HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1) - Rat Genome Database

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Gene: HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1) Homo sapiens
Analyze
Symbol: HPS3
Name: HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
RGD ID: 1321513
HGNC Page HGNC:15597
Description: Predicted to act upstream of or within pigmentation. Part of BLOC-2 complex. Implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BLOC-2 complex member HPS3; BLOC2S1; DKFZp686F0413; FLJ22704; Hermansky-Pudlak syndrome 3 protein; HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; SUTAL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383149,129,638 - 149,173,732 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3149,129,638 - 149,173,732 (+)EnsemblGRCh38hg38GRCh38
GRCh373148,847,425 - 148,891,519 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363150,330,061 - 150,373,995 (+)NCBINCBI36Build 36hg18NCBI36
Build 343150,330,068 - 150,374,003NCBI
Celera3147,257,896 - 147,301,827 (+)NCBICelera
Cytogenetic Map3q24NCBI
HuRef3146,218,659 - 146,262,596 (+)NCBIHuRef
CHM1_13148,810,445 - 148,854,378 (+)NCBICHM1_1
T2T-CHM13v2.03151,880,375 - 151,924,479 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Anikster Y, etal., Nat Genet. 2001 Aug;28(4):376-80.
2. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Huizing M, etal., Am J Hum Genet. 2001 Nov;69(5):1022-32. Epub 2001 Oct 3.
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:8889548   PMID:9497254   PMID:11707070   PMID:12125811   PMID:12477932   PMID:12847290   PMID:14702039   PMID:15030569   PMID:15489334   PMID:15632015   PMID:16159387   PMID:16417222  
PMID:17365864   PMID:20301464   PMID:20562649   PMID:21873635   PMID:22658674   PMID:23084991   PMID:23247405   PMID:25189619   PMID:25476789   PMID:26186194   PMID:27593200   PMID:28514442  
PMID:28611215   PMID:29507755   PMID:29509190   PMID:29568061   PMID:30745168   PMID:31611645   PMID:31621111   PMID:33961781   PMID:34079125   PMID:34432599   PMID:35271311   PMID:36672886  


Genomics

Comparative Map Data
HPS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383149,129,638 - 149,173,732 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3149,129,638 - 149,173,732 (+)EnsemblGRCh38hg38GRCh38
GRCh373148,847,425 - 148,891,519 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363150,330,061 - 150,373,995 (+)NCBINCBI36Build 36hg18NCBI36
Build 343150,330,068 - 150,374,003NCBI
Celera3147,257,896 - 147,301,827 (+)NCBICelera
Cytogenetic Map3q24NCBI
HuRef3146,218,659 - 146,262,596 (+)NCBIHuRef
CHM1_13148,810,445 - 148,854,378 (+)NCBICHM1_1
T2T-CHM13v2.03151,880,375 - 151,924,479 (+)NCBIT2T-CHM13v2.0
Hps3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39320,050,109 - 20,089,478 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl320,050,109 - 20,089,479 (-)EnsemblGRCm39 Ensembl
GRCm38319,995,945 - 20,035,334 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl319,995,945 - 20,035,315 (-)EnsemblGRCm38mm10GRCm38
MGSCv37319,895,945 - 19,935,310 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36320,188,102 - 20,227,431 (-)NCBIMGSCv36mm8
Celera319,985,203 - 20,024,665 (-)NCBICelera
Cytogenetic Map3A2NCBI
cM Map36.12NCBI
Hps3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82104,413,618 - 104,455,091 (-)NCBIGRCr8
mRatBN7.22102,484,574 - 102,527,580 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2102,484,574 - 102,526,047 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2108,997,846 - 109,039,436 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02107,118,992 - 107,160,587 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02102,081,972 - 102,123,431 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02104,789,423 - 104,832,964 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2104,789,423 - 104,830,898 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02124,510,727 - 124,551,506 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42105,135,644 - 105,177,925 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12105,081,437 - 105,122,835 (-)NCBI
Celera297,855,105 - 97,896,551 (-)NCBICelera
Cytogenetic Map2q24NCBI
Hps3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955448438,152 - 465,955 (+)NCBIChiLan1.0ChiLan1.0
HPS3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22147,018,683 - 147,062,333 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13147,023,393 - 147,067,063 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03146,147,140 - 146,190,793 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13153,725,008 - 153,769,060 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3153,725,008 - 153,769,060 (+)Ensemblpanpan1.1panPan2
HPS3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12343,939,829 - 43,979,446 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2343,939,824 - 43,988,555 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2343,804,492 - 43,843,689 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02344,566,353 - 44,606,057 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2344,566,394 - 44,607,003 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12344,155,109 - 44,194,768 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02344,203,599 - 44,242,773 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02344,457,634 - 44,496,845 (+)NCBIUU_Cfam_GSD_1.0
Hps3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560283,229,063 - 83,263,915 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365196,466,212 - 6,499,101 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365196,470,077 - 6,530,897 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HPS3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1389,360,874 - 89,410,525 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11389,360,829 - 89,409,502 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21397,352,753 - 97,401,807 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HPS3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11541,537,122 - 41,581,994 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1541,537,837 - 41,581,929 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604114,379,184 - 14,424,269 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hps3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473026,426,578 - 26,469,777 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473026,426,495 - 26,469,744 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HPS3
1036 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032383.5(HPS3):c.2888-1612G>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000004877]|not provided [RCV002512778] Chr3:149170483 [GRCh38]
Chr3:148888270 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_032383.4(HPS3):c.2482-2A>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000020914] Chr3:149163840 [GRCh38]
Chr3:148881627 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.0_217+692del deletion Hermansky-Pudlak syndrome 3 [RCV000004871] Chr3:149126714..149130632 [GRCh38]
Chr3:148844501..148848419 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1163+1G>A single nucleotide variant HPS3-related disorder [RCV004745146]|Hermansky-Pudlak syndrome 3 [RCV000004872]|Hermansky-Pudlak syndrome [RCV000826142]|not provided [RCV000724652] Chr3:149145547 [GRCh38]
Chr3:148863334 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1691+2T>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000004873] Chr3:149157533 [GRCh38]
Chr3:148875320 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2482-2A>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000004874]|Hermansky-Pudlak syndrome [RCV001831513]|not provided [RCV001384936] Chr3:149163840 [GRCh38]
Chr3:148881627 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2589+1G>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000004875]|not provided [RCV001851657] Chr3:149163950 [GRCh38]
Chr3:148881737 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000004876]|Hermansky-Pudlak syndrome [RCV001272473]|not provided [RCV001070228] Chr3:149150624 [GRCh38]
Chr3:148868411 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
HPS3, 89-BP INS single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000004877] Chr3:3q24 pathogenic
NM_032383.5(HPS3):c.1206A>G (p.Ala402=) single nucleotide variant not provided [RCV001394443] Chr3:149150641 [GRCh38]
Chr3:148868428 [GRCh37]
Chr3:3q24		 likely benign
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) microsatellite Hermansky-Pudlak syndrome 3 [RCV000661946]|not provided [RCV001855395] Chr3:149167180..149167183 [GRCh38]
Chr3:148884967..148884970 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1509+6C>G single nucleotide variant Malignant tumor of prostate [RCV000149318] Chr3:149155221 [GRCh38]
Chr3:148873008 [GRCh37]
Chr3:3q24		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1		 pathogenic|likely benign
GRCh38/hg38 3q24-25.1(chr3:149137353-149419900)x1 copy number loss See cases [RCV000143309] Chr3:149137353..149419900 [GRCh38]
Chr3:148855140..149137687 [GRCh37]
Chr3:150337830..150620377 [NCBI36]
Chr3:3q24-25.1		 uncertain significance
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000407920]|Hermansky-Pudlak syndrome [RCV001272475]|not provided [RCV001522008]|not specified [RCV000150816] Chr3:149155200 [GRCh38]
Chr3:148872987 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2526C>T (p.His842=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000379483]|Hermansky-Pudlak syndrome [RCV001273477]|not provided [RCV001515321]|not specified [RCV000150817] Chr3:149163886 [GRCh38]
Chr3:148881673 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.970+7A>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000664802]|Hermansky-Pudlak syndrome [RCV001272471]|not provided [RCV001521478]|not specified [RCV000155544] Chr3:149141387 [GRCh38]
Chr3:148859174 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.981A>G (p.Thr327=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000376220]|Hermansky-Pudlak syndrome [RCV001272472]|not provided [RCV001520210]|not specified [RCV000155545] Chr3:149145364 [GRCh38]
Chr3:148863151 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000368556]|Hermansky-Pudlak syndrome [RCV001272474]|not provided [RCV001520790]|not specified [RCV000155546] Chr3:149155185 [GRCh38]
Chr3:148872972 [GRCh37]
Chr3:3q24		 benign|likely benign
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
NM_000096.4(CP):c.*769G>A single nucleotide variant Deficiency of ferroxidase [RCV000354403]|Hermansky-Pudlak syndrome 3 [RCV000262365]|not provided [RCV004716035] Chr3:149172945 [GRCh38]
Chr3:148890732 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000666103]|Hermansky-Pudlak syndrome [RCV001275835]|not provided [RCV000888939]|not specified [RCV000215672] Chr3:149141127 [GRCh38]
Chr3:148858914 [GRCh37]
Chr3:3q24		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000264858]|Hermansky-Pudlak syndrome [RCV001275846]|not provided [RCV000951069]|not specified [RCV000222602] Chr3:149162256 [GRCh38]
Chr3:148880043 [GRCh37]
Chr3:3q24		 benign|uncertain significance
NM_032383.5(HPS3):c.51C>T (p.Pro17=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000305766]|Hermansky-Pudlak syndrome [RCV001272470]|not provided [RCV000895086]|not specified [RCV000214766] Chr3:149129774 [GRCh38]
Chr3:148847561 [GRCh37]
Chr3:3q24		 benign|likely benign|uncertain significance
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000328208]|Hermansky-Pudlak syndrome [RCV001273475]|not provided [RCV000972104]|not specified [RCV000219052] Chr3:149160228 [GRCh38]
Chr3:148878015 [GRCh37]
Chr3:3q24		 benign|likely benign|uncertain significance
NM_000096.4(CP):c.*509A>C single nucleotide variant Deficiency of ferroxidase [RCV000269434]|Hermansky-Pudlak syndrome 3 [RCV000326802]|not provided [RCV001824309] Chr3:149173205 [GRCh38]
Chr3:148890992 [GRCh37]
Chr3:3q24		 benign|likely benign|uncertain significance
NM_032383.5(HPS3):c.*135T>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000273647]|not provided [RCV004694713] Chr3:149172357 [GRCh38]
Chr3:148890144 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000284288]|Hermansky-Pudlak syndrome [RCV001833468]|Inborn genetic diseases [RCV002523247]|not provided [RCV001301343] Chr3:149145519 [GRCh38]
Chr3:148863306 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2887+19dup duplication Deficiency of ferroxidase [RCV000325027]|Hermansky-Pudlak syndrome [RCV000280447]|not provided [RCV001522009]|not specified [RCV000455632] Chr3:149167992..149167993 [GRCh38]
Chr3:148885779..148885780 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2796+50C>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001543871]|not provided [RCV001683125]|not specified [RCV000251665] Chr3:149167290 [GRCh38]
Chr3:148885077 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) single nucleotide variant HPS3-related disorder [RCV003950208]|Hermansky-Pudlak syndrome 3 [RCV000270833]|Hermansky-Pudlak syndrome [RCV001272476]|not provided [RCV000961496] Chr3:149158795 [GRCh38]
Chr3:148876582 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.1164-25C>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001543867]|not provided [RCV001683124]|not specified [RCV000247225] Chr3:149150574 [GRCh38]
Chr3:148868361 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000268648]|not provided [RCV003765987] Chr3:149167102 [GRCh38]
Chr3:148884889 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.571G>A (p.Val191Ile) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000299530] Chr3:149140357 [GRCh38]
Chr3:148858144 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) single nucleotide variant HPS3-related disorder [RCV003922504]|Hermansky-Pudlak syndrome 3 [RCV000315096]|Hermansky-Pudlak syndrome [RCV001275843]|not provided [RCV000889435]|not specified [RCV001821041] Chr3:149158685 [GRCh38]
Chr3:148876472 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000353344]|Hermansky-Pudlak syndrome [RCV001275833]|not provided [RCV000889434] Chr3:149129881 [GRCh38]
Chr3:148847668 [GRCh37]
Chr3:3q24		 benign|likely benign|uncertain significance
NM_000096.4(CP):c.*768T>C single nucleotide variant Deficiency of ferroxidase [RCV000301114]|Hermansky-Pudlak syndrome 3 [RCV000367596]|not provided [RCV004710936] Chr3:149172946 [GRCh38]
Chr3:148890733 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000400485]|not provided [RCV002523248] Chr3:149145536 [GRCh38]
Chr3:148863323 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000316729]|Hermansky-Pudlak syndrome [RCV001275850]|not provided [RCV000931988] Chr3:149167136 [GRCh38]
Chr3:148884923 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.573T>C (p.Val191=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000356656]|not provided [RCV001491861] Chr3:149140359 [GRCh38]
Chr3:148858146 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) single nucleotide variant HPS3-related disorder [RCV004745349]|Hermansky-Pudlak syndrome 3 [RCV000401104]|Hermansky-Pudlak syndrome [RCV001275841]|not provided [RCV000891475]|not specified [RCV001821040] Chr3:149153614 [GRCh38]
Chr3:148871401 [GRCh37]
Chr3:3q24		 benign|likely benign|uncertain significance
NM_000096.4(CP):c.*912C>G single nucleotide variant Deficiency of ferroxidase [RCV000401454]|Hermansky-Pudlak syndrome 3 [RCV001150406] Chr3:149172802 [GRCh38]
Chr3:148890589 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*879A>C single nucleotide variant Deficiency of ferroxidase [RCV000303144]|Hermansky-Pudlak syndrome 3 [RCV000341677] Chr3:149172835 [GRCh38]
Chr3:148890622 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000337460] Chr3:149150643 [GRCh38]
Chr3:148868430 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*96T>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000337867] Chr3:149172318 [GRCh38]
Chr3:148890105 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*1081T>A single nucleotide variant Deficiency of ferroxidase [RCV000289811]|Hermansky-Pudlak syndrome 3 [RCV000347124] Chr3:149172633 [GRCh38]
Chr3:148890420 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.-70T>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000340684]|not provided [RCV001571449] Chr3:149129654 [GRCh38]
Chr3:148847441 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.1152C>T (p.His384=) single nucleotide variant HPS3-related disorder [RCV004745348]|Hermansky-Pudlak syndrome 3 [RCV000341595]|Hermansky-Pudlak syndrome [RCV001828340]|not provided [RCV000917358]|not specified [RCV000608389] Chr3:149145535 [GRCh38]
Chr3:148863322 [GRCh37]
Chr3:3q24		 benign|likely benign|uncertain significance
NM_000096.4(CP):c.*373C>G single nucleotide variant Deficiency of ferroxidase [RCV000383962]|Hermansky-Pudlak syndrome 3 [RCV000292012] Chr3:149173341 [GRCh38]
Chr3:148891128 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000362813]|Hermansky-Pudlak syndrome [RCV001279653] Chr3:149158742 [GRCh38]
Chr3:148876529 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*1157C>T single nucleotide variant Deficiency of ferroxidase [RCV000344158]|Hermansky-Pudlak syndrome 3 [RCV000382361]|not provided [RCV004710935] Chr3:149172557 [GRCh38]
Chr3:148890344 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) single nucleotide variant HPS3-related disorder [RCV003912451]|Hermansky-Pudlak syndrome 3 [RCV000366477]|not provided [RCV000901405] Chr3:149162165 [GRCh38]
Chr3:148879952 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.*97CA[20] microsatellite Hermansky-Pudlak syndrome [RCV000294307]|not provided [RCV001712078] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24		 benign|uncertain significance
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) deletion Hermansky-Pudlak syndrome [RCV000311721] Chr3:149153627..149153629 [GRCh38]
Chr3:148871414..148871416 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000392951]|Hermansky-Pudlak syndrome [RCV001833467]|Inborn genetic diseases [RCV004629196]|not provided [RCV001372061] Chr3:149129919 [GRCh38]
Chr3:148847706 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.-43C>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000392958]|not provided [RCV004694712] Chr3:149129681 [GRCh38]
Chr3:148847468 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.4(HPS3):c.*668dupT duplication Hermansky-Pudlak syndrome [RCV000297153] Chr3:149172890 [GRCh38]
Chr3:148890677 [GRCh37]
Chr3:3q24		 benign
NM_000096.4(CP):c.*572A>G single nucleotide variant Deficiency of ferroxidase [RCV001144325]|Hermansky-Pudlak syndrome 3 [RCV000370870] Chr3:149173142 [GRCh38]
Chr3:148890929 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*170C>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000331125]|not provided [RCV002285319] Chr3:149172392 [GRCh38]
Chr3:148890179 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000372632] Chr3:149167143 [GRCh38]
Chr3:148884930 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*96TC[3] microsatellite Hermansky-Pudlak syndrome [RCV000265714] Chr3:149172317..149172318 [GRCh38]
Chr3:148890104..148890105 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*97CA[16] microsatellite Hermansky-Pudlak syndrome [RCV000259946] Chr3:149172319..149172324 [GRCh38]
Chr3:148890106..148890111 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.884+24_884+25dup duplication Hermansky-Pudlak syndrome [RCV000277399]|not provided [RCV001513420] Chr3:149141200..149141201 [GRCh38]
Chr3:148858987..148858988 [GRCh37]
Chr3:3q24		 benign|uncertain significance
NM_032383.4(HPS3):c.-108C>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000283359] Chr3:149129616 [GRCh38]
Chr3:148847403 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*97_*98insTCTCACAC insertion Hermansky-Pudlak syndrome [RCV000304533] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*97CA[23] microsatellite Hermansky-Pudlak syndrome [RCV000307149]|not provided [RCV001712079] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24		 benign|uncertain significance
NM_032383.5(HPS3):c.*97_*98insTCACACAC insertion Hermansky-Pudlak syndrome [RCV000310590]|not provided [RCV001712080] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24		 benign|uncertain significance
NM_032383.5(HPS3):c.884+22_884+25dup duplication Hermansky-Pudlak syndrome [RCV000324944]|not provided [RCV001519566] Chr3:149141200..149141201 [GRCh38]
Chr3:148858987..148858988 [GRCh37]
Chr3:3q24		 benign|uncertain significance
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) single nucleotide variant Hermansky-Pudlak syndrome [RCV000273852] Chr3:149141020 [GRCh38]
Chr3:148858807 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*97CA[25] microsatellite Hermansky-Pudlak syndrome [RCV000345566] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*97CA[21] microsatellite Hermansky-Pudlak syndrome [RCV000351520]|not provided [RCV001653661] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24		 benign|uncertain significance
NM_000096.4(CP):c.*583T>C single nucleotide variant Deficiency of ferroxidase [RCV000275343]|Hermansky-Pudlak syndrome 3 [RCV001144324]|Hermansky-Pudlak syndrome [RCV000332532] Chr3:149173131 [GRCh38]
Chr3:148890918 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*97_*98insTCACACACAC insertion Hermansky-Pudlak syndrome [RCV000358312] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.884+21_884+25dup duplication Hermansky-Pudlak syndrome [RCV000381864]|not provided [RCV001513063] Chr3:149141200..149141201 [GRCh38]
Chr3:148858987..148858988 [GRCh37]
Chr3:3q24		 benign|uncertain significance
NM_032383.5(HPS3):c.*96_*97insATCACA insertion Hermansky-Pudlak syndrome [RCV000385414] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*97_*98insTCACAC insertion Hermansky-Pudlak syndrome [RCV000391185] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*97CA[22] microsatellite Hermansky-Pudlak syndrome [RCV000398719]|not provided [RCV001584051] Chr3:149172318..149172319 [GRCh38]
Chr3:148890105..148890106 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_000096.4(CP):c.*828dup duplication Deficiency of ferroxidase [RCV000399438]|Hermansky-Pudlak syndrome [RCV000297153] Chr3:149172885..149172886 [GRCh38]
Chr3:148890672..148890673 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000280033]|Inborn genetic diseases [RCV004629197] Chr3:149150631 [GRCh38]
Chr3:148868418 [GRCh37]
Chr3:3q24		 uncertain significance
NC_000003.11:g.(?_148890285)_(148939833_?)del deletion Neurodegeneration with brain iron accumulation [RCV002282965] Chr3:148890285..148939833 [GRCh37]
Chr3:3q24-25.1		 likely pathogenic
NM_032383.5(HPS3):c.1951A>G (p.Met651Val) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279654]|not provided [RCV001871573] Chr3:149160124 [GRCh38]
Chr3:148877911 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2887+81G>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001543872]|not provided [RCV001694067] Chr3:149168064 [GRCh38]
Chr3:148885851 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2370C>G (p.Leu790=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279655]|not provided [RCV002069467] Chr3:149162767 [GRCh38]
Chr3:148880554 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.*97CA[17] microsatellite Hermansky-Pudlak syndrome [RCV000361606] Chr3:149172319..149172322 [GRCh38]
Chr3:148890106..148890109 [GRCh37]
Chr3:3q24		 uncertain significance
NG_011800.2:g.59053dupA duplication Deficiency of ferroxidase [RCV000325027] Chr3:149167993 [GRCh38]
Chr3:148885780 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.*129_*130insGC insertion Hermansky-Pudlak syndrome [RCV000318321] Chr3:149172350..149172351 [GRCh38]
Chr3:148890137..148890138 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*239G>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000296110] Chr3:149172461 [GRCh38]
Chr3:148890248 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*343A>G single nucleotide variant Deficiency of ferroxidase [RCV000321137]|Hermansky-Pudlak syndrome 3 [RCV000378160] Chr3:149173371 [GRCh38]
Chr3:148891158 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.884+11_884+12insT insertion Hermansky-Pudlak syndrome [RCV000369550] Chr3:149141199..149141200 [GRCh38]
Chr3:148858986..148858987 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*128A>G single nucleotide variant Deficiency of ferroxidase [RCV000381911]|Hermansky-Pudlak syndrome 3 [RCV000375265]|not provided [RCV001683370] Chr3:149172350 [GRCh38]
Chr3:148890137 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.2224G>A (p.Val742Met) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000322494] Chr3:149162265 [GRCh38]
Chr3:148880052 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*137C>T single nucleotide variant Deficiency of ferroxidase [RCV000286206]|Hermansky-Pudlak syndrome [RCV000328470]|not provided [RCV001576471] Chr3:149173577 [GRCh38]
Chr3:148891364 [GRCh37]
Chr3:3q24		 likely benign
NM_000096.4(CP):c.2991T>C (p.His997=) single nucleotide variant Deficiency of ferroxidase [RCV000280356]|Hermansky-Pudlak syndrome [RCV000284071]|not provided [RCV001657707]|not specified [RCV000116821] Chr3:149177867 [GRCh38]
Chr3:148895654 [GRCh37]
Chr3:3q24		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000096.4(CP):c.3182-4A>G single nucleotide variant Deficiency of ferroxidase [RCV000343452]|Hermansky-Pudlak syndrome [RCV000376274]|not provided [RCV001560095]|not specified [RCV000116822] Chr3:149173734 [GRCh38]
Chr3:148891521 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.*172G>A single nucleotide variant Deficiency of ferroxidase [RCV000289809]|Hermansky-Pudlak syndrome 3 [RCV000388146]|not provided [RCV001707667] Chr3:149172394 [GRCh38]
Chr3:148890181 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.884+25del deletion Hermansky-Pudlak syndrome [RCV000289873]|not provided [RCV001513341]|not specified [RCV001699380] Chr3:149141201 [GRCh38]
Chr3:148858988 [GRCh37]
Chr3:3q24		 benign|likely benign
NC_000003.12:g.(?_149129714)_(149129950_?)del deletion not provided [RCV000817930] Chr3:149129714..149129950 [GRCh38]
Chr3:148847501..148847737 [GRCh37]
Chr3:3q24		 pathogenic
GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1 copy number loss See cases [RCV000447056] Chr3:148425748..153220169 [GRCh37]
Chr3:3q24-25.2		 pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2		 pathogenic
NM_032383.5(HPS3):c.124G>C (p.Glu42Gln) single nucleotide variant not specified [RCV000502428] Chr3:149129847 [GRCh38]
Chr3:148847634 [GRCh37]
Chr3:3q24		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_032383.5(HPS3):c.190G>T (p.Val64Leu) single nucleotide variant Inborn genetic diseases [RCV003258004] Chr3:149129913 [GRCh38]
Chr3:148847700 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2256C>T (p.Asn752=) single nucleotide variant not provided [RCV003825548] Chr3:149162297 [GRCh38]
Chr3:148880084 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.89_114del (p.Arg30fs) deletion Hermansky-Pudlak syndrome 3 [RCV000672579]|not provided [RCV001058293] Chr3:149129808..149129833 [GRCh38]
Chr3:148847595..148847620 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003465684]|Hermansky-Pudlak syndrome [RCV000851268] Chr3:149155215 [GRCh38]
Chr3:148873002 [GRCh37]
Chr3:3q24		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_032383.5(HPS3):c.486G>A (p.Lys162=) single nucleotide variant not provided [RCV000976546] Chr3:149140272 [GRCh38]
Chr3:148858059 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2796+207_2796+209del microsatellite not provided [RCV001643488] Chr3:149167442..149167444 [GRCh38]
Chr3:148885229..148885231 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2292+111_2292+112del deletion not provided [RCV001679742] Chr3:149162443..149162444 [GRCh38]
Chr3:148880230..148880231 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1245+112T>C single nucleotide variant not provided [RCV001541642] Chr3:149150792 [GRCh38]
Chr3:148868579 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1245+231C>G single nucleotide variant not provided [RCV001648428] Chr3:149150911 [GRCh38]
Chr3:148868698 [GRCh37]
Chr3:3q24		 benign
NC_000003.12:g.149129436G>A single nucleotide variant not provided [RCV001680099] Chr3:149129436 [GRCh38]
Chr3:148847223 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2106+177A>G single nucleotide variant not provided [RCV001668705] Chr3:149160456 [GRCh38]
