GRCh38]
Chr11:18332444 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.387C>T (p.Leu129=) single nucleotide variant not provided [RCV003850032] Chr11:18310831 [GRCh38]
Chr11:18332378 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1467A>G (p.Glu489=) single nucleotide variant not provided [RCV003548621] Chr11:18296841 [GRCh38]
Chr11:18318388 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2115A>C (p.Thr705=) single nucleotide variant not provided [RCV003717054] Chr11:18291767 [GRCh38]
Chr11:18313314 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1665G>A (p.Glu555=) single nucleotide variant not provided [RCV003696969] Chr11:18295139 [GRCh38]
Chr11:18316686 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1635-15T>G single nucleotide variant not provided [RCV003854879] Chr11:18295184 [GRCh38]
Chr11:18316731 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1344C>T (p.Asp448=) single nucleotide variant not provided [RCV003659094] Chr11:18296964 [GRCh38]
Chr11:18318511 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2406T>C (p.Pro802=) single nucleotide variant not provided [RCV003549221] Chr11:18291476 [GRCh38]
Chr11:18313023 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1635-2A>G single nucleotide variant not provided [RCV003726854] Chr11:18295171 [GRCh38]
Chr11:18316718 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.1569G>C (p.Pro523=) single nucleotide variant not provided [RCV003832190] Chr11:18296064 [GRCh38]
Chr11:18317611 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2218T>C (p.Leu740=) single nucleotide variant not provided [RCV003548762] Chr11:18291664 [GRCh38]
Chr11:18313211 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.109-18C>A single nucleotide variant not provided [RCV003666155] Chr11:18312042 [GRCh38]
Chr11:18333589 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2478A>G (p.Glu826=) single nucleotide variant not provided [RCV003561745] Chr11:18287976 [GRCh38]
Chr11:18309523 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1404C>T (p.Cys468=) single nucleotide variant not provided [RCV003674455] Chr11:18296904 [GRCh38]
Chr11:18318451 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1617T>C (p.Leu539=) single nucleotide variant not provided [RCV003835974] Chr11:18296016 [GRCh38]
Chr11:18317563 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3058+7C>T single nucleotide variant not provided [RCV003672995] Chr11:18283788 [GRCh38]
Chr11:18305335 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.825-19A>G single nucleotide variant not provided [RCV003702592] Chr11:18305512 [GRCh38]
Chr11:18327059 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1488T>A (p.Cys496Ter) single nucleotide variant not provided [RCV003723954] Chr11:18296820 [GRCh38]
Chr11:18318367 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.155C>G (p.Ser52Ter) single nucleotide variant not provided [RCV003670217] Chr11:18311978 [GRCh38]
Chr11:18333525 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2643A>G (p.Gln881=) single nucleotide variant not provided [RCV003668350] Chr11:18287609 [GRCh38]
Chr11:18309156 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2838-14T>C single nucleotide variant not provided [RCV003703277] Chr11:18285473 [GRCh38]
Chr11:18307020 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3300T>C (p.Asp1100=) single nucleotide variant not provided [RCV003674132] Chr11:18281979 [GRCh38]
Chr11:18303526 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.82dup (p.Leu28fs) duplication not provided [RCV003560011] Chr11:18317776..18317777 [GRCh38]
Chr11:18339323..18339324 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.23del (p.Pro8fs) deletion not provided [RCV003702074] Chr11:18317836 [GRCh38]
Chr11:18339383 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.723A>G (p.Pro241=) single nucleotide variant not provided [RCV003839236] Chr11:18306236 [GRCh38]
Chr11:18327783 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.69A>G (p.Pro23=) single nucleotide variant not provided [RCV003840105] Chr11:18317790 [GRCh38]
Chr11:18339337 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1515T>C (p.Asn505=) single nucleotide variant not provided [RCV003840287] Chr11:18296118 [GRCh38]
Chr11:18317665 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3243G>T (p.Leu1081=) single nucleotide variant not provided [RCV003816746] Chr11:18282036 [GRCh38]
Chr11:18303583 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2561+14T>C single nucleotide variant not provided [RCV003672863] Chr11:18287879 [GRCh38]
Chr11:18309426 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2441-18A>G single nucleotide variant not provided [RCV003838877] Chr11:18288031 [GRCh38]
Chr11:18309578 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.109-10A>G single nucleotide variant not provided [RCV003670205] Chr11:18312034 [GRCh38]
Chr11:18333581 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1323+9T>A single nucleotide variant not provided [RCV003561880] Chr11:18297550 [GRCh38]
Chr11:18319097 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.825-13G>A single nucleotide variant not provided [RCV003700228] Chr11:18305506 [GRCh38]
Chr11:18327053 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2689C>T (p.Leu897=) single nucleotide variant not provided [RCV003672874] Chr11:18287563 [GRCh38]
Chr11:18309110 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2837+8A>C single nucleotide variant not provided [RCV003812111] Chr11:18286583 [GRCh38]
Chr11:18308130 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2561+15A>G single nucleotide variant not provided [RCV003814142] Chr11:18287878 [GRCh38]
Chr11:18309425 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.402T>C (p.Ala134=) single nucleotide variant not provided [RCV003702250] Chr11:18310816 [GRCh38]
Chr11:18332363 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.777G>A (p.Gln259=) single nucleotide variant not provided [RCV003855704] Chr11:18306182 [GRCh38]
Chr11:18327729 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1077C>T (p.Arg359=) single nucleotide variant not provided [RCV003668604] Chr11:18298879 [GRCh38]
Chr11:18320426 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1862+14G>A single nucleotide variant not provided [RCV003855828] Chr11:18292885 [GRCh38]
Chr11:18314432 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2441-9A>G single nucleotide variant not provided [RCV003814357] Chr11:18288022 [GRCh38]
Chr11:18309569 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2949_2950insTA (p.Gly984Ter) insertion not provided [RCV003560673] Chr11:18285347..18285348 [GRCh38]
Chr11:18306894..18306895 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1784+1_1784+11del deletion not provided [RCV003856164] Chr11:18295009..18295019 [GRCh38]
Chr11:18316556..18316566 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.1029G>A (p.Leu343=) single nucleotide variant not provided [RCV003703195] Chr11:18298927 [GRCh38]
Chr11:18320474 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.75C>G (p.Leu25=) single nucleotide variant not provided [RCV003839612] Chr11:18317784 [GRCh38]
Chr11:18339331 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3246A>G (p.Leu1082=) single nucleotide variant not provided [RCV003855985] Chr11:18282033 [GRCh38]
Chr11:18303580 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2220G>A (p.Leu740=) single nucleotide variant not provided [RCV003667126] Chr11:18291662 [GRCh38]
Chr11:18313209 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2951+19del deletion not provided [RCV003723522] Chr11:18285327 [GRCh38]
Chr11:18306874 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2440+17C>A single nucleotide variant not provided [RCV003839875] Chr11:18291425 [GRCh38]
Chr11:18312972 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3330-18T>G single nucleotide variant not provided [RCV003698654] Chr11:18279960 [GRCh38]
Chr11:18301507 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.45T>C (p.Leu15=) single nucleotide variant not provided [RCV003670185] Chr11:18317814 [GRCh38]
