HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) - Rat Genome Database

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Gene: HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) Homo sapiens
Analyze
Symbol: HPS1
Name: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
RGD ID: 1605436
HGNC Page HGNC:5163
Description: Enables protein dimerization activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in melanosome assembly. Located in BLOC-3 complex and cytoplasmic vesicle. Implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BLOC-3 complex member HPS1; BLOC3S1; Hermansky-Pudlak syndrome 1 protein; Hermansky-Pudlak syndrome 1 protein isoform; Hermansky-Pudlak syndrome type 1; HPS; HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; MGC5277
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100500719  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381098,413,948 - 98,446,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1098,410,939 - 98,446,963 (-)EnsemblGRCh38hg38GRCh38
GRCh3710100,175,955 - 100,206,692 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610100,165,946 - 100,196,694 (-)NCBINCBI36Build 36hg18NCBI36
Celera1093,912,577 - 93,943,330 (-)NCBICelera
Cytogenetic Map10q24.2NCBI
HuRef1093,800,790 - 93,831,456 (-)NCBIHuRef
CHM1_110100,457,816 - 100,488,565 (-)NCBICHM1_1
T2T-CHM13v2.01099,296,171 - 99,326,913 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
BLOC-3 complex  (IBA,IEA,IPI)
cytoplasm  (IDA,TAS)
cytoplasmic vesicle  (IDA)
cytosol  (TAS)
lysosome  (TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. Ito S, etal., J Invest Dermatol. 2005 Oct;125(4):715-20.
2. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Oh J, etal., Nat Genet. 1996 Nov;14(3):300-6.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7573033   PMID:8541858   PMID:9182823   PMID:9497254   PMID:9579545   PMID:10625677   PMID:10798370   PMID:10971344   PMID:11836498   PMID:12125811   PMID:12442288   PMID:12477932  
PMID:12663659   PMID:12756248   PMID:12847290   PMID:12923531   PMID:16020891   PMID:16344560   PMID:16385451   PMID:16417222   PMID:16431308   PMID:17207965   PMID:17365864   PMID:17975119  
PMID:18463683   PMID:19023099   PMID:19320733   PMID:19665357   PMID:19865097   PMID:20048159   PMID:20301464   PMID:20514622   PMID:20662851   PMID:21163940   PMID:21833017   PMID:21873635  
PMID:22623531   PMID:23084991   PMID:23103514   PMID:23174301   PMID:23251661   PMID:23324268   PMID:23668539   PMID:24134621   PMID:24583434   PMID:25400188   PMID:25468649   PMID:26186194  
PMID:26871637   PMID:27593200   PMID:27942505   PMID:28514442   PMID:33224134   PMID:33878481   PMID:33961781   PMID:34736469   PMID:35328057  


Genomics

Comparative Map Data
HPS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381098,413,948 - 98,446,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1098,410,939 - 98,446,963 (-)EnsemblGRCh38hg38GRCh38
GRCh3710100,175,955 - 100,206,692 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610100,165,946 - 100,196,694 (-)NCBINCBI36Build 36hg18NCBI36
Celera1093,912,577 - 93,943,330 (-)NCBICelera
Cytogenetic Map10q24.2NCBI
HuRef1093,800,790 - 93,831,456 (-)NCBIHuRef
CHM1_110100,457,816 - 100,488,565 (-)NCBICHM1_1
T2T-CHM13v2.01099,296,171 - 99,326,913 (-)NCBIT2T-CHM13v2.0
Hps1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391942,743,629 - 42,770,013 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1942,743,544 - 42,768,417 (-)EnsemblGRCm39 Ensembl
GRCm381942,755,190 - 42,780,015 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1942,755,105 - 42,779,978 (-)EnsemblGRCm38mm10GRCm38
MGSCv371942,829,686 - 42,854,466 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361942,806,145 - 42,831,956 (-)NCBIMGSCv36mm8
Celera1943,550,308 - 43,575,036 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1936.56NCBI
Hps1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81251,500,427 - 251,526,529 (-)NCBIGRCr8
mRatBN7.21241,551,180 - 241,577,292 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1241,551,175 - 241,577,268 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1249,696,451 - 249,721,235 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01256,393,616 - 256,418,400 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01249,046,621 - 249,071,405 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01261,989,178 - 262,015,282 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1261,989,178 - 262,015,153 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01269,441,344 - 269,467,562 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41248,109,643 - 248,134,450 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11248,224,231 - 248,249,039 (+)NCBI
Celera1237,383,206 - 237,407,908 (-)NCBICelera
Cytogenetic Map1q54NCBI
Hps1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555074,409,035 - 4,429,348 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555074,408,428 - 4,433,219 (-)NCBIChiLan1.0ChiLan1.0
HPS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28110,323,009 - 110,353,000 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110110,327,510 - 110,358,304 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01095,030,626 - 95,061,415 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11098,526,127 - 98,556,629 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1098,526,113 - 98,552,922 (-)Ensemblpanpan1.1panPan2
HPS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12811,547,457 - 11,572,248 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2811,547,741 - 11,571,613 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2811,730,977 - 11,755,779 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02811,874,100 - 11,898,877 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2811,874,114 - 11,895,578 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12811,557,831 - 11,582,599 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02811,594,730 - 11,619,480 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02811,734,462 - 11,759,221 (-)NCBIUU_Cfam_GSD_1.0
Hps1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721335,368,475 - 35,391,569 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366361,410,589 - 1,430,124 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366361,407,666 - 1,430,683 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HPS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14109,730,598 - 109,751,985 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114109,730,597 - 109,755,288 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HPS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1991,575,408 - 91,606,514 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl991,576,600 - 91,604,972 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604852,478,171 - 52,509,267 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hps1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473710,007,777 - 10,041,100 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473710,008,807 - 10,042,928 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HPS1
974 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000195.5(HPS1):c.398+2T>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003470646]|Hermansky-Pudlak syndrome [RCV001829480]|not provided [RCV000519155] Chr10:98435270 [GRCh38]
Chr10:100195027 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1189del (p.Gln397fs) deletion Hermansky-Pudlak syndrome 1 [RCV000020181]|Hermansky-Pudlak syndrome [RCV000851664]|not provided [RCV000796076] Chr10:98425687 [GRCh38]
Chr10:100185444 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1323dup (p.Gln442fs) duplication Hermansky-Pudlak syndrome 1 [RCV000020182] Chr10:98425552..98425553 [GRCh38]
Chr10:100185309..100185310 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1375del (p.Ser459fs) deletion Hermansky-Pudlak syndrome 1 [RCV003475104]|Hermansky-Pudlak syndrome [RCV001829292]|not provided [RCV002542778] Chr10:98424335 [GRCh38]
Chr10:100184092 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000020184]|Hermansky-Pudlak syndrome [RCV001273027]|not provided [RCV001518652]|not specified [RCV000150811] Chr10:98423813 [GRCh38]
Chr10:100183570 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.163ATC[1] (p.Ile56del) microsatellite Hermansky-Pudlak syndrome 1 [RCV000020185] Chr10:98435722..98435724 [GRCh38]
Chr10:100195479..100195481 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1691del (p.Lys564fs) deletion Hermansky-Pudlak syndrome 1 [RCV000020186] Chr10:98422421 [GRCh38]
Chr10:100182178 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1744-2A>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002482892]|Hermansky-Pudlak syndrome [RCV000851717]|not provided [RCV001058416] Chr10:98420160 [GRCh38]
Chr10:100179917 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1749G>A (p.Trp583Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000020188] Chr10:98420153 [GRCh38]
Chr10:100179910 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000020189]|Hermansky-Pudlak syndrome [RCV001273023]|not provided [RCV001518651]|not specified [RCV000150810] Chr10:98420094 [GRCh38]
Chr10:100179851 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) single nucleotide variant HPS1-related condition [RCV003914856]|Hermansky-Pudlak syndrome 1 [RCV000020190]|not provided [RCV000910982]|not specified [RCV001818168] Chr10:98418227 [GRCh38]
Chr10:100177984 [GRCh37]
Chr10:10q24.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) single nucleotide variant not provided [RCV002042388] Chr10:98417664 [GRCh38]
Chr10:100177421 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.288del (p.Asp97fs) deletion Hermansky-Pudlak syndrome 1 [RCV000020192] Chr10:98435382 [GRCh38]
Chr10:100195139 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.355del (p.His119fs) deletion Hermansky-Pudlak syndrome 1 [RCV000020193]|Hermansky-Pudlak syndrome [RCV001275007]|not provided [RCV001067590] Chr10:98435315 [GRCh38]
Chr10:100195072 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001804742]|Hermansky-Pudlak syndrome [RCV001826482]|not provided [RCV001206990] Chr10:98435279 [GRCh38]
Chr10:100195036 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.418del (p.Ala140fs) deletion Hermansky-Pudlak syndrome 1 [RCV000020195] Chr10:98434072 [GRCh38]
Chr10:100193829 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.532dup (p.Gln178fs) duplication not provided [RCV003557521] Chr10:98431266..98431267 [GRCh38]
Chr10:100191023..100191024 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003475214]|not provided [RCV001994585] Chr10:98430623 [GRCh38]
Chr10:100190380 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000020198]|Hermansky-Pudlak syndrome [RCV001273032]|not provided [RCV001514582]|not specified [RCV000155543] Chr10:98429811 [GRCh38]
Chr10:100189568 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.932del (p.Ser311fs) deletion Hermansky-Pudlak syndrome 1 [RCV000020199] Chr10:98429578 [GRCh38]
Chr10:100189335 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.962del (p.Gly321fs) deletion Hermansky-Pudlak syndrome 1 [RCV003475105]|Hermansky-Pudlak syndrome [RCV001829294]|not provided [RCV002034692] Chr10:98427240 [GRCh38]
Chr10:100186997 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.3(HPS1):c.972delC (p.Met325Trpfs) deletion Hermansky-Pudlak syndrome 1 [RCV000020201] Chr10:98427230 [GRCh38]
Chr10:100186987 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.3(HPS1):c.972dupC (p.Met325Hisfs) duplication Hermansky-Pudlak syndrome 1 [RCV000020202] Chr10:98427230 [GRCh38]
Chr10:100186987 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.974_975insC (p.Met325fs) insertion Hermansky-Pudlak syndrome 1 [RCV000020203] Chr10:98427227..98427228 [GRCh38]
Chr10:100186984..100186985 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) duplication Hermansky-Pudlak syndrome 1 [RCV000005595]|Hermansky-Pudlak syndrome [RCV000614559]|Inborn genetic diseases [RCV001266458]|not provided [RCV000482079] Chr10:98423797..98423798 [GRCh38]
Chr10:100183554..100183555 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.972dup (p.Met325fs) duplication Hermansky-Pudlak syndrome 1 [RCV000005596]|Hermansky-Pudlak syndrome [RCV000612428]|not provided [RCV000520943] Chr10:98427229..98427230 [GRCh38]
Chr10:100186986..100186987 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000005597]|Hermansky-Pudlak syndrome [RCV000851731] Chr10:98417671 [GRCh38]
Chr10:100177428 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.972del (p.Met325fs) deletion Hermansky-Pudlak syndrome 1 [RCV000005598]|Hermansky-Pudlak syndrome [RCV001273031]|not provided [RCV001058424] Chr10:98427230 [GRCh38]
Chr10:100186987 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000005599] Chr10:98435273 [GRCh38]
Chr10:100195030 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.962dup (p.Thr322fs) duplication Hermansky-Pudlak syndrome 1 [RCV000005600]|not provided [RCV000799915] Chr10:98427239..98427240 [GRCh38]
Chr10:100186996..100186997 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.398+5G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000005601]|Hermansky-Pudlak syndrome [RCV003387717]|not provided [RCV001851672] Chr10:98435267 [GRCh38]
Chr10:100195024 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1639G>T (p.Val547Leu) single nucleotide variant not provided [RCV001564057] Chr10:98422473 [GRCh38]
Chr10:100182230 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1189C>T (p.Gln397Ter) single nucleotide variant not provided [RCV000722869] Chr10:98425687 [GRCh38]
Chr10:100185444 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.192G>A (p.Lys64=) single nucleotide variant not provided [RCV001493984] Chr10:98435698 [GRCh38]
Chr10:100195455 [GRCh37]
Chr10:10q24.2		 likely benign
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
NM_000195.3(HPS1):c.174C>G (p.Ser58=) single nucleotide variant Malignant melanoma [RCV000061978] Chr10:98435716 [GRCh38]
Chr10:100195473 [GRCh37]
Chr10:100185463 [NCBI36]
Chr10:10q24.2		 not provided
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003987398]|not provided [RCV000171188] Chr10:98424315 [GRCh38]
Chr10:100184072 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001106275]|Hermansky-Pudlak syndrome [RCV001273025]|not provided [RCV000960269]|not specified [RCV000175128] Chr10:98422414 [GRCh38]
Chr10:100182171 [GRCh37]
Chr10:10q24.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000195.5(HPS1):c.1329G>T (p.Glu443Asp) single nucleotide variant not provided [RCV001907824] Chr10:98425547 [GRCh38]
Chr10:100185304 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000328922]|Hermansky-Pudlak syndrome [RCV001273026]|not provided [RCV000886799]|not specified [RCV000153369] Chr10:98422429 [GRCh38]
Chr10:100182186 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000195.5(HPS1):c.1599-15A>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000270401]|not provided [RCV001523601]|not specified [RCV000153370] Chr10:98422528 [GRCh38]
Chr10:100182285 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.597C>T (p.Pro199=) single nucleotide variant not provided [RCV000894029]|not specified [RCV000153372] Chr10:98431202 [GRCh38]
Chr10:100190959 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys) single nucleotide variant Hermansky-Pudlak syndrome [RCV001831976]|not specified [RCV000156424] Chr10:98434018 [GRCh38]
Chr10:100193775 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1397+8G>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000292180]|Hermansky-Pudlak syndrome [RCV001273029]|not provided [RCV001711592]|not specified [RCV000150812] Chr10:98424305 [GRCh38]
Chr10:100184062 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1397+7G>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000330835]|Hermansky-Pudlak syndrome [RCV001273030]|not provided [RCV001510624]|not specified [RCV000150813] Chr10:98424306 [GRCh38]
Chr10:100184063 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.297C>T (p.Thr99=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000262483]|Hermansky-Pudlak syndrome [RCV001275008]|not provided [RCV001522012]|not specified [RCV000150814] Chr10:98435373 [GRCh38]
Chr10:100195130 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000340154]|Hermansky-Pudlak syndrome [RCV001831938]|not provided [RCV001518343]|not specified [RCV000150815] Chr10:98443230 [GRCh38]
Chr10:100202987 [GRCh37]
Chr10:10q24.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000195.5(HPS1):c.636C>T (p.Leu212=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000400304]|Hermansky-Pudlak syndrome [RCV001273035]|not provided [RCV001518653]|not specified [RCV000153371] Chr10:98431163 [GRCh38]
Chr10:100190920 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000298673]|Hermansky-Pudlak syndrome [RCV001273022]|not provided [RCV000933569]|not specified [RCV000193961] Chr10:98417615 [GRCh38]
Chr10:100177372 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001108503]|Hermansky-Pudlak syndrome [RCV001275295]|not provided [RCV000896346]|not specified [RCV000195139] Chr10:98423754 [GRCh38]
Chr10:100183511 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000277636]|Hermansky-Pudlak syndrome [RCV001275006]|not provided [RCV000889847]|not specified [RCV000193377] Chr10:98431242 [GRCh38]
Chr10:100190999 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001106365]|not provided [RCV000888707]|not specified [RCV000195168] Chr10:98434012 [GRCh38]
Chr10:100193769 [GRCh37]
Chr10:10q24.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) single nucleotide variant HPS1-related condition [RCV003401266]|Hermansky-Pudlak syndrome 1 [RCV003444227]|Hermansky-Pudlak syndrome [RCV000267888]|not provided [RCV000379557] Chr10:98418200 [GRCh38]
Chr10:100177957 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1239G>T (p.Pro413=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001103325]|not provided [RCV000899784]|not specified [RCV000221162] Chr10:98425637 [GRCh38]
Chr10:100185394 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.988-44_1023delinsT indel Hermansky-Pudlak syndrome 1 [RCV001332268]|not provided [RCV000325733] Chr10:98425950..98426029 [GRCh38]
Chr10:100185707..100185786 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1397+7_1397+8delinsCT indel not provided [RCV000974620]|not specified [RCV000248665] Chr10:98424305..98424306 [GRCh38]
Chr10:100184062..100184063 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.1335+48G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001537972]|not provided [RCV001618369]|not specified [RCV000243900] Chr10:98425493 [GRCh38]
Chr10:100185250 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000332449]|Hermansky-Pudlak syndrome [RCV001833259]|not provided [RCV001523424]|not specified [RCV000253950] Chr10:98423758 [GRCh38]
Chr10:100183515 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.1167G>A (p.Ala389=) single nucleotide variant not provided [RCV001409614]|not specified [RCV000246984] Chr10:98425709 [GRCh38]
Chr10:100185466 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.669-17T>C single nucleotide variant not provided [RCV001513917]|not specified [RCV000251981] Chr10:98430687 [GRCh38]
Chr10:100190444 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.1599-7C>A single nucleotide variant not provided [RCV001405581]|not specified [RCV000249636] Chr10:98422520 [GRCh38]
Chr10:100182277 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.678C>T (p.Ala226=) single nucleotide variant not provided [RCV000888754]|not specified [RCV000242530] Chr10:98430661 [GRCh38]
Chr10:100190418 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.987+13T>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000334656]|not provided [RCV001519501]|not specified [RCV000252491] Chr10:98427202 [GRCh38]
Chr10:100186959 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.399-35G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001538001]|not provided [RCV001618370]|not specified [RCV000250237] Chr10:98434126 [GRCh38]
Chr10:100193883 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.*12C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000394985]|not provided [RCV001699412]|not specified [RCV000243447] Chr10:98417552 [GRCh38]
Chr10:100177309 [GRCh37]
Chr10:10q24.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp) single nucleotide variant HPS1-related condition [RCV003949999]|Hermansky-Pudlak syndrome 1 [RCV000300014]|Hermansky-Pudlak syndrome [RCV001275291]|Inborn genetic diseases [RCV002520517]|not provided [RCV000941001] Chr10:98417602 [GRCh38]
Chr10:100177359 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.*736C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000300340] Chr10:98416828 [GRCh38]
Chr10:100176585 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.-91T>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000344584] Chr10:98445390 [GRCh38]
Chr10:100205147 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000368888] Chr10:98435363 [GRCh38]
Chr10:100195120 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000369764]|Inborn genetic diseases [RCV004021458]|not provided [RCV001850574] Chr10:98431234 [GRCh38]
Chr10:100190991 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1887C>T (p.Pro629=) single nucleotide variant HPS1-related condition [RCV003967849]|Hermansky-Pudlak syndrome 1 [RCV000301915]|Hermansky-Pudlak syndrome [RCV001275293]|not provided [RCV000901178] Chr10:98418228 [GRCh38]
Chr10:100177985 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) single nucleotide variant HPS1-related condition [RCV003950000]|Hermansky-Pudlak syndrome 1 [RCV000285451]|Hermansky-Pudlak syndrome [RCV001275296]|not provided [RCV000879279] Chr10:98427250 [GRCh38]
Chr10:100187007 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000195.5(HPS1):c.*1005A>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000346499] Chr10:98416559 [GRCh38]
Chr10:100176316 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*1215_*1217delinsTCC indel Hermansky-Pudlak syndrome [RCV000285947] Chr10:98416347..98416349 [GRCh38]
Chr10:100176104..100176106 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.255+9A>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000372501]|Hermansky-Pudlak syndrome [RCV001275787]|not provided [RCV000956856]|not specified [RCV001820864] Chr10:98435626 [GRCh38]
Chr10:100195383 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000195.5(HPS1):c.-28G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000397963] Chr10:98445327 [GRCh38]
Chr10:100205084 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.-105-9C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000397966] Chr10:98445413 [GRCh38]
Chr10:100205170 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.*272C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000349108]|not provided [RCV001636855] Chr10:98417292 [GRCh38]
Chr10:100177049 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000373846]|Hermansky-Pudlak syndrome [RCV001828292]|not provided [RCV000982662] Chr10:98425590 [GRCh38]
Chr10:100185347 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.*1326C>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000373912] Chr10:98416238 [GRCh38]
Chr10:100175995 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.*982T>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000399568] Chr10:98416582 [GRCh38]
Chr10:100176339 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.808G>A (p.Val270Met) single nucleotide variant HPS1-related condition [RCV003417961]|Hermansky-Pudlak syndrome 1 [RCV000399526]|Hermansky-Pudlak syndrome [RCV001278952]|Inborn genetic diseases [RCV002522136]|not provided [RCV001363314] Chr10:98429850 [GRCh38]
Chr10:100189607 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000400626] Chr10:98417614 [GRCh38]
Chr10:100177371 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*452G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000288395] Chr10:98417112 [GRCh38]
Chr10:100176869 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.*955A>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000306927] Chr10:98416609 [GRCh38]
Chr10:100176366 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.*1167G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000376826] Chr10:98416397 [GRCh38]
Chr10:100176154 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.*626C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000377199] Chr10:98416938 [GRCh38]
Chr10:100176695 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000271346]|Hermansky-Pudlak syndrome [RCV001273024]|not provided [RCV000971568] Chr10:98420135 [GRCh38]
Chr10:100179892 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000308034]|Inborn genetic diseases [RCV004021457]|not provided [RCV002520520] Chr10:98431197 [GRCh38]
Chr10:100190954 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*1085G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000291579] Chr10:98416479 [GRCh38]
Chr10:100176236 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.-51C>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000292061] Chr10:98445350 [GRCh38]
Chr10:100205107 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.*706C>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000355076] Chr10:98416858 [GRCh38]
Chr10:100176615 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.*1217T>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000380320] Chr10:98416347 [GRCh38]
Chr10:100176104 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.*460C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000383133] Chr10:98417104 [GRCh38]
Chr10:100176861 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.*916G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000312998] Chr10:98416648 [GRCh38]
Chr10:100176405 [GRCh37]
Chr10:10q24.2		 benign|uncertain significance
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) single nucleotide variant HPS1-related condition [RCV003957556]|Hermansky-Pudlak syndrome 1 [RCV000360492]|Hermansky-Pudlak syndrome [RCV001275292]|not provided [RCV000910981]|not specified [RCV001820863] Chr10:98418187 [GRCh38]
Chr10:100177944 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.*589G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000264029] Chr10:98416975 [GRCh38]
Chr10:100176732 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000280246]|Hermansky-Pudlak syndrome [RCV001275789]|not provided [RCV000941063] Chr10:98435711 [GRCh38]
Chr10:100195468 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.*324T>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000296475] Chr10:98417240 [GRCh38]
Chr10:100176997 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.2058G>C (p.Gln686His) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000338403]|not provided [RCV003736695] Chr10:98417609 [GRCh38]
Chr10:100177366 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*694C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000260326] Chr10:98416870 [GRCh38]
Chr10:100176627 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.*1215C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000340825] Chr10:98416349 [GRCh38]
Chr10:100176106 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000366388]|not provided [RCV002520519] Chr10:98430647 [GRCh38]
Chr10:100190404 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000282732]|Hermansky-Pudlak syndrome [RCV001280126]|not provided [RCV000887877]|not specified [RCV001699294] Chr10:98443214 [GRCh38]
Chr10:100202971 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000195.5(HPS1):c.256-4G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000320001]|not provided [RCV001464181] Chr10:98435418 [GRCh38]
Chr10:100195175 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1940+6G>A single nucleotide variant not provided [RCV000337384] Chr10:98418169 [GRCh38]
Chr10:100177926 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.159G>A (p.Pro53=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000323694]|Hermansky-Pudlak syndrome [RCV001275009]|not provided [RCV000959884] Chr10:98435731 [GRCh38]
Chr10:100195488 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.1067A>C (p.Asn356Thr) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002494828]|not provided [RCV000279214] Chr10:98425906 [GRCh38]
Chr10:100185663 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*943C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000398906] Chr10:98416621 [GRCh38]
Chr10:100176378 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*473G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000328509] Chr10:98417091 [GRCh38]
Chr10:100176848 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.*766G>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000263865] Chr10:98416798 [GRCh38]