Chr3:148878243 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2888-55A>T single nucleotide variant not provided [RCV001534163] Chr3:149172040 [GRCh38]
Chr3:148889827 [GRCh37]
Chr3:3q24		 benign
NC_000003.12:g.149129418C>T single nucleotide variant not provided [RCV001585215] Chr3:149129418 [GRCh38]
Chr3:148847205 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+279G>A single nucleotide variant not provided [RCV001666952] Chr3:149141659 [GRCh38]
Chr3:148859446 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1164-139A>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001543866]|not provided [RCV001685476] Chr3:149150460 [GRCh38]
Chr3:148868247 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2107-52A>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001543870]|not provided [RCV001615269] Chr3:149162096 [GRCh38]
Chr3:148879883 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.218-808_719del deletion not provided [RCV001038157] Chr3:149139194..149141021 [GRCh38]
Chr3:148856981..148858808 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn) single nucleotide variant Deficiency of ferroxidase [RCV001149017] Chr3:149173727 [GRCh38]
Chr3:148891514 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.970+164T>G single nucleotide variant not provided [RCV001576126] Chr3:149141544 [GRCh38]
Chr3:148859331 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1330C>A (p.His444Asn) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001145986]|not provided [RCV002559410] Chr3:149153578 [GRCh38]
Chr3:148871365 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1224G>A (p.Pro408=) single nucleotide variant HPS3-related disorder [RCV003895630]|Hermansky-Pudlak syndrome [RCV001275838]|not provided [RCV000925621] Chr3:149150659 [GRCh38]
Chr3:148868446 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.218-9C>T single nucleotide variant not provided [RCV000983740] Chr3:149139995 [GRCh38]
Chr3:148857782 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970G>A (p.Gly324Ser) single nucleotide variant Hermansky-Pudlak syndrome [RCV001275837]|not provided [RCV000944679] Chr3:149141380 [GRCh38]
Chr3:148859167 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.1872+7A>G single nucleotide variant not provided [RCV000899545] Chr3:149158853 [GRCh38]
Chr3:148876640 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.405C>T (p.Ala135=) single nucleotide variant not provided [RCV000928562] Chr3:149140191 [GRCh38]
Chr3:148857978 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2016A>G (p.Ser672=) single nucleotide variant not provided [RCV000976203] Chr3:149160189 [GRCh38]
Chr3:148877976 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.10C>T (p.Leu4=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001145876]|not provided [RCV000981940] Chr3:149129733 [GRCh38]
Chr3:148847520 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.199C>T (p.Leu67=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001275834]|not provided [RCV000944455] Chr3:149129922 [GRCh38]
Chr3:148847709 [GRCh37]
Chr3:3q24		 benign|uncertain significance
NM_032383.5(HPS3):c.1769G>A (p.Arg590His) single nucleotide variant Hermansky-Pudlak syndrome [RCV001275844]|Inborn genetic diseases [RCV002548363]|not provided [RCV000972103] Chr3:149158743 [GRCh38]
Chr3:148876530 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) single nucleotide variant HPS3-related disorder [RCV003950602]|Hermansky-Pudlak syndrome 3 [RCV001254016]|Hermansky-Pudlak syndrome [RCV001275848]|not provided [RCV000903117] Chr3:149162866 [GRCh38]
Chr3:148880653 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.1125G>A (p.Gln375=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001144088]|not provided [RCV000927860] Chr3:149145508 [GRCh38]
Chr3:148863295 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV000824870]|not provided [RCV002536036] Chr3:149158772 [GRCh38]
Chr3:148876559 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.957C>G (p.Pro319=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279650]|not provided [RCV000978176] Chr3:149141367 [GRCh38]
Chr3:148859154 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1163+10G>A single nucleotide variant not provided [RCV000919375] Chr3:149145556 [GRCh38]
Chr3:148863343 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1692-6C>T single nucleotide variant not provided [RCV000930772] Chr3:149158660 [GRCh38]
Chr3:148876447 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1785A>G (p.Val595=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001148768]|not provided [RCV000939962] Chr3:149158759 [GRCh38]
Chr3:148876546 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.1404G>A (p.Ser468=) single nucleotide variant not provided [RCV000979458] Chr3:149155110 [GRCh38]
Chr3:148872897 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1725A>G (p.Pro575=) single nucleotide variant not provided [RCV000982257] Chr3:149158699 [GRCh38]
Chr3:148876486 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1342T>C (p.Leu448=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001275840]|not provided [RCV000976198] Chr3:149153590 [GRCh38]
Chr3:148871377 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.2634G>A (p.Pro878=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001827047]|not provided [RCV000962059] Chr3:149167078 [GRCh38]
Chr3:148884865 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2181C>T (p.Thr727=) single nucleotide variant HPS3-related disorder [RCV004746161]|Hermansky-Pudlak syndrome [RCV001275845]|not provided [RCV000925645] Chr3:149162222 [GRCh38]
Chr3:148880009 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1872+7A>T single nucleotide variant not provided [RCV000909803] Chr3:149158853 [GRCh38]
Chr3:148876640 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) single nucleotide variant HPS3-related disorder [RCV003923241]|Hermansky-Pudlak syndrome 3 [RCV001148767]|Hermansky-Pudlak syndrome [RCV001825843]|not provided [RCV000916680] Chr3:149158747 [GRCh38]
Chr3:148876534 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.2479C>T (p.Leu827=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279657]|not provided [RCV000941187] Chr3:149162876 [GRCh38]
Chr3:148880663 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) single nucleotide variant HPS3-related disorder [RCV003975685]|Hermansky-Pudlak syndrome 3 [RCV001254015]|Hermansky-Pudlak syndrome [RCV001275847]|not provided [RCV000897174] Chr3:149162775 [GRCh38]
Chr3:148880562 [GRCh37]
Chr3:3q24		 benign|likely benign|uncertain significance
NM_032383.5(HPS3):c.2163G>A (p.Lys721=) single nucleotide variant not provided [RCV000977807] Chr3:149162204 [GRCh38]
Chr3:148879991 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003465685]|Hermansky-Pudlak syndrome [RCV000852039]|not provided [RCV001855733] Chr3:149129738 [GRCh38]
Chr3:148847525 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.906G>A (p.Ser302=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001275836]|not provided [RCV000977063] Chr3:149141316 [GRCh38]
Chr3:148859103 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002495161]|Hermansky-Pudlak syndrome [RCV001272477]|not provided [RCV000817323] Chr3:149158812 [GRCh38]
Chr3:148876599 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1861G>T (p.Glu621Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003472386]|not provided [RCV000806167] Chr3:149158835 [GRCh38]
Chr3:148876622 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) deletion Hermansky-Pudlak syndrome 3 [RCV001095689]|not provided [RCV000820215] Chr3:149157521..149157522 [GRCh38]
Chr3:148875308..148875309 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) deletion HPS3-related disorder [RCV003392626]|Hermansky-Pudlak syndrome 3 [RCV003473517]|Hermansky-Pudlak syndrome [RCV001830815]|not provided [RCV000822239] Chr3:149141154..149141155 [GRCh38]
Chr3:148858941..148858942 [GRCh37]
Chr3:3q24		 pathogenic
GRCh37/hg19 3q24-25.1(chr3:148855964-149227161)x3 copy number gain not provided [RCV000848620] Chr3:148855964..149227161 [GRCh37]
Chr3:3q24-25.1		 uncertain significance
NM_032383.5(HPS3):c.403del (p.Ala135fs) deletion Hermansky-Pudlak syndrome 3 [RCV003467433]|not provided [RCV000809431] Chr3:149140188 [GRCh38]
Chr3:148857975 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001150236]|Hermansky-Pudlak syndrome [RCV001828571]|not provided [RCV001412339] Chr3:149141023 [GRCh38]
Chr3:148858810 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.963C>T (p.Tyr321=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001150238] Chr3:149141373 [GRCh38]
Chr3:148859160 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001148661]|not provided [RCV002557187]|not specified [RCV004702654] Chr3:149140178 [GRCh38]
Chr3:148857965 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.592G>A (p.Val198Ile) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001148664]|Inborn genetic diseases [RCV004032765]|not provided [RCV002032378] Chr3:149140378 [GRCh38]
Chr3:148858165 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001148769]|Inborn genetic diseases [RCV002557193]|not provided [RCV001858975] Chr3:149158761 [GRCh38]
Chr3:148876548 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*98A>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001146093]|not provided [RCV004694904] Chr3:149172320 [GRCh38]
Chr3:148890107 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*40C>T single nucleotide variant Deficiency of ferroxidase [RCV001149016] Chr3:149173674 [GRCh38]
Chr3:148891461 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.677A>G (p.His226Arg) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001150233]|not provided [RCV002557234] Chr3:149140463 [GRCh38]
Chr3:148858250 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.-50C>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001145875] Chr3:149129674 [GRCh38]
Chr3:148847461 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.651T>C (p.Asn217=) single nucleotide variant not provided [RCV000941894] Chr3:149140437 [GRCh38]
Chr3:148858224 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.447C>T (p.Leu149=) single nucleotide variant not provided [RCV000943035] Chr3:149140233 [GRCh38]
Chr3:148858020 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.713-4T>C single nucleotide variant not provided [RCV000981502] Chr3:149141013 [GRCh38]
Chr3:148858800 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001832078]|not provided [RCV000918715] Chr3:149162761 [GRCh38]
Chr3:148880548 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.323T>C (p.Met108Thr) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001148659] Chr3:149140109 [GRCh38]
Chr3:148857896 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.338T>G (p.Val113Gly) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001148660]|Inborn genetic diseases [RCV003346338]|not provided [RCV002557186] Chr3:149140124 [GRCh38]
Chr3:148857911 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*138A>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001146094] Chr3:149172360 [GRCh38]
Chr3:148890147 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*373C>T single nucleotide variant Deficiency of ferroxidase [RCV001146220]|Hermansky-Pudlak syndrome 3 [RCV001146221] Chr3:149173341 [GRCh38]
Chr3:148891128 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*259C>T single nucleotide variant Deficiency of ferroxidase [RCV001146222]|Hermansky-Pudlak syndrome 3 [RCV001149015] Chr3:149173455 [GRCh38]
Chr3:148891242 [GRCh37]
Chr3:3q24		 likely benign
GRCh37/hg19 3q24-25.1(chr3:148855964-149130487)x1 copy number loss not provided [RCV000848485] Chr3:148855964..149130487 [GRCh37]
Chr3:3q24-25.1		 uncertain significance
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) duplication Hermansky-Pudlak syndrome [RCV000851759]|not provided [RCV003679019] Chr3:149167904..149167905 [GRCh38]
Chr3:148885691..148885692 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter) single nucleotide variant Hermansky-Pudlak syndrome [RCV000851675] Chr3:149129847 [GRCh38]
Chr3:148847634 [GRCh37]
Chr3:3q24		 likely pathogenic
NC_000003.12:g.(?_149129724)_(149129940_?)del deletion not provided [RCV001032453] Chr3:148847511..148847727 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1030del (p.Cys344fs) deletion not provided [RCV001228715] Chr3:149145410 [GRCh38]
Chr3:148863197 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1385C>A (p.Ser462Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003467820]|not provided [RCV001063606] Chr3:149153633 [GRCh38]
Chr3:148871420 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.2589+1G>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469437]|Hermansky-Pudlak syndrome [RCV001834054]|not provided [RCV001236486] Chr3:149163950 [GRCh38]
Chr3:148881737 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) microsatellite Hermansky-Pudlak syndrome 3 [RCV002504284]|not provided [RCV001222745] Chr3:149140439..149140440 [GRCh38]
Chr3:148858226..148858227 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1246-2A>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469443]|not provided [RCV001237502] Chr3:149153492 [GRCh38]
Chr3:148871279 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) duplication Hermansky-Pudlak syndrome 3 [RCV003465686]|Hermansky-Pudlak syndrome [RCV000852087]|not provided [RCV002536613] Chr3:149162859..149162860 [GRCh38]
Chr3:148880646..148880647 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.694A>G (p.Ile232Val) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001150234]|Hermansky-Pudlak syndrome [RCV001828570]|not provided [RCV001314679] Chr3:149140480 [GRCh38]
Chr3:148858267 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*536G>C single nucleotide variant Deficiency of ferroxidase [RCV001144326]|Hermansky-Pudlak syndrome 3 [RCV001144327] Chr3:149173178 [GRCh38]
Chr3:148890965 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003473834]|not provided [RCV001247663] Chr3:149162868 [GRCh38]
Chr3:148880655 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1509+5T>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001148766]|not provided [RCV002557192] Chr3:149155220 [GRCh38]
Chr3:148873007 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001148770]|Inborn genetic diseases [RCV003163330]|not provided [RCV002032380] Chr3:149158781 [GRCh38]
Chr3:148876568 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1200G>C (p.Ala400=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001145984]|not provided [RCV001477397] Chr3:149150635 [GRCh38]
Chr3:148868422 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.*207C>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001146095] Chr3:149172429 [GRCh38]
Chr3:148890216 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*474T>C single nucleotide variant Deficiency of ferroxidase [RCV001144328]|Hermansky-Pudlak syndrome 3 [RCV001146219]|not provided [RCV002245864] Chr3:149173240 [GRCh38]
Chr3:148891027 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.2887+247A>G single nucleotide variant not provided [RCV001546600] Chr3:149168230 [GRCh38]
Chr3:148886017 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.713-242A>C single nucleotide variant not provided [RCV001679068] Chr3:149140775 [GRCh38]
Chr3:148858562 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1401-103T>A single nucleotide variant not provided [RCV001534214] Chr3:149155004 [GRCh38]
Chr3:148872791 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+240C>A single nucleotide variant not provided [RCV001671611] Chr3:149130180 [GRCh38]
Chr3:148847967 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1164-107G>A single nucleotide variant not provided [RCV001593785] Chr3:149150492 [GRCh38]
Chr3:148868279 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.*97CA[18] microsatellite not provided [RCV001710103] Chr3:149172319..149172320 [GRCh38]
Chr3:148890106..148890107 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2292+39C>T single nucleotide variant not provided [RCV001571584] Chr3:149162372 [GRCh38]
Chr3:148880159 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+159T>G single nucleotide variant not provided [RCV001548346] Chr3:149141539 [GRCh38]
Chr3:148859326 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1163+62T>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001543865]|not provided [RCV001655848] Chr3:149145608 [GRCh38]
Chr3:148863395 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2482-29T>G single nucleotide variant not provided [RCV001710520] Chr3:149163813 [GRCh38]
Chr3:148881600 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2796+39G>A single nucleotide variant not provided [RCV001686478] Chr3:149167279 [GRCh38]
Chr3:148885066 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1246-157C>T single nucleotide variant not provided [RCV001621044] Chr3:149153337 [GRCh38]
Chr3:148871124 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu) single nucleotide variant HPS3-related disorder [RCV003978128]|Hermansky-Pudlak syndrome 3 [RCV001145987]|Hermansky-Pudlak syndrome [RCV001275842]|not provided [RCV000944386] Chr3:149155109 [GRCh38]
Chr3:148872896 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.801G>A (p.Gln267=) single nucleotide variant not provided [RCV000943063] Chr3:149141105 [GRCh38]
Chr3:148858892 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1500C>T (p.Tyr500=) single nucleotide variant not provided [RCV000931617] Chr3:149155206 [GRCh38]
Chr3:148872993 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+19_970+34dup duplication not provided [RCV000931624] Chr3:149141388..149141389 [GRCh38]
Chr3:148859175..148859176 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2667C>T (p.Ala889=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001275849]|not provided [RCV000931745] Chr3:149167111 [GRCh38]
Chr3:148884898 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.135G>C (p.Ala45=) single nucleotide variant not provided [RCV000928307] Chr3:149129858 [GRCh38]
Chr3:148847645 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2598A>C (p.Ile866=) single nucleotide variant not provided [RCV000980350] Chr3:149167042 [GRCh38]
Chr3:148884829 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2196C>T (p.His732=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001254014]|Hermansky-Pudlak syndrome [RCV001273476]|not provided [RCV000942123] Chr3:149162237 [GRCh38]
Chr3:148880024 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1758A>G (p.Glu586=) single nucleotide variant not provided [RCV000978171] Chr3:149158732 [GRCh38]
Chr3:148876519 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2916A>G (p.Leu972=) single nucleotide variant not provided [RCV000976225] Chr3:149172123 [GRCh38]
Chr3:148889910 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1401-4T>C single nucleotide variant not provided [RCV000981243] Chr3:149155103 [GRCh38]
Chr3:148872890 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.312G>A (p.Val104=) single nucleotide variant not provided [RCV000981297] Chr3:149140098 [GRCh38]
Chr3:148857885 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2887+19del deletion not provided [RCV000954901] Chr3:149167993 [GRCh38]
Chr3:148885780 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001145985]|Hermansky-Pudlak syndrome [RCV001275839]|not provided [RCV000940511] Chr3:149150663 [GRCh38]
Chr3:148868450 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2316T>C (p.Asp772=) single nucleotide variant not provided [RCV000982008] Chr3:149162713 [GRCh38]
Chr3:148880500 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1455dup (p.Trp486fs) duplication not provided [RCV001222744] Chr3:149155158..149155159 [GRCh38]
Chr3:148872945..148872946 [GRCh37]
Chr3:3q24		 pathogenic
NC_000003.12:g.(?_149141285)_(149141390_?)dup duplication not provided [RCV001032952] Chr3:148859072..148859177 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001148663] Chr3:149140286 [GRCh38]
Chr3:148858073 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.218-2A>G single nucleotide variant not provided [RCV001057362] Chr3:149140002 [GRCh38]
Chr3:148857789 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1101C>G (p.Tyr367Ter) single nucleotide variant not provided [RCV001058880] Chr3:149145484 [GRCh38]
Chr3:148863271 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001196934]|Hermansky-Pudlak syndrome [RCV001828612]|not provided [RCV001381018] Chr3:149162861 [GRCh38]
Chr3:148880648 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2887+8G>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001144198] Chr3:149167991 [GRCh38]
Chr3:148885778 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001144197]|Hermansky-Pudlak syndrome [RCV001273478]|not provided [RCV000934277] Chr3:149163887 [GRCh38]
Chr3:148881674 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.970+151G>T single nucleotide variant not provided [RCV001551798] Chr3:149141531 [GRCh38]
Chr3:148859318 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1246-215A>G single nucleotide variant not provided [RCV001682133] Chr3:149153279 [GRCh38]
Chr3:148871066 [GRCh37]
Chr3:3q24		 benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_032383.5(HPS3):c.1873-153T>C single nucleotide variant not provided [RCV001636477] Chr3:149159893 [GRCh38]
Chr3:148877680 [GRCh37]
Chr3:3q24		 benign
NC_000003.12:g.(?_149139994)_(149172232_?)del deletion not provided [RCV001032435] Chr3:148857781..148890019 [GRCh37]
Chr3:3q24		 likely pathogenic
GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1 copy number loss not provided [RCV001005476] Chr3:144053029..150272658 [GRCh37]
Chr3:3q24-25.1		 likely pathogenic
NM_032383.5(HPS3):c.2888-241G>A single nucleotide variant not provided [RCV001608768] Chr3:149171854 [GRCh38]
Chr3:148889641 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1164-91del deletion not provided [RCV001639356] Chr3:149150506 [GRCh38]
Chr3:148868293 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.970+162T>G single nucleotide variant not provided [RCV001619389] Chr3:149141542 [GRCh38]
Chr3:148859329 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.970+150dup duplication not provided [RCV001714697] Chr3:149141519..149141520 [GRCh38]
Chr3:148859306..148859307 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1163+258A>C single nucleotide variant not provided [RCV001715420] Chr3:149145804 [GRCh38]
Chr3:148863591 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1400+41G>A single nucleotide variant not provided [RCV001677466] Chr3:149153689 [GRCh38]
Chr3:148871476 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.971-43T>C single nucleotide variant not provided [RCV001649884] Chr3:149145311 [GRCh38]
Chr3:148863098 [GRCh37]
Chr3:3q24		 benign
NC_000003.12:g.149129521G>C single nucleotide variant not provided [RCV001620597] Chr3:149129521 [GRCh38]
Chr3:148847308 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.700C>T (p.Arg234Trp) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001150235]|not provided [RCV002032389] Chr3:149140486 [GRCh38]
Chr3:148858273 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1164-225C>G single nucleotide variant not provided [RCV001647810] Chr3:149150374 [GRCh38]
Chr3:148868161 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.218-77A>C single nucleotide variant not provided [RCV001616742] Chr3:149139927 [GRCh38]
Chr3:149139927..149139928 [GRCh38]
Chr3:148857714 [GRCh37]
Chr3:148857714..148857715 [GRCh37]
Chr3:3q24		 benign
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) single nucleotide variant Hermansky-Pudlak syndrome 2 [RCV001003902]|Hermansky-Pudlak syndrome 3 [RCV003467565]|Hermansky-Pudlak syndrome [RCV001827166]|not provided [RCV001225137] Chr3:149158844 [GRCh38]
Chr3:148876631 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.971-285C>A single nucleotide variant not provided [RCV001681952] Chr3:149145069 [GRCh38]
Chr3:148862856 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1692-192T>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001543868]|not provided [RCV001595102] Chr3:149158474 [GRCh38]
Chr3:148876261 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2107-57A>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001543869]|not provided [RCV001685477] Chr3:149162091 [GRCh38]
Chr3:148879878 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1163+251A>G single nucleotide variant not provided [RCV001713518] Chr3:149145797 [GRCh38]
Chr3:148863584 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1164-192A>G single nucleotide variant not provided [RCV001671629] Chr3:149150407 [GRCh38]
Chr3:148868194 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.217+207G>T single nucleotide variant not provided [RCV001695074] Chr3:149130147 [GRCh38]
Chr3:148847934 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469414]|not provided [RCV001231243] Chr3:149157428 [GRCh38]
Chr3:148875215 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.938A>G (p.His313Arg) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001150237] Chr3:149141348 [GRCh38]
Chr3:148859135 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.632T>C (p.Leu211Pro) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001150232] Chr3:149140418 [GRCh38]
Chr3:148858205 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1746G>T (p.Leu582Phe) single nucleotide variant not provided [RCV001963878] Chr3:149158720 [GRCh38]
Chr3:148876507 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001144087]|Hermansky-Pudlak syndrome [RCV001279651]|not provided [RCV002557069] Chr3:149145441 [GRCh38]
Chr3:148863228 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) deletion Hermansky-Pudlak syndrome 3 [RCV002504306]|Hermansky-Pudlak syndrome [RCV001828839]|not provided [RCV001229791] Chr3:149162248..149162249 [GRCh38]
Chr3:148880035..148880036 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.132C>A (p.Phe44Leu) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001145877]|not provided [RCV001858957] Chr3:149129855 [GRCh38]
Chr3:148847642 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.398C>T (p.Ser133Leu) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001148662]|not provided [RCV002557188] Chr3:149140184 [GRCh38]
Chr3:148857971 [GRCh37]
Chr3:3q24		 uncertain significance
NM_000096.4(CP):c.*1007T>A single nucleotide variant Deficiency of ferroxidase [RCV001148884]|Hermansky-Pudlak syndrome 3 [RCV001148885] Chr3:149172707 [GRCh38]
Chr3:148890494 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001144199]|Inborn genetic diseases [RCV002559389]|not provided [RCV002557077] Chr3:149172143 [GRCh38]
Chr3:148889930 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.*95A>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001144200] Chr3:149172317 [GRCh38]
Chr3:148890104 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2078A>G (p.His693Arg) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001254013]|not provided [RCV002568736] Chr3:149160251 [GRCh38]
Chr3:148878038 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.305C>A (p.Ser102Tyr) single nucleotide variant Hermansky-Pudlak syndrome [RCV001835388]|not provided [RCV001295162] Chr3:149140091 [GRCh38]
Chr3:148857878 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2736del (p.Glu913fs) deletion not provided [RCV001268790] Chr3:149167180 [GRCh38]
Chr3:148884967 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.864C>T (p.His288=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279648]|not provided [RCV003679057] Chr3:149141168 [GRCh38]
Chr3:148858955 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.2932A>G (p.Met978Val) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279659] Chr3:149172139 [GRCh38]
Chr3:148889926 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.970+171_970+172del deletion not provided [RCV001641731] Chr3:149141532..149141533 [GRCh38]
Chr3:148859319..148859320 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.114C>T (p.Gly38=) single nucleotide variant not provided [RCV001414977] Chr3:149129837 [GRCh38]
Chr3:148847624 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.202_203insTGTTA (p.Ala68fs) insertion not provided [RCV001383087] Chr3:149129925..149129926 [GRCh38]
Chr3:148847712..148847713 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1323T>C (p.Phe441=) single nucleotide variant not provided [RCV001414437] Chr3:149153571 [GRCh38]