Chr11:18339361 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3059-12G>T single nucleotide variant not provided [RCV003852257] Chr11:18282232 [GRCh38]
Chr11:18303779 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3282G>A (p.Lys1094=) single nucleotide variant not provided [RCV003668434] Chr11:18281997 [GRCh38]
Chr11:18303544 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2718-14C>T single nucleotide variant not provided [RCV003673005] Chr11:18286724 [GRCh38]
Chr11:18308271 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1296C>T (p.Ser432=) single nucleotide variant not provided [RCV003723401] Chr11:18297586 [GRCh38]
Chr11:18319133 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1784+9T>G single nucleotide variant not provided [RCV003560191] Chr11:18295011 [GRCh38]
Chr11:18316558 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1866C>G (p.Thr622=) single nucleotide variant not provided [RCV003668693] Chr11:18292016 [GRCh38]
Chr11:18313563 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2951+18A>G single nucleotide variant not provided [RCV003560389] Chr11:18285328 [GRCh38]
Chr11:18306875 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1968T>C (p.Phe656=) single nucleotide variant not provided [RCV003580571] Chr11:18291914 [GRCh38]
Chr11:18313461 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3058+8A>G single nucleotide variant not provided [RCV003558344] Chr11:18283787 [GRCh38]
Chr11:18305334 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.825-8C>A single nucleotide variant not provided [RCV003701872] Chr11:18305501 [GRCh38]
Chr11:18327048 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3330-4del deletion not provided [RCV003852403] Chr11:18279946 [GRCh38]
Chr11:18301493 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1503A>G (p.Gly501=) single nucleotide variant not provided [RCV003702126] Chr11:18296805 [GRCh38]
Chr11:18318352 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2718-2A>G single nucleotide variant not provided [RCV003665581] Chr11:18286712 [GRCh38]
Chr11:18308259 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2718-18T>C single nucleotide variant not provided [RCV003832491] Chr11:18286728 [GRCh38]
Chr11:18308275 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1255del (p.Glu419fs) deletion not provided [RCV003723583] Chr11:18297627 [GRCh38]
Chr11:18319174 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.477+1G>A single nucleotide variant not provided [RCV003837787] Chr11:18310740 [GRCh38]
Chr11:18332287 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.1863-1G>A single nucleotide variant not provided [RCV003700427] Chr11:18292020 [GRCh38]
Chr11:18313567 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.1302A>G (p.Arg434=) single nucleotide variant not provided [RCV003851605] Chr11:18297580 [GRCh38]
Chr11:18319127 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.642A>G (p.Glu214=) single nucleotide variant not provided [RCV003834160] Chr11:18306317 [GRCh38]
Chr11:18327864 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1783G>T (p.Glu595Ter) single nucleotide variant not provided [RCV003559939] Chr11:18295021 [GRCh38]
Chr11:18316568 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.3058+16C>T single nucleotide variant not provided [RCV003580915] Chr11:18283779 [GRCh38]
Chr11:18305326 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2742G>C (p.Leu914=) single nucleotide variant not provided [RCV003665192] Chr11:18286686 [GRCh38]
Chr11:18308233 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3059-14del deletion not provided [RCV003701636] Chr11:18282234 [GRCh38]
Chr11:18303781 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1578del (p.Pro527fs) deletion not provided [RCV003701699] Chr11:18296055 [GRCh38]
Chr11:18317602 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.300T>G (p.Val100=) single nucleotide variant not provided [RCV003834922] Chr11:18310918 [GRCh38]
Chr11:18332465 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2532T>C (p.Asp844=) single nucleotide variant not provided [RCV003699838] Chr11:18287922 [GRCh38]
Chr11:18309469 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1785-8T>C single nucleotide variant not provided [RCV003724187] Chr11:18292984 [GRCh38]
Chr11:18314531 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2951+17T>A single nucleotide variant not provided [RCV003723523] Chr11:18285329 [GRCh38]
Chr11:18306876 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.597G>A (p.Leu199=) single nucleotide variant HPS5-related disorder [RCV003929296]|not provided [RCV003700061] Chr11:18308960 [GRCh38]
Chr11:18330507 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1510+16G>A single nucleotide variant not provided [RCV003837460] Chr11:18296782 [GRCh38]
Chr11:18318329 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1165-17C>A single nucleotide variant not provided [RCV003667320] Chr11:18297734 [GRCh38]
Chr11:18319281 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2577T>C (p.Phe859=) single nucleotide variant not provided [RCV003855378] Chr11:18287675 [GRCh38]
Chr11:18309222 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2838-19A>C single nucleotide variant not provided [RCV003665159] Chr11:18285478 [GRCh38]
Chr11:18307025 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1686G>A (p.Thr562=) single nucleotide variant not provided [RCV003836637] Chr11:18295118 [GRCh38]
Chr11:18316665 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2561+13G>A single nucleotide variant not provided [RCV003707862] Chr11:18287880 [GRCh38]
Chr11:18309427 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3329+6A>G single nucleotide variant not provided [RCV003710301] Chr11:18281944 [GRCh38]
Chr11:18303491 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3058+2T>C single nucleotide variant not provided [RCV003542965] Chr11:18283793 [GRCh38]
Chr11:18305340 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.789C>G (p.Leu263=) single nucleotide variant not provided [RCV003706656] Chr11:18306170 [GRCh38]
Chr11:18327717 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.612-15C>T single nucleotide variant not provided [RCV003823783] Chr11:18306362 [GRCh38]
Chr11:18327909 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2098G>T (p.Glu700Ter) single nucleotide variant not provided [RCV003566966] Chr11:18291784 [GRCh38]
Chr11:18313331 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1857A>G (p.Glu619=) single nucleotide variant not provided [RCV003563802] Chr11:18292904 [GRCh38]
Chr11:18314451 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.981C>T (p.Val327=) single nucleotide variant not provided [RCV003568886] Chr11:18300832 [GRCh38]
Chr11:18322379 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.858C>G (p.Ser286=) single nucleotide variant not provided [RCV003567263] Chr11:18305460 [GRCh38]
Chr11:18327007 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1948dup (p.Thr650fs) duplication not provided [RCV003848585] Chr11:18291933..18291934 [GRCh38]
Chr11:18313480..18313481 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.251T>G (p.Leu84Ter) single nucleotide variant not provided [RCV003542975] Chr11:18311420 [GRCh38]
Chr11:18332967 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2434T>C (p.Leu812=) single nucleotide variant not provided [RCV003566881] Chr11:18291448 [GRCh38]
Chr11:18312995 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1569G>A (p.Pro523=) single nucleotide variant not provided [RCV003728762] Chr11:18296064 [GRCh38]
Chr11:18317611 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3136C>T (p.Gln1046Ter) single nucleotide variant not provided [RCV003706844] Chr11:18282143 [GRCh38]
Chr11:18303690 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.3059-14dup duplication not provided [RCV003822166] Chr11:18282233..18282234 [GRCh38]
Chr11:18303780..18303781 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1164+2T>C single nucleotide variant not provided [RCV003562862] Chr11:18298790 [GRCh38]