Chr10:100176555 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) single nucleotide variant HPS1-related condition [RCV003401283]|Hermansky-Pudlak syndrome 1 [RCV000309402]|Hermansky-Pudlak syndrome [RCV001828293]|not provided [RCV002520518]|not specified [RCV001844115] Chr10:98430644 [GRCh38]
Chr10:100190401 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.366G>A (p.Leu122=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000330601]|Hermansky-Pudlak syndrome [RCV001833427]|not provided [RCV001297858] Chr10:98435304 [GRCh38]
Chr10:100195061 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu) single nucleotide variant HPS1-related condition [RCV003920216]|Hermansky-Pudlak syndrome 1 [RCV000380587]|Inborn genetic diseases [RCV004021459]|not provided [RCV002059510] Chr10:98435768 [GRCh38]
Chr10:100195525 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.483G>T (p.Glu161Asp) single nucleotide variant not provided [RCV000260260] Chr10:98434007 [GRCh38]
Chr10:100193764 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.700C>T (p.Leu234=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001105236]|Hermansky-Pudlak syndrome [RCV001275297]|not provided [RCV000330842] Chr10:98430639 [GRCh38]
Chr10:100190396 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000195.5(HPS1):c.*1249G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000279567] Chr10:98416315 [GRCh38]
Chr10:100176072 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1709G>C (p.Gly570Ala) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278938]|not provided [RCV002537817] Chr10:98422403 [GRCh38]
Chr10:100182160 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.850G>A (p.Gly284Arg) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278950] Chr10:98429808 [GRCh38]
Chr10:100189565 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.31G>A (p.Ala11Thr) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002493501]|Hermansky-Pudlak syndrome [RCV001280125]|not provided [RCV002537876] Chr10:98443210 [GRCh38]
Chr10:100202967 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.320G>A (p.Arg107Gln) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002486048]|Hermansky-Pudlak syndrome [RCV001278957]|not provided [RCV002537821] Chr10:98435350 [GRCh38]
Chr10:100195107 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002501882]|Hermansky-Pudlak syndrome [RCV001832742]|not provided [RCV001548039] Chr10:98429811 [GRCh38]
Chr10:100189568 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*403G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000345692] Chr10:98417161 [GRCh38]
Chr10:100176918 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000381233]|not provided [RCV001453178] Chr10:98422465 [GRCh38]
Chr10:100182222 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.*1235G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000315900] Chr10:98416329 [GRCh38]
Chr10:100176086 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*768A>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000367628] Chr10:98416796 [GRCh38]
Chr10:100176553 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*327G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000388523] Chr10:98417237 [GRCh38]
Chr10:100176994 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*635T>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000322626] Chr10:98416929 [GRCh38]
Chr10:100176686 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*952T>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000352742] Chr10:98416612 [GRCh38]
Chr10:100176369 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000394179] Chr10:98427234 [GRCh38]
Chr10:100186991 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.-153del deletion Hermansky-Pudlak syndrome [RCV000314114] Chr10:98446854 [GRCh38]
Chr10:100206611 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.198G>A (p.Ser66=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000758238]|Hermansky-Pudlak syndrome [RCV001275788]|not provided [RCV000592415] Chr10:98435692 [GRCh38]
Chr10:100195449 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) indel HPS1-related condition [RCV003952955]|Hermansky-Pudlak syndrome 1 [RCV002497255]|not provided [RCV000941281]|not specified [RCV000592693] Chr10:98430659..98430661 [GRCh38]
Chr10:100190416..100190418 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) single nucleotide variant Hermansky-Pudlak syndrome [RCV001825464]|not provided [RCV000731072] Chr10:98423847 [GRCh38]
Chr10:100183604 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000195.5(HPS1):c.1653T>G (p.Thr551=) single nucleotide variant not provided [RCV000728502] Chr10:98422459 [GRCh38]
Chr10:100182216 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_000195.5(HPS1):c.848G>C (p.Gly283Ala) single nucleotide variant not provided [RCV000514776]|not specified [RCV000503539] Chr10:98429810 [GRCh38]
Chr10:100189567 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) deletion HPS1-related condition [RCV003419860]|Hermansky-Pudlak syndrome 1 [RCV000500361]|Hermansky-Pudlak syndrome [RCV001829427]|not provided [RCV001214000] Chr10:98435648..98435657 [GRCh38]
Chr10:100195405..100195414 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.242A>T (p.Tyr81Phe) single nucleotide variant not provided [RCV002527257]|not specified [RCV000502624] Chr10:98435648 [GRCh38]
Chr10:100195405 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.655G>T (p.Ala219Ser) single nucleotide variant not specified [RCV000500464] Chr10:98431144 [GRCh38]
Chr10:100190901 [GRCh37]
Chr10:10q24.2		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
NM_000195.5(HPS1):c.901T>G (p.Phe301Val) single nucleotide variant Inborn genetic diseases [RCV003279946] Chr10:98429609 [GRCh38]
Chr10:100189366 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.961G>T (p.Gly321Cys) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002476339]|not provided [RCV000594057] Chr10:98427241 [GRCh38]
Chr10:100186998 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.507+13C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001105237]|not provided [RCV002064173]|not specified [RCV000608964] Chr10:98433970 [GRCh38]
Chr10:100193727 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2		 pathogenic
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) single nucleotide variant HPS1-related condition [RCV003935602]|Hermansky-Pudlak syndrome [RCV001835865]|not provided [RCV000595994] Chr10:98423616 [GRCh38]
Chr10:100183373 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_000195.5(HPS1):c.1120del (p.Leu374fs) deletion not provided [RCV003690607] Chr10:98425853 [GRCh38]
Chr10:100185610 [GRCh37]
Chr10:10q24.2		 pathogenic
GRCh37/hg19 10q24.2(chr10:99923079-100191207)x1 copy number loss not provided [RCV000683218] Chr10:99923079..100191207 [GRCh37]
Chr10:10q24.2		 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_000195.5(HPS1):c.1857+2T>C single nucleotide variant HPS1-related condition [RCV003413557]|Hermansky-Pudlak syndrome 1 [RCV002493407]|Hermansky-Pudlak syndrome [RCV000851934]|not provided [RCV001215549] Chr10:98420043 [GRCh38]
Chr10:100179800 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_000195.5(HPS1):c.988-76G>A single nucleotide variant not provided [RCV001691400] Chr10:98426061 [GRCh38]
Chr10:100185818 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1744-294C>T single nucleotide variant not provided [RCV001691405] Chr10:98420452 [GRCh38]
Chr10:100180209 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1533-5G>C single nucleotide variant not provided [RCV000963663]|not specified [RCV001701383] Chr10:98423673 [GRCh38]
Chr10:100183430 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.1335+88A>G single nucleotide variant not provided [RCV001693076] Chr10:98425453 [GRCh38]
Chr10:100185210 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.702G>T (p.Leu234=) single nucleotide variant not provided [RCV000978640] Chr10:98430637 [GRCh38]
Chr10:100190394 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1029T>C (p.Pro343=) single nucleotide variant not provided [RCV000978716] Chr10:98425944 [GRCh38]
Chr10:100185701 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001003523]|Hermansky-Pudlak syndrome [RCV001827160] Chr10:98422480 [GRCh38]
Chr10:100182237 [GRCh37]
Chr10:10q24.2		 likely pathogenic|uncertain significance
NM_000195.5(HPS1):c.1716dup (p.Pro573fs) duplication not provided [RCV001061664] Chr10:98422395..98422396 [GRCh38]
Chr10:100182152..100182153 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1599-302G>A single nucleotide variant not provided [RCV001724654] Chr10:98422815 [GRCh38]
Chr10:100182572 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.207C>T (p.Tyr69=) single nucleotide variant not provided [RCV000982892] Chr10:98435683 [GRCh38]
Chr10:100195440 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1545G>A (p.Thr515=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002489231]|not provided [RCV000928505] Chr10:98423656 [GRCh38]
Chr10:100183413 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1940+9G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV001827012]|not provided [RCV000943903] Chr10:98418166 [GRCh38]
Chr10:100177923 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.204C>T (p.Thr68=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001108576]|Hermansky-Pudlak syndrome [RCV001832172]|not provided [RCV000944229] Chr10:98435686 [GRCh38]
Chr10:100195443 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1940+10C>T single nucleotide variant HPS1-related condition [RCV003942964]|not provided [RCV000942255] Chr10:98418165 [GRCh38]
Chr10:100177922 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.447C>T (p.Phe149=) single nucleotide variant HPS1-related condition [RCV003942893]|Hermansky-Pudlak syndrome [RCV001275785]|not provided [RCV000929374] Chr10:98434043 [GRCh38]
Chr10:100193800 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.54A>G (p.Thr18=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000758241]|not provided [RCV001506738] Chr10:98443187 [GRCh38]
Chr10:100202944 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1437C>T (p.Cys479=) single nucleotide variant not provided [RCV000940124] Chr10:98423848 [GRCh38]
Chr10:100183605 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1164C>T (p.Ser388=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002502776]|not provided [RCV000916847] Chr10:98425712 [GRCh38]
Chr10:100185469 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2037G>A (p.Leu679=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001105145]|Hermansky-Pudlak syndrome [RCV001832297]|not provided [RCV000983529] Chr10:98417630 [GRCh38]
Chr10:100177387 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.198G>C (p.Ser66=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002489276]|Hermansky-Pudlak syndrome [RCV001832175]|not provided [RCV000944513] Chr10:98435692 [GRCh38]
Chr10:100195449 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000856816] Chr10:98422455 [GRCh38]
Chr10:100182212 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.937+10G>A single nucleotide variant not provided [RCV000945046] Chr10:98429563 [GRCh38]
Chr10:100189320 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1398-9C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002489277]|not provided [RCV000945198] Chr10:98423896 [GRCh38]
Chr10:100183653 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1449G>A (p.Arg483=) single nucleotide variant not provided [RCV000977211] Chr10:98423836 [GRCh38]
Chr10:100183593 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.159G>T (p.Pro53=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001275790]|not provided [RCV000980243] Chr10:98435731 [GRCh38]
Chr10:100195488 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1341C>G (p.Thr447=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002479035]|not provided [RCV000901984] Chr10:98424369 [GRCh38]
Chr10:100184126 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.960G>A (p.Gly320=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278947]|not provided [RCV000903478] Chr10:98427242 [GRCh38]
Chr10:100186999 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.2001G>C (p.Leu667=) single nucleotide variant not provided [RCV000907645] Chr10:98417666 [GRCh38]
Chr10:100177423 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1532+5G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV001275294]|not provided [RCV000881911] Chr10:98423748 [GRCh38]
Chr10:100183505 [GRCh37]
Chr10:10q24.2		 benign|likely benign
GRCh37/hg19 10q24.2(chr10:100202251-100203482) copy number loss Hermansky-Pudlak syndrome 1 [RCV002280610] Chr10:100202251..100203482 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.507+2T>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000856814] Chr10:98433981 [GRCh38]
Chr10:100193738 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.551_552del (p.Ile184fs) deletion not provided [RCV000814819] Chr10:98431247..98431248 [GRCh38]
Chr10:100191004..100191005 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1974A>G (p.Pro658=) single nucleotide variant not provided [RCV000976722] Chr10:98417693 [GRCh38]
Chr10:100177450 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-2A>G single nucleotide variant not provided [RCV000795170] Chr10:98429891 [GRCh38]
Chr10:100189648 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.685C>T (p.Leu229=) single nucleotide variant not provided [RCV000916007] Chr10:98430654 [GRCh38]
Chr10:100190411 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter) single nucleotide variant Hermansky-Pudlak syndrome [RCV000851267]|not provided [RCV002538361] Chr10:98417611 [GRCh38]
Chr10:100177368 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
GRCh37/hg19 10q24.2(chr10:100067156-100257755)x1 copy number loss not provided [RCV000849262] Chr10:100067156..100257755 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.238del (p.Leu80fs) deletion Hermansky-Pudlak syndrome [RCV001827370]|not provided [RCV001058686] Chr10:98435652 [GRCh38]
Chr10:100195409 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.90C>T (p.Phe30=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001108577]|Hermansky-Pudlak syndrome [RCV001275791]|not provided [RCV000978297] Chr10:98443151 [GRCh38]
Chr10:100202908 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.501C>T (p.Ala167=) single nucleotide variant not provided [RCV000936441] Chr10:98433989 [GRCh38]
Chr10:100193746 [GRCh37]
Chr10:10q24.2		 likely benign
GRCh37/hg19 10q24.2(chr10:100138329-100488874)x3 copy number gain not provided [RCV001006349] Chr10:100138329..100488874 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) single nucleotide variant Hermansky-Pudlak syndrome [RCV000851266]|not provided [RCV003558611] Chr10:98424368 [GRCh38]
Chr10:100184125 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000851388] Chr10:98435703 [GRCh38]
Chr10:100195460 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.399-14G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000851390] Chr10:98434105 [GRCh38]
Chr10:100193862 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.820dup (p.Trp274fs) duplication not provided [RCV001045958] Chr10:98429837..98429838 [GRCh38]
Chr10:100189594..100189595 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003467767]|not provided [RCV001051995] Chr10:98423848 [GRCh38]
Chr10:100183605 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) deletion Hermansky-Pudlak syndrome 1 [RCV001780109]|not provided [RCV001202526] Chr10:98434014..98434023 [GRCh38]
Chr10:100193771..100193780 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.852del (p.Ser285fs) deletion Hermansky-Pudlak syndrome 1 [RCV003469361]|Hermansky-Pudlak syndrome [RCV001828706]|not provided [RCV001214312] Chr10:98429806 [GRCh38]
Chr10:100189563 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000851389]|Hermansky-Pudlak syndrome [RCV001825514] Chr10:98420095 [GRCh38]
Chr10:100179852 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) single nucleotide variant Hermansky-Pudlak syndrome [RCV000851655]|not specified [RCV002469283] Chr10:98425877 [GRCh38]
Chr10:100185634 [GRCh37]
Chr10:10q24.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly) single nucleotide variant Hermansky-Pudlak syndrome [RCV000851943] Chr10:98431284 [GRCh38]
Chr10:100191041 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.*719T>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001105043] Chr10:98416845 [GRCh38]
Chr10:100176602 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1989del (p.Arg663fs) deletion not provided [RCV001008902] Chr10:98417678 [GRCh38]
Chr10:100177435 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.*639G>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001106194] Chr10:98416925 [GRCh38]
Chr10:100176682 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1645C>T (p.Arg549Cys) single nucleotide variant Hermansky-Pudlak syndrome [RCV001827493]|not provided [RCV001568535] Chr10:98422467 [GRCh38]
Chr10:100182224 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1336-105C>G single nucleotide variant not provided [RCV001687459] Chr10:98424479 [GRCh38]
Chr10:100184236 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.987+279_987+280dup duplication not provided [RCV001614135] Chr10:98426926..98426927 [GRCh38]
Chr10:100186683..100186684 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1801C>T (p.Leu601=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001827018]|not provided [RCV000944311] Chr10:98420101 [GRCh38]
Chr10:100179858 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.588C>T (p.Asn196=) single nucleotide variant not provided [RCV000929657] Chr10:98431211 [GRCh38]
Chr10:100190968 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.847G>A (p.Gly283Arg) single nucleotide variant HPS1-related condition [RCV003895429]|Hermansky-Pudlak syndrome [RCV001273033]|not provided [RCV000885947] Chr10:98429811 [GRCh38]
Chr10:100189568 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1896C>T (p.Ser632=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001105148]|Hermansky-Pudlak syndrome [RCV001832045]|not provided [RCV000909080] Chr10:98418219 [GRCh38]
Chr10:100177976 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) single nucleotide variant HPS1-related condition [RCV003910533]|Hermansky-Pudlak syndrome 1 [RCV002495377]|Hermansky-Pudlak syndrome [RCV001273028]|Inborn genetic diseases [RCV004028378]|not provided [RCV000888751]|not specified [RCV001818649] Chr10:98423879 [GRCh38]
Chr10:100183636 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000195.5(HPS1):c.680G>T (p.Ser227Ile) single nucleotide variant HPS1-related condition [RCV003910534]|Inborn genetic diseases [RCV004028379]|not provided [RCV000888752]|not specified [RCV003155326] Chr10:98430659 [GRCh38]
Chr10:100190416 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.679A>G (p.Ser227Gly) single nucleotide variant Inborn genetic diseases [RCV004028380]|not provided [RCV000888753] Chr10:98430660 [GRCh38]
Chr10:100190417 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1677C>T (p.Leu559=) single nucleotide variant not provided [RCV000980221] Chr10:98422435 [GRCh38]
Chr10:100182192 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1089C>T (p.Pro363=) single nucleotide variant not provided [RCV000918867] Chr10:98425884 [GRCh38]
Chr10:100185641 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) single nucleotide variant Hermansky-Pudlak syndrome [RCV001273034]|not provided [RCV000954555]|not specified [RCV001702863] Chr10:98429879 [GRCh38]
Chr10:100189636 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.582T>G (p.Ala194=) single nucleotide variant not provided [RCV000930176] Chr10:98431217 [GRCh38]
Chr10:100190974 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001103326]|not provided [RCV000974466] Chr10:98429871 [GRCh38]
Chr10:100189628 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000195.5(HPS1):c.937+9C>T single nucleotide variant not provided [RCV000908645] Chr10:98429564 [GRCh38]
Chr10:100189321 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1940+7C>T single nucleotide variant not provided [RCV000941583] Chr10:98418168 [GRCh38]
Chr10:100177925 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1668G>A (p.Ala556=) single nucleotide variant not provided [RCV000981608] Chr10:98422444 [GRCh38]
Chr10:100182201 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.387T>C (p.Leu129=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001275786]|not provided [RCV000902196] Chr10:98435283 [GRCh38]
Chr10:100195040 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.*1043C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001103130] Chr10:98416521 [GRCh38]
Chr10:100176278 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1701G>A (p.Ser567=) single nucleotide variant not provided [RCV000911164] Chr10:98422411 [GRCh38]
Chr10:100182168 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) single nucleotide variant HPS1-related condition [RCV003940654]|Hermansky-Pudlak syndrome 1 [RCV002495386]|Hermansky-Pudlak syndrome [RCV001836000]|not provided [RCV000889910] Chr10:98443161 [GRCh38]
Chr10:100202918 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.1743+9T>A single nucleotide variant not provided [RCV000911923] Chr10:98422360 [GRCh38]
Chr10:100182117 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.*147_*148insTCCATGGTCTAAAACC insertion not provided [RCV001656786] Chr10:98417416..98417417 [GRCh38]
Chr10:100177173..100177174 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.398+290C>A single nucleotide variant not provided [RCV001578072] Chr10:98434982 [GRCh38]
Chr10:100194739 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.399-193G>T single nucleotide variant not provided [RCV001677859] Chr10:98434284 [GRCh38]
Chr10:100194041 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.399-54dup duplication not provided [RCV001596110] Chr10:98434140..98434141 [GRCh38]
Chr10:100193897..100193898 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1744-202G>A single nucleotide variant not provided [RCV001541433] Chr10:98420360 [GRCh38]
Chr10:100180117 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1335+124G>A single nucleotide variant not provided [RCV001636211] Chr10:98425417 [GRCh38]
Chr10:100185174 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.937+88C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001537974]|not provided [RCV001619950] Chr10:98429485 [GRCh38]
Chr10:100189242 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.768+126_768+127del deletion not provided [RCV001581920] Chr10:98430444..98430445 [GRCh38]
Chr10:100190201..100190202 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-128A>G single nucleotide variant not provided [RCV001608831] Chr10:98430017 [GRCh38]
Chr10:100189774 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.987+218del deletion not provided [RCV001650015] Chr10:98426997 [GRCh38]
Chr10:100186754 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.937+254C>G single nucleotide variant not provided [RCV001721778] Chr10:98429319 [GRCh38]
Chr10:100189076 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.398+145C>A single nucleotide variant not provided [RCV001613514] Chr10:98435127 [GRCh38]
Chr10:100194884 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.769-282T>C single nucleotide variant not provided [RCV001650356] Chr10:98430171 [GRCh38]
Chr10:100189928 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1398-130T>C single nucleotide variant not provided [RCV001614827] Chr10:98424017 [GRCh38]
Chr10:100183774 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.737C>T (p.Pro246Leu) single nucleotide variant not provided [RCV001699907] Chr10:98430602 [GRCh38]
Chr10:100190359 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.399-110T>C single nucleotide variant not provided [RCV001654102] Chr10:98434201 [GRCh38]
Chr10:100193958 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.937+157C>T single nucleotide variant not provided [RCV001715475] Chr10:98429416 [GRCh38]
Chr10:100189173 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.*1212T>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001108324] Chr10:98416352 [GRCh38]
Chr10:100176109 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*577C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001108404] Chr10:98416987 [GRCh38]
Chr10:100176744 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001105146] Chr10:98417699 [GRCh38]
Chr10:100177456 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*691G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001106193] Chr10:98416873 [GRCh38]
Chr10:100176630 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001106273]|Hermansky-Pudlak syndrome [RCV001828554]|not provided [RCV002558066] Chr10:98420056 [GRCh38]
Chr10:100179813 [GRCh37]
Chr10:10q24.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000195.5(HPS1):c.473G>A (p.Arg158His) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001106366]|not provided [RCV002558069] Chr10:98434017 [GRCh38]
Chr10:100193774 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.468C>T (p.Tyr156=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001106367]|Hermansky-Pudlak syndrome [RCV001278956]|not provided [RCV001411752] Chr10:98434022 [GRCh38]
Chr10:100193779 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001106274]|Hermansky-Pudlak syndrome [RCV001278937]|not provided [RCV001416687] Chr10:98420111 [GRCh38]
Chr10:100179868 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.*451C>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001108405] Chr10:98417113 [GRCh38]
Chr10:100176870 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001108504]|not provided [RCV001856446] Chr10:98423838 [GRCh38]
Chr10:100183595 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.987+58T>C single nucleotide variant not provided [RCV001669041] Chr10:98427157 [GRCh38]
Chr10:100186914 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.987+77C>T single nucleotide variant not provided [RCV001586461] Chr10:98427138 [GRCh38]
Chr10:100186895 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.507+253G>A single nucleotide variant not provided [RCV001685192] Chr10:98433730 [GRCh38]
Chr10:100193487 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.937+78C>T single nucleotide variant not provided [RCV001690151] Chr10:98429495 [GRCh38]
Chr10:100189252 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1598+140A>G single nucleotide variant not provided [RCV001611133] Chr10:98423463 [GRCh38]
Chr10:100183220 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.769-161C>T single nucleotide variant not provided [RCV001589839] Chr10:98430050 [GRCh38]
Chr10:100189807 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.938-111A>G single nucleotide variant not provided [RCV001713848] Chr10:98427375 [GRCh38]
Chr10:100187132 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.778C>T (p.Arg260Trp) single nucleotide variant not provided [RCV001574021] Chr10:98429880 [GRCh38]
Chr10:100189637 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001103235]|Inborn genetic diseases [RCV004032092]|not provided [RCV002556062]|not specified [RCV001195194] Chr10:98417601 [GRCh38]
Chr10:100177358 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.-219C>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001103407] Chr10:98446920 [GRCh38]
Chr10:100206677 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+1A>T single nucleotide variant not provided [RCV001234060] Chr10:98423602 [GRCh38]
Chr10:100183359 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) deletion Hermansky-Pudlak syndrome 1 [RCV003469434]|Hermansky-Pudlak syndrome [RCV001264553]|not provided [RCV001236063] Chr10:98418183 [GRCh38]
Chr10:100177940 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003313990]|Hermansky-Pudlak syndrome [RCV001264552]|not provided [RCV001206892] Chr10:98431282 [GRCh38]
Chr10:100191039 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.*968G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001103132] Chr10:98416596 [GRCh38]
Chr10:100176353 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*252C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001103234] Chr10:98417312 [GRCh38]
Chr10:100177069 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.*1001G>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001103131] Chr10:98416563 [GRCh38]
Chr10:100176320 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001103327]|not provided [RCV002556063] Chr10:98430597 [GRCh38]