Chr3:148871358 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1131A>T (p.Val377=) single nucleotide variant not provided [RCV001396992] Chr3:149145514 [GRCh38]
Chr3:148863301 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.687C>A (p.Asn229Lys) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279646] Chr3:149140473 [GRCh38]
Chr3:148858260 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.159G>T (p.Gln53His) single nucleotide variant HPS3-related disorder [RCV004746340]|Hermansky-Pudlak syndrome 3 [RCV002493818]|not provided [RCV001355166] Chr3:149129882 [GRCh38]
Chr3:148847669 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.905C>T (p.Ser302Leu) single nucleotide variant Hermansky-Pudlak syndrome [RCV001826077]|not provided [RCV001369333] Chr3:149141315 [GRCh38]
Chr3:148859102 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1686C>A (p.Tyr562Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469685]|not provided [RCV001382963] Chr3:149157526 [GRCh38]
Chr3:148875313 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.2529C>T (p.Val843=) single nucleotide variant not provided [RCV001433650] Chr3:149163889 [GRCh38]
Chr3:148881676 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2565T>C (p.Tyr855=) single nucleotide variant not provided [RCV001422667] Chr3:149163925 [GRCh38]
Chr3:148881712 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1233C>T (p.Asp411=) single nucleotide variant not provided [RCV001433315] Chr3:149150668 [GRCh38]
Chr3:148868455 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.479G>A (p.Ser160Asn) single nucleotide variant Abnormal bleeding [RCV001270521] Chr3:149140265 [GRCh38]
Chr3:148858052 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1128A>G (p.Ala376=) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279652]|not provided [RCV001425908] Chr3:149145511 [GRCh38]
Chr3:148863298 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279656] Chr3:149162856 [GRCh38]
Chr3:148880643 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2524C>T (p.His842Tyr) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279658]|Inborn genetic diseases [RCV004035494]|not provided [RCV002541715] Chr3:149163884 [GRCh38]
Chr3:148881671 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2830T>G (p.Cys944Gly) single nucleotide variant not provided [RCV001355994] Chr3:149167926 [GRCh38]
Chr3:148885713 [GRCh37]
Chr3:3q24		 uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
NM_032383.5(HPS3):c.2018C>T (p.Ser673Leu) single nucleotide variant Hermansky-Pudlak syndrome [RCV001831298]|Inborn genetic diseases [RCV002550117]|not provided [RCV001370938] Chr3:149160191 [GRCh38]
Chr3:148877978 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1440T>C (p.Pro480=) single nucleotide variant not provided [RCV001395912] Chr3:149155146 [GRCh38]
Chr3:148872933 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+5G>T single nucleotide variant not provided [RCV001340316] Chr3:149141385 [GRCh38]
Chr3:148859172 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.885-4A>G single nucleotide variant not provided [RCV001394671] Chr3:149141291 [GRCh38]
Chr3:148859078 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1164-6C>T single nucleotide variant not provided [RCV001412602] Chr3:149150593 [GRCh38]
Chr3:148868380 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.701G>A (p.Arg234Gln) single nucleotide variant Hermansky-Pudlak syndrome [RCV001279647]|not provided [RCV002537858] Chr3:149140487 [GRCh38]
Chr3:148858274 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.884+7T>C single nucleotide variant HPS3-related disorder [RCV003963173]|Hermansky-Pudlak syndrome [RCV001279649]|not provided [RCV001429676] Chr3:149141195 [GRCh38]
Chr3:148858982 [GRCh37]
Chr3:3q24		 benign|likely benign
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002504409]|Hermansky-Pudlak syndrome [RCV001280035] Chr3:149172169 [GRCh38]
Chr3:148889956 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.789A>G (p.Glu263=) single nucleotide variant not provided [RCV001395480]|not specified [RCV001820093] Chr3:149141093 [GRCh38]
Chr3:148858880 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.2387A>G (p.Gln796Arg) single nucleotide variant not provided [RCV001298439] Chr3:149162784 [GRCh38]
Chr3:148880571 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.884+20_884+25dup duplication not provided [RCV001450280] Chr3:149141200..149141201 [GRCh38]
Chr3:148858987..148858988 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1087T>C (p.Leu363=) single nucleotide variant not provided [RCV001416497] Chr3:149145470 [GRCh38]
Chr3:148863257 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2090_2094del (p.Met697fs) microsatellite Hermansky-Pudlak syndrome 3 [RCV003473954]|not provided [RCV001384668] Chr3:149160254..149160258 [GRCh38]
Chr3:148878041..148878045 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.561T>C (p.Thr187=) single nucleotide variant not provided [RCV001399157] Chr3:149140347 [GRCh38]
Chr3:148858134 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.942C>T (p.Ser314=) single nucleotide variant not provided [RCV001484076] Chr3:149141352 [GRCh38]
Chr3:148859139 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2709G>A (p.Glu903=) single nucleotide variant not provided [RCV001469832] Chr3:149167153 [GRCh38]
Chr3:148884940 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1104G>A (p.Gln368=) single nucleotide variant not provided [RCV001485804] Chr3:149145487 [GRCh38]
Chr3:148863274 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2482-9A>G single nucleotide variant not provided [RCV001404908] Chr3:149163833 [GRCh38]
Chr3:148881620 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.27G>A (p.Pro9=) single nucleotide variant not provided [RCV001458797] Chr3:149129750 [GRCh38]
Chr3:148847537 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1508dup (p.Met503fs) duplication not provided [RCV001380661] Chr3:149155213..149155214 [GRCh38]
Chr3:148873000..148873001 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2887+18_2887+19dup duplication Hermansky-Pudlak syndrome [RCV001832708]|not provided [RCV001519936] Chr3:149167992..149167993 [GRCh38]
Chr3:148885779..148885780 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2877A>G (p.Ser959=) single nucleotide variant not provided [RCV001491173] Chr3:149167973 [GRCh38]
Chr3:148885760 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2595T>A (p.Leu865=) single nucleotide variant not provided [RCV001503523] Chr3:149167039 [GRCh38]
Chr3:148884826 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002501516]|not provided [RCV001428385] Chr3:149172174 [GRCh38]
Chr3:148889961 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2482-18A>C single nucleotide variant not provided [RCV001520048] Chr3:149163824 [GRCh38]
Chr3:148881611 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.411G>A (p.Leu137=) single nucleotide variant not provided [RCV001488694] Chr3:149140197 [GRCh38]
Chr3:148857984 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1902T>C (p.Phe634=) single nucleotide variant not provided [RCV001492729] Chr3:149160075 [GRCh38]
Chr3:148877862 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2589+2T>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001780288]|Hermansky-Pudlak syndrome [RCV001826144]|not provided [RCV001378811] Chr3:149163951 [GRCh38]
Chr3:148881738 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.2985C>G (p.Leu995=) single nucleotide variant not provided [RCV001499514] Chr3:149172192 [GRCh38]
Chr3:148889979 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.264A>G (p.Leu88=) single nucleotide variant not provided [RCV001471718] Chr3:149140050 [GRCh38]
Chr3:148857837 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.135G>A (p.Ala45=) single nucleotide variant not provided [RCV001491521] Chr3:149129858 [GRCh38]
Chr3:148847645 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.858T>C (p.Tyr286=) single nucleotide variant not provided [RCV001500721] Chr3:149141162 [GRCh38]
Chr3:148858949 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2232A>C (p.Ser744=) single nucleotide variant not provided [RCV001466439] Chr3:149162273 [GRCh38]
Chr3:148880060 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2442G>A (p.Gln814=) single nucleotide variant not provided [RCV001476991] Chr3:149162839 [GRCh38]
Chr3:148880626 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1169del (p.Asn390fs) deletion not provided [RCV001390503] Chr3:149150603 [GRCh38]
Chr3:148868390 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.859del (p.Ser287fs) deletion not provided [RCV001390515] Chr3:149141162 [GRCh38]
Chr3:148858949 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.645T>C (p.Pro215=) single nucleotide variant not provided [RCV001474428] Chr3:149140431 [GRCh38]
Chr3:148858218 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1821C>A (p.Ile607=) single nucleotide variant not provided [RCV001492971] Chr3:149158795 [GRCh38]
Chr3:148876582 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2610A>G (p.Ser870=) single nucleotide variant not provided [RCV001487258] Chr3:149167054 [GRCh38]
Chr3:148884841 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.26del (p.Pro9fs) deletion not provided [RCV001386197] Chr3:149129747 [GRCh38]
Chr3:148847534 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2958T>G (p.Thr986=) single nucleotide variant not provided [RCV001485693] Chr3:149172165 [GRCh38]
Chr3:148889952 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1383G>A (p.Gln461=) single nucleotide variant not provided [RCV001393267] Chr3:149153631 [GRCh38]
Chr3:148871418 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1806C>T (p.Tyr602=) single nucleotide variant not provided [RCV001474610] Chr3:149158780 [GRCh38]
Chr3:148876567 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1873-10C>T single nucleotide variant not provided [RCV001398111] Chr3:149160036 [GRCh38]
Chr3:148877823 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.936A>G (p.Leu312=) single nucleotide variant not provided [RCV001429315] Chr3:149141346 [GRCh38]
Chr3:148859133 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1833T>C (p.Asn611=) single nucleotide variant not provided [RCV001470815] Chr3:149158807 [GRCh38]
Chr3:148876594 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1400+8T>A single nucleotide variant not provided [RCV001506525] Chr3:149153656 [GRCh38]
Chr3:148871443 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1400+244T>C single nucleotide variant not provided [RCV001643466] Chr3:149153892 [GRCh38]
Chr3:148871679 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1246-5A>G single nucleotide variant not provided [RCV001443325] Chr3:149153489 [GRCh38]
Chr3:148871276 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1400+10C>T single nucleotide variant not provided [RCV001427904] Chr3:149153658 [GRCh38]
Chr3:148871445 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2399dup (p.Lys801fs) duplication not provided [RCV001382285] Chr3:149162791..149162792 [GRCh38]
Chr3:148880578..148880579 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.27G>C (p.Pro9=) single nucleotide variant not provided [RCV001443799] Chr3:149129750 [GRCh38]
Chr3:148847537 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.318C>A (p.Ile106=) single nucleotide variant not provided [RCV001434227] Chr3:149140104 [GRCh38]
Chr3:148857891 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1842_1843del (p.Leu614_Tyr615insTer) deletion Hermansky-Pudlak syndrome 3 [RCV003469708]|not provided [RCV001384815] Chr3:149158815..149158816 [GRCh38]
Chr3:148876602..148876603 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.255T>G (p.Ala85=) single nucleotide variant not provided [RCV001446340] Chr3:149140041 [GRCh38]
Chr3:148857828 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1185T>C (p.Thr395=) single nucleotide variant not provided [RCV001417736] Chr3:149150620 [GRCh38]
Chr3:148868407 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1617G>A (p.Leu539=) single nucleotide variant not provided [RCV001410130] Chr3:149157457 [GRCh38]
Chr3:148875244 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2887+10T>C single nucleotide variant not provided [RCV001397701] Chr3:149167993 [GRCh38]
Chr3:148885780 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2553T>G (p.Ala851=) single nucleotide variant not provided [RCV001418023] Chr3:149163913 [GRCh38]
Chr3:148881700 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2865A>G (p.Gln955=) single nucleotide variant not provided [RCV001447182] Chr3:149167961 [GRCh38]
Chr3:148885748 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.987T>C (p.Asp329=) single nucleotide variant not provided [RCV001399930] Chr3:149145370 [GRCh38]
Chr3:148863157 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.948G>A (p.Gln316=) single nucleotide variant not provided [RCV001441996] Chr3:149141358 [GRCh38]
Chr3:148859145 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1482C>A (p.Ile494=) single nucleotide variant not provided [RCV001408106] Chr3:149155188 [GRCh38]
Chr3:148872975 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1722G>A (p.Leu574=) single nucleotide variant not provided [RCV001434376] Chr3:149158696 [GRCh38]
Chr3:148876483 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.814_815insGA (p.Val272fs) insertion not provided [RCV001381295] Chr3:149141118..149141119 [GRCh38]
Chr3:148858905..148858906 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2748G>A (p.Pro916=) single nucleotide variant not provided [RCV001447720] Chr3:149167192 [GRCh38]
Chr3:148884979 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.182_198del (p.Leu61fs) deletion not provided [RCV001380640] Chr3:149129902..149129918 [GRCh38]
Chr3:148847689..148847705 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs) duplication Hermansky-Pudlak syndrome 3 [RCV001780368] Chr3:149150620..149150621 [GRCh38]
Chr3:148868407..148868408 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1163+9A>T single nucleotide variant not provided [RCV001447728] Chr3:149145555 [GRCh38]
Chr3:148863342 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.855A>G (p.Lys285=) single nucleotide variant not provided [RCV001448011] Chr3:149141159 [GRCh38]
Chr3:148858946 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2587C>T (p.Gln863Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469665]|not provided [RCV001381771] Chr3:149163947 [GRCh38]
Chr3:148881734 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1873-8C>T single nucleotide variant not provided [RCV001445460] Chr3:149160038 [GRCh38]
Chr3:148877825 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.204C>T (p.Ala68=) single nucleotide variant not provided [RCV001448074] Chr3:149129927 [GRCh38]
Chr3:148847714 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1400+7A>G single nucleotide variant not provided [RCV001416453] Chr3:149153655 [GRCh38]
Chr3:148871442 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1509+1G>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003145647]|not provided [RCV001378711] Chr3:149155216 [GRCh38]
Chr3:148873003 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2379G>T (p.Val793=) single nucleotide variant not provided [RCV001427256] Chr3:149162776 [GRCh38]
Chr3:148880563 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2754A>G (p.Ala918=) single nucleotide variant not provided [RCV001445621] Chr3:149167198 [GRCh38]
Chr3:148884985 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.861C>T (p.Ser287=) single nucleotide variant not provided [RCV001408959] Chr3:149141165 [GRCh38]
Chr3:148858952 [GRCh37]
Chr3:3q24		 likely benign
NC_000003.11:g.(?_148847511)_(148847747_?)del deletion not provided [RCV001387906] Chr3:148847511..148847747 [GRCh37]
Chr3:3q24		 pathogenic
NC_000003.11:g.(?_148838832)_148847724del deletion not provided [RCV001387907]   pathogenic
NM_032383.5(HPS3):c.2590-7T>C single nucleotide variant not provided [RCV001457451] Chr3:149167027 [GRCh38]
Chr3:148884814 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2107-8A>T single nucleotide variant not provided [RCV001457595] Chr3:149162140 [GRCh38]
Chr3:148879927 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1245+59C>G single nucleotide variant not provided [RCV001668841] Chr3:149150739 [GRCh38]
Chr3:148868526 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2107-8A>G single nucleotide variant not provided [RCV001450456] Chr3:149162140 [GRCh38]
Chr3:148879927 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1782A>G (p.Thr594=) single nucleotide variant not provided [RCV001457622] Chr3:149158756 [GRCh38]
Chr3:148876543 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1400+18C>T single nucleotide variant not provided [RCV001495175] Chr3:149153666 [GRCh38]
Chr3:148871453 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.378C>T (p.Tyr126=) single nucleotide variant not provided [RCV001481970] Chr3:149140164 [GRCh38]
Chr3:148857951 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1623T>A (p.Pro541=) single nucleotide variant not provided [RCV001469027] Chr3:149157463 [GRCh38]
Chr3:148875250 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2292+63C>A single nucleotide variant not provided [RCV001666856] Chr3:149162396 [GRCh38]
Chr3:148880183 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.420C>T (p.Ser140=) single nucleotide variant not provided [RCV001474031] Chr3:149140206 [GRCh38]
Chr3:148857993 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2562T>C (p.Asn854=) single nucleotide variant not provided [RCV001462687] Chr3:149163922 [GRCh38]
Chr3:148881709 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+165T>G single nucleotide variant not provided [RCV001613838] Chr3:149141545 [GRCh38]
Chr3:148859332 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2607T>A (p.Pro869=) single nucleotide variant not provided [RCV001452182] Chr3:149167051 [GRCh38]
Chr3:148884838 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.675A>G (p.Pro225=) single nucleotide variant not provided [RCV001479905] Chr3:149140461 [GRCh38]
Chr3:148858248 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1245+87A>G single nucleotide variant not provided [RCV001592391] Chr3:149150767 [GRCh38]
Chr3:148868554 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+172del deletion not provided [RCV001537089] Chr3:149141532 [GRCh38]
Chr3:148859319 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2769T>C (p.Ala923=) single nucleotide variant not provided [RCV001500726] Chr3:149167213 [GRCh38]
Chr3:148885000 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2634G>C (p.Pro878=) single nucleotide variant not provided [RCV001459732] Chr3:149167078 [GRCh38]
Chr3:148884865 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+132C>T single nucleotide variant not provided [RCV001647706] Chr3:149130072 [GRCh38]
Chr3:148847859 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.517T>C (p.Leu173=) single nucleotide variant not provided [RCV001480739] Chr3:149140303 [GRCh38]
Chr3:148858090 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.258A>G (p.Thr86=) single nucleotide variant not provided [RCV001504388] Chr3:149140044 [GRCh38]
Chr3:148857831 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.218-101C>T single nucleotide variant not provided [RCV001715886] Chr3:149139903 [GRCh38]
Chr3:148857690 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.970+161T>G single nucleotide variant not provided [RCV001680816] Chr3:149141541 [GRCh38]
Chr3:148859328 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2107-176A>G single nucleotide variant not provided [RCV001652888] Chr3:149161972 [GRCh38]
Chr3:148879759 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1449G>A (p.Glu483=) single nucleotide variant not provided [RCV001478319] Chr3:149155155 [GRCh38]
Chr3:148872942 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.702G>T (p.Arg234=) single nucleotide variant not provided [RCV001488918] Chr3:149140488 [GRCh38]
Chr3:148858275 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2888-1878T>G single nucleotide variant not provided [RCV001674664] Chr3:149170217 [GRCh38]
Chr3:148888004 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1140A>T (p.Pro380=) single nucleotide variant not provided [RCV001505100] Chr3:149145523 [GRCh38]
Chr3:148863310 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1400+97A>G single nucleotide variant not provided [RCV001616758] Chr3:149153745 [GRCh38]
Chr3:148871532 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.713-2A>T single nucleotide variant not provided [RCV001379888] Chr3:149141015 [GRCh38]
Chr3:148858802 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.24C>T (p.His8=) single nucleotide variant not provided [RCV001419512] Chr3:149129747 [GRCh38]
Chr3:148847534 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.501T>C (p.Asn167=) single nucleotide variant not provided [RCV001431099] Chr3:149140287 [GRCh38]
Chr3:148858074 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1815A>G (p.Gly605=) single nucleotide variant not provided [RCV001417188] Chr3:149158789 [GRCh38]
Chr3:148876576 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2766T>C (p.Tyr922=) single nucleotide variant not provided [RCV001482624] Chr3:149167210 [GRCh38]
Chr3:148884997 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1269T>C (p.Asp423=) single nucleotide variant not provided [RCV001394329] Chr3:149153517 [GRCh38]
Chr3:148871304 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2856G>A (p.Glu952=) single nucleotide variant not provided [RCV001403105] Chr3:149167952 [GRCh38]
Chr3:148885739 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+19C>G single nucleotide variant not provided [RCV001509795] Chr3:149129959 [GRCh38]
Chr3:148847746 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.884+25dup duplication not provided [RCV001513131] Chr3:149141200..149141201 [GRCh38]
Chr3:148858987..148858988 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.876G>A (p.Leu292=) single nucleotide variant not provided [RCV001484532] Chr3:149141180 [GRCh38]
Chr3:148858967 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.363C>T (p.Phe121=) single nucleotide variant not provided [RCV001429047] Chr3:149140149 [GRCh38]
Chr3:148857936 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2800C>T (p.Leu934=) single nucleotide variant not provided [RCV001502403] Chr3:149167896 [GRCh38]
Chr3:148885683 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+23_884+25dup duplication not provided [RCV001519568] Chr3:149141200..149141201 [GRCh38]
Chr3:148858987..148858988 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1401-17C>T single nucleotide variant not provided [RCV001468717] Chr3:149155090 [GRCh38]
Chr3:148872877 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1203G>A (p.Ala401=) single nucleotide variant not provided [RCV001476127] Chr3:149150638 [GRCh38]
Chr3:148868425 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+9T>C single nucleotide variant not provided [RCV001483180] Chr3:149129949 [GRCh38]
Chr3:148847736 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1263T>C (p.Ser421=) single nucleotide variant not provided [RCV001477886] Chr3:149153511 [GRCh38]
Chr3:148871298 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2686C>T (p.Leu896=) single nucleotide variant not provided [RCV001483400] Chr3:149167130 [GRCh38]
Chr3:148884917 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2472G>A (p.Ser824=) single nucleotide variant not provided [RCV001483435]|not specified [RCV004526125] Chr3:149162869 [GRCh38]
Chr3:148880656 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2430G>A (p.Leu810=) single nucleotide variant not provided [RCV001453545] Chr3:149162827 [GRCh38]
Chr3:148880614 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1401-7C>T single nucleotide variant not provided [RCV001418088] Chr3:149155100 [GRCh38]
Chr3:148872887 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.954A>G (p.Leu318=) single nucleotide variant not provided [RCV001400172] Chr3:149141364 [GRCh38]
Chr3:148859151 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1426dup (p.Ile476fs) duplication not provided [RCV001382299] Chr3:149155128..149155129 [GRCh38]
Chr3:148872915..148872916 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1873-4A>G single nucleotide variant not provided [RCV001459308] Chr3:149160042 [GRCh38]
Chr3:148877829 [GRCh37]
Chr3:3q24		 likely benign
NC_000003.11:g.(?_148856983)_148858810del deletion not provided [RCV001378829]   likely pathogenic
NM_032383.5(HPS3):c.939T>C (p.His313=) single nucleotide variant not provided [RCV001503857] Chr3:149141349 [GRCh38]
Chr3:148859136 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2571A>G (p.Glu857=) single nucleotide variant not provided [RCV001400698] Chr3:149163931 [GRCh38]
Chr3:148881718 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2952T>C (p.Asp984=) single nucleotide variant not provided [RCV001398161] Chr3:149172159 [GRCh38]
Chr3:148889946 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2796+2T>C single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003462958]|Hermansky-Pudlak syndrome [RCV001826149]|not provided [RCV001379094] Chr3:149167242 [GRCh38]
Chr3:148885029 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.93C>T (p.Asp31=) single nucleotide variant not provided [RCV001485333] Chr3:149129816 [GRCh38]
Chr3:148847603 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2625C>T (p.Ser875=) single nucleotide variant HPS3-related disorder [RCV003983909]|not provided [RCV001468030] Chr3:149167069 [GRCh38]
Chr3:148884856 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.2888-5C>T single nucleotide variant not provided [RCV001434798] Chr3:149172090 [GRCh38]
Chr3:148889877 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1440T>G (p.Pro480=) single nucleotide variant not provided [RCV001452325] Chr3:149155146 [GRCh38]
Chr3:148872933 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.141C>G (p.Ala47=) single nucleotide variant not provided [RCV001393875] Chr3:149129864 [GRCh38]
Chr3:148847651 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.393G>A (p.Pro131=) single nucleotide variant not provided [RCV001438740] Chr3:149140179 [GRCh38]
Chr3:148857966 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.712+1G>A single nucleotide variant not provided [RCV001379290] Chr3:149140499 [GRCh38]
Chr3:148858286 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1314C>T (p.Ile438=) single nucleotide variant not provided [RCV001485510] Chr3:149153562 [GRCh38]
Chr3:148871349 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1246-9C>T single nucleotide variant not provided [RCV001402568]|not specified [RCV004770143] Chr3:149153485 [GRCh38]
Chr3:148871272 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1734G>A (p.Lys578=) single nucleotide variant not provided [RCV001435731] Chr3:149158708 [GRCh38]
Chr3:148876495 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1614G>C (p.Gln538His) single nucleotide variant not provided [RCV003109175] Chr3:149157454 [GRCh38]
Chr3:148875241 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV001782263]|not provided [RCV002034596] Chr3:149158752 [GRCh38]
Chr3:148876539 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) duplication Hermansky-Pudlak syndrome 3 [RCV001783429]|not provided [RCV001868849] Chr3:149145377..149145378 [GRCh38]
Chr3:148863164..148863165 [GRCh37]
Chr3:3q24		 pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1		 pathogenic
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 copy number gain Brachycephaly [RCV001801182] Chr3:142729607..157921084 [GRCh37]
Chr3:3q23-25.32		 pathogenic
NM_032383.5(HPS3):c.128C>A (p.Ala43Glu) single nucleotide variant not provided [RCV001907957] Chr3:149129851 [GRCh38]
Chr3:148847638 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2273A>G (p.Glu758Gly) single nucleotide variant not provided [RCV001950531] Chr3:149162314 [GRCh38]
Chr3:148880101 [GRCh37]
Chr3:3q24		 uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33		 pathogenic
NM_032383.5(HPS3):c.616G>T (p.Val206Phe) single nucleotide variant not provided [RCV001872964] Chr3:149140402 [GRCh38]