Chr11:18320337 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.519A>T (p.Thr173=) single nucleotide variant not provided [RCV003858843] Chr11:18309038 [GRCh38]
Chr11:18330585 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1908G>C (p.Leu636=) single nucleotide variant not provided [RCV003863137] Chr11:18291974 [GRCh38]
Chr11:18313521 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.219+17C>G single nucleotide variant not provided [RCV003682149] Chr11:18311897 [GRCh38]
Chr11:18333444 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3329+7T>G single nucleotide variant not provided [RCV003865160] Chr11:18281943 [GRCh38]
Chr11:18303490 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.219+2T>C single nucleotide variant not provided [RCV003706367] Chr11:18311912 [GRCh38]
Chr11:18333459 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.2760G>A (p.Arg920=) single nucleotide variant not provided [RCV003822622] Chr11:18286668 [GRCh38]
Chr11:18308215 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2441-16A>G single nucleotide variant not provided [RCV003712386] Chr11:18288029 [GRCh38]
Chr11:18309576 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2103T>C (p.Ser701=) single nucleotide variant not provided [RCV003708929] Chr11:18291779 [GRCh38]
Chr11:18313326 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.87G>A (p.Arg29=) single nucleotide variant not provided [RCV003734029] Chr11:18317772 [GRCh38]
Chr11:18339319 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3096C>T (p.Leu1032=) single nucleotide variant not provided [RCV003864355] Chr11:18282183 [GRCh38]
Chr11:18303730 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1510+19G>T single nucleotide variant not provided [RCV003706035] Chr11:18296779 [GRCh38]
Chr11:18318326 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2415G>A (p.Trp805Ter) single nucleotide variant not provided [RCV003552179] Chr11:18291467 [GRCh38]
Chr11:18313014 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2181C>T (p.Cys727=) single nucleotide variant not provided [RCV003841308] Chr11:18291701 [GRCh38]
Chr11:18313248 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3329+7T>C single nucleotide variant not provided [RCV003705807] Chr11:18281943 [GRCh38]
Chr11:18303490 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.643A>G (p.Arg215Gly) single nucleotide variant not provided [RCV003821316] Chr11:18306316 [GRCh38]
Chr11:18327863 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2343C>T (p.Tyr781=) single nucleotide variant not provided [RCV003552238] Chr11:18291539 [GRCh38]
Chr11:18313086 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1634+14T>G single nucleotide variant not provided [RCV003711671] Chr11:18295985 [GRCh38]
Chr11:18317532 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3285T>C (p.Phe1095=) single nucleotide variant not provided [RCV003711650] Chr11:18281994 [GRCh38]
Chr11:18303541 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2628A>G (p.Pro876=) single nucleotide variant not provided [RCV003556742] Chr11:18287624 [GRCh38]
Chr11:18309171 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2085T>G (p.Ser695=) single nucleotide variant not provided [RCV003857492] Chr11:18291797 [GRCh38]
Chr11:18313344 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1722T>A (p.Gly574=) single nucleotide variant not provided [RCV003550828] Chr11:18295082 [GRCh38]
Chr11:18316629 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1479A>C (p.Pro493=) single nucleotide variant not provided [RCV003863525] Chr11:18296829 [GRCh38]
Chr11:18318376 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1510+8A>T single nucleotide variant not provided [RCV003566254] Chr11:18296790 [GRCh38]
Chr11:18318337 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.220-7del deletion not provided [RCV003711848] Chr11:18311458 [GRCh38]
Chr11:18333005 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1281G>A (p.Leu427=) single nucleotide variant not provided [RCV003712321] Chr11:18297601 [GRCh38]
Chr11:18319148 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1165-18G>A single nucleotide variant not provided [RCV003705142] Chr11:18297735 [GRCh38]
Chr11:18319282 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1038T>C (p.Asn346=) single nucleotide variant not provided [RCV003567322] Chr11:18298918 [GRCh38]
Chr11:18320465 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2440+15G>C single nucleotide variant not provided [RCV003861045] Chr11:18291427 [GRCh38]
Chr11:18312974 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.30C>G (p.Ser10=) single nucleotide variant not provided [RCV003719328] Chr11:18317829 [GRCh38]
Chr11:18339376 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1677C>T (p.Thr559=) single nucleotide variant not provided [RCV003685212] Chr11:18295127 [GRCh38]
Chr11:18316674 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1634+8A>G single nucleotide variant not provided [RCV003706343] Chr11:18295991 [GRCh38]
Chr11:18317538 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2298A>G (p.Gln766=) single nucleotide variant not provided [RCV003707839] Chr11:18291584 [GRCh38]
Chr11:18313131 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3240A>G (p.Ser1080=) single nucleotide variant not provided [RCV003867633] Chr11:18282039 [GRCh38]
Chr11:18303586 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.409A>C (p.Arg137=) single nucleotide variant not provided [RCV003557149] Chr11:18310809 [GRCh38]
Chr11:18332356 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3264C>T (p.Ala1088=) single nucleotide variant not provided [RCV003683866] Chr11:18282015 [GRCh38]
Chr11:18303562 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.220-4C>T single nucleotide variant not provided [RCV003674766] Chr11:18311455 [GRCh38]
Chr11:18333002 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1733C>G (p.Ser578Ter) single nucleotide variant not provided [RCV003542963] Chr11:18295071 [GRCh38]
Chr11:18316618 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1233T>C (p.Asn411=) single nucleotide variant not provided [RCV003721071] Chr11:18297649 [GRCh38]
Chr11:18319196 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2373G>A (p.Lys791=) single nucleotide variant not provided [RCV003710568] Chr11:18291509 [GRCh38]
Chr11:18313056 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1635-18T>C single nucleotide variant not provided [RCV003675065] Chr11:18295187 [GRCh38]
Chr11:18316734 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2718-8T>C single nucleotide variant not provided [RCV003857459] Chr11:18286718 [GRCh38]
Chr11:18308265 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2157C>T (p.Asp719=) single nucleotide variant not provided [RCV003705591] Chr11:18291725 [GRCh38]
Chr11:18313272 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2077_2078del (p.Arg693fs) deletion not provided [RCV003679426] Chr11:18291804..18291805 [GRCh38]
Chr11:18313351..18313352 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1623del (p.Val542fs) deletion not provided [RCV003567253] Chr11:18296010 [GRCh38]
Chr11:18317557 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.739dup (p.Glu247fs) duplication HPS5-related disorder [RCV004753735]|Hermansky-Pudlak syndrome [RCV003988164]|not provided [RCV003871666] Chr11:18306219..18306220 [GRCh38]
Chr11:18327766..18327767 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic
NM_181507.2(HPS5):c.2718-4T>G single nucleotide variant not provided [RCV003681652] Chr11:18286714 [GRCh38]
Chr11:18308261 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.949C>T (p.Gln317Ter) single nucleotide variant not provided [RCV003564364] Chr11:18300864 [GRCh38]
Chr11:18322411 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2256T>C (p.Ser752=) single nucleotide variant not provided [RCV003848433] Chr11:18291626 [GRCh38]