Chr10:100190354 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys) single nucleotide variant HPS1-related condition [RCV003393842]|Hermansky-Pudlak syndrome 1 [RCV001105147]|not provided [RCV001856415] Chr10:98417716 [GRCh38]
Chr10:100177473 [GRCh37]
Chr10:10q24.2		 uncertain significance
GRCh37/hg19 10q24.2(chr10:100015920-100234444)x1 copy number loss not provided [RCV001258461] Chr10:100015920..100234444 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1473dup (p.Ser492fs) duplication Hermansky-Pudlak syndrome 1 [RCV003475196]|not provided [RCV001992670] Chr10:98423811..98423812 [GRCh38]
Chr10:100183568..100183569 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1977C>T (p.Thr659=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002504394]|Hermansky-Pudlak syndrome [RCV001278144]|not provided [RCV001482409] Chr10:98417690 [GRCh38]
Chr10:100177447 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.926A>G (p.Asp309Gly) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278948]|not provided [RCV002537819] Chr10:98429584 [GRCh38]
Chr10:100189341 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs) duplication Hermansky-Pudlak syndrome 1 [RCV001290770] Chr10:98425596..98425597 [GRCh38]
Chr10:100185353..100185354 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.780dup (p.Arg261fs) duplication Hermansky-Pudlak syndrome 1 [RCV001535829] Chr10:98429877..98429878 [GRCh38]
Chr10:100189634..100189635 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003473944]|not provided [RCV001383318] Chr10:98429844 [GRCh38]
Chr10:100189601 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1884G>T (p.Val628=) single nucleotide variant not provided [RCV001423205] Chr10:98418231 [GRCh38]
Chr10:100177988 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.937+192T>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001537973]|not provided [RCV001720307] Chr10:98429381 [GRCh38]
Chr10:100189138 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.118-54A>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001538002]|not provided [RCV001658260] Chr10:98435826 [GRCh38]
Chr10:100195583 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.553G>A (p.Glu185Lys) single nucleotide variant not provided [RCV001369779] Chr10:98431246 [GRCh38]
Chr10:100191003 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1837C>T (p.Leu613=) single nucleotide variant not provided [RCV001414749] Chr10:98420065 [GRCh38]
Chr10:100179822 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002480907]|Hermansky-Pudlak syndrome [RCV001278936]|not provided [RCV002542910] Chr10:98420106 [GRCh38]
Chr10:100179863 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1156-8A>C single nucleotide variant Hermansky-Pudlak syndrome [RCV001278944] Chr10:98425728 [GRCh38]
Chr10:100185485 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.741C>T (p.Ser247=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278953]|not provided [RCV002537820] Chr10:98430598 [GRCh38]
Chr10:100190355 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.378C>T (p.Asp126=) single nucleotide variant not provided [RCV001392447] Chr10:98435292 [GRCh38]
Chr10:100195049 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1398-8G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV001831193]|not provided [RCV001359864] Chr10:98423895 [GRCh38]
Chr10:100183652 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001334304]|Hermansky-Pudlak syndrome [RCV001830393] Chr10:98420139 [GRCh38]
Chr10:100179896 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.807C>T (p.Pro269=) single nucleotide variant not provided [RCV001397594] Chr10:98429851 [GRCh38]
Chr10:100189608 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002488182]|Hermansky-Pudlak syndrome [RCV001826111]|not provided [RCV001373107] Chr10:98429882 [GRCh38]
Chr10:100189639 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1766C>T (p.Ala589Val) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002499770]|Hermansky-Pudlak syndrome [RCV001831329]|not provided [RCV001373901] Chr10:98420136 [GRCh38]
Chr10:100179893 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1107G>A (p.Met369Ile) single nucleotide variant Hermansky-Pudlak syndrome [RCV001830344]|not provided [RCV001321832] Chr10:98425866 [GRCh38]
Chr10:100185623 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002486201]|Hermansky-Pudlak syndrome [RCV001835502]|Inborn genetic diseases [RCV004034132]|not provided [RCV001307625] Chr10:98427262 [GRCh38]
Chr10:100187019 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2087G>A (p.Arg696His) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002486034]|Hermansky-Pudlak syndrome [RCV001278142]|not provided [RCV001880246] Chr10:98417580 [GRCh38]
Chr10:100177337 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002480895]|Hermansky-Pudlak syndrome [RCV001278143]|not provided [RCV001372691] Chr10:98417599 [GRCh38]
Chr10:100177356 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1667C>T (p.Ala556Val) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278939]|not provided [RCV002542911] Chr10:98422445 [GRCh38]
Chr10:100182202 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1448G>A (p.Arg483Gln) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002504403]|Hermansky-Pudlak syndrome [RCV001278941]|Inborn genetic diseases [RCV002537818]|not provided [RCV002542912] Chr10:98423837 [GRCh38]
Chr10:100183594 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1431G>A (p.Gln477=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278942]|not provided [RCV001418678] Chr10:98423854 [GRCh38]
Chr10:100183611 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1285C>T (p.Arg429Cys) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278943] Chr10:98425591 [GRCh38]
Chr10:100185348 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.970C>G (p.Pro324Ala) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002486047]|Hermansky-Pudlak syndrome [RCV001278946]|Inborn genetic diseases [RCV003166605]|not provided [RCV001779150] Chr10:98427232 [GRCh38]
Chr10:100186989 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.614A>G (p.Glu205Gly) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278955] Chr10:98431185 [GRCh38]
Chr10:100190942 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.307G>T (p.Gly103Trp) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278958] Chr10:98435363 [GRCh38]
Chr10:100195120 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1855A>G (p.Met619Val) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278935]|not provided [RCV002537816] Chr10:98420047 [GRCh38]
Chr10:100179804 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.819C>T (p.Ala273=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278951]|not provided [RCV001433190] Chr10:98429839 [GRCh38]
Chr10:100189596 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.9C>T (p.Cys3=) single nucleotide variant HPS1-related condition [RCV003928816]|Hermansky-Pudlak syndrome [RCV001280127]|not provided [RCV001448491] Chr10:98443232 [GRCh38]
Chr10:100202989 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.875_878del (p.Asp292fs) microsatellite Hermansky-Pudlak syndrome 1 [RCV001290771] Chr10:98429632..98429635 [GRCh38]
Chr10:100189389..100189392 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer) deletion Hermansky-Pudlak syndrome 1 [RCV001334305] Chr10:98443160 [GRCh38]
Chr10:100202917 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1533-6C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002499907]|not provided [RCV001421734] Chr10:98423674 [GRCh38]
Chr10:100183431 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.237C>T (p.Phe79=) single nucleotide variant not provided [RCV001394711] Chr10:98435653 [GRCh38]
Chr10:100195410 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.723T>A (p.Val241=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278954]|not provided [RCV001407895] Chr10:98430616 [GRCh38]
Chr10:100190373 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1646G>A (p.Arg549His) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278940] Chr10:98422466 [GRCh38]
Chr10:100182223 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.973A>G (p.Met325Val) single nucleotide variant Hermansky-Pudlak syndrome [RCV001278945] Chr10:98427229 [GRCh38]
Chr10:100186986 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.924C>T (p.Gly308=) single nucleotide variant HPS1-related condition [RCV003908491]|Hermansky-Pudlak syndrome [RCV001278949] Chr10:98429586 [GRCh38]
Chr10:100189343 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.268C>G (p.Leu90Val) single nucleotide variant Hermansky-Pudlak syndrome [RCV001280124] Chr10:98435402 [GRCh38]
Chr10:100195159 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002499712]|not provided [RCV001355918] Chr10:98417650 [GRCh38]
Chr10:100177407 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.570C>T (p.His190=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002488229]|not provided [RCV001413249] Chr10:98431229 [GRCh38]
Chr10:100190986 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.303C>T (p.Ser101=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001831264]|not provided [RCV001366028] Chr10:98435367 [GRCh38]
Chr10:100195124 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.270G>A (p.Leu90=) single nucleotide variant not provided [RCV001482029] Chr10:98435400 [GRCh38]
Chr10:100195157 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.966C>T (p.Thr322=) single nucleotide variant not provided [RCV001427640] Chr10:98427236 [GRCh38]
Chr10:100186993 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.885C>T (p.Ser295=) single nucleotide variant not provided [RCV001501562] Chr10:98429625 [GRCh38]
Chr10:100189382 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.267C>T (p.Cys89=) single nucleotide variant not provided [RCV001495513] Chr10:98435403 [GRCh38]
Chr10:100195160 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1719G>A (p.Pro573=) single nucleotide variant not provided [RCV001468129] Chr10:98422393 [GRCh38]
Chr10:100182150 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+10C>T single nucleotide variant not provided [RCV001399014] Chr10:98423593 [GRCh38]
Chr10:100183350 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1335+7C>T single nucleotide variant not provided [RCV001481678] Chr10:98425534 [GRCh38]
Chr10:100185291 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.861A>T (p.Ala287=) single nucleotide variant not provided [RCV001469941] Chr10:98429797 [GRCh38]
Chr10:100189554 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1959C>T (p.Tyr653=) single nucleotide variant not provided [RCV001492290] Chr10:98417708 [GRCh38]
Chr10:100177465 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1156-7C>T single nucleotide variant not provided [RCV001475234] Chr10:98425727 [GRCh38]
Chr10:100185484 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1371C>T (p.Ser457=) single nucleotide variant not provided [RCV001485783] Chr10:98424339 [GRCh38]
Chr10:100184096 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.150C>T (p.Leu50=) single nucleotide variant not provided [RCV001499939] Chr10:98435740 [GRCh38]
Chr10:100195497 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1878C>T (p.Ile626=) single nucleotide variant not provided [RCV001502511] Chr10:98418237 [GRCh38]
Chr10:100177994 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1614C>T (p.Phe538=) single nucleotide variant not provided [RCV001483117] Chr10:98422498 [GRCh38]
Chr10:100182255 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.652C>T (p.Leu218=) single nucleotide variant not provided [RCV001457915] Chr10:98431147 [GRCh38]
Chr10:100190904 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1452G>A (p.Leu484=) single nucleotide variant not provided [RCV001451906] Chr10:98423833 [GRCh38]
Chr10:100183590 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1755G>A (p.Leu585=) single nucleotide variant not provided [RCV001468965] Chr10:98420147 [GRCh38]
Chr10:100179904 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.399-5C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002488282]|not provided [RCV001479166] Chr10:98434096 [GRCh38]
Chr10:100193853 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1377T>C (p.Ser459=) single nucleotide variant not provided [RCV001425463] Chr10:98424333 [GRCh38]
Chr10:100184090 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.387T>G (p.Leu129=) single nucleotide variant not provided [RCV001467724] Chr10:98435283 [GRCh38]
Chr10:100195040 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.909A>G (p.Pro303=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002501623]|not provided [RCV001469298] Chr10:98429601 [GRCh38]
Chr10:100189358 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1155+8A>G single nucleotide variant not provided [RCV001465516] Chr10:98425810 [GRCh38]
Chr10:100185567 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1744-6C>T single nucleotide variant not provided [RCV001492816] Chr10:98420164 [GRCh38]
Chr10:100179921 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1398-8G>C single nucleotide variant not provided [RCV001462332] Chr10:98423895 [GRCh38]
Chr10:100183652 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.399-4C>G single nucleotide variant not provided [RCV001439637] Chr10:98434095 [GRCh38]
Chr10:100193852 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.330T>C (p.Tyr110=) single nucleotide variant not provided [RCV001500669] Chr10:98435340 [GRCh38]
Chr10:100195097 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.600G>A (p.Glu200=) single nucleotide variant not provided [RCV001491718] Chr10:98431199 [GRCh38]
Chr10:100190956 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.420G>T (p.Ala140=) single nucleotide variant not provided [RCV001456528] Chr10:98434070 [GRCh38]
Chr10:100193827 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.81G>A (p.Arg27=) single nucleotide variant not provided [RCV001437511] Chr10:98443160 [GRCh38]
Chr10:100202917 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.475C>T (p.Leu159=) single nucleotide variant not provided [RCV001398173] Chr10:98434015 [GRCh38]
Chr10:100193772 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1860G>A (p.Gly620=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002495700]|not provided [RCV001472470] Chr10:98418255 [GRCh38]
Chr10:100178012 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1744-8T>C single nucleotide variant not provided [RCV001474744] Chr10:98420166 [GRCh38]
Chr10:100179923 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1359C>T (p.Ala453=) single nucleotide variant not provided [RCV001470820] Chr10:98424351 [GRCh38]
Chr10:100184108 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.564G>A (p.Glu188=) single nucleotide variant not provided [RCV001406318] Chr10:98431235 [GRCh38]
Chr10:100190992 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1245C>T (p.Pro415=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002504665]|Hermansky-Pudlak syndrome [RCV001831417]|not provided [RCV001398572] Chr10:98425631 [GRCh38]
Chr10:100185388 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1902C>T (p.Asp634=) single nucleotide variant not provided [RCV001460174] Chr10:98418213 [GRCh38]
Chr10:100177970 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.465C>G (p.Thr155=) single nucleotide variant not provided [RCV001489970] Chr10:98434025 [GRCh38]
Chr10:100193782 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1914C>T (p.Ile638=) single nucleotide variant not provided [RCV001488692] Chr10:98418201 [GRCh38]
Chr10:100177958 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1295_1298del (p.Met432fs) deletion not provided [RCV001389085] Chr10:98425578..98425581 [GRCh38]
Chr10:100185335..100185338 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.300G>A (p.Glu100=) single nucleotide variant not provided [RCV001406628] Chr10:98435370 [GRCh38]
Chr10:100195127 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1053C>T (p.Ile351=) single nucleotide variant not provided [RCV001445932] Chr10:98425920 [GRCh38]
Chr10:100185677 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1925del (p.Gly642fs) deletion Hermansky-Pudlak syndrome 1 [RCV003469647]|not provided [RCV001380350] Chr10:98418190 [GRCh38]
Chr10:100177947 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1098C>T (p.Pro366=) single nucleotide variant not provided [RCV001438706] Chr10:98425875 [GRCh38]
Chr10:100185632 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+9A>G single nucleotide variant not provided [RCV001432612] Chr10:98423594 [GRCh38]
Chr10:100183351 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2061G>A (p.Leu687=) single nucleotide variant not provided [RCV001446254] Chr10:98417606 [GRCh38]
Chr10:100177363 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.717C>G (p.Leu239=) single nucleotide variant not provided [RCV001443423] Chr10:98430622 [GRCh38]
Chr10:100190379 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.117+9A>G single nucleotide variant not provided [RCV001446019] Chr10:98443115 [GRCh38]
Chr10:100202872 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.988-1G>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003469730]|Hermansky-Pudlak syndrome [RCV001826175]|not provided [RCV001387339] Chr10:98425986 [GRCh38]
Chr10:100185743 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1728C>T (p.Ala576=) single nucleotide variant not provided [RCV001430392] Chr10:98422384 [GRCh38]
Chr10:100182141 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1401G>C (p.Leu467=) single nucleotide variant not provided [RCV001418628] Chr10:98423884 [GRCh38]
Chr10:100183641 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.180G>A (p.Thr60=) single nucleotide variant not provided [RCV001437372] Chr10:98435710 [GRCh38]
Chr10:100195467 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1599-4T>C single nucleotide variant not provided [RCV001409784] Chr10:98422517 [GRCh38]
Chr10:100182274 [GRCh37]
Chr10:10q24.2		 likely benign
NC_000010.10:g.(?_100177311)_(100187031_?)del deletion not provided [RCV001378621] Chr10:100177311..100187031 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.724C>T (p.Gln242Ter) single nucleotide variant not provided [RCV001380847] Chr10:98430615 [GRCh38]
Chr10:100190372 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.666T>C (p.Ser222=) single nucleotide variant not provided [RCV001405298] Chr10:98431133 [GRCh38]
Chr10:100190890 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.327G>T (p.Leu109=) single nucleotide variant not provided [RCV001440021] Chr10:98435343 [GRCh38]
Chr10:100195100 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1110C>T (p.Tyr370=) single nucleotide variant not provided [RCV001410189] Chr10:98425863 [GRCh38]
Chr10:100185620 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1858-7T>C single nucleotide variant not provided [RCV001410256] Chr10:98418264 [GRCh38]
Chr10:100178021 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.778C>A (p.Arg260=) single nucleotide variant not provided [RCV001405663] Chr10:98429880 [GRCh38]
Chr10:100189637 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.6G>A (p.Lys2=) single nucleotide variant not provided [RCV001429042] Chr10:98443235 [GRCh38]
Chr10:100202992 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1095G>A (p.Val365=) single nucleotide variant not provided [RCV001401567] Chr10:98425878 [GRCh38]
Chr10:100185635 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.153A>T (p.Leu51=) single nucleotide variant not provided [RCV001440592] Chr10:98435737 [GRCh38]
Chr10:100195494 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1383C>T (p.Pro461=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002501506]|not provided [RCV001425871] Chr10:98424327 [GRCh38]
Chr10:100184084 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.621G>C (p.Leu207=) single nucleotide variant not provided [RCV001408850] Chr10:98431178 [GRCh38]
Chr10:100190935 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1995C>T (p.Tyr665=) single nucleotide variant not provided [RCV001432349] Chr10:98417672 [GRCh38]
Chr10:100177429 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1090dup (p.Leu364fs) duplication Hermansky-Pudlak syndrome with pulmonary fibrosis [RCV001823204]|not provided [RCV001384632] Chr10:98425882..98425883 [GRCh38]
Chr10:100185639..100185640 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.507+15C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002501528]|not provided [RCV001432391] Chr10:98433968 [GRCh38]
Chr10:100193725 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.398+120A>G single nucleotide variant not provided [RCV001616840] Chr10:98435152 [GRCh38]
Chr10:100194909 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.507+225C>T single nucleotide variant not provided [RCV001619370] Chr10:98433758 [GRCh38]
Chr10:100193515 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.492G>A (p.Gln164=) single nucleotide variant not provided [RCV001450354] Chr10:98433998 [GRCh38]
Chr10:100193755 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1803G>C (p.Leu601=) single nucleotide variant not provided [RCV001478947] Chr10:98420099 [GRCh38]
Chr10:100179856 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1743+279A>G single nucleotide variant not provided [RCV001655439] Chr10:98422090 [GRCh38]
Chr10:100181847 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.398+200A>G single nucleotide variant not provided [RCV001694882] Chr10:98435072 [GRCh38]
Chr10:100194829 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.2052C>A (p.Ala684=) single nucleotide variant HPS1-related condition [RCV003900706]|not provided [RCV001495584] Chr10:98417615 [GRCh38]
Chr10:100177372 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1744-59A>G single nucleotide variant not provided [RCV001688633] Chr10:98420217 [GRCh38]
Chr10:100179974 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.988-9C>T single nucleotide variant not provided [RCV001473858] Chr10:98425994 [GRCh38]
Chr10:100185751 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1057C>T (p.Leu353=) single nucleotide variant HPS1-related condition [RCV003980584]|not provided [RCV001519975] Chr10:98425916 [GRCh38]
Chr10:100185673 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000195.5(HPS1):c.117+253G>T single nucleotide variant not provided [RCV001654537] Chr10:98442871 [GRCh38]
Chr10:100202628 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002506563]|Hermansky-Pudlak syndrome [RCV001826319]|not provided [RCV001487238] Chr10:98423876 [GRCh38]
Chr10:100183633 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1341C>T (p.Thr447=) single nucleotide variant not provided [RCV001455690] Chr10:98424369 [GRCh38]
Chr10:100184126 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.507+61C>G single nucleotide variant not provided [RCV001617695] Chr10:98433922 [GRCh38]
Chr10:100193679 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.696C>T (p.Ala232=) single nucleotide variant not provided [RCV001456093] Chr10:98430643 [GRCh38]
Chr10:100190400 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1089C>G (p.Pro363=) single nucleotide variant not provided [RCV001497793] Chr10:98425884 [GRCh38]
Chr10:100185641 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.398+313A>G single nucleotide variant not provided [RCV001670719] Chr10:98434959 [GRCh38]
Chr10:100194716 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.2014C>T (p.Leu672=) single nucleotide variant not provided [RCV001484429] Chr10:98417653 [GRCh38]
Chr10:100177410 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.507+214T>G single nucleotide variant not provided [RCV001724704] Chr10:98433769 [GRCh38]
Chr10:100193526 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.507+183A>G single nucleotide variant not provided [RCV001724705] Chr10:98433800 [GRCh38]
Chr10:100193557 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1038C>T (p.Ser346=) single nucleotide variant not provided [RCV001481442] Chr10:98425935 [GRCh38]
Chr10:100185692 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1887dup (p.Val630fs) duplication not provided [RCV001390353] Chr10:98418227..98418228 [GRCh38]
Chr10:100177984..100177985 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.483G>A (p.Glu161=) single nucleotide variant not provided [RCV001462653] Chr10:98434007 [GRCh38]
Chr10:100193764 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1272C>T (p.Leu424=) single nucleotide variant not provided [RCV001467232] Chr10:98425604 [GRCh38]
Chr10:100185361 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.508-7T>C single nucleotide variant not provided [RCV001453636] Chr10:98431298 [GRCh38]
Chr10:100191055 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.256-8G>T single nucleotide variant not provided [RCV001504799] Chr10:98435422 [GRCh38]
Chr10:100195179 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2100C>G (p.Leu700=) single nucleotide variant not provided [RCV001458679] Chr10:98417567 [GRCh38]
Chr10:100177324 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1899C>T (p.Asp633=) single nucleotide variant not provided [RCV001465821] Chr10:98418216 [GRCh38]
Chr10:100177973 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.558G>A (p.Ala186=) single nucleotide variant not provided [RCV001491548] Chr10:98431241 [GRCh38]
Chr10:100190998 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1905A>G (p.Ser635=) single nucleotide variant not provided [RCV001453529] Chr10:98418210 [GRCh38]
Chr10:100177967 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.619del (p.Leu207fs) deletion not provided [RCV001388719] Chr10:98431180 [GRCh38]
Chr10:100190937 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1398-6G>T single nucleotide variant not provided [RCV001415488] Chr10:98423893 [GRCh38]
Chr10:100183650 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.849G>A (p.Gly283=) single nucleotide variant not provided [RCV001459182] Chr10:98429809 [GRCh38]
Chr10:100189566 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1686T>C (p.Ser562=) single nucleotide variant not provided [RCV001454448] Chr10:98422426 [GRCh38]
Chr10:100182183 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.480G>A (p.Arg160=) single nucleotide variant not provided [RCV001463200] Chr10:98434010 [GRCh38]
Chr10:100193767 [GRCh37]
Chr10:10q24.2		 likely benign
NC_000010.10:g.(?_100193687)_(100203007_?)del deletion not provided [RCV001380203] Chr10:100193687..100203007 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.240G>A (p.Leu80=) single nucleotide variant not provided [RCV001476498] Chr10:98435650 [GRCh38]
Chr10:100195407 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.938G>A (p.Gly313Asp) single nucleotide variant not provided [RCV001438431] Chr10:98427264 [GRCh38]
Chr10:100187021 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1014G>A (p.Leu338=) single nucleotide variant not provided [RCV001454377] Chr10:98425959 [GRCh38]
Chr10:100185716 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1524G>A (p.Arg508=) single nucleotide variant not provided [RCV001467881] Chr10:98423761 [GRCh38]
Chr10:100183518 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1335+9C>G single nucleotide variant not provided [RCV001485303] Chr10:98425532 [GRCh38]
Chr10:100185289 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.279C>T (p.Ala93=) single nucleotide variant not provided [RCV001425872] Chr10:98435391 [GRCh38]
Chr10:100195148 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.759C>T (p.Asp253=) single nucleotide variant not provided [RCV001436875] Chr10:98430580 [GRCh38]
Chr10:100190337 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1839G>C (p.Leu613=) single nucleotide variant not provided [RCV001452233] Chr10:98420063 [GRCh38]
Chr10:100179820 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1167G>C (p.Ala389=) single nucleotide variant not provided [RCV001418522] Chr10:98425709 [GRCh38]
Chr10:100185466 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.768+64A>G single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001537975]|not provided [RCV001685456] Chr10:98430507 [GRCh38]
Chr10:100190264 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.30C>T (p.Gly10=) single nucleotide variant not provided [RCV001427108] Chr10:98443211 [GRCh38]
Chr10:100202968 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1239G>A (p.Pro413=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002499849]|not provided [RCV001401167] Chr10:98425637 [GRCh38]
Chr10:100185394 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.768+10C>A single nucleotide variant not provided [RCV001424944] Chr10:98430561 [GRCh38]
Chr10:100190318 [GRCh37]
Chr10:10q24.2		 likely benign