Chr3:148858189 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.556A>G (p.Ile186Val) single nucleotide variant not provided [RCV002008735] Chr3:149140342 [GRCh38]
Chr3:148858129 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.746A>G (p.Asp249Gly) single nucleotide variant not provided [RCV001988474] Chr3:149141050 [GRCh38]
Chr3:148858837 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2796+2T>A single nucleotide variant not provided [RCV002023462] Chr3:149167242 [GRCh38]
Chr3:148885029 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1003C>T (p.Gln335Ter) single nucleotide variant not provided [RCV001949127] Chr3:149145386 [GRCh38]
Chr3:148863173 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2633del (p.Pro878fs) deletion not provided [RCV002007191] Chr3:149167076 [GRCh38]
Chr3:148884863 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2827C>G (p.Leu943Val) single nucleotide variant Inborn genetic diseases [RCV002553653]|not provided [RCV001927434] Chr3:149167923 [GRCh38]
Chr3:148885710 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2636T>A (p.Phe879Tyr) single nucleotide variant not provided [RCV001968771] Chr3:149167080 [GRCh38]
Chr3:148884867 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2081G>T (p.Arg694Ile) single nucleotide variant not provided [RCV002003061] Chr3:149160254 [GRCh38]
Chr3:148878041 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1500C>G (p.Tyr500Ter) single nucleotide variant not provided [RCV002041996] Chr3:149155206 [GRCh38]
Chr3:148872993 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2240G>A (p.Gly747Asp) single nucleotide variant not provided [RCV001912060] Chr3:149162281 [GRCh38]
Chr3:148880068 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.886C>T (p.Arg296Cys) single nucleotide variant not provided [RCV002041134] Chr3:149141296 [GRCh38]
Chr3:148859083 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2736dup (p.Glu913fs) duplication not provided [RCV002004629] Chr3:149167179..149167180 [GRCh38]
Chr3:148884966..148884967 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2419A>C (p.Ile807Leu) single nucleotide variant not provided [RCV001871425] Chr3:149162816 [GRCh38]
Chr3:148880603 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.182T>C (p.Leu61Pro) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002479664]|not provided [RCV002003366] Chr3:149129905 [GRCh38]
Chr3:148847692 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2530G>A (p.Val844Ile) single nucleotide variant not provided [RCV001967564]|not specified [RCV004699567] Chr3:149163890 [GRCh38]
Chr3:148881677 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2210dup (p.Pro738fs) duplication not provided [RCV002007568] Chr3:149162250..149162251 [GRCh38]
Chr3:148880037..148880038 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1246-11T>G single nucleotide variant not provided [RCV001945395] Chr3:149153483 [GRCh38]
Chr3:148871270 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1163+3A>G single nucleotide variant not provided [RCV001948899] Chr3:149145549 [GRCh38]
Chr3:148863336 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1314C>G (p.Ile438Met) single nucleotide variant not provided [RCV001911553] Chr3:149153562 [GRCh38]
Chr3:148871349 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1561del (p.Leu521fs) deletion Hermansky-Pudlak syndrome 3 [RCV002051961]|not provided [RCV001888086] Chr3:149157400 [GRCh38]
Chr3:148875187 [GRCh37]
Chr3:3q24		 pathogenic
NC_000003.11:g.(?_148847511)_(148906009_?)dup duplication Deficiency of ferroxidase [RCV001913415] Chr3:148847511..148906009 [GRCh37]
Chr3:3q24-25.1		 uncertain significance
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter) single nucleotide variant HPS3-related disorder [RCV003892970]|Hermansky-Pudlak syndrome 3 [RCV003475180]|not provided [RCV001964580] Chr3:149140222 [GRCh38]
Chr3:148858009 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.920C>T (p.Ser307Phe) single nucleotide variant not provided [RCV002006864] Chr3:149141330 [GRCh38]
Chr3:148859117 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1586T>G (p.Val529Gly) single nucleotide variant not provided [RCV001965369] Chr3:149157426 [GRCh38]
Chr3:148875213 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1958A>G (p.Asn653Ser) single nucleotide variant not provided [RCV002040802] Chr3:149160131 [GRCh38]
Chr3:148877918 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2167C>A (p.Gln723Lys) single nucleotide variant not provided [RCV001927051] Chr3:149162208 [GRCh38]
Chr3:148879995 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2609C>A (p.Ser870Ter) single nucleotide variant not provided [RCV001947962] Chr3:149167053 [GRCh38]
Chr3:148884840 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.793del (p.Ser265fs) deletion not provided [RCV002007357] Chr3:149141092 [GRCh38]
Chr3:148858879 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2837G>A (p.Arg946Lys) single nucleotide variant not provided [RCV001910915] Chr3:149167933 [GRCh38]
Chr3:148885720 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1927C>T (p.Pro643Ser) single nucleotide variant not provided [RCV002021991] Chr3:149160100 [GRCh38]
Chr3:148877887 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.826_827insA (p.Ser276fs) insertion not provided [RCV001947056] Chr3:149141130..149141131 [GRCh38]
Chr3:148858917..148858918 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1031G>C (p.Cys344Ser) single nucleotide variant not provided [RCV001891762] Chr3:149145414 [GRCh38]
Chr3:148863201 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1732_1736del (p.Lys578fs) deletion not provided [RCV001890779] Chr3:149158704..149158708 [GRCh38]
Chr3:148876491..148876495 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.699_700del (p.Arg234fs) deletion not provided [RCV001963263] Chr3:149140485..149140486 [GRCh38]
Chr3:148858272..148858273 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2411C>T (p.Ser804Leu) single nucleotide variant not provided [RCV001938958] Chr3:149162808 [GRCh38]
Chr3:148880595 [GRCh37]
Chr3:3q24		 uncertain significance
NC_000003.11:g.(?_148447967)_(151176497_?)del deletion Glycogen storage disease XV [RCV003120787] Chr3:148447967..151176497 [GRCh37]
Chr3:3q24-25.1		 pathogenic
NC_000003.11:g.(?_148447967)_(148885790_?)del deletion not provided [RCV001941849] Chr3:148447967..148885790 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) deletion Hermansky-Pudlak syndrome 3 [RCV002482749]|not provided [RCV001887287] Chr3:149167177 [GRCh38]
Chr3:148884964 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.249_252del (p.Asn83fs) deletion Hermansky-Pudlak syndrome 3 [RCV003471135]|not provided [RCV001999921] Chr3:149140032..149140035 [GRCh38]
Chr3:148857819..148857822 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.217+2T>G single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003475301]|not provided [RCV002031304] Chr3:149129942 [GRCh38]
Chr3:148847729 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.411G>C (p.Leu137Phe) single nucleotide variant not provided [RCV002038654] Chr3:149140197 [GRCh38]
Chr3:148857984 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1547A>G (p.Gln516Arg) single nucleotide variant not provided [RCV001994365] Chr3:149157387 [GRCh38]
Chr3:148875174 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.198_211del (p.Leu67fs) deletion not provided [RCV002000064] Chr3:149129918..149129931 [GRCh38]
Chr3:148847705..148847718 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2526C>G (p.His842Gln) single nucleotide variant not provided [RCV001979751] Chr3:149163886 [GRCh38]
Chr3:148881673 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1045_1058del (p.Pro349fs) deletion not provided [RCV001963221] Chr3:149145426..149145439 [GRCh38]
Chr3:148863213..148863226 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2624C>T (p.Ser875Phe) single nucleotide variant not provided [RCV001918905] Chr3:149167068 [GRCh38]
Chr3:148884855 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2794C>T (p.Arg932Trp) single nucleotide variant not provided [RCV001904918] Chr3:149167238 [GRCh38]
Chr3:148885025 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1868_1872del (p.Asn623fs) deletion Hermansky-Pudlak syndrome 3 [RCV003475178]|not provided [RCV001933539] Chr3:149158840..149158844 [GRCh38]
Chr3:148876627..148876631 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1472T>C (p.Val491Ala) single nucleotide variant not provided [RCV002048040] Chr3:149155178 [GRCh38]
Chr3:148872965 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.356A>G (p.Lys119Arg) single nucleotide variant not provided [RCV001936974] Chr3:149140142 [GRCh38]
Chr3:148857929 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.150G>T (p.Glu50Asp) single nucleotide variant Inborn genetic diseases [RCV002543472]|not provided [RCV002029851] Chr3:149129873 [GRCh38]
Chr3:148847660 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1163+16C>T single nucleotide variant not provided [RCV002010979] Chr3:149145562 [GRCh38]
Chr3:148863349 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2884A>G (p.Lys962Glu) single nucleotide variant not provided [RCV001879479] Chr3:149167980 [GRCh38]
Chr3:148885767 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1211G>C (p.Arg404Pro) single nucleotide variant not provided [RCV001881911] Chr3:149150646 [GRCh38]
Chr3:148868433 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.290A>G (p.Lys97Arg) single nucleotide variant not provided [RCV001901110] Chr3:149140076 [GRCh38]
Chr3:148857863 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.884+5T>A single nucleotide variant not provided [RCV001915959] Chr3:149141193 [GRCh38]
Chr3:148858980 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2107-10T>A single nucleotide variant not provided [RCV001930796] Chr3:149162138 [GRCh38]
Chr3:148879925 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.781C>G (p.Leu261Val) single nucleotide variant not provided [RCV001916179] Chr3:149141085 [GRCh38]
Chr3:148858872 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1199C>T (p.Ala400Val) single nucleotide variant not provided [RCV001990781] Chr3:149150634 [GRCh38]
Chr3:148868421 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.320G>A (p.Arg107Gln) single nucleotide variant not provided [RCV002030434] Chr3:149140106 [GRCh38]
Chr3:148857893 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.313T>G (p.Cys105Gly) single nucleotide variant not provided [RCV001958112] Chr3:149140099 [GRCh38]
Chr3:148857886 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1187T>C (p.Val396Ala) single nucleotide variant not provided [RCV002029146] Chr3:149150622 [GRCh38]
Chr3:148868409 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2796+1del deletion Hermansky-Pudlak syndrome 3 [RCV003475119]|not provided [RCV001870148] Chr3:149167239 [GRCh38]
Chr3:148885026 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1967C>T (p.Pro656Leu) single nucleotide variant not provided [RCV001989478] Chr3:149160140 [GRCh38]
Chr3:148877927 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1555_1595dup (p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer) duplication Hermansky-Pudlak syndrome 3 [RCV003471160]|not provided [RCV001939591] Chr3:149157387..149157388 [GRCh38]
Chr3:148875174..148875175 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1686C>G (p.Tyr562Ter) single nucleotide variant not provided [RCV001989860] Chr3:149157526 [GRCh38]
Chr3:148875313 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1164-10T>G single nucleotide variant not provided [RCV001926268] Chr3:149150589 [GRCh38]
Chr3:148868376 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.1807G>C (p.Glu603Gln) single nucleotide variant not provided [RCV002011817] Chr3:149158781 [GRCh38]
Chr3:148876568 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1673T>G (p.Leu558Arg) single nucleotide variant not provided [RCV001980678] Chr3:149157513 [GRCh38]
Chr3:148875300 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2834dup (p.Arg946fs) duplication not provided [RCV002019931] Chr3:149167929..149167930 [GRCh38]
Chr3:148885716..148885717 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1517A>G (p.Tyr506Cys) single nucleotide variant not provided [RCV001939243] Chr3:149157357 [GRCh38]
Chr3:148875144 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1985A>G (p.Tyr662Cys) single nucleotide variant not provided [RCV001992786] Chr3:149160158 [GRCh38]
Chr3:148877945 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2589+1G>A single nucleotide variant not provided [RCV001960539] Chr3:149163950 [GRCh38]
Chr3:148881737 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2318del (p.Thr773fs) deletion not provided [RCV001864790] Chr3:149162715 [GRCh38]
Chr3:148880502 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2293-1G>A single nucleotide variant not provided [RCV002019091] Chr3:149162689 [GRCh38]
Chr3:148880476 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2167C>T (p.Gln723Ter) single nucleotide variant not provided [RCV001939341] Chr3:149162208 [GRCh38]
Chr3:148879995 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.565G>A (p.Val189Ile) single nucleotide variant not provided [RCV001864993] Chr3:149140351 [GRCh38]
Chr3:148858138 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1872_1872+4del deletion not provided [RCV002009935] Chr3:149158843..149158847 [GRCh38]
Chr3:148876630..148876634 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2238G>A (p.Leu746=) single nucleotide variant not provided [RCV001884257] Chr3:149162279 [GRCh38]
Chr3:148880066 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NC_000003.11:g.(?_148868376)_(148873012_?)del deletion not provided [RCV001993344] Chr3:148868376..148873012 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs) deletion Hermansky-Pudlak syndrome 3 [RCV003471106]|not provided [RCV001997487] Chr3:149162738..149162739 [GRCh38]
Chr3:148880525..148880526 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.721A>G (p.Asn241Asp) single nucleotide variant not provided [RCV001916171] Chr3:149141025 [GRCh38]
Chr3:148858812 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2292+1G>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003471286]|not provided [RCV002049155] Chr3:149162334 [GRCh38]
Chr3:148880121 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1245+2T>G single nucleotide variant not provided [RCV001979340] Chr3:149150682 [GRCh38]
Chr3:148868469 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1022G>A (p.Ser341Asn) single nucleotide variant not provided [RCV001918373] Chr3:149145405 [GRCh38]
Chr3:148863192 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.712+2T>A single nucleotide variant not provided [RCV001960536] Chr3:149140500 [GRCh38]
Chr3:148858287 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.35C>A (p.Ser12Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003448433]|not provided [RCV001924191] Chr3:149129758 [GRCh38]
Chr3:148847545 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.2841A>G (p.Ile947Met) single nucleotide variant not provided [RCV001980861] Chr3:149167937 [GRCh38]
Chr3:148885724 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.728_729insA (p.Ser244fs) insertion Hermansky-Pudlak syndrome 3 [RCV003475220]|not provided [RCV001939475] Chr3:149141032..149141033 [GRCh38]
Chr3:148858819..148858820 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1151A>T (p.His384Leu) single nucleotide variant not provided [RCV001917675] Chr3:149145534 [GRCh38]
Chr3:148863321 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.448G>A (p.Val150Ile) single nucleotide variant not provided [RCV001953021] Chr3:149140234 [GRCh38]
Chr3:148858021 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.306_307del (p.Arg103fs) microsatellite not provided [RCV001994837] Chr3:149140089..149140090 [GRCh38]
Chr3:148857876..148857877 [GRCh37]
Chr3:3q24		 pathogenic
NC_000003.11:g.(?_148863121)_(148863353_?)del deletion not provided [RCV001974997] Chr3:148863121..148863353 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.161C>T (p.Pro54Leu) single nucleotide variant not provided [RCV001934406] Chr3:149129884 [GRCh38]
Chr3:148847671 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2342T>C (p.Phe781Ser) single nucleotide variant not provided [RCV001975263] Chr3:149162739 [GRCh38]
Chr3:148880526 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1751T>C (p.Met584Thr) single nucleotide variant Inborn genetic diseases [RCV002563587]|not provided [RCV002014694] Chr3:149158725 [GRCh38]
Chr3:148876512 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1347T>G (p.Thr449=) single nucleotide variant not provided [RCV002091945] Chr3:149153595 [GRCh38]
Chr3:148871382 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.69C>T (p.Asp23=) single nucleotide variant not provided [RCV002092527] Chr3:149129792 [GRCh38]
Chr3:148847579 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.218-5C>T single nucleotide variant not provided [RCV002085087] Chr3:149139999 [GRCh38]
Chr3:148857786 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.180G>T (p.Thr60=) single nucleotide variant not provided [RCV002185481] Chr3:149129903 [GRCh38]
Chr3:148847690 [GRCh37]
Chr3:3q24		 likely benign
NM_000096.4(CP):c.3183C>T (p.Asp1061=) single nucleotide variant Deficiency of ferroxidase [RCV002105287] Chr3:149173729 [GRCh38]
Chr3:148891516 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1992G>A (p.Arg664=) single nucleotide variant not provided [RCV002188833] Chr3:149160165 [GRCh38]
Chr3:148877952 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2895G>A (p.Leu965=) single nucleotide variant not provided [RCV002128448] Chr3:149172102 [GRCh38]
Chr3:148889889 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2590-10C>T single nucleotide variant not provided [RCV002166529] Chr3:149167024 [GRCh38]
Chr3:148884811 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1163+14G>A single nucleotide variant not provided [RCV002090539] Chr3:149145560 [GRCh38]
Chr3:148863347 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1395G>A (p.Arg465=) single nucleotide variant not provided [RCV002092578] Chr3:149153643 [GRCh38]
Chr3:148871430 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1143A>G (p.Gln381=) single nucleotide variant not provided [RCV002187316] Chr3:149145526 [GRCh38]
Chr3:148863313 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1716C>T (p.Leu572=) single nucleotide variant not provided [RCV002207930] Chr3:149158690 [GRCh38]
Chr3:148876477 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1872+17G>A single nucleotide variant not provided [RCV002092689] Chr3:149158863 [GRCh38]
Chr3:148876650 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.345A>G (p.Gly115=) single nucleotide variant not provided [RCV002188725] Chr3:149140131 [GRCh38]
Chr3:148857918 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1365C>T (p.Ala455=) single nucleotide variant not provided [RCV002075036] Chr3:149153613 [GRCh38]
Chr3:148871400 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.507A>G (p.Glu169=) single nucleotide variant not provided [RCV002076273] Chr3:149140293 [GRCh38]
Chr3:148858080 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2184G>A (p.Glu728=) single nucleotide variant not provided [RCV002130069] Chr3:149162225 [GRCh38]
Chr3:148880012 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1137G>A (p.Thr379=) single nucleotide variant not provided [RCV002111455] Chr3:149145520 [GRCh38]
Chr3:148863307 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2871C>T (p.Tyr957=) single nucleotide variant not provided [RCV002167471] Chr3:149167967 [GRCh38]
Chr3:148885754 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.336T>C (p.Asn112=) single nucleotide variant not provided [RCV002092812] Chr3:149140122 [GRCh38]
Chr3:148857909 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2862T>C (p.Tyr954=) single nucleotide variant not provided [RCV002188964] Chr3:149167958 [GRCh38]
Chr3:148885745 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2940T>A (p.Val980=) single nucleotide variant not provided [RCV002145447] Chr3:149172147 [GRCh38]
Chr3:148889934 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2670C>T (p.Gly890=) single nucleotide variant not provided [RCV002168345] Chr3:149167114 [GRCh38]
Chr3:148884901 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2874G>C (p.Leu958=) single nucleotide variant not provided [RCV002165565] Chr3:149167970 [GRCh38]
Chr3:148885757 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2037C>A (p.Thr679=) single nucleotide variant not provided [RCV002186652] Chr3:149160210 [GRCh38]
Chr3:148877997 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.555T>C (p.Asn185=) single nucleotide variant not provided [RCV002106351] Chr3:149140341 [GRCh38]
Chr3:148858128 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1246-18G>T single nucleotide variant not provided [RCV002109035] Chr3:149153476 [GRCh38]
Chr3:148871263 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2313A>G (p.Glu771=) single nucleotide variant not provided [RCV002190832] Chr3:149162710 [GRCh38]
Chr3:148880497 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.981A>C (p.Thr327=) single nucleotide variant not provided [RCV002166967] Chr3:149145364 [GRCh38]
Chr3:148863151 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.756C>T (p.Val252=) single nucleotide variant not provided [RCV002206634] Chr3:149141060 [GRCh38]
Chr3:148858847 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1597C>T (p.Leu533=) single nucleotide variant not provided [RCV002168796] Chr3:149157437 [GRCh38]
Chr3:148875224 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1581G>A (p.Leu527=) single nucleotide variant not provided [RCV002187260] Chr3:149157421 [GRCh38]
Chr3:148875208 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1140A>G (p.Pro380=) single nucleotide variant not provided [RCV002207948] Chr3:149145523 [GRCh38]
Chr3:148863310 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2107-15C>T single nucleotide variant not provided [RCV002165158] Chr3:149162133 [GRCh38]
Chr3:148879920 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2892A>T (p.Thr964=) single nucleotide variant not provided [RCV002146605] Chr3:149172099 [GRCh38]
Chr3:148889886 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1164-9C>A single nucleotide variant not provided [RCV002173705] Chr3:149150590 [GRCh38]
Chr3:148868377 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2887+19T>G single nucleotide variant not provided [RCV002096714] Chr3:149168002 [GRCh38]
Chr3:148885789 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1692-12C>G single nucleotide variant not provided [RCV002193508] Chr3:149158654 [GRCh38]
Chr3:148876441 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.218-18del deletion not provided [RCV002129359] Chr3:149139985 [GRCh38]
Chr3:148857772 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.21G>A (p.Leu7=) single nucleotide variant not provided [RCV002170774] Chr3:149129744 [GRCh38]
Chr3:148847531 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.384T>C (p.Ile128=) single nucleotide variant not provided [RCV002187257] Chr3:149140170 [GRCh38]
Chr3:148857957 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1311C>T (p.Ala437=) single nucleotide variant not provided [RCV002170937] Chr3:149153559 [GRCh38]
Chr3:148871346 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1116G>A (p.Lys372=) single nucleotide variant not provided [RCV002134744] Chr3:149145499 [GRCh38]
Chr3:148863286 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.135G>T (p.Ala45=) single nucleotide variant not provided [RCV002187278] Chr3:149129858 [GRCh38]
Chr3:148847645 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+12_884+13insCTTT insertion not provided [RCV002109590] Chr3:149141200..149141201 [GRCh38]
Chr3:148858987..148858988 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.66G>A (p.Pro22=) single nucleotide variant not provided [RCV002093909] Chr3:149129789 [GRCh38]
Chr3:148847576 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2106+17G>A single nucleotide variant not provided [RCV002097591] Chr3:149160296 [GRCh38]
Chr3:148878083 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1119T>C (p.Ser373=) single nucleotide variant not provided [RCV002108096] Chr3:149145502 [GRCh38]
Chr3:148863289 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1371A>G (p.Pro457=) single nucleotide variant not provided [RCV002195018] Chr3:149153619 [GRCh38]
Chr3:148871406 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.873C>T (p.His291=) single nucleotide variant not provided [RCV002077773] Chr3:149141177 [GRCh38]
Chr3:148858964 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.564T>C (p.Pro188=) single nucleotide variant not provided [RCV002095376] Chr3:149140350 [GRCh38]
Chr3:148858137 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2763A>T (p.Pro921=) single nucleotide variant not provided [RCV002079370] Chr3:149167207 [GRCh38]
Chr3:148884994 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.96G>C (p.Ala32=) single nucleotide variant not provided [RCV002174591] Chr3:149129819 [GRCh38]
Chr3:148847606 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.141C>T (p.Ala47=) single nucleotide variant not provided [RCV002088831] Chr3:149129864 [GRCh38]
Chr3:148847651 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2253C>T (p.Asn751=) single nucleotide variant not provided [RCV002077111] Chr3:149162294 [GRCh38]
Chr3:148880081 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1692-19T>C single nucleotide variant not provided [RCV002097476] Chr3:149158647 [GRCh38]
Chr3:148876434 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.171C>T (p.Ala57=) single nucleotide variant not provided [RCV002094022] Chr3:149129894 [GRCh38]
Chr3:148847681 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2283C>A (p.Ser761=) single nucleotide variant not provided [RCV002150920] Chr3:149162324 [GRCh38]
Chr3:148880111 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2888-15T>C single nucleotide variant not provided [RCV002213776] Chr3:149172080 [GRCh38]
Chr3:148889867 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2590-5C>T single nucleotide variant not provided [RCV002189689] Chr3:149167029 [GRCh38]
Chr3:148884816 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.825G>A (p.Glu275=) single nucleotide variant not provided [RCV002213780] Chr3:149141129 [GRCh38]
Chr3:148858916 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1089G>A (p.Leu363=) single nucleotide variant not provided [RCV002168731] Chr3:149145472 [GRCh38]
Chr3:148863259 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2451C>T (p.Asp817=) single nucleotide variant not provided [RCV002147929] Chr3:149162848 [GRCh38]
Chr3:148880635 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.971-15C>T single nucleotide variant not provided [RCV002193108] Chr3:149145339 [GRCh38]
Chr3:148863126 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2277A>T (p.Ala759=) single nucleotide variant not provided [RCV002172472] Chr3:149162318 [GRCh38]
Chr3:148880105 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.588A>C (p.Gly196=) single nucleotide variant not provided [RCV002172519] Chr3:149140374 [GRCh38]
Chr3:148858161 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2106+16C>T single nucleotide variant not provided [RCV002195045] Chr3:149160295 [GRCh38]
Chr3:148878082 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1873-13G>A single nucleotide variant not provided [RCV002093800] Chr3:149160033 [GRCh38]
Chr3:148877820 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2721C>T (p.Cys907=) single nucleotide variant not provided [RCV002173854] Chr3:149167165 [GRCh38]
Chr3:148884952 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.846A>G (p.Glu282=) single nucleotide variant not provided [RCV002131371] Chr3:149141150 [GRCh38]
Chr3:148858937 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.84G>A (p.Gly28=) single nucleotide variant not provided [RCV002173881] Chr3:149129807 [GRCh38]
Chr3:148847594 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1510-7dup duplication not provided [RCV002115696] Chr3:149157337..149157338 [GRCh38]