Chr11:18313173 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.930A>T (p.Gly310=) single nucleotide variant not provided [RCV003869117] Chr11:18300883 [GRCh38]
Chr11:18322430 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.748T>C (p.Phe250Leu) single nucleotide variant not provided [RCV003684648] Chr11:18306211 [GRCh38]
Chr11:18327758 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.516C>T (p.Ile172=) single nucleotide variant not provided [RCV003684875] Chr11:18309041 [GRCh38]
Chr11:18330588 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.595T>C (p.Leu199=) single nucleotide variant not provided [RCV003553251] Chr11:18308962 [GRCh38]
Chr11:18330509 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1389A>G (p.Ser463=) single nucleotide variant not provided [RCV003868562] Chr11:18296919 [GRCh38]
Chr11:18318466 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1404del (p.Ser469fs) deletion not provided [RCV003871190] Chr11:18296904 [GRCh38]
Chr11:18318451 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.702T>G (p.Pro234=) single nucleotide variant not provided [RCV003564714] Chr11:18306257 [GRCh38]
Chr11:18327804 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.220-15T>C single nucleotide variant not provided [RCV003684021] Chr11:18311466 [GRCh38]
Chr11:18333013 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3177C>A (p.Pro1059=) single nucleotide variant not provided [RCV003719258] Chr11:18282102 [GRCh38]
Chr11:18303649 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1324-19_1324-18insT insertion not provided [RCV003674646] Chr11:18297002..18297003 [GRCh38]
Chr11:18318549..18318550 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1872A>G (p.Leu624=) single nucleotide variant not provided [RCV003719306] Chr11:18292010 [GRCh38]
Chr11:18313557 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.220-19A>T single nucleotide variant not provided [RCV003721207] Chr11:18311470 [GRCh38]
Chr11:18333017 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.537T>C (p.Val179=) single nucleotide variant not provided [RCV003568444] Chr11:18309020 [GRCh38]
Chr11:18330567 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.897-10_897-8del microsatellite not provided [RCV003733327] Chr11:18300924..18300926 [GRCh38]
Chr11:18322471..18322473 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.888dup (p.His297fs) duplication not provided [RCV003557583] Chr11:18305429..18305430 [GRCh38]
Chr11:18326976..18326977 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.302_305del (p.Val101fs) deletion not provided [RCV003557584] Chr11:18310913..18310916 [GRCh38]
Chr11:18332460..18332463 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.3135C>A (p.Pro1045=) single nucleotide variant not provided [RCV003867587] Chr11:18282144 [GRCh38]
Chr11:18303691 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.612-7A>G single nucleotide variant not provided [RCV003857228] Chr11:18306354 [GRCh38]
Chr11:18327901 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1299T>C (p.Ser433=) single nucleotide variant not provided [RCV003733750] Chr11:18297583 [GRCh38]
Chr11:18319130 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3059-8G>T single nucleotide variant not provided [RCV003681225] Chr11:18282228 [GRCh38]
Chr11:18303775 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2806A>G (p.Thr936Ala) single nucleotide variant not provided [RCV003722194] Chr11:18286622 [GRCh38]
Chr11:18308169 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.1557A>G (p.Glu519=) single nucleotide variant not provided [RCV003732041] Chr11:18296076 [GRCh38]
Chr11:18317623 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.948T>C (p.Pro316=) single nucleotide variant not provided [RCV003868944] Chr11:18300865 [GRCh38]
Chr11:18322412 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1252del (p.Glu418fs) deletion not provided [RCV003567242] Chr11:18297630 [GRCh38]
Chr11:18319177 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2717+15A>G single nucleotide variant not provided [RCV003821723] Chr11:18287520 [GRCh38]
Chr11:18309067 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1324-11T>C single nucleotide variant not provided [RCV003679315] Chr11:18296995 [GRCh38]
Chr11:18318542 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2440+12A>G single nucleotide variant not provided [RCV003563034] Chr11:18291430 [GRCh38]
Chr11:18312977 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1629A>G (p.Lys543=) single nucleotide variant not provided [RCV003562981] Chr11:18296004 [GRCh38]
Chr11:18317551 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2880C>T (p.Ile960=) single nucleotide variant not provided [RCV003718639] Chr11:18285417 [GRCh38]
Chr11:18306964 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3243G>A (p.Leu1081=) single nucleotide variant not provided [RCV003568388] Chr11:18282036 [GRCh38]
Chr11:18303583 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1696del (p.Asp565_Leu566insTer) deletion not provided [RCV003567131] Chr11:18295108 [GRCh38]
Chr11:18316655 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1317A>G (p.Ser439=) single nucleotide variant not provided [RCV003554203] Chr11:18297565 [GRCh38]
Chr11:18319112 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.591del (p.Phe198fs) deletion not provided [RCV003847590] Chr11:18308966 [GRCh38]
Chr11:18330513 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2718-7C>T single nucleotide variant not provided [RCV003819267] Chr11:18286717 [GRCh38]
Chr11:18308264 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2667G>A (p.Glu889=) single nucleotide variant not provided [RCV003853114] Chr11:18287585 [GRCh38]
Chr11:18309132 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2837+1G>C single nucleotide variant not provided [RCV003865639] Chr11:18286590 [GRCh38]
Chr11:18308137 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.477+19C>G single nucleotide variant not provided [RCV003552501] Chr11:18310722 [GRCh38]
Chr11:18332269 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3168G>C (p.Gly1056=) single nucleotide variant not provided [RCV003682701] Chr11:18282111 [GRCh38]
Chr11:18303658 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.114G>A (p.Thr38=) single nucleotide variant not provided [RCV003556823] Chr11:18312019 [GRCh38]
Chr11:18333566 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2889A>G (p.Leu963=) single nucleotide variant not provided [RCV003862321] Chr11:18285408 [GRCh38]
Chr11:18306955 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1209T>G (p.Ser403=) single nucleotide variant not provided [RCV003553304] Chr11:18297673 [GRCh38]
Chr11:18319220 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1863-19A>G single nucleotide variant not provided [RCV003856946] Chr11:18292038 [GRCh38]
Chr11:18313585 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1237del (p.Asp412_Leu413insTer) deletion not provided [RCV003563390] Chr11:18297645 [GRCh38]
Chr11:18319192 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.611+15del deletion not provided [RCV003844732] Chr11:18308931 [GRCh38]
Chr11:18330478 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.220-17T>C single nucleotide variant not provided [RCV003862671] Chr11:18311468 [GRCh38]
Chr11:18333015 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2717+18T>A single nucleotide variant not provided [RCV003564689] Chr11:18287517 [GRCh38]
Chr11:18309064 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1089C>G (p.Arg363=) single nucleotide variant not provided [RCV003860643] Chr11:18298867 [GRCh38]
Chr11:18320414 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.985+20T>C single nucleotide variant not provided [RCV003567697] Chr11:18300808 [GRCh38]
Chr11:18322355 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3059-16C>A single nucleotide variant not provided [RCV003862792] Chr11:18282236 [GRCh38]
Chr11:18303783 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1647T>C (p.Phe549=) single nucleotide variant not provided [RCV003674681] Chr11:18295157 [GRCh38]