NC_000010.10:g.(?_99344461)_(105992004_?)dup duplication not provided [RCV003107322] Chr10:99344461..105992004 [GRCh37]
Chr10:10q24.2-25.1		 uncertain significance
NM_000195.5(HPS1):c.725A>G (p.Gln242Arg) single nucleotide variant not provided [RCV003108606] Chr10:98430614 [GRCh38]
Chr10:100190371 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.961G>A (p.Gly321Ser) single nucleotide variant Inborn genetic diseases [RCV004244572]|not provided [RCV003108919] Chr10:98427241 [GRCh38]
Chr10:100186998 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001782261]|not provided [RCV001822003] Chr10:98443232 [GRCh38]
Chr10:100202989 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1857+1G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV001782262]|not provided [RCV002034595] Chr10:98420044 [GRCh38]
Chr10:100179801 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.760G>A (p.Asp254Asn) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002496092]|not provided [RCV001767201] Chr10:98430579 [GRCh38]
Chr10:100190336 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.15G>C (p.Leu5Phe) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002488573]|not provided [RCV001767781]|not specified [RCV001821986] Chr10:98443226 [GRCh38]
Chr10:100202983 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1897G>A (p.Asp633Asn) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002488567]|not provided [RCV001765518] Chr10:98418218 [GRCh38]
Chr10:100177975 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1353T>G (p.Phe451Leu) single nucleotide variant Inborn genetic diseases [RCV003199155] Chr10:98424357 [GRCh38]
Chr10:100184114 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.769-110GGTGGAGG[4] microsatellite not provided [RCV001763610] Chr10:98429975..98429976 [GRCh38]
Chr10:100189732..100189733 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1294A>T (p.Met432Leu) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002477966]|not provided [RCV001758566] Chr10:98425582 [GRCh38]
Chr10:100185339 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.768+173C>T single nucleotide variant not provided [RCV001733139] Chr10:98430398 [GRCh38]
Chr10:100190155 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) deletion Hermansky-Pudlak syndrome 1 [RCV002503326]|not provided [RCV001817700] Chr10:98423826..98423845 [GRCh38]
Chr10:100183583..100183602 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.2009T>C (p.Leu670Pro) single nucleotide variant not provided [RCV001817281] Chr10:98417658 [GRCh38]
Chr10:100177415 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002482352]|not provided [RCV002541966]|not specified [RCV001822295] Chr10:98422394 [GRCh38]
Chr10:100182151 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1744-5C>T single nucleotide variant not provided [RCV002077289]|not specified [RCV001819200] Chr10:98420163 [GRCh38]
Chr10:100179920 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.277G>A (p.Ala93Thr) single nucleotide variant not specified [RCV001819233] Chr10:98435393 [GRCh38]
Chr10:100195150 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1377T>G (p.Ser459Arg) single nucleotide variant not provided [RCV001988130] Chr10:98424333 [GRCh38]
Chr10:100184090 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.214_217del (p.Phe72fs) deletion not provided [RCV001928110] Chr10:98435673..98435676 [GRCh38]
Chr10:100195430..100195433 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1050G>T (p.Arg350Ser) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002482488]|not provided [RCV001872082] Chr10:98425923 [GRCh38]
Chr10:100185680 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1773A>G (p.Arg591=) single nucleotide variant not provided [RCV002008372] Chr10:98420129 [GRCh38]
Chr10:100179886 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1787G>T (p.Gly596Val) single nucleotide variant Hermansky-Pudlak syndrome [RCV001829305] Chr10:98420115 [GRCh38]
Chr10:100179872 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) single nucleotide variant Hermansky-Pudlak syndrome [RCV001829295] Chr10:98429582 [GRCh38]
Chr10:100189339 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1652C>T (p.Thr551Ile) single nucleotide variant not provided [RCV001965549] Chr10:98422460 [GRCh38]
Chr10:100182217 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.860C>T (p.Ala287Val) single nucleotide variant not provided [RCV002043768] Chr10:98429798 [GRCh38]
Chr10:100189555 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1156-10_1170del deletion not provided [RCV001971019] Chr10:98425706..98425730 [GRCh38]
Chr10:100185463..100185487 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002479459]|not provided [RCV001929360] Chr10:98423858 [GRCh38]
Chr10:100183615 [GRCh37]
Chr10:10q24.2		 uncertain significance
NC_000010.10:g.(?_100177311)_(100190437_?)del deletion not provided [RCV001982876] Chr10:100177311..100190437 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys) single nucleotide variant Hermansky-Pudlak syndrome [RCV001829290] Chr10:98417671 [GRCh38]
Chr10:100177428 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1858-1G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003470938]|Hermansky-Pudlak syndrome [RCV001829300]|not provided [RCV002034693] Chr10:98418258 [GRCh38]
Chr10:100178015 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003470939]|Hermansky-Pudlak syndrome [RCV001829311] Chr10:98423772 [GRCh38]
Chr10:100183529 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.917C>A (p.Ser306Tyr) single nucleotide variant not provided [RCV001893022] Chr10:98429593 [GRCh38]
Chr10:100189350 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1743+1G>A single nucleotide variant not provided [RCV002006758] Chr10:98422368 [GRCh38]
Chr10:100182125 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.551T>C (p.Ile184Thr) single nucleotide variant not provided [RCV002042505] Chr10:98431248 [GRCh38]
Chr10:100191005 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.201C>G (p.Asp67Glu) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002503429]|not provided [RCV001947381] Chr10:98435689 [GRCh38]
Chr10:100195446 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter) single nucleotide variant Hermansky-Pudlak syndrome [RCV001829291] Chr10:98423778 [GRCh38]
Chr10:100183535 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly) single nucleotide variant Hermansky-Pudlak syndrome [RCV001829297]|not provided [RCV002542780] Chr10:98435354 [GRCh38]
Chr10:100195111 [GRCh37]
Chr10:10q24.2		 likely pathogenic|uncertain significance
NM_000195.5(HPS1):c.316C>T (p.Arg106Trp) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002479651]|Inborn genetic diseases [RCV002573526]|not provided [RCV001985819] Chr10:98435354 [GRCh38]
Chr10:100195111 [GRCh37]
Chr10:10q24.2		 uncertain significance
NC_000010.10:g.(?_100177321)_(101611388_?)del deletion not provided [RCV001983006] Chr10:100177321..101611388 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1870C>T (p.Gln624Ter) single nucleotide variant not provided [RCV002002226] Chr10:98418245 [GRCh38]
Chr10:100178002 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.2057A>G (p.Gln686Arg) single nucleotide variant not provided [RCV002543297]|not specified [RCV001844465] Chr10:98417610 [GRCh38]
Chr10:100177367 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1973C>T (p.Pro658Leu) single nucleotide variant not provided [RCV002007129] Chr10:98417694 [GRCh38]
Chr10:100177451 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1124G>A (p.Trp375Ter) single nucleotide variant not provided [RCV001913194] Chr10:98425849 [GRCh38]
Chr10:100185606 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002484540]|not provided [RCV001910371] Chr10:98422415 [GRCh38]
Chr10:100182172 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003470937]|Hermansky-Pudlak syndrome [RCV001829293]|not provided [RCV002542779] Chr10:98425561 [GRCh38]
Chr10:100185318 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys) single nucleotide variant Hermansky-Pudlak syndrome [RCV001829296] Chr10:98418178 [GRCh38]
Chr10:100177935 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1337G>A (p.Ser446Asn) single nucleotide variant not provided [RCV002018031] Chr10:98424373 [GRCh38]
Chr10:100184130 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.868-1G>C single nucleotide variant not provided [RCV001961406] Chr10:98429643 [GRCh38]
Chr10:100189400 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1517T>C (p.Val506Ala) single nucleotide variant not provided [RCV002038121] Chr10:98423768 [GRCh38]
Chr10:100183525 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1940+2T>C single nucleotide variant HPS1-related condition [RCV003426221]|Hermansky-Pudlak syndrome 1 [RCV003470960]|not provided [RCV001888087] Chr10:98418173 [GRCh38]
Chr10:100177930 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1155+17C>T single nucleotide variant not provided [RCV001942223] Chr10:98425801 [GRCh38]
Chr10:100185558 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.987+1G>T single nucleotide variant not provided [RCV002030867] Chr10:98427214 [GRCh38]
Chr10:100186971 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002503560]|Inborn genetic diseases [RCV004042680]|not provided [RCV001935305]|not specified [RCV003987934] Chr10:98435281 [GRCh38]
Chr10:100195038 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.788G>A (p.Arg263Gln) single nucleotide variant not provided [RCV001922420] Chr10:98429870 [GRCh38]
Chr10:100189627 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1900G>T (p.Asp634Tyr) single nucleotide variant not provided [RCV001882372] Chr10:98418215 [GRCh38]
Chr10:100177972 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1593G>C (p.Met531Ile) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003446973]|not provided [RCV001963468] Chr10:98423608 [GRCh38]
Chr10:100183365 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1956C>T (p.Tyr652=) single nucleotide variant not provided [RCV001941565] Chr10:98417711 [GRCh38]
Chr10:100177468 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.329A>T (p.Tyr110Phe) single nucleotide variant not provided [RCV001930697] Chr10:98435341 [GRCh38]
Chr10:100195098 [GRCh37]
Chr10:10q24.2		 uncertain significance
NC_000010.10:g.(?_100177321)_(100185762_?)del deletion not provided [RCV001951562] Chr10:100177321..100185762 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.419C>T (p.Ala140Val) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002479414]|not provided [RCV001951823] Chr10:98434071 [GRCh38]
Chr10:100193828 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.598G>A (p.Glu200Lys) single nucleotide variant HPS1-related condition [RCV003892998]|Inborn genetic diseases [RCV003170089]|not provided [RCV001955946] Chr10:98431201 [GRCh38]
Chr10:100190958 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.97_100del (p.Ser33fs) deletion not provided [RCV001902605] Chr10:98443141..98443144 [GRCh38]
Chr10:100202898..100202901 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1137C>G (p.Asn379Lys) single nucleotide variant not provided [RCV002051087] Chr10:98425836 [GRCh38]
Chr10:100185593 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.303C>A (p.Ser101Arg) single nucleotide variant not provided [RCV001952279] Chr10:98435367 [GRCh38]
Chr10:100195124 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002490096]|not provided [RCV001881291] Chr10:98443158 [GRCh38]
Chr10:100202915 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1207T>C (p.Ser403Pro) single nucleotide variant not provided [RCV001974785] Chr10:98425669 [GRCh38]
Chr10:100185426 [GRCh37]
Chr10:10q24.2		 uncertain significance
NC_000010.10:g.(?_100202871)_(100203007_?)del deletion not provided [RCV001972588] Chr10:100202871..100203007 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.699C>A (p.Asp233Glu) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002498033]|not provided [RCV002048096] Chr10:98430640 [GRCh38]
Chr10:100190397 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1224G>C (p.Lys408Asn) single nucleotide variant not provided [RCV002026868] Chr10:98425652 [GRCh38]
Chr10:100185409 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1286G>C (p.Arg429Pro) single nucleotide variant not provided [RCV001960984] Chr10:98425590 [GRCh38]
Chr10:100185347 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.768+2T>C single nucleotide variant not provided [RCV001998902] Chr10:98430569 [GRCh38]
Chr10:100190326 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1700C>T (p.Ser567Leu) single nucleotide variant not provided [RCV001992780] Chr10:98422412 [GRCh38]
Chr10:100182169 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1123T>C (p.Trp375Arg) single nucleotide variant not provided [RCV001898341] Chr10:98425850 [GRCh38]
Chr10:100185607 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2087G>C (p.Arg696Pro) single nucleotide variant not provided [RCV001879264] Chr10:98417580 [GRCh38]
Chr10:100177337 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.937G>A (p.Gly313Ser) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003475168]|not provided [RCV001935606] Chr10:98429573 [GRCh38]
Chr10:100189330 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.2081C>T (p.Ala694Val) single nucleotide variant not provided [RCV002034036] Chr10:98417586 [GRCh38]
Chr10:100177343 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.118-3C>T single nucleotide variant not provided [RCV001972267] Chr10:98435775 [GRCh38]
Chr10:100195532 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1209del (p.Met404fs) deletion not provided [RCV001972450] Chr10:98425667 [GRCh38]
Chr10:100185424 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.867G>A (p.Thr289=) single nucleotide variant not provided [RCV001900331] Chr10:98429791 [GRCh38]
Chr10:100189548 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1039G>A (p.Gly347Ser) single nucleotide variant not provided [RCV001904551] Chr10:98425934 [GRCh38]
Chr10:100185691 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1243C>T (p.Pro415Ser) single nucleotide variant not provided [RCV001975431] Chr10:98425633 [GRCh38]
Chr10:100185390 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1018C>A (p.Pro340Thr) single nucleotide variant not provided [RCV002035557] Chr10:98425955 [GRCh38]
Chr10:100185712 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1533-5G>A single nucleotide variant not provided [RCV001997136] Chr10:98423673 [GRCh38]
Chr10:100183430 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1268C>G (p.Pro423Arg) single nucleotide variant not provided [RCV001885744] Chr10:98425608 [GRCh38]
Chr10:100185365 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.284A>G (p.Asn95Ser) single nucleotide variant Inborn genetic diseases [RCV004039050]|not provided [RCV001884254] Chr10:98435386 [GRCh38]
Chr10:100195143 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.921del (p.Gly308fs) deletion not provided [RCV001883567] Chr10:98429589 [GRCh38]
Chr10:100189346 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1718C>T (p.Pro573Leu) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002478367]|Inborn genetic diseases [RCV003247143]|not provided [RCV001940026] Chr10:98422394 [GRCh38]
Chr10:100182151 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.844A>G (p.Thr282Ala) single nucleotide variant not provided [RCV001940383] Chr10:98429814 [GRCh38]
Chr10:100189571 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1379A>G (p.Glu460Gly) single nucleotide variant not provided [RCV001937181] Chr10:98424331 [GRCh38]
Chr10:100184088 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1036T>C (p.Ser346Pro) single nucleotide variant not provided [RCV002010803] Chr10:98425937 [GRCh38]
Chr10:100185694 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.871A>T (p.Thr291Ser) single nucleotide variant not provided [RCV001897436] Chr10:98429639 [GRCh38]
Chr10:100189396 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1666dup (p.Ala556fs) duplication not provided [RCV002047244] Chr10:98422445..98422446 [GRCh38]
Chr10:100182202..100182203 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.846dup (p.Gly283fs) duplication not provided [RCV001866635] Chr10:98429811..98429812 [GRCh38]
Chr10:100189568..100189569 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1118C>A (p.Pro373His) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002482683]|not provided [RCV001881623] Chr10:98425855 [GRCh38]
Chr10:100185612 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.669-20C>A single nucleotide variant not provided [RCV001956122] Chr10:98430690 [GRCh38]
Chr10:100190447 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.508-10C>T single nucleotide variant not provided [RCV002090226] Chr10:98431301 [GRCh38]
Chr10:100191058 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+11G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002494373]|not provided [RCV002130120] Chr10:98423592 [GRCh38]
Chr10:100183349 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.465C>T (p.Thr155=) single nucleotide variant not provided [RCV002166933] Chr10:98434025 [GRCh38]
Chr10:100193782 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.777G>A (p.Pro259=) single nucleotide variant not provided [RCV002105275] Chr10:98429881 [GRCh38]
Chr10:100189638 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1532+14G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002500267]|not provided [RCV002129071] Chr10:98423739 [GRCh38]
Chr10:100183496 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.867+10G>C single nucleotide variant not provided [RCV002207098] Chr10:98429781 [GRCh38]
Chr10:100189538 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.668+18C>A single nucleotide variant not provided [RCV002128963] Chr10:98431113 [GRCh38]
Chr10:100190870 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.507+20G>A single nucleotide variant not provided [RCV002208436] Chr10:98433963 [GRCh38]
Chr10:100193720 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.708C>T (p.Ala236=) single nucleotide variant not provided [RCV002167515] Chr10:98430631 [GRCh38]
Chr10:100190388 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1540C>T (p.Leu514=) single nucleotide variant not provided [RCV002109547] Chr10:98423661 [GRCh38]
Chr10:100183418 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.256-8G>A single nucleotide variant not provided [RCV002208662] Chr10:98435422 [GRCh38]
Chr10:100195179 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.147C>T (p.Thr49=) single nucleotide variant not provided [RCV002105583] Chr10:98435743 [GRCh38]
Chr10:100195500 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1533-10C>T single nucleotide variant not provided [RCV002072410] Chr10:98423678 [GRCh38]
Chr10:100183435 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1068C>T (p.Asn356=) single nucleotide variant not provided [RCV002186268] Chr10:98425905 [GRCh38]
Chr10:100185662 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1336-16C>G single nucleotide variant not provided [RCV002190984] Chr10:98424390 [GRCh38]
Chr10:100184147 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.855C>T (p.Ser285=) single nucleotide variant not provided [RCV002109198] Chr10:98429803 [GRCh38]
Chr10:100189560 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.988-4G>A single nucleotide variant not provided [RCV002071487] Chr10:98425989 [GRCh38]
Chr10:100185746 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.234C>T (p.Asn78=) single nucleotide variant not provided [RCV002106636] Chr10:98435656 [GRCh38]
Chr10:100195413 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002245363] Chr10:98431189 [GRCh38]
Chr10:100190946 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.420G>A (p.Ala140=) single nucleotide variant not provided [RCV002167715] Chr10:98434070 [GRCh38]
Chr10:100193827 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.474C>G (p.Arg158=) single nucleotide variant not provided [RCV002169920] Chr10:98434016 [GRCh38]
Chr10:100193773 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.993A>G (p.Ala331=) single nucleotide variant not provided [RCV002148022] Chr10:98425980 [GRCh38]
Chr10:100185737 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.21C>G (p.Ala7=) single nucleotide variant not provided [RCV002071787] Chr10:98443220 [GRCh38]
Chr10:100202977 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.118-10A>G single nucleotide variant not provided [RCV002107415] Chr10:98435782 [GRCh38]
Chr10:100195539 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-4del deletion not provided [RCV002195928] Chr10:98429893 [GRCh38]
Chr10:100189650 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1155+12C>T single nucleotide variant not provided [RCV002079434] Chr10:98425806 [GRCh38]
Chr10:100185563 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.24T>G (p.Thr8=) single nucleotide variant not provided [RCV002132712] Chr10:98443217 [GRCh38]
Chr10:100202974 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.398+8T>G single nucleotide variant not provided [RCV002077034] Chr10:98435264 [GRCh38]
Chr10:100195021 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.171C>T (p.Ser57=) single nucleotide variant not provided [RCV002113602] Chr10:98435719 [GRCh38]
Chr10:100195476 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.118-5del deletion not provided [RCV002097004] Chr10:98435777 [GRCh38]
Chr10:100195534 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.507+9T>C single nucleotide variant not provided [RCV002077740] Chr10:98433974 [GRCh38]
Chr10:100193731 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1156-9T>C single nucleotide variant not provided [RCV002115579] Chr10:98425729 [GRCh38]
Chr10:100185486 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1752T>C (p.Ser584=) single nucleotide variant not provided [RCV002079223] Chr10:98420150 [GRCh38]
Chr10:100179907 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1320G>A (p.Gly440=) single nucleotide variant not provided [RCV002175058] Chr10:98425556 [GRCh38]
Chr10:100185313 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1398-14TC[2] microsatellite not provided [RCV002206864] Chr10:98423896..98423897 [GRCh38]
Chr10:100183653..100183654 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.336C>G (p.Leu112=) single nucleotide variant not provided [RCV002114223] Chr10:98435334 [GRCh38]
Chr10:100195091 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.669-8G>A single nucleotide variant not provided [RCV002113066] Chr10:98430678 [GRCh38]
Chr10:100190435 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1026C>T (p.Cys342=) single nucleotide variant not provided [RCV002085090] Chr10:98425947 [GRCh38]
Chr10:100185704 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1533-16G>C single nucleotide variant not provided [RCV002077532] Chr10:98423684 [GRCh38]
Chr10:100183441 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+7T>C single nucleotide variant not provided [RCV002116212] Chr10:98423596 [GRCh38]
Chr10:100183353 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1532+13C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002494112]|not provided [RCV002212708] Chr10:98423740 [GRCh38]
Chr10:100183497 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1940+9_1940+10delinsAA indel not provided [RCV002131492] Chr10:98418165..98418166 [GRCh38]
Chr10:100177922..100177923 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1449G>C (p.Arg483=) single nucleotide variant not provided [RCV002170100] Chr10:98423836 [GRCh38]
Chr10:100183593 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.867+11T>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002479867]|not provided [RCV002197383] Chr10:98429780 [GRCh38]
Chr10:100189537 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1482A>C (p.Gly494=) single nucleotide variant not provided [RCV002078043] Chr10:98423803 [GRCh38]
Chr10:100183560 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.75T>C (p.Ser25=) single nucleotide variant not provided [RCV002110612] Chr10:98443166 [GRCh38]
Chr10:100202923 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1734C>T (p.Val578=) single nucleotide variant not provided [RCV002110727] Chr10:98422378 [GRCh38]
Chr10:100182135 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1743+17A>C single nucleotide variant not provided [RCV002079461] Chr10:98422352 [GRCh38]
Chr10:100182109 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.984T>C (p.Leu328=) single nucleotide variant not provided [RCV002196527] Chr10:98427218 [GRCh38]
Chr10:100186975 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.118-19T>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002500276]|not provided [RCV002134247] Chr10:98435791 [GRCh38]
Chr10:100195548 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1797G>A (p.Thr599=) single nucleotide variant not provided [RCV002089818] Chr10:98420105 [GRCh38]
Chr10:100179862 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.372T>C (p.Thr124=) single nucleotide variant not provided [RCV002077492] Chr10:98435298 [GRCh38]
Chr10:100195055 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1857+8_1857+10del deletion not provided [RCV002185542] Chr10:98420035..98420037 [GRCh38]
Chr10:100179792..100179794 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.903C>T (p.Phe301=) single nucleotide variant not provided [RCV002087170] Chr10:98429607 [GRCh38]
Chr10:100189364 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.255+20G>A single nucleotide variant not provided [RCV002129535] Chr10:98435615 [GRCh38]
Chr10:100195372 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1122G>A (p.Leu374=) single nucleotide variant not provided [RCV002173126] Chr10:98425851 [GRCh38]
Chr10:100185608 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1941-4C>T single nucleotide variant not provided [RCV002153038] Chr10:98417730 [GRCh38]
Chr10:100177487 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1176C>T (p.Ala392=) single nucleotide variant not provided [RCV002096753] Chr10:98425700 [GRCh38]
Chr10:100185457 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.636C>G (p.Leu212=) single nucleotide variant not provided [RCV002169357] Chr10:98431163 [GRCh38]
Chr10:100190920 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1884G>A (p.Val628=) single nucleotide variant not provided [RCV002153182] Chr10:98418231 [GRCh38]
Chr10:100177988 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1156-20C>T single nucleotide variant not provided [RCV002077837] Chr10:98425740 [GRCh38]
Chr10:100185497 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.333G>T (p.Val111=) single nucleotide variant not provided [RCV002094802] Chr10:98435337 [GRCh38]
Chr10:100195094 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.210C>G (p.Thr70=) single nucleotide variant not provided [RCV002152052] Chr10:98435680 [GRCh38]
Chr10:100195437 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.996G>A (p.Glu332=) single nucleotide variant not provided [RCV002096384] Chr10:98425977 [GRCh38]
Chr10:100185734 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1815G>A (p.Gly605=) single nucleotide variant not provided [RCV002174671] Chr10:98420087 [GRCh38]
Chr10:100179844 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.498C>T (p.Phe166=) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002494477]|not provided [RCV002151501] Chr10:98433992 [GRCh38]
Chr10:100193749 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.888C>T (p.Leu296=) single nucleotide variant not provided [RCV002095228] Chr10:98429622 [GRCh38]
Chr10:100189379 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1155+18C>T single nucleotide variant not provided [RCV002158989] Chr10:98425800 [GRCh38]
Chr10:100185557 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1467A>G (p.Thr489=) single nucleotide variant not provided [RCV002197823] Chr10:98423818 [GRCh38]
Chr10:100183575 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.582T>C (p.Ala194=) single nucleotide variant not provided [RCV002137493] Chr10:98431217 [GRCh38]
Chr10:100190974 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.343C>T (p.Leu115=) single nucleotide variant not provided [RCV002154792] Chr10:98435327 [GRCh38]
Chr10:100195084 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+19C>A single nucleotide variant not provided [RCV002101452] Chr10:98423584 [GRCh38]
Chr10:100183341 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1953C>A (p.Arg651=) single nucleotide variant not provided [RCV002180531] Chr10:98417714 [GRCh38]
Chr10:100177471 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1812G>A (p.Glu604=) single nucleotide variant not provided [RCV002178869] Chr10:98420090 [GRCh38]