Chr3:148875124..148875125 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.297T>A (p.Thr99=) single nucleotide variant not provided [RCV002193932] Chr3:149140083 [GRCh38]
Chr3:148857870 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1275T>C (p.Cys425=) single nucleotide variant not provided [RCV002201298] Chr3:149153523 [GRCh38]
Chr3:148871310 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1041C>T (p.Ser347=) single nucleotide variant not provided [RCV002121913] Chr3:149145424 [GRCh38]
Chr3:148863211 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1873-6C>T single nucleotide variant not provided [RCV002082009] Chr3:149160040 [GRCh38]
Chr3:148877827 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.771C>T (p.Pro257=) single nucleotide variant not provided [RCV002138563] Chr3:149141075 [GRCh38]
Chr3:148858862 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1464G>A (p.Leu488=) single nucleotide variant not provided [RCV002160984] Chr3:149155170 [GRCh38]
Chr3:148872957 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2754A>C (p.Ala918=) single nucleotide variant not provided [RCV002157415] Chr3:149167198 [GRCh38]
Chr3:148884985 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1852C>T (p.Leu618=) single nucleotide variant not provided [RCV002099526] Chr3:149158826 [GRCh38]
Chr3:148876613 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2106+17G>C single nucleotide variant not provided [RCV002218398] Chr3:149160296 [GRCh38]
Chr3:148878083 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2103A>G (p.Ser701=) single nucleotide variant not provided [RCV002182739] Chr3:149160276 [GRCh38]
Chr3:148878063 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.447C>G (p.Leu149=) single nucleotide variant not provided [RCV002154023] Chr3:149140233 [GRCh38]
Chr3:148858020 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.971-6A>G single nucleotide variant not provided [RCV002117631] Chr3:149145348 [GRCh38]
Chr3:148863135 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.75C>T (p.Phe25=) single nucleotide variant not provided [RCV002163715] Chr3:149129798 [GRCh38]
Chr3:148847585 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2428T>C (p.Leu810=) single nucleotide variant not provided [RCV002163774] Chr3:149162825 [GRCh38]
Chr3:148880612 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2859G>A (p.Lys953=) single nucleotide variant not provided [RCV002143937] Chr3:149167955 [GRCh38]
Chr3:148885742 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1691+17G>T single nucleotide variant not provided [RCV002201375] Chr3:149157548 [GRCh38]
Chr3:148875335 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1497G>A (p.Leu499=) single nucleotide variant not provided [RCV002204475] Chr3:149155203 [GRCh38]
Chr3:148872990 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.879C>G (p.Leu293=) single nucleotide variant not provided [RCV002199533] Chr3:149141183 [GRCh38]
Chr3:148858970 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1164-5C>T single nucleotide variant not provided [RCV002101757] Chr3:149150594 [GRCh38]
Chr3:148868381 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.713-17C>A single nucleotide variant not provided [RCV002182278]|not specified [RCV003491028] Chr3:149141000 [GRCh38]
Chr3:148858787 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1401-6T>C single nucleotide variant not provided [RCV002144171] Chr3:149155101 [GRCh38]
Chr3:148872888 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2025A>G (p.Leu675=) single nucleotide variant not provided [RCV002218614] Chr3:149160198 [GRCh38]
Chr3:148877985 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1245+17G>T single nucleotide variant not provided [RCV002097954] Chr3:149150697 [GRCh38]
Chr3:148868484 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1400+9C>A single nucleotide variant not provided [RCV002102076] Chr3:149153657 [GRCh38]
Chr3:148871444 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1026C>T (p.Leu342=) single nucleotide variant not provided [RCV002179311] Chr3:149145409 [GRCh38]
Chr3:148863196 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.36G>A (p.Ser12=) single nucleotide variant not provided [RCV002182683] Chr3:149129759 [GRCh38]
Chr3:148847546 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1873-14C>T single nucleotide variant not provided [RCV002102456] Chr3:149160032 [GRCh38]
Chr3:148877819 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.18C>T (p.Asn6=) single nucleotide variant not provided [RCV002084126] Chr3:149129741 [GRCh38]
Chr3:148847528 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.12G>C (p.Leu4=) single nucleotide variant not provided [RCV002098891] Chr3:149129735 [GRCh38]
Chr3:148847522 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2361G>A (p.Val787=) single nucleotide variant not provided [RCV002179833] Chr3:149162758 [GRCh38]
Chr3:148880545 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2913A>G (p.Glu971=) single nucleotide variant not provided [RCV002201028] Chr3:149172120 [GRCh38]
Chr3:148889907 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.189G>A (p.Arg63=) single nucleotide variant not provided [RCV002183853] Chr3:149129912 [GRCh38]
Chr3:148847699 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2790G>A (p.Glu930=) single nucleotide variant not provided [RCV002123091] Chr3:149167234 [GRCh38]
Chr3:148885021 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2070T>G (p.Leu690=) single nucleotide variant not provided [RCV002183077] Chr3:149160243 [GRCh38]
Chr3:148878030 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2355G>A (p.Gln785=) single nucleotide variant not provided [RCV002143396] Chr3:149162752 [GRCh38]
Chr3:148880539 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.819A>G (p.Thr273=) single nucleotide variant not provided [RCV002121748] Chr3:149141123 [GRCh38]
Chr3:148858910 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1510-6G>A single nucleotide variant not provided [RCV002102327] Chr3:149157344 [GRCh38]
Chr3:148875131 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2136A>G (p.Glu712=) single nucleotide variant not provided [RCV002183611] Chr3:149162177 [GRCh38]
Chr3:148879964 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2277A>G (p.Ala759=) single nucleotide variant not provided [RCV002160192] Chr3:149162318 [GRCh38]
Chr3:148880105 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.741G>A (p.Glu247=) single nucleotide variant not provided [RCV002160007] Chr3:149141045 [GRCh38]
Chr3:148858832 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1746G>A (p.Leu582=) single nucleotide variant not provided [RCV002203926] Chr3:149158720 [GRCh38]
Chr3:148876507 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1920G>A (p.Lys640=) single nucleotide variant not provided [RCV002160510] Chr3:149160093 [GRCh38]
Chr3:148877880 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.123G>A (p.Val41=) single nucleotide variant not provided [RCV002204481] Chr3:149129846 [GRCh38]
Chr3:148847633 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2829T>C (p.Leu943=) single nucleotide variant not provided [RCV002099356] Chr3:149167925 [GRCh38]
Chr3:148885712 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.885-6C>T single nucleotide variant not provided [RCV002124161] Chr3:149141289 [GRCh38]
Chr3:148859076 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.624C>T (p.Ile208=) single nucleotide variant not provided [RCV002103280] Chr3:149140410 [GRCh38]
Chr3:148858197 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2482-7G>A single nucleotide variant not provided [RCV002137058] Chr3:149163835 [GRCh38]
Chr3:148881622 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1691+14C>G single nucleotide variant not provided [RCV002176818] Chr3:149157545 [GRCh38]
Chr3:148875332 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.303C>T (p.Asn101=) single nucleotide variant not provided [RCV002157390] Chr3:149140089 [GRCh38]
Chr3:148857876 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1246-6T>C single nucleotide variant not provided [RCV002140594] Chr3:149153488 [GRCh38]
Chr3:148871275 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1074C>T (p.Val358=) single nucleotide variant not provided [RCV002142803] Chr3:149145457 [GRCh38]
Chr3:148863244 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.971-15C>G single nucleotide variant not provided [RCV003118113] Chr3:149145339 [GRCh38]
Chr3:148863126 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1416C>T (p.Thr472=) single nucleotide variant not provided [RCV003118272] Chr3:149155122 [GRCh38]
Chr3:148872909 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1207G>T (p.Ala403Ser) single nucleotide variant not provided [RCV003115634] Chr3:149150642 [GRCh38]
Chr3:148868429 [GRCh37]
Chr3:3q24		 uncertain significance
NC_000003.11:g.(?_148876443)_(148885037_?)del deletion not provided [RCV003122864] Chr3:148876443..148885037 [GRCh37]
Chr3:3q24		 pathogenic
NC_000003.11:g.(?_148868376)_(148871445_?)del deletion not provided [RCV003122865] Chr3:148868376..148871445 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.970+172dup duplication not provided [RCV002286104] Chr3:149141531..149141532 [GRCh38]
Chr3:148859318..148859319 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2888-42G>A single nucleotide variant not provided [RCV002286128] Chr3:149172053 [GRCh38]
Chr3:148889840 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2150T>A (p.Ile717Asn) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002264888] Chr3:149162191 [GRCh38]
Chr3:148879978 [GRCh37]
Chr3:3q24		 uncertain significance
NC_000003.11:g.(148847728_148857790)_(148890984_?)del deletion Hermansky-Pudlak syndrome [RCV002282932] Chr3:148857790..148890984 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.885-3C>T single nucleotide variant not provided [RCV002614373] Chr3:149141292 [GRCh38]
Chr3:148859079 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2795G>C (p.Arg932Pro) single nucleotide variant not provided [RCV002296086] Chr3:149167239 [GRCh38]
Chr3:148885026 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2080A>T (p.Arg694Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002306630] Chr3:149160253 [GRCh38]
Chr3:148878040 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.809T>A (p.Leu270Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002306673] Chr3:149141113 [GRCh38]
Chr3:148858900 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2380del (p.Val794fs) deletion Hermansky-Pudlak syndrome 3 [RCV002309265] Chr3:149162776 [GRCh38]
Chr3:148880563 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.791_792insC (p.Lys264fs) insertion Hermansky-Pudlak syndrome 3 [RCV002309436] Chr3:149141095..149141096 [GRCh38]
Chr3:148858882..148858883 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1150_1153del (p.His384fs) deletion Hermansky-Pudlak syndrome 3 [RCV002308257] Chr3:149145532..149145535 [GRCh38]
Chr3:148863319..148863322 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.617_618insTCAGCAG (p.Leu207fs) insertion Hermansky-Pudlak syndrome 3 [RCV002309812] Chr3:149140403..149140404 [GRCh38]
Chr3:148858190..148858191 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.964del (p.Gln322fs) deletion Hermansky-Pudlak syndrome 3 [RCV002309851] Chr3:149141373 [GRCh38]
Chr3:148859160 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2287_2289delinsA (p.Phe763fs) indel Hermansky-Pudlak syndrome 3 [RCV002309906] Chr3:149162328..149162330 [GRCh38]
Chr3:148880115..148880117 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2038A>T (p.Lys680Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002309647] Chr3:149160211 [GRCh38]
Chr3:148877998 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2737G>T (p.Glu913Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002306469] Chr3:149167181 [GRCh38]
Chr3:148884968 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.956_957del (p.Pro319fs) deletion Hermansky-Pudlak syndrome 3 [RCV002306549] Chr3:149141365..149141366 [GRCh38]
Chr3:148859152..148859153 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.505delinsAAGCAT (p.Glu169fs) indel Hermansky-Pudlak syndrome 3 [RCV002309946] Chr3:149140291 [GRCh38]
Chr3:148858078 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.356_357del (p.Lys119fs) deletion Hermansky-Pudlak syndrome 3 [RCV002310115] Chr3:149140141..149140142 [GRCh38]
Chr3:148857928..148857929 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.931A>T (p.Lys311Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002308297] Chr3:149141341 [GRCh38]
Chr3:148859128 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.513_516del (p.Leu172fs) deletion Hermansky-Pudlak syndrome 3 [RCV002308378] Chr3:149140299..149140302 [GRCh38]
Chr3:148858086..148858089 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2543_2552del (p.Asp848fs) deletion Hermansky-Pudlak syndrome 3 [RCV002308472] Chr3:149163903..149163912 [GRCh38]
Chr3:148881690..148881699 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.855del (p.Lys285fs) deletion Hermansky-Pudlak syndrome 3 [RCV002306536] Chr3:149141156 [GRCh38]
Chr3:148858943 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1275T>A (p.Cys425Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002307887] Chr3:149153523 [GRCh38]
Chr3:148871310 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2086_2093del (p.Glu696fs) deletion Hermansky-Pudlak syndrome 3 [RCV002307895] Chr3:149160259..149160266 [GRCh38]
Chr3:148878046..148878053 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2510_2511insACTGTCTC (p.Tyr838fs) insertion Hermansky-Pudlak syndrome 3 [RCV002307950] Chr3:149163870..149163871 [GRCh38]
Chr3:148881657..148881658 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.823G>T (p.Glu275Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002307988] Chr3:149141127 [GRCh38]
Chr3:148858914 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.795_796del (p.Ser265fs) deletion Hermansky-Pudlak syndrome 3 [RCV002309097] Chr3:149141098..149141099 [GRCh38]
Chr3:148858885..148858886 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2525_2526del (p.His842fs) deletion Hermansky-Pudlak syndrome 3 [RCV002307966] Chr3:149163884..149163885 [GRCh38]
Chr3:148881671..148881672 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1685_1686delinsT (p.Tyr562fs) indel Hermansky-Pudlak syndrome 3 [RCV002309680] Chr3:149157525..149157526 [GRCh38]
Chr3:148875312..148875313 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2491_2493delinsA (p.Cys831fs) indel Hermansky-Pudlak syndrome 3 [RCV002309722] Chr3:149163851..149163853 [GRCh38]
Chr3:148881638..148881640 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1814del (p.Gly605fs) deletion Hermansky-Pudlak syndrome 3 [RCV002309444] Chr3:149158787 [GRCh38]
Chr3:148876574 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.288_289del (p.Asn96fs) deletion Hermansky-Pudlak syndrome 3 [RCV002309773] Chr3:149140073..149140074 [GRCh38]
Chr3:148857860..148857861 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.325_328del (p.Ile109fs) deletion Hermansky-Pudlak syndrome 3 [RCV002308090] Chr3:149140109..149140112 [GRCh38]
Chr3:148857896..148857899 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2209C>T (p.Gln737Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002309863] Chr3:149162250 [GRCh38]
Chr3:148880037 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.601_602insACTGTCTCTTATACACATC (p.Met201fs) insertion Hermansky-Pudlak syndrome 3 [RCV002309897] Chr3:149140387..149140388 [GRCh38]
Chr3:148858174..148858175 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1627G>T (p.Glu543Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002308205] Chr3:149157467 [GRCh38]
Chr3:148875254 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.423T>A (p.Cys141Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV002306818] Chr3:149140209 [GRCh38]
Chr3:148857996 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.795_796delinsA (p.Ser265fs) indel Hermansky-Pudlak syndrome 3 [RCV002307040] Chr3:149141099..149141100 [GRCh38]
Chr3:148858886..148858887 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.950_951del (p.Leu317fs) deletion Hermansky-Pudlak syndrome 3 [RCV002307067] Chr3:149141360..149141361 [GRCh38]
Chr3:148859147..148859148 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1243A>G (p.Lys415Glu) single nucleotide variant Inborn genetic diseases [RCV002749248] Chr3:149150678 [GRCh38]
Chr3:148868465 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2671C>T (p.Leu891Phe) single nucleotide variant not provided [RCV002685964] Chr3:149167115 [GRCh38]
Chr3:148884902 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1897A>G (p.Met633Val) single nucleotide variant Inborn genetic diseases [RCV002731862] Chr3:149160070 [GRCh38]
Chr3:148877857 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2010G>C (p.Gly670=) single nucleotide variant not provided [RCV003073792] Chr3:149160183 [GRCh38]
Chr3:148877970 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.831G>T (p.Thr277=) single nucleotide variant not provided [RCV002861576] Chr3:149141135 [GRCh38]
Chr3:148858922 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2886A>C (p.Lys962Asn) single nucleotide variant not provided [RCV003013408] Chr3:149167982 [GRCh38]
Chr3:148885769 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.38_39delinsCC (p.Gln13Pro) indel not provided [RCV003073596] Chr3:149129761..149129762 [GRCh38]
Chr3:148847548..148847549 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2107-18T>G single nucleotide variant not provided [RCV003011715] Chr3:149162130 [GRCh38]
Chr3:148879917 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.613G>A (p.Glu205Lys) single nucleotide variant Inborn genetic diseases [RCV002906744] Chr3:149140399 [GRCh38]
Chr3:148858186 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1873-9T>G single nucleotide variant not provided [RCV003017498] Chr3:149160037 [GRCh38]
Chr3:148877824 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.841del (p.Asp281fs) deletion not provided [RCV003016988] Chr3:149141145 [GRCh38]
Chr3:148858932 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.611T>C (p.Leu204Ser) single nucleotide variant not provided [RCV002756332] Chr3:149140397 [GRCh38]
Chr3:148858184 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1377A>C (p.Arg459Ser) single nucleotide variant Inborn genetic diseases [RCV002793821] Chr3:149153625 [GRCh38]
Chr3:148871412 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1223C>T (p.Pro408Leu) single nucleotide variant not provided [RCV003075871] Chr3:149150658 [GRCh38]
Chr3:148868445 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.162G>T (p.Pro54=) single nucleotide variant not provided [RCV002858470] Chr3:149129885 [GRCh38]
Chr3:148847672 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.444_446del (p.Leu149del) deletion not provided [RCV003077029] Chr3:149140228..149140230 [GRCh38]
Chr3:148858015..148858017 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2772T>C (p.Asn924=) single nucleotide variant not provided [RCV002843901] Chr3:149167216 [GRCh38]
Chr3:148885003 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.343G>A (p.Gly115Arg) single nucleotide variant not provided [RCV003076872] Chr3:149140129 [GRCh38]
Chr3:148857916 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2622T>C (p.Ala874=) single nucleotide variant not provided [RCV003016848] Chr3:149167066 [GRCh38]
Chr3:148884853 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1845T>A (p.Tyr615Ter) single nucleotide variant not provided [RCV003034136] Chr3:149158819 [GRCh38]
Chr3:148876606 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.217+8A>G single nucleotide variant not provided [RCV002819300] Chr3:149129948 [GRCh38]
Chr3:148847735 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+12_884+17dup duplication not provided [RCV002974842] Chr3:149141199..149141200 [GRCh38]
Chr3:148858986..148858987 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.971-1G>A single nucleotide variant not provided [RCV002880336] Chr3:149145353 [GRCh38]
Chr3:148863140 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2616C>T (p.Asp872=) single nucleotide variant not provided [RCV002863592] Chr3:149167060 [GRCh38]
Chr3:148884847 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.405C>A (p.Ala135=) single nucleotide variant not provided [RCV002731289] Chr3:149140191 [GRCh38]
Chr3:148857978 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1509+16T>C single nucleotide variant not provided [RCV002730060] Chr3:149155231 [GRCh38]
Chr3:148873018 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2028G>A (p.Val676=) single nucleotide variant not provided [RCV002991808] Chr3:149160201 [GRCh38]
Chr3:148877988 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.998T>A (p.Leu333Ter) single nucleotide variant not provided [RCV003073536] Chr3:149145381 [GRCh38]
Chr3:148863168 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2293-5_2299del deletion not provided [RCV002881924] Chr3:149162682..149162693 [GRCh38]
Chr3:148880469..148880480 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.245A>G (p.Lys82Arg) single nucleotide variant not provided [RCV002994527] Chr3:149140031 [GRCh38]
Chr3:148857818 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1375A>G (p.Arg459Gly) single nucleotide variant not provided [RCV002755799] Chr3:149153623 [GRCh38]
Chr3:148871410 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2207C>T (p.Thr736Ile) single nucleotide variant Inborn genetic diseases [RCV002751977] Chr3:149162248 [GRCh38]
Chr3:148880035 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1692-7C>T single nucleotide variant not provided [RCV002819847] Chr3:149158659 [GRCh38]
Chr3:148876446 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1325A>G (p.Lys442Arg) single nucleotide variant not provided [RCV003099042] Chr3:149153573 [GRCh38]
Chr3:148871360 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1507A>T (p.Met503Leu) single nucleotide variant not provided [RCV002726177] Chr3:149155213 [GRCh38]
Chr3:148873000 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1159A>G (p.Thr387Ala) single nucleotide variant not provided [RCV003076409] Chr3:149145542 [GRCh38]
Chr3:148863329 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1451_1455del (p.Ala484fs) deletion not provided [RCV003034015] Chr3:149155155..149155159 [GRCh38]
Chr3:148872942..148872946 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2589+21_2589+25del deletion not provided [RCV002775728] Chr3:149163967..149163971 [GRCh38]
Chr3:148881754..148881758 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.396T>G (p.Leu132=) single nucleotide variant not provided [RCV002842537] Chr3:149140182 [GRCh38]
Chr3:148857969 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1320C>T (p.His440=) single nucleotide variant not provided [RCV002843488] Chr3:149153568 [GRCh38]
Chr3:148871355 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1631del (p.Lys544fs) deletion Hermansky-Pudlak syndrome 3 [RCV004571253]|not provided [RCV002775925] Chr3:149157470 [GRCh38]
Chr3:148875257 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1210C>T (p.Arg404Cys) single nucleotide variant not provided [RCV002999223] Chr3:149150645 [GRCh38]
Chr3:148868432 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1382A>C (p.Gln461Pro) single nucleotide variant not provided [RCV003080263] Chr3:149153630 [GRCh38]
Chr3:148871417 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2889A>G (p.Glu963=) single nucleotide variant not provided [RCV003003232] Chr3:149172096 [GRCh38]
Chr3:148889883 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1767C>G (p.Ala589=) single nucleotide variant not provided [RCV003003246] Chr3:149158741 [GRCh38]
Chr3:148876528 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1428C>T (p.Ile476=) single nucleotide variant not provided [RCV002870915] Chr3:149155134 [GRCh38]
Chr3:148872921 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1712A>C (p.His571Pro) single nucleotide variant Inborn genetic diseases [RCV002844585] Chr3:149158686 [GRCh38]
Chr3:148876473 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.971-31_971-13del deletion not provided [RCV002800558] Chr3:149145317..149145335 [GRCh38]
Chr3:148863104..148863122 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.66G>C (p.Pro22=) single nucleotide variant not provided [RCV002696107] Chr3:149129789 [GRCh38]
Chr3:148847576 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2106+5G>T single nucleotide variant not provided [RCV002825501] Chr3:149160284 [GRCh38]
Chr3:148878071 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1926G>A (p.Val642=) single nucleotide variant not provided [RCV002889832] Chr3:149160099 [GRCh38]
Chr3:148877886 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.226T>C (p.Leu76=) single nucleotide variant not provided [RCV003000046] Chr3:149140012 [GRCh38]
Chr3:148857799 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1246-20A>G single nucleotide variant not provided [RCV002623265] Chr3:149153474 [GRCh38]
Chr3:148871261 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2591C>T (p.Ser864Phe) single nucleotide variant not provided [RCV002761381] Chr3:149167035 [GRCh38]
Chr3:148884822 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1140A>C (p.Pro380=) single nucleotide variant not provided [RCV003038804] Chr3:149145523 [GRCh38]
Chr3:148863310 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.931A>G (p.Lys311Glu) single nucleotide variant not provided [RCV002591866] Chr3:149141341 [GRCh38]
Chr3:148859128 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1408A>G (p.Lys470Glu) single nucleotide variant not provided [RCV002570208] Chr3:149155114 [GRCh38]
Chr3:148872901 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1683T>C (p.Cys561=) single nucleotide variant not provided [RCV002847493] Chr3:149157523 [GRCh38]
Chr3:148875310 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2190A>C (p.Ala730=) single nucleotide variant not provided [RCV003079628] Chr3:149162231 [GRCh38]
Chr3:148880018 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.807A>G (p.Gly269=) single nucleotide variant not provided [RCV002797369] Chr3:149141111 [GRCh38]
Chr3:148858898 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.955_956insATTTA (p.Pro319fs) insertion not provided [RCV002885155] Chr3:149141365..149141366 [GRCh38]
Chr3:148859152..148859153 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.369C>T (p.Asp123=) single nucleotide variant not provided [RCV003100495] Chr3:149140155 [GRCh38]
Chr3:148857942 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2464C>A (p.Arg822=) single nucleotide variant not provided [RCV002844044] Chr3:149162861 [GRCh38]
Chr3:148880648 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1873-5C>A single nucleotide variant not provided [RCV002735003] Chr3:149160041 [GRCh38]
Chr3:148877828 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.887G>A (p.Arg296His) single nucleotide variant HPS3-related disorder [RCV003943684]|Inborn genetic diseases [RCV004065107]|not provided [RCV002979093]|not specified [RCV003479454] Chr3:149141297 [GRCh38]
Chr3:148859084 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.2546C>T (p.Ser849Phe) single nucleotide variant not provided [RCV003077245] Chr3:149163906 [GRCh38]
Chr3:148881693 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1164-1G>A single nucleotide variant not provided [RCV002868048] Chr3:149150598 [GRCh38]
Chr3:148868385 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2333T>C (p.Leu778Ser) single nucleotide variant Inborn genetic diseases [RCV003080901]|not provided [RCV003088783] Chr3:149162730 [GRCh38]
Chr3:148880517 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.969C>G (p.Thr323=) single nucleotide variant not provided [RCV002949200] Chr3:149141379 [GRCh38]
Chr3:148859166 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.661G>A (p.Val221Ile) single nucleotide variant Inborn genetic diseases [RCV003078953]|not provided [RCV003061469] Chr3:149140447 [GRCh38]
Chr3:148858234 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003485803]|not provided [RCV003002576] Chr3:149167191 [GRCh38]