Chr11:18316704 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.537T>A (p.Val179=) single nucleotide variant not provided [RCV003820869] Chr11:18309020 [GRCh38]
Chr11:18330567 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2562-1G>A single nucleotide variant not provided [RCV003677061] Chr11:18287691 [GRCh38]
Chr11:18309238 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.2796T>A (p.Ala932=) single nucleotide variant not provided [RCV003681403] Chr11:18286632 [GRCh38]
Chr11:18308179 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1164+2T>G single nucleotide variant not provided [RCV003681416] Chr11:18298790 [GRCh38]
Chr11:18320337 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_181507.2(HPS5):c.1324G>T (p.Glu442Ter) single nucleotide variant not provided [RCV003858340] Chr11:18296984 [GRCh38]
Chr11:18318531 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.220-20T>C single nucleotide variant not provided [RCV003542906] Chr11:18311471 [GRCh38]
Chr11:18333018 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2568T>G (p.Tyr856Ter) single nucleotide variant not provided [RCV003678333] Chr11:18287684 [GRCh38]
Chr11:18309231 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1439_1440del (p.Arg480fs) microsatellite not provided [RCV003840899] Chr11:18296868..18296869 [GRCh38]
Chr11:18318415..18318416 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1784+10T>G single nucleotide variant not provided [RCV003728648] Chr11:18295010 [GRCh38]
Chr11:18316557 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1572C>T (p.Phe524=) single nucleotide variant not provided [RCV003676053] Chr11:18296061 [GRCh38]
Chr11:18317608 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1863-17T>G single nucleotide variant not provided [RCV003677383] Chr11:18292036 [GRCh38]
Chr11:18313583 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.478-14C>T single nucleotide variant not provided [RCV003861100] Chr11:18309093 [GRCh38]
Chr11:18330640 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2717+11G>A single nucleotide variant not provided [RCV003706846] Chr11:18287524 [GRCh38]
Chr11:18309071 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2688T>C (p.Ser896=) single nucleotide variant not provided [RCV003550840] Chr11:18287564 [GRCh38]
Chr11:18309111 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2056del (p.Glu686fs) deletion not provided [RCV003861567] Chr11:18291826 [GRCh38]
Chr11:18313373 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2472G>A (p.Glu824=) single nucleotide variant not provided [RCV003733392] Chr11:18287982 [GRCh38]
Chr11:18309529 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1096A>T (p.Arg366Ter) single nucleotide variant not provided [RCV003676411] Chr11:18298860 [GRCh38]
Chr11:18320407 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.1062G>C (p.Leu354=) single nucleotide variant not provided [RCV003729131] Chr11:18298894 [GRCh38]
Chr11:18320441 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3059-11T>C single nucleotide variant not provided [RCV003860300] Chr11:18282231 [GRCh38]
Chr11:18303778 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.1224C>G (p.Gly408=) single nucleotide variant not provided [RCV003677760] Chr11:18297658 [GRCh38]
Chr11:18319205 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.2055T>C (p.Asp685=) single nucleotide variant not provided [RCV003731481] Chr11:18291827 [GRCh38]
Chr11:18313374 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.3373T>G (p.Trp1125Gly) single nucleotide variant Hermansky-Pudlak syndrome 5 [RCV003991841] Chr11:18279899 [GRCh38]
Chr11:18301446 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2104G>A (p.Val702Ile) single nucleotide variant Inborn genetic diseases [RCV004402227] Chr11:18291778 [GRCh38]
Chr11:18313325 [GRCh37]
Chr11:11p15.1		 likely benign
NM_181507.2(HPS5):c.298G>C (p.Val100Leu) single nucleotide variant Inborn genetic diseases [RCV004402228] Chr11:18310920 [GRCh38]
Chr11:18332467 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.652G>A (p.Glu218Lys) single nucleotide variant Inborn genetic diseases [RCV004402230] Chr11:18306307 [GRCh38]
Chr11:18327854 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.836A>G (p.Gln279Arg) single nucleotide variant Inborn genetic diseases [RCV004402231] Chr11:18305482 [GRCh38]
Chr11:18327029 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18322355)_(18322483_?)del deletion not provided [RCV004580378] Chr11:18322355..18322483 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_181507.2(HPS5):c.2929A>G (p.Thr977Ala) single nucleotide variant Inborn genetic diseases [RCV004626251] Chr11:18285368 [GRCh38]
Chr11:18306915 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2722T>A (p.Ser908Thr) single nucleotide variant Inborn genetic diseases [RCV004633087] Chr11:18286706 [GRCh38]
Chr11:18308253 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3025C>G (p.Leu1009Val) single nucleotide variant Inborn genetic diseases [RCV004633085] Chr11:18283828 [GRCh38]
Chr11:18305375 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2311G>A (p.Glu771Lys) single nucleotide variant Inborn genetic diseases [RCV004633086] Chr11:18291571 [GRCh38]
Chr11:18313118 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2546T>C (p.Val849Ala) single nucleotide variant HPS5-related disorder [RCV004754119] Chr11:18287908 [GRCh38]
Chr11:18309455 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.2620A>G (p.Ile874Val) single nucleotide variant not specified [RCV004766558] Chr11:18287632 [GRCh38]
Chr11:18309179 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_181507.2(HPS5):c.3155G>A (p.Ser1052Asn) single nucleotide variant HPS5-related disorder [RCV004730800] Chr11:18282124 [GRCh38]
Chr11:18303671 [GRCh37]
Chr11:11p15.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1986
Count of miRNA genes:799
Interacting mature miRNAs:945
Transcripts:ENST00000349215, ENST00000352460, ENST00000396253, ENST00000399287, ENST00000438420, ENST00000531848, ENST00000537258, ENST00000543728, ENST00000544218, ENST00000545561, ENST00000589545
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1576345LVC1_HLeft ventricular contractility QTL 1 (human)3.93Left ventricular contractility11797076733970767Human
597057940GWAS1154014_Hhair colour measurement QTL GWAS1154014 (human)4e-11coat/hair pigmentation trait (VT:0010463)coat/hair color measurement (CMO:0001808)111827958218279583Human
2289313BW388_HBody weight QTL 388 (human)1.570.00356Body fat amountabdominal11443467130434671Human
597246172GWAS1342246_HIGF-1 measurement QTL GWAS1342246 (human)2e-14IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)111830197018301971Human
597140498GWAS1236572_H2-hydroxy-3-methylvalerate measurement QTL GWAS1236572 (human)3e-272-hydroxy-3-methylvalerate measurement111830499518304996Human
597140496GWAS1236570_H2-hydroxy-3-methylvalerate measurement QTL GWAS1236570 (human)1e-272-hydroxy-3-methylvalerate measurement111829109018291091Human
597136796GWAS1232870_Halpha-hydroxyisovalerate measurement QTL GWAS1232870 (human)2e-80alpha-hydroxyisovalerate measurement111831435818314359Human
597290326GWAS1386400_Hblood urea nitrogen measurement QTL GWAS1386400 (human)4e-08blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)111830176918301770Human
597304137GWAS1400211_Hserum amyloid A-1 protein measurement QTL GWAS1400211 (human)8e-29serum amyloid A-1 protein measurement111831869418318695Human
1559107SCL32_HSerum cholesterol level QTL 32 (human)3.27Lipid levelLDL cholesterol11289243028892430Human
597173965GWAS1270039_Hbody mass index QTL GWAS1270039 (human)6e-12body mass indexbody mass index (BMI) (CMO:0000105)111829140618291407Human
406929559GWAS578535_Htriglyceride measurement QTL GWAS578535 (human)1e-08triglyceride measurementblood triglyceride level (CMO:0000118)111828036818280369Human
1559104SCL15_HSerum cholesterol level QTL 15 (human)2.60.06Lipid levelhyperlipidemia susceptibility111589236841892368Human
597213391GWAS1309465_Hadiponectin measurement QTL GWAS1309465 (human)0.000002adiponectin measurementblood adiponectin level (CMO:0000485)111828485218284853Human