Chr10:100179847 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.118-9T>C single nucleotide variant not provided [RCV002142807] Chr10:98435781 [GRCh38]
Chr10:100195538 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.141C>G (p.Leu47=) single nucleotide variant not provided [RCV002184466] Chr10:98435749 [GRCh38]
Chr10:100195506 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1734C>G (p.Val578=) single nucleotide variant not provided [RCV002119538] Chr10:98422378 [GRCh38]
Chr10:100182135 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.969C>T (p.Pro323=) single nucleotide variant not provided [RCV002216766] Chr10:98427233 [GRCh38]
Chr10:100186990 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2095C>T (p.Leu699=) single nucleotide variant not provided [RCV002098167] Chr10:98417572 [GRCh38]
Chr10:100177329 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.507+14G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002500254]|not provided [RCV002137881] Chr10:98433969 [GRCh38]
Chr10:100193726 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1779G>A (p.Leu593=) single nucleotide variant not provided [RCV002143632] Chr10:98420123 [GRCh38]
Chr10:100179880 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1533-16G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002500010]|not provided [RCV002122521] Chr10:98423684 [GRCh38]
Chr10:100183441 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.294C>T (p.His98=) single nucleotide variant not provided [RCV002184149] Chr10:98435376 [GRCh38]
Chr10:100195133 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.938-17T>C single nucleotide variant not provided [RCV002160776] Chr10:98427281 [GRCh38]
Chr10:100187038 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1908G>A (p.Val636=) single nucleotide variant not provided [RCV002099916] Chr10:98418207 [GRCh38]
Chr10:100177964 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+13C>T single nucleotide variant not provided [RCV002098113] Chr10:98423590 [GRCh38]
Chr10:100183347 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.180G>T (p.Thr60=) single nucleotide variant not provided [RCV002182578] Chr10:98435710 [GRCh38]
Chr10:100195467 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1192C>T (p.Leu398=) single nucleotide variant not provided [RCV002182590] Chr10:98425684 [GRCh38]
Chr10:100185441 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.138G>A (p.Gln46=) single nucleotide variant not provided [RCV002158227] Chr10:98435752 [GRCh38]
Chr10:100195509 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2100C>T (p.Leu700=) single nucleotide variant not provided [RCV002161516] Chr10:98417567 [GRCh38]
Chr10:100177324 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1578G>A (p.Arg526=) single nucleotide variant not provided [RCV002136162] Chr10:98423623 [GRCh38]
Chr10:100183380 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+14G>A single nucleotide variant not provided [RCV002136436]|not specified [RCV003994406] Chr10:98423589 [GRCh38]
Chr10:100183346 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1821C>T (p.Phe607=) single nucleotide variant not provided [RCV002099029] Chr10:98420081 [GRCh38]
Chr10:100179838 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.885C>A (p.Ser295=) single nucleotide variant not provided [RCV002162440] Chr10:98429625 [GRCh38]
Chr10:100189382 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.870G>A (p.Glu290=) single nucleotide variant not provided [RCV002180338] Chr10:98429640 [GRCh38]
Chr10:100189397 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1459C>T (p.Leu487=) single nucleotide variant not provided [RCV002216567] Chr10:98423826 [GRCh38]
Chr10:100183583 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1858-5C>T single nucleotide variant HPS1-related condition [RCV003903612]|not provided [RCV002201826] Chr10:98418262 [GRCh38]
Chr10:100178019 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1401G>T (p.Leu467=) single nucleotide variant not provided [RCV002175897] Chr10:98423884 [GRCh38]
Chr10:100183641 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1161C>T (p.Pro387=) single nucleotide variant not provided [RCV002081787] Chr10:98425715 [GRCh38]
Chr10:100185472 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1185G>A (p.Leu395=) single nucleotide variant not provided [RCV002183600] Chr10:98425691 [GRCh38]
Chr10:100185448 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1179G>C (p.Leu393=) single nucleotide variant not provided [RCV002175813] Chr10:98425697 [GRCh38]
Chr10:100185454 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1854C>T (p.Asp618=) single nucleotide variant not provided [RCV002102485] Chr10:98420048 [GRCh38]
Chr10:100179805 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1845C>T (p.Phe615=) single nucleotide variant not provided [RCV002156778] Chr10:98420057 [GRCh38]
Chr10:100179814 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1728C>G (p.Ala576=) single nucleotide variant not provided [RCV002183723] Chr10:98422384 [GRCh38]
Chr10:100182141 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1533-17C>T single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002500400]|not provided [RCV002181630] Chr10:98423685 [GRCh38]
Chr10:100183442 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.987+7T>C single nucleotide variant not provided [RCV002176832] Chr10:98427208 [GRCh38]
Chr10:100186965 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.546G>A (p.Leu182=) single nucleotide variant not provided [RCV002140586] Chr10:98431253 [GRCh38]
Chr10:100191010 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.336C>T (p.Leu112=) single nucleotide variant not provided [RCV003110877] Chr10:98435334 [GRCh38]
Chr10:100195091 [GRCh37]
Chr10:10q24.2		 likely benign
NC_000010.11:g.98417727del deletion not provided [RCV003110234] Chr10:98417726 [GRCh38]
Chr10:100177483 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.435G>A (p.Leu145=) single nucleotide variant not provided [RCV003115232] Chr10:98434055 [GRCh38]
Chr10:100193812 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1434C>T (p.Leu478=) single nucleotide variant not provided [RCV003115993] Chr10:98423851 [GRCh38]
Chr10:100183608 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.319C>T (p.Arg107Trp) single nucleotide variant not provided [RCV003115619] Chr10:98435351 [GRCh38]
Chr10:100195108 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1532+8C>A single nucleotide variant not provided [RCV003112845] Chr10:98423745 [GRCh38]
Chr10:100183502 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.567G>A (p.Arg189=) single nucleotide variant not provided [RCV003121682] Chr10:98431232 [GRCh38]
Chr10:100190989 [GRCh37]
Chr10:10q24.2		 likely benign
NC_000010.10:g.(?_100182106)_(100191068_?)del deletion not provided [RCV003122165] Chr10:100182106..100191068 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.689G>A (p.Arg230His) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002245364]|not provided [RCV003093961] Chr10:98430650 [GRCh38]
Chr10:100190407 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1744-149G>A single nucleotide variant not provided [RCV002285697] Chr10:98420307 [GRCh38]
Chr10:100180064 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2086C>T (p.Arg696Cys) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV002264880] Chr10:98417581 [GRCh38]
Chr10:100177338 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.769-191C>T single nucleotide variant not provided [RCV002285641] Chr10:98430080 [GRCh38]
Chr10:100189837 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1131C>T (p.Gly377=) single nucleotide variant HPS1-related condition [RCV003973621]|not provided [RCV002991538] Chr10:98425842 [GRCh38]
Chr10:100185599 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1018C>T (p.Pro340Ser) single nucleotide variant not provided [RCV002303907] Chr10:98425955 [GRCh38]
Chr10:100185712 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.806C>A (p.Pro269His) single nucleotide variant not provided [RCV002304084] Chr10:98429852 [GRCh38]
Chr10:100189609 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1907T>C (p.Val636Ala) single nucleotide variant not provided [RCV002303009] Chr10:98418208 [GRCh38]
Chr10:100177965 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.938-6C>T single nucleotide variant not provided [RCV003014020] Chr10:98427270 [GRCh38]
Chr10:100187027 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.60G>A (p.Gln20=) single nucleotide variant not provided [RCV002816550] Chr10:98443181 [GRCh38]
Chr10:100202938 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.786C>T (p.Ala262=) single nucleotide variant not provided [RCV002861928] Chr10:98429872 [GRCh38]
Chr10:100189629 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.121C>T (p.Pro41Ser) single nucleotide variant not provided [RCV002730741] Chr10:98435769 [GRCh38]
Chr10:100195526 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.848G>T (p.Gly283Val) single nucleotide variant not provided [RCV003075461] Chr10:98429810 [GRCh38]
Chr10:100189567 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1565T>C (p.Leu522Pro) single nucleotide variant not provided [RCV002780157] Chr10:98423636 [GRCh38]
Chr10:100183393 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.825C>T (p.Ser275=) single nucleotide variant not provided [RCV002880703] Chr10:98429833 [GRCh38]
Chr10:100189590 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1232A>C (p.Glu411Ala) single nucleotide variant Inborn genetic diseases [RCV002732325] Chr10:98425644 [GRCh38]
Chr10:100185401 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.255+7C>G single nucleotide variant not provided [RCV002617865] Chr10:98435628 [GRCh38]
Chr10:100195385 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.596C>T (p.Pro199Leu) single nucleotide variant not provided [RCV002819504] Chr10:98431203 [GRCh38]
Chr10:100190960 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2030C>G (p.Thr677Ser) single nucleotide variant not provided [RCV002614849] Chr10:98417637 [GRCh38]
Chr10:100177394 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.253C>T (p.Leu85=) single nucleotide variant not provided [RCV002975500] Chr10:98435637 [GRCh38]
Chr10:100195394 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.543G>A (p.Glu181=) single nucleotide variant not provided [RCV002996995] Chr10:98431256 [GRCh38]
Chr10:100191013 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.317G>A (p.Arg106Gln) single nucleotide variant not provided [RCV003073994] Chr10:98435353 [GRCh38]
Chr10:100195110 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1120C>T (p.Leu374=) single nucleotide variant not provided [RCV002774853] Chr10:98425853 [GRCh38]
Chr10:100185610 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.487G>A (p.Glu163Lys) single nucleotide variant not provided [RCV003075127] Chr10:98434003 [GRCh38]
Chr10:100193760 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.866C>T (p.Thr289Met) single nucleotide variant Inborn genetic diseases [RCV003060193]|not provided [RCV003073774] Chr10:98429792 [GRCh38]
Chr10:100189549 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1652C>G (p.Thr551Ser) single nucleotide variant not provided [RCV002995686] Chr10:98422460 [GRCh38]
Chr10:100182217 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.706G>C (p.Ala236Pro) single nucleotide variant not provided [RCV002904787] Chr10:98430633 [GRCh38]
Chr10:100190390 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.868-4C>T single nucleotide variant not provided [RCV002994791] Chr10:98429646 [GRCh38]
Chr10:100189403 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.520C>T (p.Leu174=) single nucleotide variant not provided [RCV003095490] Chr10:98431279 [GRCh38]
Chr10:100191036 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.57T>C (p.Asp19=) single nucleotide variant not provided [RCV003016541] Chr10:98443184 [GRCh38]
Chr10:100202941 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1740T>G (p.Thr580=) single nucleotide variant not provided [RCV003033263] Chr10:98422372 [GRCh38]
Chr10:100182129 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1146C>T (p.Leu382=) single nucleotide variant not provided [RCV002971218] Chr10:98425827 [GRCh38]
Chr10:100185584 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.256-6C>A single nucleotide variant not provided [RCV002816633] Chr10:98435420 [GRCh38]
Chr10:100195177 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1930G>A (p.Asp644Asn) single nucleotide variant not provided [RCV002751303] Chr10:98418185 [GRCh38]
Chr10:100177942 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.111AGA[1] (p.Glu39del) microsatellite not provided [RCV002613543] Chr10:98443125..98443127 [GRCh38]
Chr10:100202882..100202884 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.769-9C>T single nucleotide variant not provided [RCV002775683] Chr10:98429898 [GRCh38]
Chr10:100189655 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1532+15G>A single nucleotide variant not provided [RCV002681267] Chr10:98423738 [GRCh38]
Chr10:100183495 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1705T>C (p.Leu569=) single nucleotide variant not provided [RCV003016879] Chr10:98422407 [GRCh38]
Chr10:100182164 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.72G>C (p.Glu24Asp) single nucleotide variant Inborn genetic diseases [RCV004067927]|not provided [RCV002756140] Chr10:98443169 [GRCh38]
Chr10:100202926 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.273C>T (p.Phe91=) single nucleotide variant not provided [RCV002618553] Chr10:98435397 [GRCh38]
Chr10:100195154 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1698G>C (p.Ser566=) single nucleotide variant not provided [RCV002819283] Chr10:98422414 [GRCh38]
Chr10:100182171 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.256-7C>T single nucleotide variant not provided [RCV003097621] Chr10:98435421 [GRCh38]
Chr10:100195178 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.310G>C (p.Asp104His) single nucleotide variant Inborn genetic diseases [RCV002864722] Chr10:98435360 [GRCh38]
Chr10:100195117 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.826C>G (p.Pro276Ala) single nucleotide variant not provided [RCV002991724] Chr10:98429832 [GRCh38]
Chr10:100189589 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1326G>A (p.Gln442=) single nucleotide variant not provided [RCV002815902] Chr10:98425550 [GRCh38]
Chr10:100185307 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1265A>G (p.Gln422Arg) single nucleotide variant not provided [RCV002975036] Chr10:98425611 [GRCh38]
Chr10:100185368 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1095G>T (p.Val365=) single nucleotide variant not provided [RCV002818975] Chr10:98425878 [GRCh38]
Chr10:100185635 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.36G>A (p.Glu12=) single nucleotide variant not provided [RCV002818983] Chr10:98443205 [GRCh38]
Chr10:100202962 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2004G>A (p.Leu668=) single nucleotide variant not provided [RCV002617823] Chr10:98417663 [GRCh38]
Chr10:100177420 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1633A>G (p.Ile545Val) single nucleotide variant not provided [RCV003076322] Chr10:98422479 [GRCh38]
Chr10:100182236 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.10G>A (p.Val4Ile) single nucleotide variant not provided [RCV002889450] Chr10:98443231 [GRCh38]
Chr10:100202988 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.601C>T (p.Arg201Trp) single nucleotide variant not provided [RCV002953536] Chr10:98431198 [GRCh38]
Chr10:100190955 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.174C>T (p.Ser58=) single nucleotide variant not provided [RCV003038861] Chr10:98435716 [GRCh38]
Chr10:100195473 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1908G>T (p.Val636=) single nucleotide variant not provided [RCV002886611] Chr10:98418207 [GRCh38]
Chr10:100177964 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1743+9T>C single nucleotide variant not provided [RCV002696100] Chr10:98422360 [GRCh38]
Chr10:100182117 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2071C>T (p.Leu691Phe) single nucleotide variant not provided [RCV002785928] Chr10:98417596 [GRCh38]
Chr10:100177353 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.637G>A (p.Val213Met) single nucleotide variant not provided [RCV003081379] Chr10:98431162 [GRCh38]
Chr10:100190919 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1155+1G>C single nucleotide variant not provided [RCV003039550] Chr10:98425817 [GRCh38]
Chr10:100185574 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.849G>T (p.Gly283=) single nucleotide variant not provided [RCV002889375] Chr10:98429809 [GRCh38]
Chr10:100189566 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1945C>T (p.Leu649Phe) single nucleotide variant not provided [RCV003039128] Chr10:98417722 [GRCh38]
Chr10:100177479 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1940+5C>T single nucleotide variant not provided [RCV002953666] Chr10:98418170 [GRCh38]
Chr10:100177927 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.25G>T (p.Glu9Ter) single nucleotide variant not provided [RCV003021270] Chr10:98443216 [GRCh38]
Chr10:100202973 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1324C>T (p.Gln442Ter) single nucleotide variant not provided [RCV002761075] Chr10:98425552 [GRCh38]
Chr10:100185309 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1469C>T (p.Ala490Val) single nucleotide variant not provided [RCV003080188] Chr10:98423816 [GRCh38]
Chr10:100183573 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1656G>A (p.Gly552=) single nucleotide variant not provided [RCV002706152] Chr10:98422456 [GRCh38]
Chr10:100182213 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.750A>C (p.Thr250=) single nucleotide variant not provided [RCV002909627] Chr10:98430589 [GRCh38]
Chr10:100190346 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.425G>A (p.Arg142His) single nucleotide variant not provided [RCV003100325] Chr10:98434065 [GRCh38]
Chr10:100193822 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.201C>T (p.Asp67=) single nucleotide variant not provided [RCV003037952] Chr10:98435689 [GRCh38]
Chr10:100195446 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.750A>G (p.Thr250=) single nucleotide variant not provided [RCV002619641] Chr10:98430589 [GRCh38]
Chr10:100190346 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.254T>C (p.Leu85Pro) single nucleotide variant Inborn genetic diseases [RCV002999577]|not provided [RCV002999576] Chr10:98435636 [GRCh38]
Chr10:100195393 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1238C>T (p.Pro413Leu) single nucleotide variant Inborn genetic diseases [RCV004072064]|not provided [RCV002638464] Chr10:98425638 [GRCh38]
Chr10:100185395 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.970C>T (p.Pro324Ser) single nucleotide variant not provided [RCV002591219] Chr10:98427232 [GRCh38]
Chr10:100186989 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.298G>A (p.Glu100Lys) single nucleotide variant not provided [RCV002638557] Chr10:98435372 [GRCh38]
Chr10:100195129 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.878G>A (p.Ser293Asn) single nucleotide variant not provided [RCV002796449] Chr10:98429632 [GRCh38]
Chr10:100189389 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.159G>C (p.Pro53=) single nucleotide variant not provided [RCV002870935] Chr10:98435731 [GRCh38]
Chr10:100195488 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1101C>G (p.His367Gln) single nucleotide variant not provided [RCV002639986] Chr10:98425872 [GRCh38]
Chr10:100185629 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.310dup (p.Asp104fs) duplication not provided [RCV003039023] Chr10:98435359..98435360 [GRCh38]
Chr10:100195116..100195117 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.144C>T (p.Ser48=) single nucleotide variant not provided [RCV002912913] Chr10:98435746 [GRCh38]
Chr10:100195503 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1383C>G (p.Pro461=) single nucleotide variant not provided [RCV002706582] Chr10:98424327 [GRCh38]
Chr10:100184084 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.693G>A (p.Pro231=) single nucleotide variant not provided [RCV002592204] Chr10:98430646 [GRCh38]
Chr10:100190403 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.175_179dup (p.Thr60_Met61insTer) duplication not provided [RCV003035591] Chr10:98435710..98435711 [GRCh38]
Chr10:100195467..100195468 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1059G>A (p.Leu353=) single nucleotide variant not provided [RCV002824130] Chr10:98425914 [GRCh38]
Chr10:100185671 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1046G>A (p.Arg349Lys) single nucleotide variant not provided [RCV002622365] Chr10:98425927 [GRCh38]
Chr10:100185684 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1397+16C>T single nucleotide variant not provided [RCV002659665] Chr10:98424297 [GRCh38]
Chr10:100184054 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.484C>T (p.Gln162Ter) single nucleotide variant not provided [RCV002691111] Chr10:98434006 [GRCh38]
Chr10:100193763 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.221C>T (p.Thr74Met) single nucleotide variant not provided [RCV003077198] Chr10:98435669 [GRCh38]
Chr10:100195426 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.324G>C (p.Lys108Asn) single nucleotide variant not provided [RCV002948424] Chr10:98435346 [GRCh38]
Chr10:100195103 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.403C>T (p.Arg135Trp) single nucleotide variant Inborn genetic diseases [RCV003250586]|not provided [RCV002761579] Chr10:98434087 [GRCh38]
Chr10:100193844 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1941-18C>T single nucleotide variant not provided [RCV002745871] Chr10:98417744 [GRCh38]
Chr10:100177501 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1807_1808inv (p.Gln603Trp) inversion not provided [RCV003056571] Chr10:98420094..98420095 [GRCh38]
Chr10:100179851..100179852 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1479G>A (p.Arg493=) single nucleotide variant not provided [RCV003057545] Chr10:98423806 [GRCh38]
Chr10:100183563 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.867+16T>C single nucleotide variant not provided [RCV002852848] Chr10:98429775 [GRCh38]
Chr10:100189532 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1399C>T (p.Leu467=) single nucleotide variant not provided [RCV002667605] Chr10:98423886 [GRCh38]
Chr10:100183643 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.871del (p.Thr291fs) deletion not provided [RCV002876346] Chr10:98429639 [GRCh38]
Chr10:100189396 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1833C>T (p.Tyr611=) single nucleotide variant not provided [RCV002876842] Chr10:98420069 [GRCh38]
Chr10:100179826 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.938-5T>C single nucleotide variant not provided [RCV002645740] Chr10:98427269 [GRCh38]
Chr10:100187026 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.697G>A (p.Asp233Asn) single nucleotide variant Inborn genetic diseases [RCV002875009] Chr10:98430642 [GRCh38]
Chr10:100190399 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.837G>A (p.Thr279=) single nucleotide variant not provided [RCV002596385] Chr10:98429821 [GRCh38]
Chr10:100189578 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1533-17C>A single nucleotide variant not provided [RCV003056817] Chr10:98423685 [GRCh38]
Chr10:100183442 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.720G>T (p.Leu240=) single nucleotide variant not provided [RCV002829761] Chr10:98430619 [GRCh38]
Chr10:100190376 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1714G>T (p.Gly572Trp) single nucleotide variant not provided [RCV002933334] Chr10:98422398 [GRCh38]
Chr10:100182155 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1842G>A (p.Trp614Ter) single nucleotide variant not provided [RCV003025898] Chr10:98420060 [GRCh38]
Chr10:100179817 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1456T>G (p.Phe486Val) single nucleotide variant not provided [RCV003082666] Chr10:98423829 [GRCh38]
Chr10:100183586 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1170C>T (p.Pro390=) single nucleotide variant not provided [RCV002625952] Chr10:98425706 [GRCh38]
Chr10:100185463 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1952G>A (p.Arg651His) single nucleotide variant not provided [RCV003058402] Chr10:98417715 [GRCh38]
Chr10:100177472 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1980G>A (p.Glu660=) single nucleotide variant not provided [RCV002852010] Chr10:98417687 [GRCh38]
Chr10:100177444 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.980C>A (p.Ala327Asp) single nucleotide variant not provided [RCV003024670] Chr10:98427222 [GRCh38]
Chr10:100186979 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1140G>A (p.Leu380=) single nucleotide variant not provided [RCV003006072] Chr10:98425833 [GRCh38]
Chr10:100185590 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.462G>A (p.Trp154Ter) single nucleotide variant not provided [RCV002917854] Chr10:98434028 [GRCh38]
Chr10:100193785 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1970G>A (p.Arg657His) single nucleotide variant not provided [RCV002957322] Chr10:98417697 [GRCh38]
Chr10:100177454 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.392G>A (p.Arg131Gln) single nucleotide variant not provided [RCV003083695] Chr10:98435278 [GRCh38]
Chr10:100195035 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.898_925del (p.Tyr300fs) deletion not provided [RCV002625699] Chr10:98429585..98429612 [GRCh38]
Chr10:100189342..100189369 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1777del (p.Leu593fs) deletion Hermansky-Pudlak syndrome 1 [RCV003465950]|Hermansky-Pudlak syndrome [RCV003230766]|not provided [RCV003081872] Chr10:98420125 [GRCh38]
Chr10:100179882 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.83T>C (p.Leu28Pro) single nucleotide variant not provided [RCV003056641] Chr10:98443158 [GRCh38]
Chr10:100202915 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.801C>T (p.Asn267=) single nucleotide variant not provided [RCV003023195] Chr10:98429857 [GRCh38]
Chr10:100189614 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.810G>A (p.Val270=) single nucleotide variant not provided [RCV003007710] Chr10:98429848 [GRCh38]
Chr10:100189605 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1987A>G (p.Arg663Gly) single nucleotide variant not provided [RCV003056191] Chr10:98417680 [GRCh38]
Chr10:100177437 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2028C>A (p.Pro676=) single nucleotide variant not provided [RCV003040084] Chr10:98417639 [GRCh38]
Chr10:100177396 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1273G>A (p.Val425Met) single nucleotide variant not provided [RCV003082528] Chr10:98425603 [GRCh38]
Chr10:100185360 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1940+14G>C single nucleotide variant not provided [RCV003085709] Chr10:98418161 [GRCh38]
Chr10:100177918 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.197C>T (p.Ser66Leu) single nucleotide variant not provided [RCV002701191] Chr10:98435693 [GRCh38]
Chr10:100195450 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.623A>G (p.His208Arg) single nucleotide variant not provided [RCV003056823] Chr10:98431176 [GRCh38]
Chr10:100190933 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1014G>T (p.Leu338=) single nucleotide variant not provided [RCV002801827] Chr10:98425959 [GRCh38]
Chr10:100185716 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.424C>T (p.Arg142Cys) single nucleotide variant not provided [RCV002666592] Chr10:98434066 [GRCh38]
Chr10:100193823 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.852G>T (p.Gly284=) single nucleotide variant not provided [RCV002642358] Chr10:98429806 [GRCh38]
Chr10:100189563 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1277dup (p.Asp427fs) duplication not provided [RCV002957295] Chr10:98425598..98425599 [GRCh38]
Chr10:100185355..100185356 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1344G>C (p.Trp448Cys) single nucleotide variant not provided [RCV002663930] Chr10:98424366 [GRCh38]
Chr10:100184123 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.802A>G (p.Ile268Val) single nucleotide variant Inborn genetic diseases [RCV004065214]|not provided [RCV002982713] Chr10:98429856 [GRCh38]
Chr10:100189613 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.795C>T (p.Ser265=) single nucleotide variant not provided [RCV003040907] Chr10:98429863 [GRCh38]