Chr3:148884978 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.686A>C (p.Asn229Thr) single nucleotide variant not provided [RCV002999982] Chr3:149140472 [GRCh38]
Chr3:148858259 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1213G>C (p.Glu405Gln) single nucleotide variant not provided [RCV002979595] Chr3:149150648 [GRCh38]
Chr3:148868435 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2089A>G (p.Met697Val) single nucleotide variant not provided [RCV002592269] Chr3:149160262 [GRCh38]
Chr3:148878049 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2266A>G (p.Ile756Val) single nucleotide variant not provided [RCV003077480] Chr3:149162307 [GRCh38]
Chr3:148880094 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.882T>G (p.Tyr294Ter) single nucleotide variant not provided [RCV002866822] Chr3:149141186 [GRCh38]
Chr3:148858973 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1510G>T (p.Val504Leu) single nucleotide variant not provided [RCV002885816] Chr3:149157350 [GRCh38]
Chr3:148875137 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1677G>T (p.Gly559=) single nucleotide variant not provided [RCV003052916] Chr3:149157517 [GRCh38]
Chr3:148875304 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.395_407del (p.Leu132fs) deletion not provided [RCV002622224] Chr3:149140180..149140192 [GRCh38]
Chr3:148857967..148857979 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1246-4C>T single nucleotide variant not provided [RCV002909521] Chr3:149153490 [GRCh38]
Chr3:148871277 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2212C>T (p.Pro738Ser) single nucleotide variant not provided [RCV002780573] Chr3:149162253 [GRCh38]
Chr3:148880040 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.601dup (p.Met201fs) duplication not provided [RCV003080827] Chr3:149140386..149140387 [GRCh38]
Chr3:148858173..148858174 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1191G>C (p.Arg397=) single nucleotide variant not provided [RCV002952969] Chr3:149150626 [GRCh38]
Chr3:148868413 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1255C>T (p.Pro419Ser) single nucleotide variant not provided [RCV002695175] Chr3:149153503 [GRCh38]
Chr3:148871290 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2509A>G (p.Ile837Val) single nucleotide variant Inborn genetic diseases [RCV002998665]|not provided [RCV002998664] Chr3:149163869 [GRCh38]
Chr3:148881656 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2639T>C (p.Leu880Ser) single nucleotide variant Inborn genetic diseases [RCV002823523] Chr3:149167083 [GRCh38]
Chr3:148884870 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.541A>G (p.Ile181Val) single nucleotide variant not provided [RCV002756905] Chr3:149140327 [GRCh38]
Chr3:148858114 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2974C>A (p.Pro992Thr) single nucleotide variant not provided [RCV002796499] Chr3:149172181 [GRCh38]
Chr3:148889968 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1692-6del deletion not provided [RCV002796535] Chr3:149158658 [GRCh38]
Chr3:148876445 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.111G>T (p.Ala37=) single nucleotide variant not provided [RCV002824122] Chr3:149129834 [GRCh38]
Chr3:148847621 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2698C>T (p.Arg900Cys) single nucleotide variant Inborn genetic diseases [RCV002661563] Chr3:149167142 [GRCh38]
Chr3:148884929 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.980C>T (p.Thr327Ile) single nucleotide variant Inborn genetic diseases [RCV002869737] Chr3:149145363 [GRCh38]
Chr3:148863150 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1163+9dup duplication not provided [RCV002909559] Chr3:149145554..149145555 [GRCh38]
Chr3:148863341..148863342 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.375G>A (p.Met125Ile) single nucleotide variant Inborn genetic diseases [RCV003009134]|not provided [RCV003002575] Chr3:149140161 [GRCh38]
Chr3:148857948 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.266G>A (p.Arg89His) single nucleotide variant not provided [RCV002620439] Chr3:149140052 [GRCh38]
Chr3:148857839 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1467T>C (p.Tyr489=) single nucleotide variant not provided [RCV003019724] Chr3:149155173 [GRCh38]
Chr3:148872960 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1290G>A (p.Gln430=) single nucleotide variant not provided [RCV002886552] Chr3:149153538 [GRCh38]
Chr3:148871325 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.248dup (p.Asn83fs) duplication Hermansky-Pudlak syndrome 3 [RCV003465809]|not provided [RCV002639989] Chr3:149140029..149140030 [GRCh38]
Chr3:148857816..148857817 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.265C>T (p.Arg89Cys) single nucleotide variant Inborn genetic diseases [RCV002637862]|not provided [RCV002637861] Chr3:149140051 [GRCh38]
Chr3:148857838 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.712+17A>T single nucleotide variant not provided [RCV002790339] Chr3:149140515 [GRCh38]
Chr3:148858302 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1446T>C (p.Ala482=) single nucleotide variant not provided [RCV003085205] Chr3:149155152 [GRCh38]
Chr3:148872939 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2106+8G>C single nucleotide variant not provided [RCV003025526] Chr3:149160287 [GRCh38]
Chr3:148878074 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2589+10_2589+31del deletion not provided [RCV002626696] Chr3:149163956..149163977 [GRCh38]
Chr3:148881743..148881764 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.552T>A (p.Asp184Glu) single nucleotide variant not provided [RCV002575860] Chr3:149140338 [GRCh38]
Chr3:148858125 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1387C>T (p.Pro463Ser) single nucleotide variant Inborn genetic diseases [RCV003170623]|not provided [RCV002928495] Chr3:149153635 [GRCh38]
Chr3:148871422 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1389C>T (p.Pro463=) single nucleotide variant not provided [RCV002791444] Chr3:149153637 [GRCh38]
Chr3:148871424 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2797-7A>C single nucleotide variant not provided [RCV003057214] Chr3:149167886 [GRCh38]
Chr3:148885673 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1795T>C (p.Leu599=) single nucleotide variant not provided [RCV003043696] Chr3:149158769 [GRCh38]
Chr3:148876556 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.246A>G (p.Lys82=) single nucleotide variant not provided [RCV002576284] Chr3:149140032 [GRCh38]
Chr3:148857819 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2106+1G>T single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003465846]|not provided [RCV002851708] Chr3:149160280 [GRCh38]
Chr3:148878067 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2419A>G (p.Ile807Val) single nucleotide variant not provided [RCV003058007] Chr3:149162816 [GRCh38]
Chr3:148880603 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1239C>T (p.Thr413=) single nucleotide variant not provided [RCV002890160] Chr3:149150674 [GRCh38]
Chr3:148868461 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2888-7T>C single nucleotide variant not provided [RCV002871849] Chr3:149172088 [GRCh38]
Chr3:148889875 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.148G>T (p.Glu50Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV004571380]|not provided [RCV002852491] Chr3:149129871 [GRCh38]
Chr3:148847658 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1320C>G (p.His440Gln) single nucleotide variant not provided [RCV002575005] Chr3:149153568 [GRCh38]
Chr3:148871355 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1107del (p.Pro370fs) deletion not provided [RCV003056768] Chr3:149145490 [GRCh38]
Chr3:148863277 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.943C>G (p.Leu315Val) single nucleotide variant Inborn genetic diseases [RCV003274010]|not provided [RCV002765394] Chr3:149141353 [GRCh38]
Chr3:148859140 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1058_1059del (p.Tyr353fs) deletion Hermansky-Pudlak syndrome 3 [RCV004572781]|not provided [RCV003082534] Chr3:149145440..149145441 [GRCh38]
Chr3:148863227..148863228 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.2983C>G (p.Leu995Val) single nucleotide variant Inborn genetic diseases [RCV002764137] Chr3:149172190 [GRCh38]
Chr3:148889977 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.294G>A (p.Arg98=) single nucleotide variant not provided [RCV002851345] Chr3:149140080 [GRCh38]
Chr3:148857867 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.288T>C (p.Asn96=) single nucleotide variant not provided [RCV002642830] Chr3:149140074 [GRCh38]
Chr3:148857861 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.7C>T (p.Gln3Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003465793]|not provided [RCV002594435] Chr3:149129730 [GRCh38]
Chr3:148847517 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.319C>T (p.Arg107Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV004571185]|not provided [RCV002594436] Chr3:149140105 [GRCh38]
Chr3:148857892 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.660A>T (p.Arg220Ser) single nucleotide variant not provided [RCV003084351] Chr3:149140446 [GRCh38]
Chr3:148858233 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.119dup (p.Val41fs) duplication not provided [RCV002740822] Chr3:149129840..149129841 [GRCh38]
Chr3:148847627..148847628 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2769T>A (p.Ala923=) single nucleotide variant not provided [RCV002851210] Chr3:149167213 [GRCh38]
Chr3:148885000 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2073C>G (p.Asp691Glu) single nucleotide variant not provided [RCV003039994] Chr3:149160246 [GRCh38]
Chr3:148878033 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1811G>A (p.Arg604Lys) single nucleotide variant not provided [RCV002700492] Chr3:149158785 [GRCh38]
Chr3:148876572 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2744_2745delinsAT (p.Cys915Tyr) indel not provided [RCV002595185] Chr3:149167188..149167189 [GRCh38]
Chr3:148884975..148884976 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.235A>C (p.Ile79Leu) single nucleotide variant not provided [RCV002644171] Chr3:149140021 [GRCh38]
Chr3:148857808 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1011A>G (p.Lys337=) single nucleotide variant not provided [RCV003057723] Chr3:149145394 [GRCh38]
Chr3:148863181 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.830C>T (p.Thr277Met) single nucleotide variant not provided [RCV002957450] Chr3:149141134 [GRCh38]
Chr3:148858921 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2578del (p.Ser860fs) deletion not provided [RCV003042302] Chr3:149163936 [GRCh38]
Chr3:148881723 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2987A>G (p.Tyr996Cys) single nucleotide variant Inborn genetic diseases [RCV002892828] Chr3:149172194 [GRCh38]
Chr3:148889981 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2239G>C (p.Gly747Arg) single nucleotide variant not provided [RCV002828774] Chr3:149162280 [GRCh38]
Chr3:148880067 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.252A>G (p.Lys84=) single nucleotide variant not provided [RCV002710374] Chr3:149140038 [GRCh38]
Chr3:148857825 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.796_802del (p.Glu266fs) deletion not provided [RCV003057316] Chr3:149141097..149141103 [GRCh38]
Chr3:148858884..148858890 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1691+1G>A single nucleotide variant not provided [RCV002594437] Chr3:149157532 [GRCh38]
Chr3:148875319 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2053C>T (p.Leu685=) single nucleotide variant not provided [RCV002710146] Chr3:149160226 [GRCh38]
Chr3:148878013 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2937T>C (p.Asn979=) single nucleotide variant not provided [RCV002573997] Chr3:149172144 [GRCh38]
Chr3:148889931 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.216T>A (p.Ala72=) single nucleotide variant not provided [RCV002790338] Chr3:149129939 [GRCh38]
Chr3:148847726 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.744A>G (p.Ser248=) single nucleotide variant not provided [RCV002596176] Chr3:149141048 [GRCh38]
Chr3:148858835 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2292+1_2292+2insAATC insertion not provided [RCV003007671] Chr3:149162334..149162335 [GRCh38]
Chr3:148880121..148880122 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.218-17T>C single nucleotide variant not provided [RCV002664033] Chr3:149139987 [GRCh38]
Chr3:148857774 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.971-7C>T single nucleotide variant not provided [RCV002894310] Chr3:149145347 [GRCh38]
Chr3:148863134 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2846G>A (p.Cys949Tyr) single nucleotide variant Inborn genetic diseases [RCV002595807]|not provided [RCV002595808] Chr3:149167942 [GRCh38]
Chr3:148885729 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2103_2104AG[3] (p.Met703fs) microsatellite not provided [RCV002894320] Chr3:149160275..149160276 [GRCh38]
Chr3:148878062..148878063 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1231G>A (p.Asp411Asn) single nucleotide variant not provided [RCV002626767] Chr3:149150666 [GRCh38]
Chr3:148868453 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2637C>T (p.Phe879=) single nucleotide variant not provided [RCV002666648] Chr3:149167081 [GRCh38]
Chr3:148884868 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.466_467del (p.Leu156fs) deletion not provided [RCV003042906] Chr3:149140252..149140253 [GRCh38]
Chr3:148858039..148858040 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2148G>A (p.Leu716=) single nucleotide variant not provided [RCV003048961] Chr3:149162189 [GRCh38]
Chr3:148879976 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.33G>C (p.Gly11=) single nucleotide variant not provided [RCV003029855] Chr3:149129756 [GRCh38]
Chr3:148847543 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+9G>A single nucleotide variant not provided [RCV002601698] Chr3:149141197 [GRCh38]
Chr3:148858984 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1246G>C (p.Ala416Pro) single nucleotide variant not provided [RCV002647714] Chr3:149153494 [GRCh38]
Chr3:148871281 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1202C>T (p.Ala401Val) single nucleotide variant Inborn genetic diseases [RCV003250825]|not provided [RCV002647719] Chr3:149150637 [GRCh38]
Chr3:148868424 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2182G>A (p.Glu728Lys) single nucleotide variant not provided [RCV003090696] Chr3:149162223 [GRCh38]
Chr3:148880010 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1805A>G (p.Tyr602Cys) single nucleotide variant not provided [RCV003065629] Chr3:149158779 [GRCh38]
Chr3:148876566 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1487C>T (p.Pro496Leu) single nucleotide variant not provided [RCV003086404] Chr3:149155193 [GRCh38]
Chr3:148872980 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.918G>C (p.Leu306Phe) single nucleotide variant not provided [RCV002647890] Chr3:149141328 [GRCh38]
Chr3:148859115 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.217+10C>T single nucleotide variant not provided [RCV003030229] Chr3:149129950 [GRCh38]
Chr3:148847737 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2916A>T (p.Leu972=) single nucleotide variant not provided [RCV003048634] Chr3:149172123 [GRCh38]
Chr3:148889910 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1267G>A (p.Asp423Asn) single nucleotide variant not provided [RCV003047574] Chr3:149153515 [GRCh38]
Chr3:148871302 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2224G>C (p.Val742Leu) single nucleotide variant not provided [RCV003091447] Chr3:149162265 [GRCh38]
Chr3:148880052 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2887+13T>C single nucleotide variant not provided [RCV003060476] Chr3:149167996 [GRCh38]
Chr3:148885783 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+15G>C single nucleotide variant not provided [RCV002834937] Chr3:149129955 [GRCh38]
Chr3:148847742 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1055G>C (p.Gly352Ala) single nucleotide variant not provided [RCV002810589] Chr3:149145438 [GRCh38]
Chr3:148863225 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1895A>C (p.Gln632Pro) single nucleotide variant Inborn genetic diseases [RCV002812413] Chr3:149160068 [GRCh38]
Chr3:148877855 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.399G>C (p.Ser133=) single nucleotide variant not provided [RCV003047256] Chr3:149140185 [GRCh38]
Chr3:148857972 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2851G>A (p.Gly951Arg) single nucleotide variant not provided [RCV002746057] Chr3:149167947 [GRCh38]
Chr3:148885734 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.307C>T (p.Arg103Cys) single nucleotide variant not provided [RCV003062548] Chr3:149140093 [GRCh38]
Chr3:148857880 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.393G>T (p.Pro131=) single nucleotide variant not provided [RCV002578323] Chr3:149140179 [GRCh38]
Chr3:148857966 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.876G>C (p.Leu292=) single nucleotide variant not provided [RCV002715322] Chr3:149141180 [GRCh38]
Chr3:148858967 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1197T>C (p.Ser399=) single nucleotide variant not provided [RCV002835076] Chr3:149150632 [GRCh38]
Chr3:148868419 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.498T>C (p.Ile166=) single nucleotide variant not provided [RCV002597982] Chr3:149140284 [GRCh38]
Chr3:148858071 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2236C>T (p.Leu746=) single nucleotide variant not provided [RCV003011304] Chr3:149162277 [GRCh38]
Chr3:148880064 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2910G>A (p.Val970=) single nucleotide variant not provided [RCV003063539] Chr3:149172117 [GRCh38]
Chr3:148889904 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2881T>C (p.Leu961=) single nucleotide variant not provided [RCV002791860] Chr3:149167977 [GRCh38]
Chr3:148885764 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+6A>G single nucleotide variant not provided [RCV003062681] Chr3:149141194 [GRCh38]
Chr3:148858981 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1691+10A>G single nucleotide variant not provided [RCV003011559] Chr3:149157541 [GRCh38]
Chr3:148875328 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2755G>T (p.Val919Phe) single nucleotide variant not provided [RCV002806619] Chr3:149167199 [GRCh38]
Chr3:148884986 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.84_109del (p.Arg30fs) deletion Hermansky-Pudlak syndrome 3 [RCV004571790]|not provided [RCV002899250] Chr3:149129800..149129825 [GRCh38]
Chr3:148847587..148847612 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.784G>A (p.Gly262Ser) single nucleotide variant Inborn genetic diseases [RCV002959405] Chr3:149141088 [GRCh38]
Chr3:148858875 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.70C>A (p.Arg24=) single nucleotide variant not provided [RCV002716325] Chr3:149129793 [GRCh38]
Chr3:148847580 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1479G>C (p.Thr493=) single nucleotide variant not provided [RCV002597871] Chr3:149155185 [GRCh38]
Chr3:148872972 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2443C>T (p.Pro815Ser) single nucleotide variant not provided [RCV002577331] Chr3:149162840 [GRCh38]
Chr3:148880627 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.685A>G (p.Asn229Asp) single nucleotide variant not provided [RCV002576739] Chr3:149140471 [GRCh38]
Chr3:148858258 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1303T>C (p.Leu435=) single nucleotide variant not provided [RCV003009599] Chr3:149153551 [GRCh38]
Chr3:148871338 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2899A>G (p.Ile967Val) single nucleotide variant Inborn genetic diseases [RCV002647747]|not provided [RCV002629854] Chr3:149172106 [GRCh38]
Chr3:148889893 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.413G>T (p.Cys138Phe) single nucleotide variant not provided [RCV003009922] Chr3:149140199 [GRCh38]
Chr3:148857986 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.970+7_970+22del deletion not provided [RCV003028261] Chr3:149141387..149141402 [GRCh38]
Chr3:148859174..148859189 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.897T>G (p.Pro299=) single nucleotide variant not provided [RCV003027656] Chr3:149141307 [GRCh38]
Chr3:148859094 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2590-4A>G single nucleotide variant not provided [RCV002857011] Chr3:149167030 [GRCh38]
Chr3:148884817 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2104G>T (p.Glu702Ter) single nucleotide variant not provided [RCV003027150] Chr3:149160277 [GRCh38]
Chr3:148878064 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1461T>C (p.Asn487=) single nucleotide variant not provided [RCV003010289] Chr3:149155167 [GRCh38]
Chr3:148872954 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.403G>T (p.Ala135Ser) single nucleotide variant not provided [RCV002649960] Chr3:149140189 [GRCh38]
Chr3:148857976 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2007T>G (p.Ser669=) single nucleotide variant not provided [RCV003029909] Chr3:149160180 [GRCh38]
Chr3:148877967 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.89G>A (p.Arg30His) single nucleotide variant Inborn genetic diseases [RCV002718322] Chr3:149129812 [GRCh38]
Chr3:148847599 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2118A>G (p.Val706=) single nucleotide variant not provided [RCV002966439] Chr3:149162159 [GRCh38]
Chr3:148879946 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.308G>A (p.Arg103His) single nucleotide variant not provided [RCV002648043] Chr3:149140094 [GRCh38]
Chr3:148857881 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2847TGG[1] (p.Gly951del) microsatellite not provided [RCV003063265] Chr3:149167942..149167944 [GRCh38]
Chr3:148885729..148885731 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1191G>A (p.Arg397=) single nucleotide variant not provided [RCV003030539] Chr3:149150626 [GRCh38]
Chr3:148868413 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1491G>A (p.Val497=) single nucleotide variant not provided [RCV002876902] Chr3:149155197 [GRCh38]
Chr3:148872984 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.676C>T (p.His226Tyr) single nucleotide variant not provided [RCV002671193] Chr3:149140462 [GRCh38]
Chr3:148858249 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1578T>C (p.His526=) single nucleotide variant not provided [RCV002631169] Chr3:149157418 [GRCh38]
Chr3:148875205 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.63G>A (p.Glu21=) single nucleotide variant not provided [RCV003027874] Chr3:149129786 [GRCh38]
Chr3:148847573 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1536T>C (p.Thr512=) single nucleotide variant not provided [RCV002630236] Chr3:149157376 [GRCh38]
Chr3:148875163 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2797-18C>T single nucleotide variant not provided [RCV002649613] Chr3:149167875 [GRCh38]
Chr3:148885662 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.814G>C (p.Val272Leu) single nucleotide variant Inborn genetic diseases [RCV002793129] Chr3:149141118 [GRCh38]
Chr3:148858905 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1007A>G (p.Glu336Gly) single nucleotide variant Inborn genetic diseases [RCV004066766]|not provided [RCV002670720] Chr3:149145390 [GRCh38]
Chr3:148863177 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2938G>A (p.Val980Ile) single nucleotide variant Inborn genetic diseases [RCV003090917]|not provided [RCV003090916] Chr3:149172145 [GRCh38]
Chr3:148889932 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1337T>C (p.Ile446Thr) single nucleotide variant not provided [RCV002716228] Chr3:149153585 [GRCh38]
Chr3:148871372 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1823T>C (p.Phe608Ser) single nucleotide variant Inborn genetic diseases [RCV003368009]|not provided [RCV002599353] Chr3:149158797 [GRCh38]
Chr3:148876584 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.19C>T (p.Leu7=) single nucleotide variant not provided [RCV002770755] Chr3:149129742 [GRCh38]
Chr3:148847529 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2722A>C (p.Ile908Leu) single nucleotide variant not provided [RCV003091769] Chr3:149167166 [GRCh38]
Chr3:148884953 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1171C>T (p.Leu391=) single nucleotide variant not provided [RCV003065780] Chr3:149150606 [GRCh38]
Chr3:148868393 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2292+1G>C single nucleotide variant not provided [RCV002898947] Chr3:149162334 [GRCh38]
Chr3:148880121 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2796+10T>C single nucleotide variant not provided [RCV002810741] Chr3:149167250 [GRCh38]
Chr3:148885037 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1608C>T (p.Ala536=) single nucleotide variant not provided [RCV003086622] Chr3:149157448 [GRCh38]
Chr3:148875235 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.414C>T (p.Cys138=) single nucleotide variant not provided [RCV003066861] Chr3:149140200 [GRCh38]
Chr3:148857987 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1401-16T>C single nucleotide variant not provided [RCV003068719] Chr3:149155091 [GRCh38]
Chr3:148872878 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.885-22_885-19del deletion not provided [RCV002584122] Chr3:149141272..149141275 [GRCh38]
Chr3:148859059..148859062 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2775T>C (p.His925=) single nucleotide variant not provided [RCV002725571] Chr3:149167219 [GRCh38]
Chr3:148885006 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.815T>C (p.Val272Ala) single nucleotide variant not provided [RCV002634072] Chr3:149141119 [GRCh38]
Chr3:148858906 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2447C>T (p.Pro816Leu) single nucleotide variant not provided [RCV003067143] Chr3:149162844 [GRCh38]
Chr3:148880631 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1750A>G (p.Met584Val) single nucleotide variant not provided [RCV002634209] Chr3:149158724 [GRCh38]
Chr3:148876511 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1182C>G (p.Phe394Leu) single nucleotide variant not provided [RCV003093405] Chr3:149150617 [GRCh38]
Chr3:148868404 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2793C>T (p.Asn931=) single nucleotide variant not provided [RCV003049552] Chr3:149167237 [GRCh38]
Chr3:148885024 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2471C>T (p.Ser824Leu) single nucleotide variant not provided [RCV002943315] Chr3:149162868 [GRCh38]
Chr3:148880655 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.676C>G (p.His226Asp) single nucleotide variant not provided [RCV003093549] Chr3:149140462 [GRCh38]
Chr3:148858249 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.625G>A (p.Val209Ile) single nucleotide variant not provided [RCV003066830] Chr3:149140411 [GRCh38]
Chr3:148858198 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.712+5A>G single nucleotide variant not provided [RCV003067477] Chr3:149140503 [GRCh38]
Chr3:148858290 [GRCh37]
Chr3:3q24		 likely benign|uncertain significance
NM_032383.5(HPS3):c.2996G>T (p.Arg999Leu) single nucleotide variant not provided [RCV003052760] Chr3:149172203 [GRCh38]
Chr3:148889990 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.733C>T (p.Gln245Ter) single nucleotide variant not provided [RCV003051563] Chr3:149141037 [GRCh38]
Chr3:148858824 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.760T>C (p.Cys254Arg) single nucleotide variant not provided [RCV002654661] Chr3:149141064 [GRCh38]
Chr3:148858851 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.87G>A (p.Gly29=) single nucleotide variant not provided [RCV003049928] Chr3:149129810 [GRCh38]
Chr3:148847597 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV002589590] Chr3:149129724 [GRCh38]
Chr3:148847511 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2887+6A>G single nucleotide variant not provided [RCV003072022] Chr3:149167989 [GRCh38]
Chr3:148885776 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2140C>T (p.Arg714Trp) single nucleotide variant not provided [RCV002606214] Chr3:149162181 [GRCh38]