597278720GWAS1374794_H2-hydroxy-3-methylvalerate measurement QTL GWAS1374794 (human)1e-292-hydroxy-3-methylvalerate measurement111830176918301770Human
597186371GWAS1282445_H2-hydroxy-4-(methylthio)butanoic acid measurement QTL GWAS1282445 (human)2e-302-hydroxy-4-(methylthio)butanoic acid measurement111828890218288903Human
1559113SCL31_HSerum cholesterol level QTL 31 (human)3.72Lipid levelLDL cholesterol11289243028892430Human
407048610GWAS697586_Hserum metabolite measurement QTL GWAS697586 (human)3e-16serum metabolite measurement111830359918303600Human
407051297GWAS700273_Hmetabolite measurement QTL GWAS700273 (human)1e-20metabolite measurement111830359918303600Human
597205308GWAS1301382_Hadiponectin measurement QTL GWAS1301382 (human)0.000009adiponectin measurementblood adiponectin level (CMO:0000485)111828485218284853Human
597351358GWAS1447432_Hbody height QTL GWAS1447432 (human)5e-10body height (VT:0001253)body height (CMO:0000106)111828485218284853Human
597141619GWAS1237693_Himidazole lactate measurement QTL GWAS1237693 (human)8e-23imidazole lactate measurement111829591118295912Human
597199933GWAS1296007_Hbone density QTL GWAS1296007 (human)2e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)111830284518302846Human
597126514GWAS1222588_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS1222588 (human)2e-08attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement111831718918317190Human
597274111GWAS1370185_Hserum amyloid A-1 protein measurement QTL GWAS1370185 (human)7e-12serum amyloid A-1 protein measurement111828559818285599Human
597143973GWAS1240047_H3-hydroxyisovalerate measurement QTL GWAS1240047 (human)1e-303-hydroxyisovalerate measurement111830359918303600Human
597279342GWAS1375416_H2-hydroxy-4-(methylthio)butanoic acid measurement QTL GWAS1375416 (human)1e-372-hydroxy-4-(methylthio)butanoic acid measurement111829109018291091Human
406998517GWAS647493_Hadolescent idiopathic scoliosis QTL GWAS647493 (human)7e-09adolescent idiopathic scoliosis111829219018292191Human
406966073GWAS615049_Hserum amyloid A protein measurement QTL GWAS615049 (human)2e-51serum amyloid A protein measurement111830197018301971Human
597135790GWAS1231864_Hsmoking initiation QTL GWAS1231864 (human)2e-10smoking initiation111829140618291407Human
406936826GWAS585802_Hblood protein measurement QTL GWAS585802 (human)8e-248blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)111830577718305778Human

Markers in Region
SHGC-153557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,340,976 - 18,341,311UniSTSGRCh37
Build 361118,297,552 - 18,297,887RGDNCBI36
Celera1118,473,192 - 18,473,527RGD
Cytogenetic Map11p14UniSTS
HuRef1118,023,489 - 18,023,824UniSTS
TNG Radiation Hybrid Map118839.0UniSTS
AB062963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,318,310 - 18,318,442UniSTSGRCh37
Build 361118,274,886 - 18,275,018RGDNCBI36
Celera1118,450,532 - 18,450,664RGD
HuRef1118,000,819 - 18,000,951UniSTS
STS-W46391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,300,365 - 18,300,495UniSTSGRCh37
Build 361118,256,941 - 18,257,071RGDNCBI36
Celera1118,432,588 - 18,432,718RGD
Cytogenetic Map11p14UniSTS
HuRef1117,982,868 - 17,982,998UniSTS
GeneMap99-GB4 RH Map1171.59UniSTS
SHGC-30910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,344,103 - 18,344,204UniSTSGRCh37
Build 361118,300,679 - 18,300,780RGDNCBI36
Celera1118,476,319 - 18,476,420RGD
Cytogenetic Map11p14UniSTS
Cytogenetic Map11p15.1-p14UniSTS
HuRef1118,026,616 - 18,026,717UniSTS
GeneMap99-G3 RH Map11800.0UniSTS
D11S4020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,334,511 - 18,334,716UniSTSGRCh37
Build 361118,291,087 - 18,291,292RGDNCBI36
Celera1118,466,729 - 18,466,934RGD
Cytogenetic Map11p14UniSTS
HuRef1118,017,026 - 18,017,231UniSTS
Whitehead-RH Map1160.2UniSTS
HPS5__6585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,300,538 - 18,301,356UniSTSGRCh37
Build 361118,257,114 - 18,257,932RGDNCBI36
Celera1118,432,761 - 18,433,579RGD
HuRef1117,983,041 - 17,983,859UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2252 4972 1726 2351 5 624 1951 465 2269 7303 6470 53 3733 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA886415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB023234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF534400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF534401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF534402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ131721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU617359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000349215   ⟹   ENSP00000265967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,278,676 - 18,322,140 (-)Ensembl
Ensembl Acc Id: ENST00000352460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,281,914 - 18,296,101 (-)Ensembl
Ensembl Acc Id: ENST00000396253   ⟹   ENSP00000379552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,278,668 - 18,322,174 (-)Ensembl
Ensembl Acc Id: ENST00000399287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,311,517 - 18,322,178 (-)Ensembl
Ensembl Acc Id: ENST00000438420   ⟹   ENSP00000399590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,279,059 - 18,322,174 (-)Ensembl
Ensembl Acc Id: ENST00000531848   ⟹   ENSP00000431758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,296,162 - 18,322,198 (-)Ensembl
Ensembl Acc Id: ENST00000537258   ⟹   ENSP00000437437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,279,618 - 18,286,914 (-)Ensembl
Ensembl Acc Id: ENST00000543728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,287,891 - 18,296,045 (-)Ensembl
Ensembl Acc Id: ENST00000544218   ⟹   ENSP00000441781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,285,373 - 18,296,045 (-)Ensembl
Ensembl Acc Id: ENST00000545561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,283,793 - 18,291,942 (-)Ensembl
Ensembl Acc Id: ENST00000589545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,311,956 - 18,322,088 (-)Ensembl
RefSeq Acc Id: NM_007216   ⟹   NP_009147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,676 - 18,322,140 (-)NCBI
GRCh371118,300,217 - 18,343,751 (-)NCBI
Build 361118,256,793 - 18,300,297 (-)NCBI Archive
Celera1118,432,440 - 18,475,937 (-)RGD
HuRef1117,982,720 - 18,026,234 (-)ENTREZGENE
CHM1_11118,299,692 - 18,343,209 (-)NCBI
T2T-CHM13v2.01118,374,205 - 18,417,676 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181507   ⟹   NP_852608
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,676 - 18,322,140 (-)NCBI
GRCh371118,300,217 - 18,343,751 (-)NCBI
Build 361118,256,793 - 18,300,297 (-)NCBI Archive
Celera1118,432,440 - 18,475,937 (-)RGD
HuRef1117,982,720 - 18,026,234 (-)ENTREZGENE
CHM1_11118,299,692 - 18,343,209 (-)NCBI
T2T-CHM13v2.01118,374,205 - 18,417,676 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181508   ⟹   NP_852609
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,174 (-)NCBI
GRCh371118,300,217 - 18,343,751 (-)NCBI
Build 361118,256,793 - 18,300,297 (-)NCBI Archive
Celera1118,432,440 - 18,475,937 (-)RGD
HuRef1117,982,720 - 18,026,234 (-)ENTREZGENE
CHM1_11118,299,692 - 18,343,209 (-)NCBI
T2T-CHM13v2.01118,374,199 - 18,417,710 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519862   ⟹   XP_011518164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519863   ⟹   XP_011518165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519864   ⟹   XP_011518166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,174 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519865   ⟹   XP_011518167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519867   ⟹   XP_011518169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519868   ⟹   XP_011518170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,174 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017149   ⟹   XP_016872638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017150   ⟹   XP_016872639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,174 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017151   ⟹   XP_016872640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017152   ⟹   XP_016872641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017153   ⟹   XP_016872642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017154   ⟹   XP_016872643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426324   ⟹   XP_047282280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,174 (-)NCBI