Chr10:100189620 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1771A>C (p.Arg591=) single nucleotide variant not provided [RCV002958243] Chr10:98420131 [GRCh38]
Chr10:100179888 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1224G>T (p.Lys408Asn) single nucleotide variant not provided [RCV003024015] Chr10:98425652 [GRCh38]
Chr10:100185409 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1781A>T (p.Gln594Leu) single nucleotide variant not provided [RCV002575954] Chr10:98420121 [GRCh38]
Chr10:100179878 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.508-9C>G single nucleotide variant not provided [RCV002791154] Chr10:98431300 [GRCh38]
Chr10:100191057 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.154G>A (p.Ala52Thr) single nucleotide variant not provided [RCV003048181] Chr10:98435736 [GRCh38]
Chr10:100195493 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1531C>T (p.Arg511Trp) single nucleotide variant not provided [RCV003090960] Chr10:98423754 [GRCh38]
Chr10:100183511 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.937_937+15del deletion not provided [RCV002877222] Chr10:98429558..98429573 [GRCh38]
Chr10:100189315..100189330 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1226T>C (p.Leu409Pro) single nucleotide variant not provided [RCV002720435] Chr10:98425650 [GRCh38]
Chr10:100185407 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.688C>T (p.Arg230Cys) single nucleotide variant not provided [RCV003061472] Chr10:98430651 [GRCh38]
Chr10:100190408 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1603C>T (p.Leu535=) single nucleotide variant not provided [RCV002671465] Chr10:98422509 [GRCh38]
Chr10:100182266 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.794G>A (p.Ser265Asn) single nucleotide variant not provided [RCV003089265] Chr10:98429864 [GRCh38]
Chr10:100189621 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.867+11dup duplication not provided [RCV003064994] Chr10:98429779..98429780 [GRCh38]
Chr10:100189536..100189537 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1090C>T (p.Leu364=) single nucleotide variant not provided [RCV002720771] Chr10:98425883 [GRCh38]
Chr10:100185640 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.398+18G>T single nucleotide variant not provided [RCV003091767] Chr10:98435254 [GRCh38]
Chr10:100195011 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-6G>C single nucleotide variant not provided [RCV002649866] Chr10:98429895 [GRCh38]
Chr10:100189652 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1155+10C>T single nucleotide variant not provided [RCV002628340] Chr10:98425808 [GRCh38]
Chr10:100185565 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2083_2091del (p.Ser695_Ile697del) deletion not provided [RCV002597484] Chr10:98417576..98417584 [GRCh38]
Chr10:100177333..100177341 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.769-7T>C single nucleotide variant not provided [RCV002832769] Chr10:98429896 [GRCh38]
Chr10:100189653 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.379G>C (p.Gly127Arg) single nucleotide variant not provided [RCV002599055] Chr10:98435291 [GRCh38]
Chr10:100195048 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2069G>A (p.Arg690His) single nucleotide variant Inborn genetic diseases [RCV002629643]|not provided [RCV002629642] Chr10:98417598 [GRCh38]
Chr10:100177355 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1619G>C (p.Gly540Ala) single nucleotide variant not provided [RCV003063446] Chr10:98422493 [GRCh38]
Chr10:100182250 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1716G>A (p.Gly572=) single nucleotide variant not provided [RCV003026957] Chr10:98422396 [GRCh38]
Chr10:100182153 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.507+7A>G single nucleotide variant not provided [RCV002921992] Chr10:98433976 [GRCh38]
Chr10:100193733 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1704G>A (p.Glu568=) single nucleotide variant not provided [RCV003028798] Chr10:98422408 [GRCh38]
Chr10:100182165 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1714G>A (p.Gly572Arg) single nucleotide variant not provided [RCV003060768] Chr10:98422398 [GRCh38]
Chr10:100182155 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.987+18C>T single nucleotide variant not provided [RCV002933669] Chr10:98427197 [GRCh38]
Chr10:100186954 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.689G>C (p.Arg230Pro) single nucleotide variant not provided [RCV002646948] Chr10:98430650 [GRCh38]
Chr10:100190407 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.566G>A (p.Arg189Gln) single nucleotide variant not provided [RCV003063466] Chr10:98431233 [GRCh38]
Chr10:100190990 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1772G>A (p.Arg591Lys) single nucleotide variant not provided [RCV002715867] Chr10:98420130 [GRCh38]
Chr10:100179887 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1236G>T (p.Gly412=) single nucleotide variant not provided [RCV003009608] Chr10:98425640 [GRCh38]
Chr10:100185397 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.161T>C (p.Val54Ala) single nucleotide variant not provided [RCV003044240] Chr10:98435729 [GRCh38]
Chr10:100195486 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1443C>T (p.Ile481=) single nucleotide variant not provided [RCV002857743] Chr10:98423842 [GRCh38]
Chr10:100183599 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1159C>T (p.Pro387Ser) single nucleotide variant not provided [RCV003087083] Chr10:98425717 [GRCh38]
Chr10:100185474 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1472C>A (p.Pro491His) single nucleotide variant not provided [RCV003087366] Chr10:98423813 [GRCh38]
Chr10:100183570 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.828_829insGGGAGGCAGAAGGGGTGGAGGGAGCCAGGTCAGATAGGAGCTAACCAGC (p.His277fs) insertion not provided [RCV003048393] Chr10:98429829..98429830 [GRCh38]
Chr10:100189586..100189587 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.867+10G>A single nucleotide variant not provided [RCV003026837] Chr10:98429781 [GRCh38]
Chr10:100189538 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1919T>C (p.Met640Thr) single nucleotide variant not provided [RCV003027974] Chr10:98418196 [GRCh38]
Chr10:100177953 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.941G>A (p.Ser314Asn) single nucleotide variant Inborn genetic diseases [RCV002835440] Chr10:98427261 [GRCh38]
Chr10:100187018 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.63G>A (p.Glu21=) single nucleotide variant not provided [RCV003030421] Chr10:98443178 [GRCh38]
Chr10:100202935 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.270G>C (p.Leu90=) single nucleotide variant not provided [RCV002806620] Chr10:98435400 [GRCh38]
Chr10:100195157 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1384G>A (p.Gly462Arg) single nucleotide variant Inborn genetic diseases [RCV004070817]|not provided [RCV002629209] Chr10:98424326 [GRCh38]
Chr10:100184083 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.697G>C (p.Asp233His) single nucleotide variant not provided [RCV002599136] Chr10:98430642 [GRCh38]
Chr10:100190399 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.79C>T (p.Arg27Trp) single nucleotide variant not provided [RCV002599931] Chr10:98443162 [GRCh38]
Chr10:100202919 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1388C>A (p.Ser463Tyr) single nucleotide variant not provided [RCV002577650] Chr10:98424322 [GRCh38]
Chr10:100184079 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.411A>G (p.Pro137=) single nucleotide variant not provided [RCV003027026] Chr10:98434079 [GRCh38]
Chr10:100193836 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.304G>A (p.Glu102Lys) single nucleotide variant not provided [RCV003060234] Chr10:98435366 [GRCh38]
Chr10:100195123 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1336-16C>A single nucleotide variant not provided [RCV002629682] Chr10:98424390 [GRCh38]
Chr10:100184147 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1927G>A (p.Gly643Arg) single nucleotide variant not provided [RCV002627624] Chr10:98418188 [GRCh38]
Chr10:100177945 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1227G>A (p.Leu409=) single nucleotide variant not provided [RCV003045058] Chr10:98425649 [GRCh38]
Chr10:100185406 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1156-1G>A single nucleotide variant not provided [RCV002832870] Chr10:98425721 [GRCh38]
Chr10:100185478 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.987+1G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003465957]|not provided [RCV003088228] Chr10:98427214 [GRCh38]
Chr10:100186971 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1969C>T (p.Arg657Cys) single nucleotide variant Inborn genetic diseases [RCV004069065]|not provided [RCV002632503] Chr10:98417698 [GRCh38]
Chr10:100177455 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.759C>G (p.Asp253Glu) single nucleotide variant not provided [RCV002632536] Chr10:98430580 [GRCh38]
Chr10:100190337 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.314T>G (p.Leu105Arg) single nucleotide variant not provided [RCV003065588] Chr10:98435356 [GRCh38]
Chr10:100195113 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.50G>A (p.Trp17Ter) single nucleotide variant not provided [RCV003029379] Chr10:98443191 [GRCh38]
Chr10:100202948 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1335+10A>G single nucleotide variant not provided [RCV003068377] Chr10:98425531 [GRCh38]
Chr10:100185288 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1533-4G>A single nucleotide variant not provided [RCV002725988] Chr10:98423672 [GRCh38]
Chr10:100183429 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.697G>T (p.Asp233Tyr) single nucleotide variant not provided [RCV002603319] Chr10:98430642 [GRCh38]
Chr10:100190399 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1544C>T (p.Thr515Met) single nucleotide variant Inborn genetic diseases [RCV003066575]|not provided [RCV003066574] Chr10:98423657 [GRCh38]
Chr10:100183414 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.1532G>A (p.Arg511Gln) single nucleotide variant not provided [RCV002943051] Chr10:98423753 [GRCh38]
Chr10:100183510 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.379G>A (p.Gly127Ser) single nucleotide variant not provided [RCV003067847] Chr10:98435291 [GRCh38]
Chr10:100195048 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.624T>G (p.His208Gln) single nucleotide variant not provided [RCV003052743] Chr10:98431175 [GRCh38]
Chr10:100190932 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.672C>G (p.His224Gln) single nucleotide variant not provided [RCV003093391] Chr10:98430667 [GRCh38]
Chr10:100190424 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.915T>C (p.Pro305=) single nucleotide variant not provided [RCV002814639] Chr10:98429595 [GRCh38]
Chr10:100189352 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.321G>A (p.Arg107=) single nucleotide variant not provided [RCV003050784] Chr10:98435349 [GRCh38]
Chr10:100195106 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1858-11T>C single nucleotide variant not provided [RCV002680880] Chr10:98418268 [GRCh38]
Chr10:100178025 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.882C>G (p.Phe294Leu) single nucleotide variant not provided [RCV003072559] Chr10:98429628 [GRCh38]
Chr10:100189385 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.845C>A (p.Thr282Asn) single nucleotide variant not provided [RCV002603948] Chr10:98429813 [GRCh38]
Chr10:100189570 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.868-12T>C single nucleotide variant not provided [RCV003068572] Chr10:98429654 [GRCh38]
Chr10:100189411 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-10C>G single nucleotide variant not provided [RCV002605322] Chr10:98429899 [GRCh38]
Chr10:100189656 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1532+17C>G single nucleotide variant not provided [RCV003069548] Chr10:98423736 [GRCh38]
Chr10:100183493 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.867+2T>G single nucleotide variant not provided [RCV003052062] Chr10:98429789 [GRCh38]
Chr10:100189546 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.609C>T (p.Gly203=) single nucleotide variant not provided [RCV002606990] Chr10:98431190 [GRCh38]
Chr10:100190947 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.868-6T>C single nucleotide variant not provided [RCV002590020] Chr10:98429648 [GRCh38]
Chr10:100189405 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-16C>A single nucleotide variant not provided [RCV002585500] Chr10:98429905 [GRCh38]
Chr10:100189662 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1912A>G (p.Ile638Val) single nucleotide variant Inborn genetic diseases [RCV004071791]|not provided [RCV003072349] Chr10:98418203 [GRCh38]
Chr10:100177960 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000195.5(HPS1):c.222G>A (p.Thr74=) single nucleotide variant not provided [RCV003050958] Chr10:98435668 [GRCh38]
Chr10:100195425 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1258C>T (p.Arg420Cys) single nucleotide variant not provided [RCV002610927] Chr10:98425618 [GRCh38]
Chr10:100185375 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.641A>G (p.His214Arg) single nucleotide variant not provided [RCV003066450] Chr10:98431158 [GRCh38]
Chr10:100190915 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1003C>G (p.Leu335Val) single nucleotide variant not provided [RCV002589108] Chr10:98425970 [GRCh38]
Chr10:100185727 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1769G>A (p.Arg590His) single nucleotide variant not provided [RCV002602972] Chr10:98420133 [GRCh38]
Chr10:100179890 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1743+11G>A single nucleotide variant not provided [RCV003070533] Chr10:98422358 [GRCh38]
Chr10:100182115 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.507+16G>A single nucleotide variant not provided [RCV002610700] Chr10:98433967 [GRCh38]
Chr10:100193724 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.4(HPS1):c.1602_1605delCCTA microsatellite Hermansky-Pudlak syndrome [RCV003226649] Chr10:98422507..98422510 [GRCh38]
Chr10:100182264..100182267 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_032709.3(PYROXD2):c.112G>A (p.Val38Met) single nucleotide variant not specified [RCV004262341] Chr10:98415024 [GRCh38]
Chr10:100174781 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1151C>T (p.Thr384Ile) single nucleotide variant Inborn genetic diseases [RCV003205177] Chr10:98425822 [GRCh38]
Chr10:100185579 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003135620] Chr10:98425900 [GRCh38]
Chr10:100185657 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003146048] Chr10:98434053 [GRCh38]
Chr10:100193810 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_032709.3(PYROXD2):c.14G>C (p.Gly5Ala) single nucleotide variant not specified [RCV004248617] Chr10:98415122 [GRCh38]
Chr10:100174879 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.118-118C>A single nucleotide variant not provided [RCV003227354] Chr10:98435890 [GRCh38]
Chr10:100195647 [GRCh37]
Chr10:10q24.2		 likely benign
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_000195.5(HPS1):c.1166C>T (p.Ala389Val) single nucleotide variant Inborn genetic diseases [RCV003343567] Chr10:98425710 [GRCh38]
Chr10:100185467 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1062T>A (p.Asp354Glu) single nucleotide variant Inborn genetic diseases [RCV003349125] Chr10:98425911 [GRCh38]
Chr10:100185668 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2095dup (p.Leu699fs) duplication Hermansky-Pudlak syndrome 1 [RCV003468357] Chr10:98417571..98417572 [GRCh38]
Chr10:100177328..100177329 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.322A>T (p.Lys108Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003468359] Chr10:98435348 [GRCh38]
Chr10:100195105 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003468363] Chr10:98430573 [GRCh38]
Chr10:100190330 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003468364] Chr10:98423880 [GRCh38]
Chr10:100183637 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1471C>T (p.Pro491Ser) single nucleotide variant Inborn genetic diseases [RCV003386320] Chr10:98423814 [GRCh38]
Chr10:100183571 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.392G>T (p.Arg131Leu) single nucleotide variant Inborn genetic diseases [RCV003374996] Chr10:98435278 [GRCh38]
Chr10:100195035 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1335+1G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003476444] Chr10:98425540 [GRCh38]
Chr10:100185297 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1527C>T (p.Leu509=) single nucleotide variant not provided [RCV003873527] Chr10:98423758 [GRCh38]
Chr10:100183515 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.807del (p.Val270fs) deletion Hermansky-Pudlak syndrome 1 [RCV003476445] Chr10:98429851 [GRCh38]
Chr10:100189608 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs) indel Hermansky-Pudlak syndrome 1 [RCV003476446] Chr10:98420119..98420129 [GRCh38]
Chr10:100179876..100179886 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.118-4G>T single nucleotide variant not provided [RCV003570065] Chr10:98435776 [GRCh38]
Chr10:100195533 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1065del (p.Asn356fs) deletion Hermansky-Pudlak syndrome 1 [RCV003468362] Chr10:98425908 [GRCh38]
Chr10:100185665 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.822G>A (p.Trp274Ter) single nucleotide variant not provided [RCV003543495] Chr10:98429836 [GRCh38]
Chr10:100189593 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.721del (p.Val241fs) deletion Hermansky-Pudlak syndrome 1 [RCV003469786] Chr10:98430618 [GRCh38]
Chr10:100190375 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.669-1G>C single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003469788] Chr10:98430671 [GRCh38]
Chr10:100190428 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.987+12C>G single nucleotide variant not provided [RCV003543278] Chr10:98427203 [GRCh38]
Chr10:100186960 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2010G>T (p.Leu670=) single nucleotide variant not provided [RCV003872712] Chr10:98417657 [GRCh38]
Chr10:100177414 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.516G>A (p.Glu172=) single nucleotide variant not provided [RCV003872658] Chr10:98431283 [GRCh38]
Chr10:100191040 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.510C>T (p.Ala170=) single nucleotide variant not provided [RCV003684584] Chr10:98431289 [GRCh38]
Chr10:100191046 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.118-2_139del deletion not provided [RCV003570765] Chr10:98435751..98435774 [GRCh38]
Chr10:100195508..100195531 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1809G>A (p.Gln603=) single nucleotide variant not provided [RCV003712578] Chr10:98420093 [GRCh38]
Chr10:100179850 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs) deletion Hermansky-Pudlak syndrome 1 [RCV003476441] Chr10:98422488..98422492 [GRCh38]
Chr10:100182245..100182249 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003476449] Chr10:98420122 [GRCh38]
Chr10:100179879 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs) indel Hermansky-Pudlak syndrome 1 [RCV003476442] Chr10:98429810..98429813 [GRCh38]
Chr10:100189567..100189570 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1198del (p.Asp400fs) deletion Hermansky-Pudlak syndrome 1 [RCV003468358]|not provided [RCV003779042] Chr10:98425678 [GRCh38]
Chr10:100185435 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.141dup (p.Ser48fs) duplication Hermansky-Pudlak syndrome 1 [RCV003469790] Chr10:98435748..98435749 [GRCh38]
Chr10:100195505..100195506 [GRCh37]
Chr10:10q24.2		 likely pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs) duplication Hermansky-Pudlak syndrome 1 [RCV003476436] Chr10:98425833..98425834 [GRCh38]
Chr10:100185590..100185591 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.595_601del (p.Pro199fs) deletion Hermansky-Pudlak syndrome 1 [RCV003476439] Chr10:98431198..98431204 [GRCh38]
Chr10:100190955..100190961 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs) indel Hermansky-Pudlak syndrome 1 [RCV003476440] Chr10:98425579..98425583 [GRCh38]
Chr10:100185336..100185340 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003476443] Chr10:98435372 [GRCh38]
Chr10:100195129 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.533del (p.Gln178fs) deletion Hermansky-Pudlak syndrome 1 [RCV003476438] Chr10:98431266 [GRCh38]
Chr10:100191023 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1084del (p.Cys362fs) deletion Hermansky-Pudlak syndrome 1 [RCV003476447] Chr10:98425889 [GRCh38]
Chr10:100185646 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs) insertion Hermansky-Pudlak syndrome 1 [RCV003476448] Chr10:98418176..98418177 [GRCh38]
Chr10:100177933..100177934 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer) microsatellite Hermansky-Pudlak syndrome 1 [RCV003468361] Chr10:98431133..98431134 [GRCh38]
Chr10:100190890..100190891 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.908C>A (p.Pro303Gln) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003388290] Chr10:98429602 [GRCh38]
Chr10:100189359 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs) deletion Hermansky-Pudlak syndrome 1 [RCV003469784] Chr10:98417610..98417638 [GRCh38]
Chr10:100177367..100177395 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.668+1G>A single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003469785] Chr10:98431130 [GRCh38]
Chr10:100190887 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003469787]|not provided [RCV003549100] Chr10:98420131 [GRCh38]
Chr10:100179888 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000195.5(HPS1):c.1519dup (p.Gln507fs) duplication Hermansky-Pudlak syndrome 1 [RCV003469789] Chr10:98423765..98423766 [GRCh38]
Chr10:100183522..100183523 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV003469791] Chr10:98425657 [GRCh38]
Chr10:100185414 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.988-20C>A single nucleotide variant not provided [RCV003694210] Chr10:98426005 [GRCh38]
Chr10:100185762 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.118-11C>G single nucleotide variant not provided [RCV003575273] Chr10:98435783 [GRCh38]
Chr10:100195540 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1768C>G (p.Arg590Gly) single nucleotide variant not provided [RCV003578940] Chr10:98420134 [GRCh38]
Chr10:100179891 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.954G>T (p.Leu318=) single nucleotide variant not provided [RCV003694547] Chr10:98427248 [GRCh38]
Chr10:100187005 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1336-17C>A single nucleotide variant not provided [RCV003830870] Chr10:98424391 [GRCh38]
Chr10:100184148 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1940+19C>T single nucleotide variant not provided [RCV003694609] Chr10:98418156 [GRCh38]
Chr10:100177913 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1335+14T>C single nucleotide variant not provided [RCV003694895] Chr10:98425527 [GRCh38]
Chr10:100185284 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.79del (p.Arg27fs) deletion not provided [RCV003579103] Chr10:98443162 [GRCh38]
Chr10:100202919 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.669-12C>A single nucleotide variant not provided [RCV003661264] Chr10:98430682 [GRCh38]
Chr10:100190439 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.375G>A (p.Val125=) single nucleotide variant not provided [RCV003544151] Chr10:98435295 [GRCh38]
Chr10:100195052 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.668+13del deletion not provided [RCV003577644] Chr10:98431118 [GRCh38]
Chr10:100190875 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1336-15C>G single nucleotide variant not provided [RCV003577057] Chr10:98424389 [GRCh38]
Chr10:100184146 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1430A>G (p.Gln477Arg) single nucleotide variant not provided [RCV003659857] Chr10:98423855 [GRCh38]
Chr10:100183612 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.195C>A (p.Leu65=) single nucleotide variant not provided [RCV003687404] Chr10:98435695 [GRCh38]
Chr10:100195452 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.840C>T (p.Gly280=) single nucleotide variant not provided [RCV003716360] Chr10:98429818 [GRCh38]
Chr10:100189575 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1041C>G (p.Gly347=) single nucleotide variant not provided [RCV003547228] Chr10:98425932 [GRCh38]
Chr10:100185689 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1398-15C>T single nucleotide variant not provided [RCV003660214] Chr10:98423902 [GRCh38]
Chr10:100183659 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.454C>T (p.Leu152=) single nucleotide variant not provided [RCV003695156] Chr10:98434036 [GRCh38]
Chr10:100193793 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1365T>G (p.Ala455=) single nucleotide variant not provided [RCV003687341] Chr10:98424345 [GRCh38]
Chr10:100184102 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1397+7G>T single nucleotide variant not provided [RCV003544249] Chr10:98424306 [GRCh38]
Chr10:100184063 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.668+9A>G single nucleotide variant not provided [RCV003830824] Chr10:98431122 [GRCh38]
Chr10:100190879 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.735C>A (p.Tyr245Ter) single nucleotide variant not provided [RCV003715502] Chr10:98430604 [GRCh38]
Chr10:100190361 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1336-19C>A single nucleotide variant not provided [RCV003827302] Chr10:98424393 [GRCh38]
Chr10:100184150 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.660C>T (p.Phe220=) single nucleotide variant not provided [RCV003879408] Chr10:98431139 [GRCh38]
Chr10:100190896 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.792C>T (p.Ser264=) single nucleotide variant not provided [RCV003576721] Chr10:98429866 [GRCh38]
Chr10:100189623 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.696C>A (p.Ala232=) single nucleotide variant not provided [RCV003573379] Chr10:98430643 [GRCh38]
Chr10:100190400 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1138C>T (p.Leu380=) single nucleotide variant not provided [RCV003572231] Chr10:98425835 [GRCh38]
Chr10:100185592 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1940+15G>T single nucleotide variant not provided [RCV003572748] Chr10:98418160 [GRCh38]
Chr10:100177917 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1155+19del deletion not provided [RCV003661191] Chr10:98425799 [GRCh38]
Chr10:100185556 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.256-16C>T single nucleotide variant not provided [RCV003575717] Chr10:98435430 [GRCh38]
Chr10:100195187 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.959_962dup (p.Thr322fs) duplication not provided [RCV003694546] Chr10:98427239..98427240 [GRCh38]
Chr10:100186996..100186997 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1481dup (p.Gly495fs) duplication not provided [RCV003578985] Chr10:98423803..98423804 [GRCh38]
Chr10:100183560..100183561 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1940+1G>A single nucleotide variant not provided [RCV003715347] Chr10:98418174 [GRCh38]
Chr10:100177931 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.126C>G (p.Ala42=) single nucleotide variant not provided [RCV003878317] Chr10:98435764 [GRCh38]
Chr10:100195521 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.510C>G (p.Ala170=) single nucleotide variant not provided [RCV003577432] Chr10:98431289 [GRCh38]
Chr10:100191046 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-14C>T single nucleotide variant not provided [RCV003575912] Chr10:98429903 [GRCh38]
Chr10:100189660 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1410A>G (p.Ala470=) single nucleotide variant not provided [RCV003573004] Chr10:98423875 [GRCh38]
Chr10:100183632 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2031T>G (p.Thr677=) single nucleotide variant not provided [RCV003544809] Chr10:98417636 [GRCh38]
Chr10:100177393 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.567G>T (p.Arg189=) single nucleotide variant not provided [RCV003661868] Chr10:98431232 [GRCh38]
Chr10:100190989 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.711C>T (p.Leu237=) single nucleotide variant not provided [RCV003575590] Chr10:98430628 [GRCh38]
Chr10:100190385 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.668+19A>T single nucleotide variant not provided [RCV003828065] Chr10:98431112 [GRCh38]
Chr10:100190869 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.615G>A (p.Glu205=) single nucleotide variant not provided [RCV003691255] Chr10:98431184 [GRCh38]