Chr3:148879968 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1692-3T>G single nucleotide variant not provided [RCV003093744] Chr3:149158663 [GRCh38]
Chr3:148876450 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1352C>T (p.Ala451Val) single nucleotide variant not provided [RCV003071406] Chr3:149153600 [GRCh38]
Chr3:148871387 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2887+17_2887+18insG insertion not provided [RCV002610994] Chr3:149168000..149168001 [GRCh38]
Chr3:148885787..148885788 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1012G>T (p.Glu338Ter) single nucleotide variant not provided [RCV002613189] Chr3:149145395 [GRCh38]
Chr3:148863182 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1115A>G (p.Lys372Arg) single nucleotide variant not provided [RCV003066573] Chr3:149145498 [GRCh38]
Chr3:148863285 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1772C>T (p.Thr591Met) single nucleotide variant not provided [RCV002633772] Chr3:149158746 [GRCh38]
Chr3:148876533 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1794A>G (p.Gly598=) single nucleotide variant not provided [RCV002611323] Chr3:149158768 [GRCh38]
Chr3:148876555 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.660A>G (p.Arg220=) single nucleotide variant not provided [RCV002584015] Chr3:149140446 [GRCh38]
Chr3:148858233 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2935A>C (p.Asn979His) single nucleotide variant not provided [RCV003069772] Chr3:149172142 [GRCh38]
Chr3:148889929 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1444G>C (p.Ala482Pro) single nucleotide variant not provided [RCV003070026] Chr3:149155150 [GRCh38]
Chr3:148872937 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1590A>C (p.Arg530=) single nucleotide variant not provided [RCV003070149] Chr3:149157430 [GRCh38]
Chr3:148875217 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1245+8C>G single nucleotide variant not provided [RCV002611974] Chr3:149150688 [GRCh38]
Chr3:148868475 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1589G>A (p.Arg530Gln) single nucleotide variant Inborn genetic diseases [RCV002944947] Chr3:149157429 [GRCh38]
Chr3:148875216 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2408C>T (p.Thr803Ile) single nucleotide variant not provided [RCV003072722] Chr3:149162805 [GRCh38]
Chr3:148880592 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.602T>C (p.Met201Thr) single nucleotide variant Inborn genetic diseases [RCV003171062]|not provided [RCV003067217] Chr3:149140388 [GRCh38]
Chr3:148858175 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2481+5G>A single nucleotide variant not provided [RCV003067295] Chr3:149162883 [GRCh38]
Chr3:148880670 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1045C>G (p.Pro349Ala) single nucleotide variant not provided [RCV003093532] Chr3:149145428 [GRCh38]
Chr3:148863215 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2722A>G (p.Ile908Val) single nucleotide variant not provided [RCV002588099] Chr3:149167166 [GRCh38]
Chr3:148884953 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2424del (p.Ile807_Trp808insTer) deletion Hermansky-Pudlak syndrome 3 [RCV003465820]|not provided [RCV002721464] Chr3:149162820 [GRCh38]
Chr3:148880607 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs) deletion Hermansky-Pudlak syndrome [RCV003226866] Chr3:149167228..149167232 [GRCh38]
Chr3:148885015..148885019 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.529C>T (p.Arg177Cys) single nucleotide variant Inborn genetic diseases [RCV003346766] Chr3:149140315 [GRCh38]
Chr3:148858102 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.731C>A (p.Ser244Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469794] Chr3:149141035 [GRCh38]
Chr3:148858822 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.745_746del (p.Ser248_Asp249insTer) deletion Hermansky-Pudlak syndrome 3 [RCV003469801] Chr3:149141048..149141049 [GRCh38]
Chr3:148858835..148858836 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2289del (p.Phe763fs) deletion Hermansky-Pudlak syndrome 3 [RCV003469804] Chr3:149162325 [GRCh38]
Chr3:148880112 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1246_1247insT (p.Ala416fs) insertion Hermansky-Pudlak syndrome 3 [RCV003469808]|not provided [RCV003542490] Chr3:149153494..149153495 [GRCh38]
Chr3:148871281..148871282 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.706G>T (p.Glu236Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469813] Chr3:149140492 [GRCh38]
Chr3:148858279 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.869_870del (p.Gln290fs) deletion Hermansky-Pudlak syndrome 3 [RCV003469825] Chr3:149141173..149141174 [GRCh38]
Chr3:148858960..148858961 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2887+1G>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003461728] Chr3:149167984 [GRCh38]
Chr3:148885771 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2888-14T>C single nucleotide variant not provided [RCV003873337] Chr3:149172081 [GRCh38]
Chr3:148889868 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+16T>A single nucleotide variant not provided [RCV003569710] Chr3:149141204 [GRCh38]
Chr3:148858991 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1806C>A (p.Tyr602Ter) single nucleotide variant not provided [RCV003569784] Chr3:149158780 [GRCh38]
Chr3:148876567 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1776C>T (p.Asp592=) single nucleotide variant not provided [RCV003543219] Chr3:149158750 [GRCh38]
Chr3:148876537 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2507T>G (p.Leu836Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469802] Chr3:149163867 [GRCh38]
Chr3:148881654 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2194dup (p.His732fs) duplication Hermansky-Pudlak syndrome 3 [RCV003469807] Chr3:149162234..149162235 [GRCh38]
Chr3:148880021..148880022 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1291del (p.Leu431fs) deletion Hermansky-Pudlak syndrome 3 [RCV003469812] Chr3:149153539 [GRCh38]
Chr3:148871326 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.371del (p.Gln124fs) deletion Hermansky-Pudlak syndrome 3 [RCV003469814] Chr3:149140157 [GRCh38]
Chr3:148857944 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1249del (p.Cys417fs) deletion Hermansky-Pudlak syndrome 3 [RCV003469816] Chr3:149153496 [GRCh38]
Chr3:148871283 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.324dup (p.Ile109fs) duplication Hermansky-Pudlak syndrome 3 [RCV003469817] Chr3:149140109..149140110 [GRCh38]
Chr3:148857896..148857897 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1824_1825del (p.Phe608fs) deletion Hermansky-Pudlak syndrome 3 [RCV003469820] Chr3:149158796..149158797 [GRCh38]
Chr3:148876583..148876584 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1873-12T>C single nucleotide variant not provided [RCV003571279] Chr3:149160034 [GRCh38]
Chr3:148877821 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1873-17C>G single nucleotide variant not provided [RCV003686334] Chr3:149160029 [GRCh38]
Chr3:148877816 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.54C>T (p.Cys18=) single nucleotide variant not provided [RCV003569975] Chr3:149129777 [GRCh38]
Chr3:148847564 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+9T>A single nucleotide variant not provided [RCV003543370] Chr3:149129949 [GRCh38]
Chr3:148847736 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1231dup (p.Asp411fs) duplication Hermansky-Pudlak syndrome 3 [RCV003469793] Chr3:149150664..149150665 [GRCh38]
Chr3:148868451..148868452 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.145C>T (p.Gln49Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469796] Chr3:149129868 [GRCh38]
Chr3:148847655 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.658dup (p.Arg220fs) duplication Hermansky-Pudlak syndrome 3 [RCV003469806] Chr3:149140443..149140444 [GRCh38]
Chr3:148858230..148858231 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2440C>T (p.Gln814Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469809] Chr3:149162837 [GRCh38]
Chr3:148880624 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1873-1G>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469810]|not provided [RCV003575104] Chr3:149160045 [GRCh38]
Chr3:148877832 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1492C>T (p.Gln498Ter) single nucleotide variant not provided [RCV003570572] Chr3:149155198 [GRCh38]
Chr3:148872985 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1691+19A>T single nucleotide variant not provided [RCV003570665] Chr3:149157550 [GRCh38]
Chr3:148875337 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.713-18A>G single nucleotide variant not provided [RCV003874825] Chr3:149140999 [GRCh38]
Chr3:148858786 [GRCh37]
Chr3:3q24		 likely benign
GRCh37/hg19 3q24-25.1(chr3:148688674-148940860)x1 copy number loss not provided [RCV003485401] Chr3:148688674..148940860 [GRCh37]
Chr3:3q24-25.1		 uncertain significance
NM_032383.5(HPS3):c.876G>T (p.Leu292=) single nucleotide variant not provided [RCV003570830] Chr3:149141180 [GRCh38]
Chr3:148858967 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1109del (p.Pro370fs) deletion not provided [RCV003543572] Chr3:149145491 [GRCh38]
Chr3:148863278 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.904del (p.Ser302fs) deletion not provided [RCV003571922] Chr3:149141312 [GRCh38]
Chr3:148859099 [GRCh37]
Chr3:3q24		 pathogenic
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_032383.5(HPS3):c.904dup (p.Ser302fs) duplication Hermansky-Pudlak syndrome 3 [RCV003476451] Chr3:149141311..149141312 [GRCh38]
Chr3:148859098..148859099 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2423G>A (p.Trp808Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003476452] Chr3:149162820 [GRCh38]
Chr3:148880607 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1353A>G (p.Ala451=) single nucleotide variant not provided [RCV003568975] Chr3:149153601 [GRCh38]
Chr3:148871388 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.496_497dup (p.Asn167fs) duplication Hermansky-Pudlak syndrome 3 [RCV003469818] Chr3:149140281..149140282 [GRCh38]
Chr3:148858068..148858069 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.219del (p.Asp74fs) deletion Hermansky-Pudlak syndrome 3 [RCV003461725] Chr3:149140005 [GRCh38]
Chr3:148857792 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.121G>A (p.Val41Met) single nucleotide variant not specified [RCV003479894] Chr3:149129844 [GRCh38]
Chr3:148847631 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2182G>T (p.Glu728Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469824] Chr3:149162223 [GRCh38]
Chr3:148880010 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.656del (p.Glu219fs) deletion not provided [RCV003691492] Chr3:149140442 [GRCh38]
Chr3:148858229 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.87del (p.Arg30fs) deletion Hermansky-Pudlak syndrome 3 [RCV003476453] Chr3:149129805 [GRCh38]
Chr3:148847592 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.404C>G (p.Ala135Gly) single nucleotide variant HPS3-related disorder [RCV003406043]|Inborn genetic diseases [RCV004362829] Chr3:149140190 [GRCh38]
Chr3:148857977 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003444503] Chr3:149172218 [GRCh38]
Chr3:148890005 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2788G>T (p.Glu930Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003476450] Chr3:149167232 [GRCh38]
Chr3:148885019 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1246dup duplication Hermansky-Pudlak syndrome 3 [RCV003476454] Chr3:149153492..149153493 [GRCh38]
Chr3:148871279..148871280 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1123C>T (p.Gln375Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469795] Chr3:149145506 [GRCh38]
Chr3:148863293 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.589dup (p.Tyr197fs) duplication Hermansky-Pudlak syndrome 3 [RCV003469797]|not provided [RCV003679219] Chr3:149140374..149140375 [GRCh38]
Chr3:148858161..148858162 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.1175del (p.Gln392fs) deletion Hermansky-Pudlak syndrome 3 [RCV003469811] Chr3:149150610 [GRCh38]
Chr3:148868397 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.207C>A (p.Tyr69Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469819] Chr3:149129930 [GRCh38]
Chr3:148847717 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.691C>T (p.Arg231Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469823]|not provided [RCV003661062] Chr3:149140477 [GRCh38]
Chr3:148858264 [GRCh37]
Chr3:3q24		 pathogenic|likely pathogenic
NM_032383.5(HPS3):c.2292+7C>T single nucleotide variant HPS3-related disorder [RCV003399518] Chr3:149162340 [GRCh38]
Chr3:148880127 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2650del (p.Ser884fs) deletion Hermansky-Pudlak syndrome 3 [RCV003461726] Chr3:149167092 [GRCh38]
Chr3:148884879 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.868C>T (p.Gln290Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003461727] Chr3:149141172 [GRCh38]
Chr3:148858959 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1678del (p.Asp560fs) deletion Hermansky-Pudlak syndrome 3 [RCV003461729] Chr3:149157515 [GRCh38]
Chr3:148875302 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.827C>G (p.Ser276Cys) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003388287] Chr3:149141131 [GRCh38]
Chr3:148858918 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.157del (p.Gln53fs) deletion Hermansky-Pudlak syndrome 3 [RCV003469792] Chr3:149129879 [GRCh38]
Chr3:148847666 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1660del (p.Ser554fs) deletion Hermansky-Pudlak syndrome 3 [RCV003469798] Chr3:149157498 [GRCh38]
Chr3:148875285 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469799] Chr3:149167904 [GRCh38]
Chr3:148885691 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469800] Chr3:149167967 [GRCh38]
Chr3:148885754 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2155C>T (p.Gln719Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469805] Chr3:149162196 [GRCh38]
Chr3:148879983 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1120C>T (p.Gln374Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469815] Chr3:149145503 [GRCh38]
Chr3:148863290 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1055del (p.Gly352fs) deletion Hermansky-Pudlak syndrome 3 [RCV003469821] Chr3:149145436 [GRCh38]
Chr3:148863223 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2134G>T (p.Glu712Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV003469826] Chr3:149162175 [GRCh38]
Chr3:148879962 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1400+15G>A single nucleotide variant not provided [RCV003740057] Chr3:149153663 [GRCh38]
Chr3:148871450 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2107-7T>C single nucleotide variant not provided [RCV003696692] Chr3:149162141 [GRCh38]
Chr3:148879928 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+7A>C single nucleotide variant not provided [RCV003829242] Chr3:149129947 [GRCh38]
Chr3:148847734 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.534T>C (p.Ser178=) single nucleotide variant not provided [RCV003545901] Chr3:149140320 [GRCh38]
Chr3:148858107 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2887+15T>G single nucleotide variant not provided [RCV003693444] Chr3:149167998 [GRCh38]
Chr3:148885785 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1164-18C>T single nucleotide variant not provided [RCV003876877] Chr3:149150581 [GRCh38]
Chr3:148868368 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+12C>T single nucleotide variant not provided [RCV003692550] Chr3:149141200 [GRCh38]
Chr3:148858987 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.174C>T (p.Phe58=) single nucleotide variant not provided [RCV003693614] Chr3:149129897 [GRCh38]
Chr3:148847684 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2181C>A (p.Thr727=) single nucleotide variant not provided [RCV003692626] Chr3:149162222 [GRCh38]
Chr3:148880009 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1400+17C>T single nucleotide variant not provided [RCV003740058] Chr3:149153665 [GRCh38]
Chr3:148871452 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.171C>A (p.Ala57=) single nucleotide variant not provided [RCV003687796] Chr3:149129894 [GRCh38]
Chr3:148847681 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.793dup (p.Ser265fs) duplication not provided [RCV003544068] Chr3:149141091..149141092 [GRCh38]
Chr3:148858878..148858879 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2751G>A (p.Glu917=) single nucleotide variant not provided [RCV003572188] Chr3:149167195 [GRCh38]
Chr3:148884982 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.70C>T (p.Arg24Trp) single nucleotide variant not provided [RCV003827348] Chr3:149129793 [GRCh38]
Chr3:148847580 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.957C>T (p.Pro319=) single nucleotide variant not provided [RCV003688138] Chr3:149141367 [GRCh38]
Chr3:148859154 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+13_884+14insGTTTT insertion not provided [RCV003576583] Chr3:149141200..149141201 [GRCh38]
Chr3:148858987..148858988 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2482-7del deletion not provided [RCV003544270] Chr3:149163835 [GRCh38]
Chr3:148881622 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+11_884+12insTTTTT insertion not provided [RCV003692549] Chr3:149141199..149141200 [GRCh38]
Chr3:148858986..148858987 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2796+7T>C single nucleotide variant not provided [RCV003693265] Chr3:149167247 [GRCh38]
Chr3:148885034 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2107-12_2107-9del microsatellite not provided [RCV003691095] Chr3:149162130..149162133 [GRCh38]
Chr3:148879917..148879920 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2589+17C>G single nucleotide variant not provided [RCV003877814] Chr3:149163966 [GRCh38]
Chr3:148881753 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1163+20T>A single nucleotide variant not provided [RCV003827019] Chr3:149145566 [GRCh38]
Chr3:148863353 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.713-4dup duplication not provided [RCV003695077] Chr3:149141006..149141007 [GRCh38]
Chr3:148858793..148858794 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2421C>T (p.Ile807=) single nucleotide variant not provided [RCV003716046] Chr3:149162818 [GRCh38]
Chr3:148880605 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2322T>A (p.Ile774=) single nucleotide variant not provided [RCV003572719] Chr3:149162719 [GRCh38]
Chr3:148880506 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2589+18C>T single nucleotide variant not provided [RCV003572771] Chr3:149163967 [GRCh38]
Chr3:148881754 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.684C>G (p.Thr228=) single nucleotide variant not provided [RCV003715639] Chr3:149140470 [GRCh38]
Chr3:148858257 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.729T>A (p.Ile243=) single nucleotide variant not provided [RCV003716474] Chr3:149141033 [GRCh38]
Chr3:148858820 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2394C>G (p.Leu798=) single nucleotide variant not provided [RCV003577084] Chr3:149162791 [GRCh38]
Chr3:148880578 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2735T>A (p.Leu912Ter) single nucleotide variant not provided [RCV003690614] Chr3:149167179 [GRCh38]
Chr3:148884966 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.799C>T (p.Gln267Ter) single nucleotide variant not provided [RCV003687897] Chr3:149141103 [GRCh38]
Chr3:148858890 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2391A>G (p.Glu797=) single nucleotide variant not provided [RCV003574142] Chr3:149162788 [GRCh38]
Chr3:148880575 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+8A>G single nucleotide variant not provided [RCV003716722] Chr3:149141196 [GRCh38]
Chr3:148858983 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1509+18C>G single nucleotide variant not provided [RCV003694484] Chr3:149155233 [GRCh38]
Chr3:148873020 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.87dup (p.Arg30fs) duplication not provided [RCV003827629] Chr3:149129804..149129805 [GRCh38]
Chr3:148847591..148847592 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2107-17T>C single nucleotide variant not provided [RCV003544273] Chr3:149162131 [GRCh38]
Chr3:148879918 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.885-6C>G single nucleotide variant not provided [RCV003695290] Chr3:149141289 [GRCh38]
Chr3:148859076 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1638G>A (p.Glu546=) single nucleotide variant not provided [RCV003572376] Chr3:149157478 [GRCh38]
Chr3:148875265 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+12_884+14del deletion not provided [RCV003694101] Chr3:149141200..149141202 [GRCh38]
Chr3:148858987..148858989 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.621A>G (p.Leu207=) single nucleotide variant not provided [RCV003696183] Chr3:149140407 [GRCh38]
Chr3:148858194 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.108G>A (p.Ala36=) single nucleotide variant not provided [RCV003547166] Chr3:149129831 [GRCh38]
Chr3:148847618 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2490C>T (p.Ala830=) single nucleotide variant not provided [RCV003547702] Chr3:149163850 [GRCh38]
Chr3:148881637 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2107-10T>G single nucleotide variant not provided [RCV003713685] Chr3:149162138 [GRCh38]
Chr3:148879925 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1749T>C (p.Ser583=) single nucleotide variant not provided [RCV003694655] Chr3:149158723 [GRCh38]
Chr3:148876510 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2577T>G (p.Leu859=) single nucleotide variant not provided [RCV003544138] Chr3:149163937 [GRCh38]
Chr3:148881724 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1450del (p.Ala484fs) deletion not provided [RCV003662172] Chr3:149155155 [GRCh38]
Chr3:148872942 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.224A>G (p.Tyr75Cys) single nucleotide variant not provided [RCV003574213] Chr3:149140010 [GRCh38]
Chr3:148857797 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2797-15T>A single nucleotide variant not provided [RCV003716473] Chr3:149167878 [GRCh38]
Chr3:148885665 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2797-1G>A single nucleotide variant not provided [RCV003661660] Chr3:149167892 [GRCh38]
Chr3:148885679 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1691+11C>T single nucleotide variant not provided [RCV003660296] Chr3:149157542 [GRCh38]
Chr3:148875329 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1582T>C (p.Leu528=) single nucleotide variant not provided [RCV003660259] Chr3:149157422 [GRCh38]
Chr3:148875209 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2797-19T>C single nucleotide variant not provided [RCV003689850] Chr3:149167874 [GRCh38]
Chr3:148885661 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2872C>T (p.Leu958=) single nucleotide variant not provided [RCV003574661] Chr3:149167968 [GRCh38]
Chr3:148885755 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1245+11G>C single nucleotide variant not provided [RCV003575706] Chr3:149150691 [GRCh38]
Chr3:148868478 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.1584A>G (p.Leu528=) single nucleotide variant not provided [RCV003547544] Chr3:149157424 [GRCh38]
Chr3:148875211 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2411C>G (p.Ser804Ter) single nucleotide variant not provided [RCV003547618] Chr3:149162808 [GRCh38]
Chr3:148880595 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.597T>C (p.Ala199=) single nucleotide variant not provided [RCV003572166] Chr3:149140383 [GRCh38]
Chr3:148858170 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.120G>A (p.Lys40=) single nucleotide variant not provided [RCV003659739] Chr3:149129843 [GRCh38]
Chr3:148847630 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.180G>C (p.Thr60=) single nucleotide variant not provided [RCV003715843] Chr3:149129903 [GRCh38]
Chr3:148847690 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2481+12G>A single nucleotide variant not provided [RCV003852332] Chr3:149162890 [GRCh38]
Chr3:148880677 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.330G>C (p.Gly110=) single nucleotide variant not provided [RCV003697738] Chr3:149140116 [GRCh38]
Chr3:148857903 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1809G>A (p.Glu603=) single nucleotide variant not provided [RCV003548203] Chr3:149158783 [GRCh38]
Chr3:148876570 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.558C>T (p.Ile186=) single nucleotide variant not provided [RCV003698063] Chr3:149140344 [GRCh38]
Chr3:148858131 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.732A>G (p.Ser244=) single nucleotide variant not provided [RCV003550264] Chr3:149141036 [GRCh38]
Chr3:148858823 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1330del (p.His444fs) deletion not provided [RCV003549223] Chr3:149153577 [GRCh38]
Chr3:148871364 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2293-18C>T single nucleotide variant not provided [RCV003717256] Chr3:149162672 [GRCh38]
Chr3:148880459 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2107-15C>G single nucleotide variant not provided [RCV003810703] Chr3:149162133 [GRCh38]
Chr3:148879920 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+20A>G single nucleotide variant not provided [RCV003699529] Chr3:149129960 [GRCh38]
Chr3:148847747 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1246-16G>A single nucleotide variant not provided [RCV003855368] Chr3:149153478 [GRCh38]
Chr3:148871265 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1893T>G (p.Val631=) single nucleotide variant not provided [RCV003703661] Chr3:149160066 [GRCh38]
Chr3:148877853 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2976A>G (p.Pro992=) single nucleotide variant not provided [RCV003702976] Chr3:149172183 [GRCh38]
Chr3:148889970 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.820C>T (p.Leu274=) single nucleotide variant not provided [RCV003667163] Chr3:149141124 [GRCh38]
Chr3:148858911 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2019G>T (p.Ser673=) single nucleotide variant not provided [RCV003815979] Chr3:149160192 [GRCh38]
Chr3:148877979 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1509+20G>T single nucleotide variant not provided [RCV003667310] Chr3:149155235 [GRCh38]
Chr3:148873022 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.989del (p.Gly330fs) deletion not provided [RCV003856027] Chr3:149145371 [GRCh38]
Chr3:148863158 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.21G>T (p.Leu7=) single nucleotide variant not provided [RCV003670439] Chr3:149129744 [GRCh38]
Chr3:148847531 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2589+15C>G single nucleotide variant not provided [RCV003726748] Chr3:149163964 [GRCh38]
Chr3:148881751 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2283C>T (p.Ser761=) single nucleotide variant not provided [RCV003581009] Chr3:149162324 [GRCh38]
Chr3:148880111 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1359T>C (p.Pro453=) single nucleotide variant not provided [RCV003674347] Chr3:149153607 [GRCh38]
Chr3:148871394 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1401-18C>T single nucleotide variant not provided [RCV003856547] Chr3:149155089 [GRCh38]
Chr3:148872876 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2107-15C>A single nucleotide variant not provided [RCV003724208] Chr3:149162133 [GRCh38]
Chr3:148879920 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1510-20T>C single nucleotide variant not provided [RCV003725327] Chr3:149157330 [GRCh38]
Chr3:148875117 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2293-11C>T single nucleotide variant not provided [RCV003812000] Chr3:149162679 [GRCh38]
Chr3:148880466 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.348A>G (p.Pro116=) single nucleotide variant not provided [RCV003559533] Chr3:149140134 [GRCh38]
Chr3:148857921 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2589+14C>T single nucleotide variant not provided [RCV003559535] Chr3:149163963 [GRCh38]
Chr3:148881750 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.159G>A (p.Gln53=) single nucleotide variant not provided [RCV003669898] Chr3:149129882 [GRCh38]