RefSeq Acc Id: XM_047426325   ⟹   XP_047282281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,278,670 - 18,322,174 (-)NCBI
RefSeq Acc Id: XM_047426326   ⟹   XP_047282282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,281,950 - 18,322,140 (-)NCBI
RefSeq Acc Id: XM_047426327   ⟹   XP_047282283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,283,873 - 18,322,140 (-)NCBI
RefSeq Acc Id: XM_047426328   ⟹   XP_047282284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,287,555 - 18,322,140 (-)NCBI
RefSeq Acc Id: XM_047426329   ⟹   XP_047282285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,287,555 - 18,322,140 (-)NCBI
RefSeq Acc Id: XM_047426330   ⟹   XP_047282286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,295,015 - 18,322,140 (-)NCBI
RefSeq Acc Id: XM_054367548   ⟹   XP_054223523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,676 (-)NCBI
RefSeq Acc Id: XM_054367549   ⟹   XP_054223524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,811 (-)NCBI
RefSeq Acc Id: XM_054367550   ⟹   XP_054223525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,710 (-)NCBI
RefSeq Acc Id: XM_054367551   ⟹   XP_054223526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,811 (-)NCBI
RefSeq Acc Id: XM_054367552   ⟹   XP_054223527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,710 (-)NCBI
RefSeq Acc Id: XM_054367553   ⟹   XP_054223528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,676 (-)NCBI
RefSeq Acc Id: XM_054367554   ⟹   XP_054223529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,811 (-)NCBI
RefSeq Acc Id: XM_054367555   ⟹   XP_054223530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,710 (-)NCBI
RefSeq Acc Id: XM_054367556   ⟹   XP_054223531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,676 (-)NCBI
RefSeq Acc Id: XM_054367557   ⟹   XP_054223532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,811 (-)NCBI
RefSeq Acc Id: XM_054367558   ⟹   XP_054223533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,710 (-)NCBI
RefSeq Acc Id: XM_054367559   ⟹   XP_054223534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,811 (-)NCBI
RefSeq Acc Id: XM_054367560   ⟹   XP_054223535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,710 (-)NCBI
RefSeq Acc Id: XM_054367561   ⟹   XP_054223536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,377,479 - 18,417,676 (-)NCBI
RefSeq Acc Id: XM_054367562   ⟹   XP_054223537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,374,199 - 18,417,811 (-)NCBI
RefSeq Acc Id: XM_054367563   ⟹   XP_054223538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,379,402 - 18,417,676 (-)NCBI
RefSeq Acc Id: XM_054367564   ⟹   XP_054223539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,383,084 - 18,417,676 (-)NCBI
RefSeq Acc Id: XM_054367565   ⟹   XP_054223540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01118,383,084 - 18,417,676 (-)NCBI
Protein Sequences
Protein RefSeqs NP_009147 (Get FASTA)   NCBI Sequence Viewer  
  NP_852608 (Get FASTA)   NCBI Sequence Viewer  
  NP_852609 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518164 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518165 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518166 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518167 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518169 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518170 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872638 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872639 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872640 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872641 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872642 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872643 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282280 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282281 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282282 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282283 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282284 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282285 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188481 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188482 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188483 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188484 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188485 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188486 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188487 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188488 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188489 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188490 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188491 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188492 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188493 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188494 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188495 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188496 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188497 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188498 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223523 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223524 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223525 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223526 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223527 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223528 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223529 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223530 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223531 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223532 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223533 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223534 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223535 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223536 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223537 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223538 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223539 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223540 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH33640 (Get FASTA)   NCBI Sequence Viewer  
  AAO25962 (Get FASTA)   NCBI Sequence Viewer  
  AAO25963 (Get FASTA)   NCBI Sequence Viewer  
  AAO25964 (Get FASTA)   NCBI Sequence Viewer  
  BAA76861 (Get FASTA)   NCBI Sequence Viewer  
  BAF84352 (Get FASTA)   NCBI Sequence Viewer  
  BAF85125 (Get FASTA)   NCBI Sequence Viewer  
  BAG51290 (Get FASTA)   NCBI Sequence Viewer  
  CAB38232 (Get FASTA)   NCBI Sequence Viewer  
  EAW68402 (Get FASTA)   NCBI Sequence Viewer  
  EAW68403 (Get FASTA)   NCBI Sequence Viewer  
  EAW68404 (Get FASTA)   NCBI Sequence Viewer  
  EAW68405 (Get FASTA)   NCBI Sequence Viewer  
  EAW68406 (Get FASTA)   NCBI Sequence Viewer  
  EAW68407 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265967
  ENSP00000265967.5
  ENSP00000379552
  ENSP00000379552.3
  ENSP00000399590
  ENSP00000399590.2
  ENSP00000431758.1
  ENSP00000437437.1
  ENSP00000441781.1
  ENSP00000499956.1
  ENSP00000500042.1
  ENSP00000500370.1
  ENSP00000500693.1
  ENSP00000500818.1
  ENSP00000500840.1
GenBank Protein Q9UPZ3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_852608   ⟸   NM_181507
- Peptide Label: isoform a
- UniProtKB: Q9UPZ3 (UniProtKB/Swiss-Prot),   Q8N4U0 (UniProtKB/Swiss-Prot),   O95942 (UniProtKB/Swiss-Prot),   D3DQY0 (UniProtKB/Swiss-Prot),   D3DQX9 (UniProtKB/Swiss-Prot),   A8K8S1 (UniProtKB/Swiss-Prot),   A8K6J8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_852609   ⟸   NM_181508