Chr10:100190941 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.988-11T>C single nucleotide variant not provided [RCV003687792] Chr10:98425996 [GRCh38]
Chr10:100185753 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.904_917dup (p.Pro307fs) duplication not provided [RCV003876080] Chr10:98429592..98429593 [GRCh38]
Chr10:100189349..100189350 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.513G>A (p.Leu171=) single nucleotide variant not provided [RCV003566473] Chr10:98431286 [GRCh38]
Chr10:100191043 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.561G>A (p.Leu187=) single nucleotide variant not provided [RCV003548052] Chr10:98431238 [GRCh38]
Chr10:100190995 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.507+12del deletion not provided [RCV003880880] Chr10:98433971 [GRCh38]
Chr10:100193728 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.93G>T (p.Gly31=) single nucleotide variant not provided [RCV003575255] Chr10:98443148 [GRCh38]
Chr10:100202905 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.118-15C>T single nucleotide variant not provided [RCV003850305] Chr10:98435787 [GRCh38]
Chr10:100195544 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1950G>C (p.Leu650=) single nucleotide variant not provided [RCV003659035] Chr10:98417717 [GRCh38]
Chr10:100177474 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.649C>T (p.Leu217=) single nucleotide variant not provided [RCV003659175] Chr10:98431150 [GRCh38]
Chr10:100190907 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1336-15_1336-14del deletion not provided [RCV003579907] Chr10:98424388..98424389 [GRCh38]
Chr10:100184145..100184146 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1532+11T>C single nucleotide variant not provided [RCV003812034] Chr10:98423742 [GRCh38]
Chr10:100183499 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1071G>A (p.Val357=) single nucleotide variant not provided [RCV003580192] Chr10:98425902 [GRCh38]
Chr10:100185659 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.256-6C>T single nucleotide variant not provided [RCV003549663] Chr10:98435420 [GRCh38]
Chr10:100195177 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.895G>T (p.Glu299Ter) single nucleotide variant not provided [RCV003702388] Chr10:98429615 [GRCh38]
Chr10:100189372 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1533-20G>T single nucleotide variant not provided [RCV003699296] Chr10:98423688 [GRCh38]
Chr10:100183445 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.966C>A (p.Thr322=) single nucleotide variant not provided [RCV003699304] Chr10:98427236 [GRCh38]
Chr10:100186993 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.351A>G (p.Glu117=) single nucleotide variant not provided [RCV003724593] Chr10:98435319 [GRCh38]
Chr10:100195076 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.867+19G>A single nucleotide variant not provided [RCV003740424] Chr10:98429772 [GRCh38]
Chr10:100189529 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.398+17G>A single nucleotide variant not provided [RCV003702981] Chr10:98435255 [GRCh38]
Chr10:100195012 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.398+13A>G single nucleotide variant not provided [RCV003726928] Chr10:98435259 [GRCh38]
Chr10:100195016 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.141C>A (p.Leu47=) single nucleotide variant not provided [RCV003855945] Chr10:98435749 [GRCh38]
Chr10:100195506 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1788C>T (p.Gly596=) single nucleotide variant not provided [RCV003562116] Chr10:98420114 [GRCh38]
Chr10:100179871 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1335+2T>C single nucleotide variant not provided [RCV003672460] Chr10:98425539 [GRCh38]
Chr10:100185296 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.255+13C>T single nucleotide variant not provided [RCV003669755] Chr10:98435622 [GRCh38]
Chr10:100195379 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.33A>C (p.Ala11=) single nucleotide variant not provided [RCV003672469] Chr10:98443208 [GRCh38]
Chr10:100202965 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1389C>T (p.Ser463=) single nucleotide variant not provided [RCV003668332] Chr10:98424321 [GRCh38]
Chr10:100184078 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.669-15C>T single nucleotide variant not provided [RCV003664115] Chr10:98430685 [GRCh38]
Chr10:100190442 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.747C>T (p.Ser249=) single nucleotide variant not provided [RCV003561959] Chr10:98430592 [GRCh38]
Chr10:100190349 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1599-19C>T single nucleotide variant not provided [RCV003856657] Chr10:98422532 [GRCh38]
Chr10:100182289 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.937+17A>G single nucleotide variant not provided [RCV003665884] Chr10:98429556 [GRCh38]
Chr10:100189313 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.988-18G>C single nucleotide variant not provided [RCV003703601] Chr10:98426003 [GRCh38]
Chr10:100185760 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.867+18C>T single nucleotide variant not provided [RCV003557954] Chr10:98429773 [GRCh38]
Chr10:100189530 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.668+18C>T single nucleotide variant not provided [RCV003700657] Chr10:98431113 [GRCh38]
Chr10:100190870 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1341del (p.Trp448fs) deletion not provided [RCV003702073] Chr10:98424369 [GRCh38]
Chr10:100184126 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1314T>C (p.Asn438=) single nucleotide variant not provided [RCV003698038] Chr10:98425562 [GRCh38]
Chr10:100185319 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1294_1298delinsT (p.Met432fs) indel not provided [RCV003837776] Chr10:98425578..98425582 [GRCh38]
Chr10:100185335..100185339 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.399-2A>G single nucleotide variant not provided [RCV003668875] Chr10:98434093 [GRCh38]
Chr10:100193850 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.398+14G>T single nucleotide variant not provided [RCV003559509] Chr10:98435258 [GRCh38]
Chr10:100195015 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1335+15C>T single nucleotide variant not provided [RCV003663835] Chr10:98425526 [GRCh38]
Chr10:100185283 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.966C>G (p.Thr322=) single nucleotide variant not provided [RCV003726220] Chr10:98427236 [GRCh38]
Chr10:100186993 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.171C>A (p.Ser57=) single nucleotide variant not provided [RCV003668535] Chr10:98435719 [GRCh38]
Chr10:100195476 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1743+13A>T single nucleotide variant not provided [RCV003672596] Chr10:98422356 [GRCh38]
Chr10:100182113 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1398-11C>T single nucleotide variant not provided [RCV003726229] Chr10:98423898 [GRCh38]
Chr10:100183655 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-12T>C single nucleotide variant not provided [RCV003665183] Chr10:98429901 [GRCh38]
Chr10:100189658 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1498C>T (p.Gln500Ter) single nucleotide variant not provided [RCV003723612] Chr10:98423787 [GRCh38]
Chr10:100183544 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.988-4G>T single nucleotide variant not provided [RCV003669746] Chr10:98425989 [GRCh38]
Chr10:100185746 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1533-12T>C single nucleotide variant not provided [RCV003856073] Chr10:98423680 [GRCh38]
Chr10:100183437 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.118-11del deletion not provided [RCV003667181] Chr10:98435783 [GRCh38]
Chr10:100195540 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1743+17A>T single nucleotide variant not provided [RCV003559744] Chr10:98422352 [GRCh38]
Chr10:100182109 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1336-19C>T single nucleotide variant not provided [RCV003832937] Chr10:98424393 [GRCh38]
Chr10:100184150 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.141C>T (p.Leu47=) single nucleotide variant not provided [RCV003856111] Chr10:98435749 [GRCh38]
Chr10:100195506 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.768+20G>T single nucleotide variant not provided [RCV003702261] Chr10:98430551 [GRCh38]
Chr10:100190308 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.256-12C>T single nucleotide variant not provided [RCV003723448] Chr10:98435426 [GRCh38]
Chr10:100195183 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.868-14C>T single nucleotide variant not provided [RCV003836830] Chr10:98429656 [GRCh38]
Chr10:100189413 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.693G>C (p.Pro231=) single nucleotide variant not provided [RCV003672587] Chr10:98430646 [GRCh38]
Chr10:100190403 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.963C>T (p.Gly321=) single nucleotide variant not provided [RCV003717899] Chr10:98427239 [GRCh38]
Chr10:100186996 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1335+20C>T single nucleotide variant not provided [RCV003837799] Chr10:98425521 [GRCh38]
Chr10:100185278 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.988-17C>A single nucleotide variant not provided [RCV003696912] Chr10:98426002 [GRCh38]
Chr10:100185759 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1940+11G>T single nucleotide variant not provided [RCV003716970] Chr10:98418164 [GRCh38]
Chr10:100177921 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1744-13G>A single nucleotide variant not provided [RCV003814537] Chr10:98420171 [GRCh38]
Chr10:100179928 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.255+11A>G single nucleotide variant not provided [RCV003724253] Chr10:98435624 [GRCh38]
Chr10:100195381 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1393T>C (p.Trp465Arg) single nucleotide variant not specified [RCV003994911] Chr10:98424317 [GRCh38]
Chr10:100184074 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1598+16G>A single nucleotide variant not provided [RCV003724697] Chr10:98423587 [GRCh38]
Chr10:100183344 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1398-12_1398-9del microsatellite not provided [RCV003580969] Chr10:98423896..98423899 [GRCh38]
Chr10:100183653..100183656 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.811C>T (p.Gln271Ter) single nucleotide variant not provided [RCV003816363] Chr10:98429847 [GRCh38]
Chr10:100189604 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1155+1del deletion not provided [RCV003672877] Chr10:98425817 [GRCh38]
Chr10:100185574 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.255+20G>T single nucleotide variant not provided [RCV003580726] Chr10:98435615 [GRCh38]
Chr10:100195372 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.669-18A>G single nucleotide variant not provided [RCV003811464] Chr10:98430688 [GRCh38]
Chr10:100190445 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.357C>T (p.His119=) single nucleotide variant not provided [RCV003559587] Chr10:98435313 [GRCh38]
Chr10:100195070 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.255+8T>C single nucleotide variant not provided [RCV003838472] Chr10:98435627 [GRCh38]
Chr10:100195384 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+10C>A single nucleotide variant not provided [RCV003549784] Chr10:98423593 [GRCh38]
Chr10:100183350 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.429C>T (p.Val143=) single nucleotide variant not provided [RCV003580944] Chr10:98434061 [GRCh38]
Chr10:100193818 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1863C>T (p.Tyr621=) single nucleotide variant not provided [RCV003563656] Chr10:98418252 [GRCh38]
Chr10:100178009 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.988-16T>A single nucleotide variant not provided [RCV003841905] Chr10:98426001 [GRCh38]
Chr10:100185758 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1744-12T>G single nucleotide variant not provided [RCV003709328] Chr10:98420170 [GRCh38]
Chr10:100179927 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1947C>T (p.Leu649=) single nucleotide variant not provided [RCV003859233] Chr10:98417720 [GRCh38]
Chr10:100177477 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.987+14G>T single nucleotide variant not provided [RCV003730766] Chr10:98427201 [GRCh38]
Chr10:100186958 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1398-19C>T single nucleotide variant not provided [RCV003564945] Chr10:98423906 [GRCh38]
Chr10:100183663 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+8G>A single nucleotide variant not provided [RCV003707402] Chr10:98423595 [GRCh38]
Chr10:100183352 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.868-15C>A single nucleotide variant not provided [RCV003567793] Chr10:98429657 [GRCh38]
Chr10:100189414 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.256-7C>A single nucleotide variant not provided [RCV003857169] Chr10:98435421 [GRCh38]
Chr10:100195178 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1858-20del deletion not provided [RCV003859999] Chr10:98418277 [GRCh38]
Chr10:100178034 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2034C>T (p.Asp678=) single nucleotide variant not provided [RCV003706910] Chr10:98417633 [GRCh38]
Chr10:100177390 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.73_74del (p.Leu26fs) microsatellite not provided [RCV003841787] Chr10:98443167..98443168 [GRCh38]
Chr10:100202924..100202925 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1125G>A (p.Trp375Ter) single nucleotide variant not provided [RCV003861117] Chr10:98425848 [GRCh38]
Chr10:100185605 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.937+18_937+28del deletion not provided [RCV003862696] Chr10:98429545..98429555 [GRCh38]
Chr10:100189302..100189312 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.972C>A (p.Pro324=) single nucleotide variant not provided [RCV003735801] Chr10:98427230 [GRCh38]
Chr10:100186987 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1941-8C>A single nucleotide variant not provided [RCV003552681] Chr10:98417734 [GRCh38]
Chr10:100177491 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1336-13G>A single nucleotide variant not provided [RCV003735918] Chr10:98424387 [GRCh38]
Chr10:100184144 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1598+20C>T single nucleotide variant not provided [RCV003736124] Chr10:98423583 [GRCh38]
Chr10:100183340 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1119C>T (p.Pro373=) single nucleotide variant not provided [RCV003568380] Chr10:98425854 [GRCh38]
Chr10:100185611 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.987+16G>T single nucleotide variant not provided [RCV003842876] Chr10:98427199 [GRCh38]
Chr10:100186956 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-14_834del deletion not provided [RCV003859221] Chr10:98429824..98429903 [GRCh38]
Chr10:100189581..100189660 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.845del (p.Thr282fs) deletion not provided [RCV003567103] Chr10:98429813 [GRCh38]
Chr10:100189570 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.831C>T (p.His277=) single nucleotide variant not provided [RCV003567104] Chr10:98429827 [GRCh38]
Chr10:100189584 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1569G>A (p.Val523=) single nucleotide variant not provided [RCV003568406] Chr10:98423632 [GRCh38]
Chr10:100183389 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.867+9T>A single nucleotide variant not provided [RCV003704401] Chr10:98429782 [GRCh38]
Chr10:100189539 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1155+17C>A single nucleotide variant not provided [RCV003564046] Chr10:98425801 [GRCh38]
Chr10:100185558 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.15G>A (p.Leu5=) single nucleotide variant not provided [RCV003567234] Chr10:98443226 [GRCh38]
Chr10:100202983 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1800G>A (p.Leu600=) single nucleotide variant not provided [RCV003704851] Chr10:98420102 [GRCh38]
Chr10:100179859 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1532+9A>C single nucleotide variant not provided [RCV003567837] Chr10:98423744 [GRCh38]
Chr10:100183501 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.624del (p.His208fs) deletion not provided [RCV003711332] Chr10:98431175 [GRCh38]
Chr10:100190932 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.657A>G (p.Ala219=) single nucleotide variant not provided [RCV003555419] Chr10:98431142 [GRCh38]
Chr10:100190899 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.937+8C>T single nucleotide variant not provided [RCV003852866] Chr10:98429565 [GRCh38]
Chr10:100189322 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1320G>C (p.Gly440=) single nucleotide variant not provided [RCV003731124] Chr10:98425556 [GRCh38]
Chr10:100185313 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1940+11G>A single nucleotide variant not provided [RCV003555607]|not specified [RCV003994570] Chr10:98418164 [GRCh38]
Chr10:100177921 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.151C>T (p.Leu51=) single nucleotide variant not provided [RCV003719341] Chr10:98435739 [GRCh38]
Chr10:100195496 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1941-14C>G single nucleotide variant not provided [RCV003684017] Chr10:98417740 [GRCh38]
Chr10:100177497 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.937+17dup duplication not provided [RCV003868883] Chr10:98429555..98429556 [GRCh38]
Chr10:100189312..100189313 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.884_915dup (p.Ser306fs) duplication not provided [RCV003564874] Chr10:98429594..98429595 [GRCh38]
Chr10:100189351..100189352 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1074G>A (p.Lys358=) single nucleotide variant not provided [RCV003710123] Chr10:98425899 [GRCh38]
Chr10:100185656 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.126C>T (p.Ala42=) single nucleotide variant not provided [RCV003871422] Chr10:98435764 [GRCh38]
Chr10:100195521 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.360T>C (p.Phe120=) single nucleotide variant not provided [RCV003860205] Chr10:98435310 [GRCh38]
Chr10:100195067 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.528C>T (p.His176=) single nucleotide variant not provided [RCV003723014] Chr10:98431271 [GRCh38]
Chr10:100191028 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.117+7G>A single nucleotide variant not provided [RCV003551061] Chr10:98443117 [GRCh38]
Chr10:100202874 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-13C>T single nucleotide variant not provided [RCV003683547] Chr10:98429902 [GRCh38]
Chr10:100189659 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1533-13C>T single nucleotide variant not provided [RCV003721722] Chr10:98423681 [GRCh38]
Chr10:100183438 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.508-19C>T single nucleotide variant not provided [RCV003718891] Chr10:98431310 [GRCh38]
Chr10:100191067 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.399-5C>A single nucleotide variant not provided [RCV003738006] Chr10:98434096 [GRCh38]
Chr10:100193853 [GRCh37]
Chr10:10q24.2		 likely benign
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1 copy number loss not specified [RCV003986912] Chr10:94283369..101820913 [GRCh37]
Chr10:10q23.33-24.2		 pathogenic
NM_000195.5(HPS1):c.1532+16C>T single nucleotide variant not provided [RCV003824097] Chr10:98423737 [GRCh38]
Chr10:100183494 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1336-16C>T single nucleotide variant not provided [RCV003686055] Chr10:98424390 [GRCh38]
Chr10:100184147 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.987+14G>A single nucleotide variant not provided [RCV003737256] Chr10:98427201 [GRCh38]
Chr10:100186958 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.988-17C>T single nucleotide variant not provided [RCV003719918] Chr10:98426002 [GRCh38]
Chr10:100185759 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-11G>A single nucleotide variant not provided [RCV003737526] Chr10:98429900 [GRCh38]
Chr10:100189657 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.153A>C (p.Leu51=) single nucleotide variant not provided [RCV003859944] Chr10:98435737 [GRCh38]
Chr10:100195494 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.296C>G (p.Thr99Ser) single nucleotide variant not provided [RCV003681010] Chr10:98435374 [GRCh38]
Chr10:100195131 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1398-8G>T single nucleotide variant not provided [RCV003720459] Chr10:98423895 [GRCh38]
Chr10:100183652 [GRCh37]
Chr10:10q24.2		 likely benign
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_000195.5(HPS1):c.1911T>C (p.Pro637=) single nucleotide variant not provided [RCV003684445] Chr10:98418204 [GRCh38]
Chr10:100177961 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1156-16C>T single nucleotide variant not provided [RCV003862158] Chr10:98425736 [GRCh38]
Chr10:100185493 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1368C>T (p.Phe456=) single nucleotide variant not provided [RCV003677768] Chr10:98424342 [GRCh38]
Chr10:100184099 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.937+10G>C single nucleotide variant not provided [RCV003552782] Chr10:98429563 [GRCh38]
Chr10:100189320 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.987+4A>G single nucleotide variant not provided [RCV003564499] Chr10:98427211 [GRCh38]
Chr10:100186968 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1599-1C>G single nucleotide variant not provided [RCV003708291] Chr10:98422514 [GRCh38]
Chr10:100182271 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1532+20C>T single nucleotide variant not provided [RCV003680979] Chr10:98423733 [GRCh38]
Chr10:100183490 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1587C>T (p.Ile529=) single nucleotide variant not provided [RCV003735032] Chr10:98423614 [GRCh38]
Chr10:100183371 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1101C>T (p.His367=) single nucleotide variant not provided [RCV003680687] Chr10:98425872 [GRCh38]
Chr10:100185629 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.610_617dup (p.Leu207fs) duplication not provided [RCV003563149] Chr10:98431181..98431182 [GRCh38]
Chr10:100190938..100190939 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.1743+15C>G single nucleotide variant not provided [RCV003564283] Chr10:98422354 [GRCh38]
Chr10:100182111 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.444C>T (p.His148=) single nucleotide variant not provided [RCV003678186] Chr10:98434046 [GRCh38]
Chr10:100193803 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1156-5C>T single nucleotide variant not provided [RCV003862755] Chr10:98425725 [GRCh38]
Chr10:100185482 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.885C>G (p.Ser295=) single nucleotide variant not provided [RCV003680722] Chr10:98429625 [GRCh38]
Chr10:100189382 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1863C>A (p.Tyr621Ter) single nucleotide variant not provided [RCV003542641] Chr10:98418252 [GRCh38]
Chr10:100178009 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.399-3del deletion not provided [RCV003865619] Chr10:98434094 [GRCh38]
Chr10:100193851 [GRCh37]
Chr10:10q24.2		 benign
NM_000195.5(HPS1):c.1858-19C>G single nucleotide variant not provided [RCV003565766] Chr10:98418276 [GRCh38]
Chr10:100178033 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.687G>A (p.Leu229=) single nucleotide variant not provided [RCV003847819] Chr10:98430652 [GRCh38]
Chr10:100190409 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2064C>T (p.Ala688=) single nucleotide variant not provided [RCV003706134] Chr10:98417603 [GRCh38]
Chr10:100177360 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.486G>A (p.Gln162=) single nucleotide variant not provided [RCV003843177] Chr10:98434004 [GRCh38]
Chr10:100193761 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1132_1138del (p.Ile378fs) deletion not provided [RCV003727117] Chr10:98425835..98425841 [GRCh38]
Chr10:100185592..100185598 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.987+11C>T single nucleotide variant not provided [RCV003727127] Chr10:98427204 [GRCh38]
Chr10:100186961 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1053C>A (p.Ile351=) single nucleotide variant not provided [RCV003842437] Chr10:98425920 [GRCh38]
Chr10:100185677 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1156-13C>T single nucleotide variant not provided [RCV003846741] Chr10:98425733 [GRCh38]
Chr10:100185490 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1397+19G>A single nucleotide variant not provided [RCV003862061] Chr10:98424294 [GRCh38]
Chr10:100184051 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.594C>T (p.Ser198=) single nucleotide variant not provided [RCV003568140] Chr10:98431205 [GRCh38]
Chr10:100190962 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.390C>A (p.Ile130=) single nucleotide variant not provided [RCV003704442] Chr10:98435280 [GRCh38]
Chr10:100195037 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.769-1G>A single nucleotide variant not provided [RCV003820338] Chr10:98429890 [GRCh38]
Chr10:100189647 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000195.5(HPS1):c.1764G>A (p.Leu588=) single nucleotide variant not provided [RCV003736127] Chr10:98420138 [GRCh38]
Chr10:100179895 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.2000T>C (p.Leu667Pro) single nucleotide variant not provided [RCV003568651] Chr10:98417667 [GRCh38]
Chr10:100177424 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.1034_1035insCTGGGCCC (p.Ser346fs) insertion not provided [RCV003734475] Chr10:98425938..98425939 [GRCh38]
Chr10:100185695..100185696 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000195.5(HPS1):c.2037G>C (p.Leu679=) single nucleotide variant not provided [RCV003567331] Chr10:98417630 [GRCh38]
Chr10:100177387 [GRCh37]
Chr10:10q24.2		 likely benign
NM_032709.3(PYROXD2):c.124G>C (p.Ala42Pro) single nucleotide variant not specified [RCV004440670] Chr10:98415012 [GRCh38]
Chr10:100174769 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_032709.3(PYROXD2):c.65G>A (p.Arg22Gln) single nucleotide variant not specified [RCV004440678] Chr10:98415071 [GRCh38]
Chr10:100174828 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.937+55G>A single nucleotide variant HPS1-related condition [RCV003914458] Chr10:98429518 [GRCh38]
Chr10:100189275 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000195.5(HPS1):c.1262C>G (p.Ser421Cys) single nucleotide variant Inborn genetic diseases [RCV004402188] Chr10:98425614 [GRCh38]
Chr10:100185371 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.205T>C (p.Tyr69His) single nucleotide variant Inborn genetic diseases [RCV004402189] Chr10:98435685 [GRCh38]
Chr10:100195442 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.2087G>T (p.Arg696Leu) single nucleotide variant Inborn genetic diseases [RCV004402190] Chr10:98417580 [GRCh38]
Chr10:100177337 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.274A>G (p.Ile92Val) single nucleotide variant Inborn genetic diseases [RCV004402191] Chr10:98435396 [GRCh38]
Chr10:100195153 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.962G>A (p.Gly321Asp) single nucleotide variant Inborn genetic diseases [RCV004402198] Chr10:98427240 [GRCh38]
Chr10:100186997 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.571G>A (p.Val191Ile) single nucleotide variant Inborn genetic diseases [RCV004402192] Chr10:98431228 [GRCh38]
Chr10:100190985 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.580G>A (p.Ala194Thr) single nucleotide variant Inborn genetic diseases [RCV004402193] Chr10:98431219 [GRCh38]
Chr10:100190976 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.610G>A (p.Glu204Lys) single nucleotide variant Inborn genetic diseases [RCV004402195] Chr10:98431189 [GRCh38]
Chr10:100190946 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.842C>T (p.Pro281Leu) single nucleotide variant Inborn genetic diseases [RCV004402196] Chr10:98429816 [GRCh38]
Chr10:100189573 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000195.5(HPS1):c.91G>A (p.Gly31Arg) single nucleotide variant Inborn genetic diseases [RCV004402197] Chr10:98443150 [GRCh38]
Chr10:100202907 [GRCh37]
Chr10:10q24.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5493
Count of miRNA genes:1075
Interacting mature miRNAs:1335
Transcripts:ENST00000325103, ENST00000338546, ENST00000359632, ENST00000361490, ENST00000414009, ENST00000462743, ENST00000465957, ENST00000467246, ENST00000470095, ENST00000474873, ENST00000478087, ENST00000480020, ENST00000497527, ENST00000498219
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.