- Peptide Label: isoform b
- UniProtKB: Q9UPZ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_009147   ⟸   NM_007216
- Peptide Label: isoform b
- UniProtKB: Q9UPZ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518167   ⟸   XM_011519865
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011518165   ⟸   XM_011519863
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011518170   ⟸   XM_011519868
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011518166   ⟸   XM_011519864
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011518169   ⟸   XM_011519867
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011518164   ⟸   XM_011519862
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016872640   ⟸   XM_017017151
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016872641   ⟸   XM_017017152
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016872642   ⟸   XM_017017153
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016872638   ⟸   XM_017017149
- Peptide Label: isoform X2
- UniProtKB: Q9UPZ3 (UniProtKB/Swiss-Prot),   Q8N4U0 (UniProtKB/Swiss-Prot),   O95942 (UniProtKB/Swiss-Prot),   D3DQY0 (UniProtKB/Swiss-Prot),   D3DQX9 (UniProtKB/Swiss-Prot),   A8K8S1 (UniProtKB/Swiss-Prot),   A8K6J8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016872639   ⟸   XM_017017150
- Peptide Label: isoform X2
- UniProtKB: Q9UPZ3 (UniProtKB/Swiss-Prot),   Q8N4U0 (UniProtKB/Swiss-Prot),   O95942 (UniProtKB/Swiss-Prot),   D3DQY0 (UniProtKB/Swiss-Prot),   D3DQX9 (UniProtKB/Swiss-Prot),   A8K8S1 (UniProtKB/Swiss-Prot),   A8K6J8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016872643   ⟸   XM_017017154
- Peptide Label: isoform X7
- UniProtKB: Q9UPZ3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000399590   ⟸   ENST00000438420
Ensembl Acc Id: ENSP00000441781   ⟸   ENST00000544218
Ensembl Acc Id: ENSP00000431758   ⟸   ENST00000531848
Ensembl Acc Id: ENSP00000265967   ⟸   ENST00000349215
Ensembl Acc Id: ENSP00000437437   ⟸   ENST00000537258
Ensembl Acc Id: ENSP00000379552   ⟸   ENST00000396253
RefSeq Acc Id: XP_047282281   ⟸   XM_047426325
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047282280   ⟸   XM_047426324
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282282   ⟸   XM_047426326
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047282283   ⟸   XM_047426327
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047282285   ⟸   XM_047426329
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047282284   ⟸   XM_047426328
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047282286   ⟸   XM_047426330
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054223537   ⟸   XM_054367562
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054223534   ⟸   XM_054367559
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054223532   ⟸   XM_054367557
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054223529   ⟸   XM_054367554
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054223526   ⟸   XM_054367551
- Peptide Label: isoform X2
- UniProtKB: Q9UPZ3 (UniProtKB/Swiss-Prot),   Q8N4U0 (UniProtKB/Swiss-Prot),   O95942 (UniProtKB/Swiss-Prot),   D3DQY0 (UniProtKB/Swiss-Prot),   D3DQX9 (UniProtKB/Swiss-Prot),   A8K8S1 (UniProtKB/Swiss-Prot),   A8K6J8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054223524   ⟸   XM_054367549
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223535   ⟸   XM_054367560
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054223533   ⟸   XM_054367558
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054223530   ⟸   XM_054367555
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054223527   ⟸   XM_054367552
- Peptide Label: isoform X2
- UniProtKB: Q9UPZ3 (UniProtKB/Swiss-Prot),   Q8N4U0 (UniProtKB/Swiss-Prot),   O95942 (UniProtKB/Swiss-Prot),   D3DQY0 (UniProtKB/Swiss-Prot),   D3DQX9 (UniProtKB/Swiss-Prot),   A8K8S1 (UniProtKB/Swiss-Prot),   A8K6J8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054223525   ⟸   XM_054367550
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223531   ⟸   XM_054367556
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054223528   ⟸   XM_054367553
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054223523   ⟸   XM_054367548
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223536   ⟸   XM_054367561
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054223538   ⟸   XM_054367563
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054223540   ⟸   XM_054367565
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054223539   ⟸   XM_054367564
- Peptide Label: isoform X9

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UPZ3-F1-model_v2 AlphaFold Q9UPZ3 1-1129 view protein structure

Promoters
RGD ID:6789045
Promoter ID:HG_KWN:12450
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001142307,   NM_005316,   NM_007216,   NM_181507,   NM_181508,   UC001MOG.1,   UC009YHM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361118,299,131 - 18,300,737 (-)MPROMDB
RGD ID:7219783
Promoter ID:EPDNEW_H15637
Type:initiation region
Name:HPS5_3
Description:HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15639  EPDNEW_H15641  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,322,130 - 18,322,190EPDNEW
RGD ID:7219787
Promoter ID:EPDNEW_H15639
Type:initiation region
Name:HPS5_1
Description:HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15637  EPDNEW_H15641  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,322,195 - 18,322,255EPDNEW
RGD ID:7219791
Promoter ID:EPDNEW_H15641
Type:initiation region
Name:HPS5_2
Description:HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15637  EPDNEW_H15639  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,322,501 - 18,322,561EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17022 AgrOrtholog
COSMIC HPS5 COSMIC
Ensembl Genes ENSG00000110756 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000288445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000349215 ENTREZGENE
  ENST00000349215.8 UniProtKB/Swiss-Prot
  ENST00000396253 ENTREZGENE
  ENST00000396253.7 UniProtKB/Swiss-Prot
  ENST00000438420 ENTREZGENE
  ENST00000438420.6 UniProtKB/Swiss-Prot
  ENST00000531848.1 UniProtKB/TrEMBL
  ENST00000537258.1 UniProtKB/TrEMBL
  ENST00000544218.5 UniProtKB/TrEMBL
  ENST00000671838.2 UniProtKB/Swiss-Prot
  ENST00000672223.1 UniProtKB/TrEMBL
  ENST00000672334.1 UniProtKB/Swiss-Prot
  ENST00000672381.1 UniProtKB/TrEMBL
  ENST00000672413.1 UniProtKB/Swiss-Prot
  ENST00000673322.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000110756 GTEx
  ENSG00000288445 GTEx
HGNC ID HGNC:17022 ENTREZGENE
Human Proteome Map HPS5 Human Proteome Map
InterPro HPS5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:11234 UniProtKB/Swiss-Prot
NCBI Gene HPS5 ENTREZGENE
OMIM 607521 OMIM
PANTHER HERMANSKY-PUDLAK SYNDROME 5 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RUBY-EYE2-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38432 PharmGKB
PIRSF BLOC-2_complex_Hps5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RNAcentral URS00008B7101 RNACentral
  URS00008C3156 RNACentral
  URS000195FC65 RNACentral
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot
UniProt A8K6J8 ENTREZGENE
  A8K8S1 ENTREZGENE
  D3DQX9 ENTREZGENE
  D3DQY0 ENTREZGENE
  F5GWM5_HUMAN UniProtKB/TrEMBL
  F5H6Q8_HUMAN UniProtKB/TrEMBL
  G3V159_HUMAN UniProtKB/TrEMBL
  HPS5_HUMAN UniProtKB/Swiss-Prot
  O95942 ENTREZGENE
  Q8N4U0 ENTREZGENE
  Q9UPZ3 ENTREZGENE
UniProt Secondary A8K6J8 UniProtKB/Swiss-Prot
  A8K8S1 UniProtKB/Swiss-Prot
  D3DQX9 UniProtKB/Swiss-Prot
  D3DQY0 UniProtKB/Swiss-Prot
  O95942 UniProtKB/Swiss-Prot
  Q8N4U0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 HPS5  HPS5 biogenesis of lysosomal organelles complex 2 subunit 2  HPS5  HPS5, biogenesis of lysosomal organelles complex 2 subunit 2  Symbol and/or name change 5135510 APPROVED
2016-02-29 HPS5  HPS5, biogenesis of lysosomal organelles complex 2 subunit 2  HPS5  Hermansky-Pudlak syndrome 5  Symbol and/or name change 5135510 APPROVED