Markers in Region
RH11263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710100,175,992 - 100,176,107UniSTSGRCh37
Build 3610100,165,982 - 100,166,097RGDNCBI36
Celera1093,912,613 - 93,912,728RGD
Cytogenetic Map10q23.1-q23.3UniSTS
Cytogenetic Map10q24.2UniSTS
HuRef1093,800,827 - 93,800,942UniSTS
RH80341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710100,188,934 - 100,189,162UniSTSGRCh37
Build 3610100,178,924 - 100,179,152RGDNCBI36
Celera1093,925,555 - 93,925,783RGD
Cytogenetic Map10q23.1-q23.3UniSTS
HuRef1093,813,769 - 93,813,997UniSTS
GeneMap99-GB4 RH Map10465.39UniSTS
RH47149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710100,176,264 - 100,176,395UniSTSGRCh37
Build 3610100,166,254 - 100,166,385RGDNCBI36
Celera1093,912,885 - 93,913,016RGD
Cytogenetic Map10q23.1-q23.3UniSTS
Cytogenetic Map10q24.2UniSTS
HuRef1093,801,099 - 93,801,230UniSTS
GeneMap99-GB4 RH Map10465.49UniSTS
NCBI RH Map101089.7UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2431 2592 1646 547 1950 388 3703 1258 3162 388 1447 1578 173 1 1204 2135 5 2
Low 8 399 80 77 1 77 654 937 558 31 9 31 1 653 1
Below cutoff 2 2 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001311345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF450133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL702912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF447504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI518436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI966698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ100915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA385131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA479757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY054723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY054726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U96721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000325103   ⟹   ENSP00000326649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,926 (-)Ensembl
RefSeq Acc Id: ENST00000338546   ⟹   ENSP00000343638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,429,151 - 98,446,913 (-)Ensembl
RefSeq Acc Id: ENST00000359632   ⟹   ENSP00000352652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,423,608 - 98,431,282 (-)Ensembl
RefSeq Acc Id: ENST00000361490   ⟹   ENSP00000355310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000414009   ⟹   ENSP00000392462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,429,156 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000462743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,418,152 - 98,420,369 (-)Ensembl
RefSeq Acc Id: ENST00000465957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,442,388 - 98,446,927 (-)Ensembl
RefSeq Acc Id: ENST00000467246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,417,015 - 98,446,887 (-)Ensembl
RefSeq Acc Id: ENST00000470095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,423,617 - 98,434,091 (-)Ensembl
RefSeq Acc Id: ENST00000474873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,435,086 - 98,445,413 (-)Ensembl
RefSeq Acc Id: ENST00000478087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,423,608 - 98,434,091 (-)Ensembl
RefSeq Acc Id: ENST00000480020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,430,571 - 98,446,862 (-)Ensembl
RefSeq Acc Id: ENST00000497527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,423,880 - 98,426,103 (-)Ensembl
RefSeq Acc Id: ENST00000498219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,425,906 - 98,446,873 (-)Ensembl
RefSeq Acc Id: ENST00000613394   ⟹   ENSP00000477926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,199 - 98,446,947 (-)Ensembl
RefSeq Acc Id: ENST00000699112   ⟹   ENSP00000514137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,410,939 - 98,446,915 (-)Ensembl
RefSeq Acc Id: ENST00000699113   ⟹   ENSP00000514138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,411,521 - 98,446,917 (-)Ensembl
RefSeq Acc Id: ENST00000699114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,411,888 - 98,446,939 (-)Ensembl
RefSeq Acc Id: ENST00000699115   ⟹   ENSP00000514139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,411,895 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,434,508 (-)Ensembl
RefSeq Acc Id: ENST00000699117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,435,197 (-)Ensembl
RefSeq Acc Id: ENST00000699118   ⟹   ENSP00000514140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,763 (-)Ensembl
RefSeq Acc Id: ENST00000699119   ⟹   ENSP00000514141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,904 (-)Ensembl
RefSeq Acc Id: ENST00000699120   ⟹   ENSP00000514142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,914 (-)Ensembl
RefSeq Acc Id: ENST00000699121   ⟹   ENSP00000514143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,915 (-)Ensembl
RefSeq Acc Id: ENST00000699122   ⟹   ENSP00000514144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,917 (-)Ensembl
RefSeq Acc Id: ENST00000699123   ⟹   ENSP00000514145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,921 (-)Ensembl
RefSeq Acc Id: ENST00000699124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,925 (-)Ensembl
RefSeq Acc Id: ENST00000699125   ⟹   ENSP00000514146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,925 (-)Ensembl
RefSeq Acc Id: ENST00000699126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699128   ⟹   ENSP00000514147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699129   ⟹   ENSP00000514148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699131   ⟹   ENSP00000514149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699133   ⟹   ENSP00000514150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699134   ⟹   ENSP00000514151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,937 (-)Ensembl
RefSeq Acc Id: ENST00000699135   ⟹   ENSP00000514152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,937 (-)Ensembl
RefSeq Acc Id: ENST00000699136   ⟹   ENSP00000514153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,937 (-)Ensembl
RefSeq Acc Id: ENST00000699137   ⟹   ENSP00000514154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,941 (-)Ensembl
RefSeq Acc Id: ENST00000699138   ⟹   ENSP00000514155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,946 (-)Ensembl
RefSeq Acc Id: ENST00000699139   ⟹   ENSP00000514156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,947 (-)Ensembl
RefSeq Acc Id: ENST00000699140   ⟹   ENSP00000514157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,947 (-)Ensembl
RefSeq Acc Id: ENST00000699141   ⟹   ENSP00000514158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,947 (-)Ensembl
RefSeq Acc Id: ENST00000699142   ⟹   ENSP00000514159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,947 (-)Ensembl
RefSeq Acc Id: ENST00000699143   ⟹   ENSP00000514160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,952 (-)Ensembl
RefSeq Acc Id: ENST00000699144   ⟹   ENSP00000514161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,198 - 98,446,957 (-)Ensembl
RefSeq Acc Id: ENST00000699145   ⟹   ENSP00000514162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,416,243 - 98,446,947 (-)Ensembl
RefSeq Acc Id: ENST00000699146   ⟹   ENSP00000514164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,417,062 - 98,446,961 (-)Ensembl
RefSeq Acc Id: ENST00000699147   ⟹   ENSP00000514165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,417,212 - 98,446,955 (-)Ensembl
RefSeq Acc Id: ENST00000699148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,417,758 - 98,424,490 (-)Ensembl
RefSeq Acc Id: ENST00000699149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,424,699 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,429,187 - 98,446,917 (-)Ensembl
RefSeq Acc Id: ENST00000699151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,429,194 - 98,446,935 (-)Ensembl
RefSeq Acc Id: ENST00000699152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,429,205 - 98,446,917 (-)Ensembl
RefSeq Acc Id: ENST00000699153   ⟹   ENSP00000514166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,429,210 - 98,446,917 (-)Ensembl
RefSeq Acc Id: ENST00000699154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,430,109 - 98,446,917 (-)Ensembl
RefSeq Acc Id: ENST00000699155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,431,864 - 98,446,915 (-)Ensembl
RefSeq Acc Id: ENST00000699156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,431,877 - 98,446,963 (-)Ensembl
RefSeq Acc Id: ENST00000699157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,441,904 - 98,446,910 (-)Ensembl
RefSeq Acc Id: ENST00000699158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1098,441,910 - 98,446,937 (-)Ensembl
RefSeq Acc Id: NM_000195   ⟹   NP_000186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
GRCh3710100,175,955 - 100,206,720 (-)NCBI
Build 3610100,165,946 - 100,196,694 (-)NCBI Archive
HuRef1093,800,790 - 93,831,456 (-)ENTREZGENE
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001311345   ⟹   NP_001298274
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322476   ⟹   NP_001309405
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322477   ⟹   NP_001309406
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322478   ⟹   NP_001309407
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322479   ⟹   NP_001309408
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322480   ⟹   NP_001309409
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322481   ⟹   NP_001309410
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322482   ⟹   NP_001309411
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322483   ⟹   NP_001309412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322484   ⟹   NP_001309413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322485   ⟹   NP_001309414
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322487   ⟹   NP_001309416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322489   ⟹   NP_001309418
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
CHM1_110100,457,816 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322490   ⟹   NP_001309419
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,429,144 - 98,446,935 (-)NCBI
CHM1_110100,470,762 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,309,122 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322491   ⟹   NP_001309420
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,429,144 - 98,446,935 (-)NCBI
CHM1_110100,470,762 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,309,122 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322492   ⟹   NP_001309421
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,429,144 - 98,446,935 (-)NCBI
CHM1_110100,470,762 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,309,122 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182639   ⟹   NP_872577
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,429,144 - 98,446,935 (-)NCBI
GRCh3710100,175,955 - 100,206,720 (-)NCBI
Build 3610100,178,891 - 100,196,694 (-)NCBI Archive
HuRef1093,800,790 - 93,831,456 (-)ENTREZGENE
CHM1_110100,470,762 - 100,488,581 (-)NCBI
T2T-CHM13v2.01099,309,122 - 99,326,913 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269757   ⟹   XP_005269814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,775 (-)NCBI
GRCh3710100,175,955 - 100,206,720 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016173   ⟹   XP_016871662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,429,144 - 98,446,935 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425146   ⟹   XP_047281102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,775 (-)NCBI
RefSeq Acc Id: XM_047425147   ⟹   XP_047281103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
RefSeq Acc Id: XM_047425148   ⟹   XP_047281104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
RefSeq Acc Id: XM_047425149   ⟹   XP_047281105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,416,198 - 98,446,935 (-)NCBI
RefSeq Acc Id: XM_047425150   ⟹   XP_047281106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,429,144 - 98,446,935 (-)NCBI
RefSeq Acc Id: XM_047425151   ⟹   XP_047281107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,429,144 - 98,446,935 (-)NCBI
RefSeq Acc Id: XM_047425152   ⟹   XP_047281108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,429,144 - 98,446,775 (-)NCBI
RefSeq Acc Id: XM_054365704   ⟹   XP_054221679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01099,296,176 - 99,326,714 (-)NCBI
RefSeq Acc Id: XM_054365705   ⟹   XP_054221680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
RefSeq Acc Id: XM_054365706   ⟹   XP_054221681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
RefSeq Acc Id: XM_054365707   ⟹   XP_054221682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01099,296,176 - 99,326,913 (-)NCBI
RefSeq Acc Id: XM_054365708   ⟹   XP_054221683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01099,309,122 - 99,326,913 (-)NCBI
RefSeq Acc Id: XM_054365709   ⟹   XP_054221684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01099,309,122 - 99,326,913 (-)NCBI
RefSeq Acc Id: XM_054365710   ⟹   XP_054221685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01099,309,122 - 99,326,787 (-)NCBI
RefSeq Acc Id: XM_054365711   ⟹   XP_054221686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01099,309,122 - 99,326,913 (-)NCBI
RefSeq Acc Id: XR_001747098
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,413,948 - 98,446,935 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007061961
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,413,948 - 98,446,935 (-)NCBI
RefSeq Acc Id: XR_008488201
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01099,296,171 - 99,326,913 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000186 (Get FASTA)   NCBI Sequence Viewer  
  NP_001298274 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309405 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309406 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309407 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309408 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309409 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309410 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309411 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309412 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309413 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309414 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309416 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309418 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309419 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309420 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309421 (Get FASTA)   NCBI Sequence Viewer  
  NP_872577 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269814 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871662 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281102 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281103 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281104 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281105 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281106 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281107 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281108 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221679 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221680 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221681 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221682 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221683 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221684 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221685 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221686 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB17869 (Get FASTA)   NCBI Sequence Viewer  
  AAC52074 (Get FASTA)   NCBI Sequence Viewer  
  AAH00175 (Get FASTA)   NCBI Sequence Viewer  
  AAL50684 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33572 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33573 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33574 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33575 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33576 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33577 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33578 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33579 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33580 (Get FASTA)   NCBI Sequence Viewer  
  APX42426 (Get FASTA)   NCBI Sequence Viewer  
  BAG58638 (Get FASTA)   NCBI Sequence Viewer  
  CAH56230 (Get FASTA)   NCBI Sequence Viewer  
  EAW49877 (Get FASTA)   NCBI Sequence Viewer  
  EAW49878 (Get FASTA)   NCBI Sequence Viewer  
  EAW49879 (Get FASTA)   NCBI Sequence Viewer  
  EAW49880 (Get FASTA)   NCBI Sequence Viewer  
  EAW49881 (Get FASTA)   NCBI Sequence Viewer  
  EAW49882 (Get FASTA)   NCBI Sequence Viewer  
  EAW49883 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000326649
  ENSP00000326649.6
  ENSP00000343638
  ENSP00000343638.5
  ENSP00000355310
  ENSP00000355310.4
  ENSP00000392462
  ENSP00000392462.2
  ENSP00000514137
  ENSP00000514137.1
  ENSP00000514138.1
  ENSP00000514139.1
  ENSP00000514140.1
  ENSP00000514141.1
  ENSP00000514142.1
  ENSP00000514143.1
  ENSP00000514144.1
  ENSP00000514145.1
  ENSP00000514146
  ENSP00000514146.1
  ENSP00000514147.1
  ENSP00000514148.1
  ENSP00000514149.1
  ENSP00000514150.1
  ENSP00000514151.1
  ENSP00000514152.1
  ENSP00000514153
  ENSP00000514153.1
  ENSP00000514154.1
  ENSP00000514155.1
  ENSP00000514156
  ENSP00000514156.1
  ENSP00000514157
  ENSP00000514157.1
  ENSP00000514158.1
  ENSP00000514159
  ENSP00000514159.1
  ENSP00000514160.1
  ENSP00000514161.1
  ENSP00000514162.1
  ENSP00000514163.1
  ENSP00000514164.1
  ENSP00000514165.1
  ENSP00000514166.1
  ENSP00000514167.1
GenBank Protein Q92902 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000186   ⟸   NM_000195
- Peptide Label: isoform a
- UniProtKB: Q5TAA3 (UniProtKB/Swiss-Prot),   O15502 (UniProtKB/Swiss-Prot),   O15402 (UniProtKB/Swiss-Prot),   A8MRT2 (UniProtKB/Swiss-Prot),   Q8WXE5 (UniProtKB/Swiss-Prot),   Q92902 (UniProtKB/Swiss-Prot),   A0A8V8TN99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_872577   ⟸   NM_182639
- Peptide Label: isoform c
- UniProtKB: A0A0S2Z3U9 (UniProtKB/TrEMBL),   B4DIX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269814   ⟸   XM_005269757
- Peptide Label: isoform X1
- UniProtKB: Q5TAA3 (UniProtKB/Swiss-Prot),   O15502 (UniProtKB/Swiss-Prot),   O15402 (UniProtKB/Swiss-Prot),   A8MRT2 (UniProtKB/Swiss-Prot),   Q8WXE5 (UniProtKB/Swiss-Prot),   Q92902 (UniProtKB/Swiss-Prot),   A0A8V8TN99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309412   ⟸   NM_001322483
- Peptide Label: isoform i
- Sequence:
RefSeq Acc Id: NP_001309409   ⟸   NM_001322480
- Peptide Label: isoform g
- UniProtKB: A0A8V8TN94 (UniProtKB/TrEMBL),   A0A8V8TP59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309407   ⟸   NM_001322478
- Peptide Label: isoform f
- UniProtKB: A0A8V8TN90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309405   ⟸   NM_001322476
- Peptide Label: isoform a
- UniProtKB: Q5TAA3 (UniProtKB/Swiss-Prot),   O15502 (UniProtKB/Swiss-Prot),   O15402 (UniProtKB/Swiss-Prot),   A8MRT2 (UniProtKB/Swiss-Prot),   Q8WXE5 (UniProtKB/Swiss-Prot),   Q92902 (UniProtKB/Swiss-Prot),   A0A8V8TN99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309414   ⟸   NM_001322485
- Peptide Label: isoform j
- Sequence:
RefSeq Acc Id: NP_001309413   ⟸   NM_001322484
- Peptide Label: isoform i
- Sequence:
RefSeq Acc Id: NP_001309411   ⟸   NM_001322482
- Peptide Label: isoform h
- UniProtKB: A0A8V8TMQ9 (UniProtKB/TrEMBL),   A0A8V8TP59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309410   ⟸   NM_001322481
- Peptide Label: isoform g
- UniProtKB: A0A8V8TN94 (UniProtKB/TrEMBL),   A0A8V8TP59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309418   ⟸   NM_001322489
- Peptide Label: isoform e
- UniProtKB: Q658M9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309408   ⟸   NM_001322479
- Peptide Label: isoform f
- UniProtKB: A0A8V8TN90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309406   ⟸   NM_001322477
- Peptide Label: isoform a
- UniProtKB: Q5TAA3 (UniProtKB/Swiss-Prot),   O15502 (UniProtKB/Swiss-Prot),   O15402 (UniProtKB/Swiss-Prot),   A8MRT2 (UniProtKB/Swiss-Prot),   Q8WXE5 (UniProtKB/Swiss-Prot),   Q92902 (UniProtKB/Swiss-Prot),   A0A8V8TN99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001298274   ⟸   NM_001311345
- Peptide Label: isoform e
- UniProtKB: Q658M9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309416   ⟸   NM_001322487
- Peptide Label: isoform e
- UniProtKB: Q658M9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309420   ⟸   NM_001322491
- Peptide Label: isoform l
- UniProtKB: A0A0S2Z3U1 (UniProtKB/TrEMBL),   H0Y4K4 (UniProtKB/TrEMBL),   B4DIX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309421   ⟸   NM_001322492
- Peptide Label: isoform m
- UniProtKB: A0A0S2Z3X2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309419   ⟸   NM_001322490
- Peptide Label: isoform k
- UniProtKB: A0A0S2Z3Z8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871662   ⟸   XM_017016173
- Peptide Label: isoform X5
- UniProtKB: A0A0S2Z3X2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000352652   ⟸   ENST00000359632
RefSeq Acc Id: ENSP00000392462   ⟸   ENST00000414009
RefSeq Acc Id: ENSP00000355310   ⟸   ENST00000361490
RefSeq Acc Id: ENSP00000477926   ⟸   ENST00000613394
RefSeq Acc Id: ENSP00000343638   ⟸   ENST00000338546
RefSeq Acc Id: ENSP00000326649   ⟸   ENST00000325103
RefSeq Acc Id: XP_047281105   ⟸   XM_047425149
- Peptide Label: isoform X2
- UniProtKB: A0A8V8TN94 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281103   ⟸   XM_047425147
- Peptide Label: isoform X1
- UniProtKB: Q92902 (UniProtKB/Swiss-Prot),   Q5TAA3 (UniProtKB/Swiss-Prot),   O15502 (UniProtKB/Swiss-Prot),   O15402 (UniProtKB/Swiss-Prot),   A8MRT2 (UniProtKB/Swiss-Prot),   Q8WXE5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047281104   ⟸   XM_047425148
- Peptide Label: isoform X2
- UniProtKB: A0A8V8TN94 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281102   ⟸   XM_047425146
- Peptide Label: isoform X1
- UniProtKB: Q92902 (UniProtKB/Swiss-Prot),   Q5TAA3 (UniProtKB/Swiss-Prot),   O15502 (UniProtKB/Swiss-Prot),   O15402 (UniProtKB/Swiss-Prot),   A8MRT2 (UniProtKB/Swiss-Prot),   Q8WXE5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047281106   ⟸   XM_047425150
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047281107   ⟸   XM_047425151
- Peptide Label: isoform X4
- UniProtKB: A0A0S2Z3U1 (UniProtKB/TrEMBL),   H0Y4K4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281108   ⟸   XM_047425152
- Peptide Label: isoform X4
- UniProtKB: A0A0S2Z3U1 (UniProtKB/TrEMBL),   H0Y4K4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000514140   ⟸   ENST00000699118
RefSeq Acc Id: ENSP00000514138   ⟸   ENST00000699113
RefSeq Acc Id: ENSP00000514157   ⟸   ENST00000699140
RefSeq Acc Id: ENSP00000514161   ⟸   ENST00000699144
RefSeq Acc Id: ENSP00000514141   ⟸   ENST00000699119
RefSeq Acc Id: ENSP00000514154   ⟸   ENST00000699137
RefSeq Acc Id: ENSP00000514156   ⟸   ENST00000699139
RefSeq Acc Id: ENSP00000514148   ⟸   ENST00000699129
RefSeq Acc Id: ENSP00000514150   ⟸   ENST00000699133
RefSeq Acc Id: ENSP00000514152   ⟸   ENST00000699135
RefSeq Acc Id: ENSP00000514137   ⟸   ENST00000699112
RefSeq Acc Id: ENSP00000514164   ⟸   ENST00000699146
RefSeq Acc Id: ENSP00000514149   ⟸   ENST00000699131
RefSeq Acc Id: ENSP00000514160   ⟸   ENST00000699143
RefSeq Acc Id: ENSP00000514165   ⟸   ENST00000699147
RefSeq Acc Id: ENSP00000514151   ⟸   ENST00000699134
RefSeq Acc Id: ENSP00000514155   ⟸   ENST00000699138
RefSeq Acc Id: ENSP00000514153   ⟸   ENST00000699136
RefSeq Acc Id: ENSP00000514166   ⟸   ENST00000699153
RefSeq Acc Id: ENSP00000514162   ⟸   ENST00000699145
RefSeq Acc Id: ENSP00000514145   ⟸   ENST00000699123
RefSeq Acc Id: ENSP00000514158   ⟸   ENST00000699141
RefSeq Acc Id: ENSP00000514139   ⟸   ENST00000699115
RefSeq Acc Id: ENSP00000514142   ⟸   ENST00000699120
RefSeq Acc Id: ENSP00000514146   ⟸   ENST00000699125
RefSeq Acc Id: ENSP00000514159   ⟸   ENST00000699142
RefSeq Acc Id: ENSP00000514143   ⟸   ENST00000699121
RefSeq Acc Id: ENSP00000514147   ⟸   ENST00000699128
RefSeq Acc Id: ENSP00000514144   ⟸   ENST00000699122
RefSeq Acc Id: XP_054221682   ⟸   XM_054365707
- Peptide Label: isoform X2
- UniProtKB: A0A8V8TN94 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221680   ⟸   XM_054365705
- Peptide Label: isoform X1
- UniProtKB: Q92902 (UniProtKB/Swiss-Prot),   Q5TAA3 (UniProtKB/Swiss-Prot),   O15502 (UniProtKB/Swiss-Prot),   O15402 (UniProtKB/Swiss-Prot),   A8MRT2 (UniProtKB/Swiss-Prot),   Q8WXE5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054221681   ⟸   XM_054365706
- Peptide Label: isoform X2
- UniProtKB: A0A8V8TN94 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221679   ⟸   XM_054365704
- Peptide Label: isoform X1
- UniProtKB: Q92902 (UniProtKB/Swiss-Prot),   Q5TAA3 (UniProtKB/Swiss-Prot),   O15502 (UniProtKB/Swiss-Prot),   O15402 (UniProtKB/Swiss-Prot),   A8MRT2 (UniProtKB/Swiss-Prot),   Q8WXE5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054221683   ⟸   XM_054365708
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054221684   ⟸   XM_054365709
- Peptide Label: isoform X4
- UniProtKB: A0A0S2Z3U1 (UniProtKB/TrEMBL),   H0Y4K4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221686   ⟸   XM_054365711
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054221685   ⟸   XM_054365710
- Peptide Label: isoform X4
- UniProtKB: A0A0S2Z3U1 (UniProtKB/TrEMBL),   H0Y4K4 (UniProtKB/TrEMBL)
Protein Domains
FUZ/MON1/HPS1 first Longin   FUZ/MON1/HPS1 second Longin   FUZ/MON1/HPS1 third Longin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92902-F1-model_v2 AlphaFold Q92902 1-700 view protein structure

Promoters
RGD ID:7218367
Promoter ID:EPDNEW_H14928
Type:initiation region
Name:HPS1_1
Description:HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381098,446,915 - 98,446,975EPDNEW
RGD ID:6787787
Promoter ID:HG_KWN:10800
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000049773,   UC009XWA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3610100,175,256 - 100,175,756 (-)MPROMDB
RGD ID:6787765
Promoter ID:HG_KWN:10804
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000049774
Position:
Human AssemblyChrPosition (strand)Source
Build 3610100,195,856 - 100,196,356 (-)MPROMDB
RGD ID:6787791
Promoter ID:HG_KWN:10805
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:ENST00000249092,   ENST00000325103,   ENST00000338546,   ENST00000359632,   ENST00000407891,   OTTHUMT00000049769,   OTTHUMT00000049770,   OTTHUMT00000049776,   OTTHUMT00000049779,   UC001KPI.1,   UC001KPK.1,   UC001KPM.1,   UC009XWB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3610100,196,394 - 100,196,894 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5163 AgrOrtholog
COSMIC HPS1 COSMIC
Ensembl Genes ENSG00000107521 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000289758 UniProtKB/TrEMBL
Ensembl Transcript ENST00000325103 ENTREZGENE
  ENST00000325103.10 UniProtKB/Swiss-Prot
  ENST00000338546 ENTREZGENE
  ENST00000338546.9 UniProtKB/Swiss-Prot
  ENST00000361490 ENTREZGENE
  ENST00000361490.9 UniProtKB/Swiss-Prot
  ENST00000414009 ENTREZGENE
  ENST00000414009.2 UniProtKB/TrEMBL
  ENST00000467246.5 UniProtKB/TrEMBL
  ENST00000699112 ENTREZGENE
  ENST00000699112.1 UniProtKB/TrEMBL
  ENST00000699113.1 UniProtKB/TrEMBL
  ENST00000699115.1 UniProtKB/TrEMBL
  ENST00000699118.1 UniProtKB/TrEMBL
  ENST00000699119.1 UniProtKB/TrEMBL
  ENST00000699120.1 UniProtKB/TrEMBL
  ENST00000699121.1 UniProtKB/TrEMBL
  ENST00000699122.1 UniProtKB/TrEMBL
  ENST00000699123.1 UniProtKB/TrEMBL
  ENST00000699125 ENTREZGENE
  ENST00000699125.1 UniProtKB/TrEMBL
  ENST00000699128.1 UniProtKB/TrEMBL
  ENST00000699129.1 UniProtKB/TrEMBL
  ENST00000699131.1 UniProtKB/TrEMBL
  ENST00000699133.1 UniProtKB/TrEMBL
  ENST00000699134.1 UniProtKB/TrEMBL
  ENST00000699135.1 UniProtKB/TrEMBL
  ENST00000699136 ENTREZGENE
  ENST00000699136.1 UniProtKB/Swiss-Prot
  ENST00000699137.1 UniProtKB/TrEMBL
  ENST00000699138.1 UniProtKB/TrEMBL
  ENST00000699139 ENTREZGENE
  ENST00000699139.1 UniProtKB/TrEMBL
  ENST00000699140 ENTREZGENE
  ENST00000699140.1 UniProtKB/Swiss-Prot
  ENST00000699141.1 UniProtKB/TrEMBL
  ENST00000699142 ENTREZGENE
  ENST00000699142.1 UniProtKB/Swiss-Prot
  ENST00000699143.1 UniProtKB/TrEMBL
  ENST00000699144.1 UniProtKB/TrEMBL
  ENST00000699145.1 UniProtKB/Swiss-Prot
  ENST00000699146.1 UniProtKB/TrEMBL
  ENST00000699147.1 UniProtKB/TrEMBL
  ENST00000699153.1 UniProtKB/TrEMBL
  ENST00000699159.1 UniProtKB/TrEMBL
GTEx ENSG00000107521 GTEx
  ENSG00000289758 GTEx
HGNC ID HGNC:5163 ENTREZGENE
Human Proteome Map HPS1 Human Proteome Map
InterPro FUZ/MON1/HPS1_longin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FUZ/MON1/HPS1_longin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FUZ/MON1/HPS1_longin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HPS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3257 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3257 ENTREZGENE
OMIM 604982 OMIM
PANTHER HERMANSKY-PUDLAK SYNDROME 1 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12761 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fuz_longin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fuz_longin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fuz_longin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35101 PharmGKB
UniProt A0A0S2Z3T0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3U1 ENTREZGENE
  A0A0S2Z3U9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3X2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3Z0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3Z8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z445_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4H4_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4N3_HUMAN UniProtKB/TrEMBL
  A0A1P8NQB7_HUMAN UniProtKB/TrEMBL
  A0A8V8TMQ9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TMR7_HUMAN UniProtKB/TrEMBL
  A0A8V8TMR9_HUMAN UniProtKB/TrEMBL
  A0A8V8TMS4_HUMAN UniProtKB/TrEMBL
  A0A8V8TN79_HUMAN UniProtKB/TrEMBL
  A0A8V8TN86_HUMAN UniProtKB/TrEMBL
  A0A8V8TN90 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TN94 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TN99 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TP54_HUMAN UniProtKB/TrEMBL
  A0A8V8TP59 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TP64_HUMAN UniProtKB/TrEMBL
  A0A8V8TP71_HUMAN UniProtKB/TrEMBL
  A0A8V8TPI6_HUMAN UniProtKB/TrEMBL
  A0A8V8TPJ1_HUMAN UniProtKB/TrEMBL
  A8MRT2 ENTREZGENE
  B4DIX6 ENTREZGENE, UniProtKB/TrEMBL
  H0Y4K4 ENTREZGENE, UniProtKB/TrEMBL
  HPS1_HUMAN UniProtKB/Swiss-Prot
  O15402 ENTREZGENE
  O15502 ENTREZGENE
  Q5TAA3 ENTREZGENE
  Q658M9 ENTREZGENE, UniProtKB/TrEMBL
  Q8WXE5 ENTREZGENE
  Q92902 ENTREZGENE
UniProt Secondary A0A0S2Z3U1 UniProtKB/TrEMBL
  A8MRT2 UniProtKB/Swiss-Prot
  O15402 UniProtKB/Swiss-Prot
  O15502 UniProtKB/Swiss-Prot
  Q5TAA3 UniProtKB/Swiss-Prot
  Q8WXE5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 HPS1  HPS1 biogenesis of lysosomal organelles complex 3 subunit 1  HPS1  HPS1, biogenesis of lysosomal organelles complex 3 subunit 1  Symbol and/or name change 5135510 APPROVED
2016-02-29 HPS1  HPS1, biogenesis of lysosomal organelles complex 3 subunit 1  HPS1  Hermansky-Pudlak syndrome 1  Symbol and/or name change 5135510 APPROVED