Chr3:148847669 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.218-9C>A single nucleotide variant not provided [RCV003725288] Chr3:149139995 [GRCh38]
Chr3:148857782 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.772C>T (p.Leu258=) single nucleotide variant not provided [RCV003814230] Chr3:149141076 [GRCh38]
Chr3:148858863 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1873-16T>C single nucleotide variant not provided [RCV003833783] Chr3:149160030 [GRCh38]
Chr3:148877817 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.270T>C (p.Ala90=) single nucleotide variant not provided [RCV003699768] Chr3:149140056 [GRCh38]
Chr3:148857843 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2433dup (p.Lys812Ter) duplication not provided [RCV003667197] Chr3:149162829..149162830 [GRCh38]
Chr3:148880616..148880617 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2292+17del deletion not provided [RCV003723895] Chr3:149162347 [GRCh38]
Chr3:148880134 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2292+13G>C single nucleotide variant not provided [RCV003855465] Chr3:149162346 [GRCh38]
Chr3:148880133 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.867del (p.Gln290fs) deletion not provided [RCV003701361] Chr3:149141169 [GRCh38]
Chr3:148858956 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1455G>T (p.Gly485=) single nucleotide variant not provided [RCV003700141] Chr3:149155161 [GRCh38]
Chr3:148872948 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.660_661dup (p.Val221fs) microsatellite not provided [RCV003701848] Chr3:149140438..149140439 [GRCh38]
Chr3:148858225..148858226 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2502T>C (p.Tyr834=) single nucleotide variant not provided [RCV003671771] Chr3:149163862 [GRCh38]
Chr3:148881649 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.817dup (p.Thr273fs) duplication not provided [RCV003855406] Chr3:149141120..149141121 [GRCh38]
Chr3:148858907..148858908 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.218-20_218-19insGGAA insertion not provided [RCV003549139] Chr3:149139984..149139985 [GRCh38]
Chr3:148857771..148857772 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2757C>T (p.Val919=) single nucleotide variant not provided [RCV003580784] Chr3:149167201 [GRCh38]
Chr3:148884988 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.187C>A (p.Arg63=) single nucleotide variant not provided [RCV003664710] Chr3:149129910 [GRCh38]
Chr3:148847697 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.550_553del (p.Asp184fs) deletion not provided [RCV003699237] Chr3:149140333..149140336 [GRCh38]
Chr3:148858120..148858123 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1050T>C (p.His350=) single nucleotide variant not provided [RCV003834969] Chr3:149145433 [GRCh38]
Chr3:148863220 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2652A>G (p.Ser884=) single nucleotide variant not provided [RCV003560064] Chr3:149167096 [GRCh38]
Chr3:148884883 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2220G>A (p.Leu740=) single nucleotide variant not provided [RCV003723873] Chr3:149162261 [GRCh38]
Chr3:148880048 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.885-4A>T single nucleotide variant not provided [RCV003833099] Chr3:149141291 [GRCh38]
Chr3:148859078 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2796+7T>A single nucleotide variant not provided [RCV003723802] Chr3:149167247 [GRCh38]
Chr3:148885034 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2797-11dup duplication not provided [RCV003579870] Chr3:149167876..149167877 [GRCh38]
Chr3:148885663..148885664 [GRCh37]
Chr3:3q24		 benign
NM_032383.5(HPS3):c.2019G>A (p.Ser673=) single nucleotide variant not provided [RCV003836473] Chr3:149160192 [GRCh38]
Chr3:148877979 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2589+12T>G single nucleotide variant not provided [RCV003701243] Chr3:149163961 [GRCh38]
Chr3:148881748 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2461T>C (p.Leu821=) single nucleotide variant not provided [RCV003667997] Chr3:149162858 [GRCh38]
Chr3:148880645 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1400+12C>T single nucleotide variant not provided [RCV003728965] Chr3:149153660 [GRCh38]
Chr3:148871447 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+17A>C single nucleotide variant not provided [RCV003846259] Chr3:149141397 [GRCh38]
Chr3:148859184 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1400+12C>G single nucleotide variant not provided [RCV003550386] Chr3:149153660 [GRCh38]
Chr3:148871447 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1692-2A>C single nucleotide variant not provided [RCV003565075] Chr3:149158664 [GRCh38]
Chr3:148876451 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1989A>G (p.Leu663=) single nucleotide variant not provided [RCV003703954] Chr3:149160162 [GRCh38]
Chr3:148877949 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.971-2A>C single nucleotide variant not provided [RCV003706138] Chr3:149145352 [GRCh38]
Chr3:148863139 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.117_124dup (p.Glu42fs) duplication not provided [RCV003566082] Chr3:149129838..149129839 [GRCh38]
Chr3:148847625..148847626 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2279A>G (p.Asp760Gly) single nucleotide variant not provided [RCV003864904] Chr3:149162320 [GRCh38]
Chr3:148880107 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.177C>T (p.Ser59=) single nucleotide variant not provided [RCV003865029] Chr3:149129900 [GRCh38]
Chr3:148847687 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.723T>C (p.Asn241=) single nucleotide variant not provided [RCV003703914] Chr3:149141027 [GRCh38]
Chr3:148858814 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2679C>T (p.Val893=) single nucleotide variant not provided [RCV003841145] Chr3:149167123 [GRCh38]
Chr3:148884910 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.885-18_885-15del deletion not provided [RCV003707189] Chr3:149141274..149141277 [GRCh38]
Chr3:148859061..148859064 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.655G>T (p.Glu219Ter) single nucleotide variant not provided [RCV003553131] Chr3:149140441 [GRCh38]
Chr3:148858228 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.970+19G>A single nucleotide variant not provided [RCV003818815] Chr3:149141399 [GRCh38]
Chr3:148859186 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2988T>C (p.Tyr996=) single nucleotide variant not provided [RCV003707110] Chr3:149172195 [GRCh38]
Chr3:148889982 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2107-12T>C single nucleotide variant not provided [RCV003848011] Chr3:149162136 [GRCh38]
Chr3:148879923 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2589+18_2589+20del deletion not provided [RCV003857990] Chr3:149163967..149163969 [GRCh38]
Chr3:148881754..148881756 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.526G>T (p.Glu176Ter) single nucleotide variant not provided [RCV003709853] Chr3:149140312 [GRCh38]
Chr3:148858099 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.870G>A (p.Gln290=) single nucleotide variant not provided [RCV003681522] Chr3:149141174 [GRCh38]
Chr3:148858961 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+12A>G single nucleotide variant not provided [RCV003731863] Chr3:149129952 [GRCh38]
Chr3:148847739 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+11C>T single nucleotide variant not provided [RCV003858155] Chr3:149141391 [GRCh38]
Chr3:148859178 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2946A>G (p.Pro982=) single nucleotide variant not provided [RCV003728740] Chr3:149172153 [GRCh38]
Chr3:148889940 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.712+20T>G single nucleotide variant not provided [RCV003551481] Chr3:149140518 [GRCh38]
Chr3:148858305 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.30C>T (p.Phe10=) single nucleotide variant not provided [RCV003860371] Chr3:149129753 [GRCh38]
Chr3:148847540 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2797-8T>C single nucleotide variant not provided [RCV003722086] Chr3:149167885 [GRCh38]
Chr3:148885672 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2546_2549del (p.Asp848_Ser849insTer) deletion not provided [RCV003678314] Chr3:149163904..149163907 [GRCh38]
Chr3:148881691..148881694 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2292+18T>C single nucleotide variant not provided [RCV003720396] Chr3:149162351 [GRCh38]
Chr3:148880138 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1702del (p.Gln568fs) deletion not provided [RCV003685332] Chr3:149158674 [GRCh38]
Chr3:148876461 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2482-12T>C single nucleotide variant not provided [RCV003720446] Chr3:149163830 [GRCh38]
Chr3:148881617 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+20_884+21insATTT insertion not provided [RCV003562342] Chr3:149141205..149141206 [GRCh38]
Chr3:148858992..148858993 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2505C>T (p.Gly835=) single nucleotide variant not provided [RCV003677271] Chr3:149163865 [GRCh38]
Chr3:148881652 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1816T>C (p.Leu606=) single nucleotide variant not provided [RCV003563653] Chr3:149158790 [GRCh38]
Chr3:148876577 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2337A>G (p.Val779=) single nucleotide variant not provided [RCV003737793] Chr3:149162734 [GRCh38]
Chr3:148880521 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2679C>G (p.Val893=) single nucleotide variant not provided [RCV003706932] Chr3:149167123 [GRCh38]
Chr3:148884910 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1372G>T (p.Glu458Ter) single nucleotide variant not provided [RCV003721309] Chr3:149153620 [GRCh38]
Chr3:148871407 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2763A>G (p.Pro921=) single nucleotide variant not provided [RCV003732088] Chr3:149167207 [GRCh38]
Chr3:148884994 [GRCh37]
Chr3:3q24		 likely benign
NM_000096.4(CP):c.3186C>A (p.Thr1062=) single nucleotide variant Deficiency of ferroxidase [RCV003871626] Chr3:149173726 [GRCh38]
Chr3:148891513 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2888-13C>A single nucleotide variant not provided [RCV003719541] Chr3:149172082 [GRCh38]
Chr3:148889869 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+15G>A single nucleotide variant not provided [RCV003818921] Chr3:149141395 [GRCh38]
Chr3:148859182 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.675A>T (p.Pro225=) single nucleotide variant not provided [RCV003705810] Chr3:149140461 [GRCh38]
Chr3:148858248 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2482-7G>C single nucleotide variant not provided [RCV003718756] Chr3:149163835 [GRCh38]
Chr3:148881622 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2706del (p.Glu903fs) deletion not provided [RCV003711226] Chr3:149167148 [GRCh38]
Chr3:148884935 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2292+12T>C single nucleotide variant not provided [RCV003737957] Chr3:149162345 [GRCh38]
Chr3:148880132 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.884+19T>G single nucleotide variant not provided [RCV003870242] Chr3:149141207 [GRCh38]
Chr3:148858994 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2481+12G>T single nucleotide variant not provided [RCV003729277] Chr3:149162890 [GRCh38]
Chr3:148880677 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.610T>C (p.Leu204=) single nucleotide variant not provided [RCV003685575] Chr3:149140396 [GRCh38]
Chr3:148858183 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+18C>G single nucleotide variant not provided [RCV003820414] Chr3:149129958 [GRCh38]
Chr3:148847745 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2817G>T (p.Leu939=) single nucleotide variant not provided [RCV003719024] Chr3:149167913 [GRCh38]
Chr3:148885700 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.207C>T (p.Tyr69=) single nucleotide variant not provided [RCV003685911] Chr3:149129930 [GRCh38]
Chr3:148847717 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1482C>T (p.Ile494=) single nucleotide variant not provided [RCV003729361] Chr3:149155188 [GRCh38]
Chr3:148872975 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1245+15A>G single nucleotide variant not provided [RCV003846622] Chr3:149150695 [GRCh38]
Chr3:148868482 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1018C>T (p.Leu340=) single nucleotide variant not provided [RCV003868537] Chr3:149145401 [GRCh38]
Chr3:148863188 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1164-16G>C single nucleotide variant not provided [RCV003722544] Chr3:149150583 [GRCh38]
Chr3:148868370 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.297T>C (p.Thr99=) single nucleotide variant not provided [RCV003869211] Chr3:149140083 [GRCh38]
Chr3:148857870 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1692-8C>G single nucleotide variant not provided [RCV003563211] Chr3:149158658 [GRCh38]
Chr3:148876445 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.309T>C (p.Arg103=) single nucleotide variant not provided [RCV003722860] Chr3:149140095 [GRCh38]
Chr3:148857882 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.210C>T (p.Ser70=) single nucleotide variant not provided [RCV003722864] Chr3:149129933 [GRCh38]
Chr3:148847720 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2590-2A>T single nucleotide variant not provided [RCV003706476] Chr3:149167032 [GRCh38]
Chr3:148884819 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2887+12T>A single nucleotide variant not provided [RCV003723064] Chr3:149167995 [GRCh38]
Chr3:148885782 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2590-8G>A single nucleotide variant not provided [RCV003563652] Chr3:149167026 [GRCh38]
Chr3:148884813 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1280dup (p.Leu427fs) duplication not provided [RCV003863626] Chr3:149153525..149153526 [GRCh38]
Chr3:148871312..148871313 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1401-17C>G single nucleotide variant not provided [RCV003721824] Chr3:149155090 [GRCh38]
Chr3:148872877 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2018C>A (p.Ser673Ter) single nucleotide variant not provided [RCV003858493] Chr3:149160191 [GRCh38]
Chr3:148877978 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.657G>A (p.Glu219=) single nucleotide variant not provided [RCV003678914] Chr3:149140443 [GRCh38]
Chr3:148858230 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+17A>G single nucleotide variant not provided [RCV003731563] Chr3:149141397 [GRCh38]
Chr3:148859184 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.165G>A (p.Arg55=) single nucleotide variant not provided [RCV003865908] Chr3:149129888 [GRCh38]
Chr3:148847675 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.831G>A (p.Thr277=) single nucleotide variant not provided [RCV003684340] Chr3:149141135 [GRCh38]
Chr3:148858922 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2498A>T (p.His833Leu) single nucleotide variant not provided [RCV003868838] Chr3:149163858 [GRCh38]
Chr3:148881645 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1549A>C (p.Ser517Arg) single nucleotide variant not provided [RCV003712415] Chr3:149157389 [GRCh38]
Chr3:148875176 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1246-24_1246-7del deletion not provided [RCV003563051] Chr3:149153467..149153484 [GRCh38]
Chr3:148871254..148871271 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2888-12T>C single nucleotide variant not provided [RCV003718658] Chr3:149172083 [GRCh38]
Chr3:148889870 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2589+20T>A single nucleotide variant not provided [RCV003567479] Chr3:149163969 [GRCh38]
Chr3:148881756 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1329C>T (p.Asn443=) single nucleotide variant not provided [RCV003556958] Chr3:149153577 [GRCh38]
Chr3:148871364 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.177C>A (p.Ser59=) single nucleotide variant not provided [RCV003552628] Chr3:149129900 [GRCh38]
Chr3:148847687 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.58C>T (p.Leu20=) single nucleotide variant not provided [RCV003711333] Chr3:149129781 [GRCh38]
Chr3:148847568 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1163+17A>G single nucleotide variant not provided [RCV003841667] Chr3:149145563 [GRCh38]
Chr3:148863350 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2481+1G>A single nucleotide variant not provided [RCV003848757] Chr3:149162879 [GRCh38]
Chr3:148880666 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1873-13G>T single nucleotide variant not provided [RCV003706160] Chr3:149160033 [GRCh38]
Chr3:148877820 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.712+14T>C single nucleotide variant not provided [RCV003712092] Chr3:149140512 [GRCh38]
Chr3:148858299 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2697A>G (p.Thr899=) single nucleotide variant not provided [RCV003820699] Chr3:149167141 [GRCh38]
Chr3:148884928 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.402G>A (p.Glu134=) single nucleotide variant not provided [RCV003732517] Chr3:149140188 [GRCh38]
Chr3:148857975 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1246-15A>G single nucleotide variant not provided [RCV003542717] Chr3:149153479 [GRCh38]
Chr3:148871266 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.408C>T (p.Pro136=) single nucleotide variant not provided [RCV003565841] Chr3:149140194 [GRCh38]
Chr3:148857981 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1509+16T>A single nucleotide variant not provided [RCV003670720] Chr3:149155231 [GRCh38]
Chr3:148873018 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2107-11C>T single nucleotide variant not provided [RCV003567885] Chr3:149162137 [GRCh38]
Chr3:148879924 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.970+18G>A single nucleotide variant not provided [RCV003564828] Chr3:149141398 [GRCh38]
Chr3:148859185 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.217+18C>T single nucleotide variant not provided [RCV003677235] Chr3:149129958 [GRCh38]
Chr3:148847745 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2278_2279del (p.Asp760fs) deletion not provided [RCV003706504] Chr3:149162318..149162319 [GRCh38]
Chr3:148880105..148880106 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.1246-19T>C single nucleotide variant not provided [RCV003846685] Chr3:149153475 [GRCh38]
Chr3:148871262 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2637C>A (p.Phe879Leu) single nucleotide variant not provided [RCV003733050] Chr3:149167081 [GRCh38]
Chr3:148884868 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2888-4A>G single nucleotide variant not provided [RCV003677483] Chr3:149172091 [GRCh38]
Chr3:148889878 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2517A>G (p.Pro839=) single nucleotide variant not provided [RCV003681786] Chr3:149163877 [GRCh38]
Chr3:148881664 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.684C>T (p.Thr228=) single nucleotide variant not provided [RCV003564160] Chr3:149140470 [GRCh38]
Chr3:148858257 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2797-4A>T single nucleotide variant not provided [RCV003705859] Chr3:149167889 [GRCh38]
Chr3:148885676 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.945C>A (p.Leu315=) single nucleotide variant not provided [RCV003563954] Chr3:149141355 [GRCh38]
Chr3:148859142 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2293-9G>C single nucleotide variant not provided [RCV003555054] Chr3:149162681 [GRCh38]
Chr3:148880468 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.1245+13T>G single nucleotide variant not provided [RCV003568680] Chr3:149150693 [GRCh38]
Chr3:148868480 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.267T>C (p.Arg89=) single nucleotide variant not provided [RCV003711161] Chr3:149140053 [GRCh38]
Chr3:148857840 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.132C>T (p.Phe44=) single nucleotide variant HPS3-related disorder [RCV003899332] Chr3:149129855 [GRCh38]
Chr3:148847642 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2245C>T (p.Gln749Ter) single nucleotide variant HPS3-related disorder [RCV003911369] Chr3:149162286 [GRCh38]
Chr3:148880073 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1172T>C (p.Leu391Pro) single nucleotide variant Inborn genetic diseases [RCV004402199] Chr3:149150607 [GRCh38]
Chr3:148868394 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1700C>T (p.Ser567Phe) single nucleotide variant Inborn genetic diseases [RCV004402200] Chr3:149158674 [GRCh38]
Chr3:148876461 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1868A>G (p.Asn623Ser) single nucleotide variant Inborn genetic diseases [RCV004402201] Chr3:149158842 [GRCh38]
Chr3:148876629 [GRCh37]
Chr3:3q24		 likely benign
NM_032383.5(HPS3):c.2033T>G (p.Leu678Trp) single nucleotide variant Inborn genetic diseases [RCV004402202] Chr3:149160206 [GRCh38]
Chr3:148877993 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2244G>T (p.Leu748Phe) single nucleotide variant Inborn genetic diseases [RCV004402203] Chr3:149162285 [GRCh38]
Chr3:148880072 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.425G>T (p.Cys142Phe) single nucleotide variant Inborn genetic diseases [RCV004402208] Chr3:149140211 [GRCh38]
Chr3:148857998 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.530G>A (p.Arg177His) single nucleotide variant Inborn genetic diseases [RCV004402209] Chr3:149140316 [GRCh38]
Chr3:148858103 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.892G>C (p.Ala298Pro) single nucleotide variant Inborn genetic diseases [RCV004402210] Chr3:149141302 [GRCh38]
Chr3:148859089 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.932A>G (p.Lys311Arg) single nucleotide variant Inborn genetic diseases [RCV004402211] Chr3:149141342 [GRCh38]
Chr3:148859129 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1500C>A (p.Tyr500Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV004576725] Chr3:149155206 [GRCh38]
Chr3:148872993 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.502G>T (p.Glu168Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV004576727] Chr3:149140288 [GRCh38]
Chr3:148858075 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.970+1G>A single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV004576733] Chr3:149141381 [GRCh38]
Chr3:148859168 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2372_2373del (p.Pro791fs) deletion Hermansky-Pudlak syndrome 3 [RCV004576726] Chr3:149162769..149162770 [GRCh38]
Chr3:148880556..148880557 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2813_2814del (p.Lys938fs) deletion Hermansky-Pudlak syndrome 3 [RCV004576730] Chr3:149167905..149167906 [GRCh38]
Chr3:148885692..148885693 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1154del (p.Val385fs) deletion Hermansky-Pudlak syndrome 3 [RCV004576735] Chr3:149145537 [GRCh38]
Chr3:148863324 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1179T>A (p.Cys393Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV004576736] Chr3:149150614 [GRCh38]
Chr3:148868401 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.1102C>T (p.Gln368Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV004576728] Chr3:149145485 [GRCh38]
Chr3:148863272 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.995dup (p.Asn332fs) duplication Hermansky-Pudlak syndrome 3 [RCV004576731] Chr3:149145372..149145373 [GRCh38]
Chr3:148863159..148863160 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2766del (p.Pro921_Tyr922insTer) deletion Hermansky-Pudlak syndrome 3 [RCV004576732] Chr3:149167210 [GRCh38]
Chr3:148884997 [GRCh37]
Chr3:3q24		 likely pathogenic
NM_032383.5(HPS3):c.2766T>G (p.Tyr922Ter) single nucleotide variant Hermansky-Pudlak syndrome 3 [RCV004576734] Chr3:149167210 [GRCh38]
Chr3:148884997 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.2315A>G (p.Asp772Gly) single nucleotide variant Inborn genetic diseases [RCV004402204] Chr3:149162712 [GRCh38]
Chr3:148880499 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2747C>T (p.Pro916Leu) single nucleotide variant Inborn genetic diseases [RCV004402205] Chr3:149167191 [GRCh38]
Chr3:148884978 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.344G>T (p.Gly115Val) single nucleotide variant Inborn genetic diseases [RCV004402206] Chr3:149140130 [GRCh38]
Chr3:148857917 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.386A>C (p.Glu129Ala) single nucleotide variant Inborn genetic diseases [RCV004402207] Chr3:149140172 [GRCh38]
Chr3:148857959 [GRCh37]
Chr3:3q24		 uncertain significance
NC_000003.11:g.(?_148888289)_(148904456_?)del deletion Deficiency of ferroxidase [RCV004582161] Chr3:148888289..148904456 [GRCh37]
Chr3:3q24-25.1		 likely pathogenic
NC_000003.11:g.(?_148447967)_(149678891_?)del deletion Deficiency of ferroxidase [RCV004582159] Chr3:148447967..149678891 [GRCh37]
Chr3:3q24-25.1		 pathogenic
NC_000003.11:g.(?_148868366)_(148868487_?)del deletion not provided [RCV004582331] Chr3:148868366..148868487 [GRCh37]
Chr3:3q24		 pathogenic
NC_000003.11:g.(?_148857771)_(148873022_?)dup duplication not provided [RCV004582334] Chr3:148857771..148873022 [GRCh37]
Chr3:3q24		 likely pathogenic
NC_000003.11:g.(?_148856983)_(148858810_?)del deletion not provided [RCV004582337] Chr3:148856983..148858810 [GRCh37]
Chr3:3q24		 likely pathogenic
NC_000003.11:g.(?_148872874)_(148873022_?)del deletion not provided [RCV004582332] Chr3:148872874..148873022 [GRCh37]
Chr3:3q24		 pathogenic
NC_000003.11:g.(?_148847501)_(148888270_?)del deletion not provided [RCV004582333] Chr3:148847501..148888270 [GRCh37]
Chr3:3q24		 pathogenic
NC_000003.11:g.(?_148838832)_(148847724_?)del deletion not provided [RCV004582336] Chr3:148838832..148847724 [GRCh37]
Chr3:3q24		 pathogenic
NM_032383.5(HPS3):c.449T>A (p.Val150Asp) single nucleotide variant not specified [RCV004699690] Chr3:149140235 [GRCh38]
Chr3:148858022 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2312A>G (p.Glu771Gly) single nucleotide variant Inborn genetic diseases [RCV004633076] Chr3:149162709 [GRCh38]
Chr3:148880496 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.208A>G (p.Ser70Gly) single nucleotide variant Inborn genetic diseases [RCV004633077] Chr3:149129931 [GRCh38]
Chr3:148847718 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2824G>A (p.Glu942Lys) single nucleotide variant Inborn genetic diseases [RCV004633078] Chr3:149167920 [GRCh38]
Chr3:148885707 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1312A>G (p.Ile438Val) single nucleotide variant Inborn genetic diseases [RCV004633079] Chr3:149153560 [GRCh38]
Chr3:148871347 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1211G>A (p.Arg404His) single nucleotide variant not specified [RCV004691069] Chr3:149150646 [GRCh38]
Chr3:148868433 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.2290A>C (p.Lys764Gln) single nucleotide variant not specified [RCV004702902] Chr3:149162331 [GRCh38]
Chr3:148880118 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.448G>T (p.Val150Phe) single nucleotide variant HPS3-related disorder [RCV004747802] Chr3:149140234 [GRCh38]
Chr3:148858021 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.142G>C (p.Gly48Arg) single nucleotide variant not specified [RCV004702787] Chr3:149129865 [GRCh38]
Chr3:148847652 [GRCh37]
Chr3:3q24		 uncertain significance
NM_032383.5(HPS3):c.1153_1160del (p.Val385fs) deletion Hermansky-Pudlak syndrome 3 [RCV004764547] Chr3:149145534..149145541 [GRCh38]
Chr3:148863321..148863328 [GRCh37]
Chr3:3q24		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1348
Count of miRNA genes:751
Interacting mature miRNAs:845
Transcripts:ENST00000296051, ENST00000460120, ENST00000460822, ENST00000462030, ENST00000478525, ENST00000486530, ENST00000494327
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407291201GWAS940177_Hbody height QTL GWAS940177 (human)4e-22body height (VT:0001253)body height (CMO:0000106)3149150201149150202Human
407308639GWAS957615_Hhistidine measurement QTL GWAS957615 (human)7e-23histidine measurementblood amino acid measurement (CMO:0003730)3149155392149155393Human
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
407291199GWAS940175_Hbody height QTL GWAS940175 (human)1e-28body height (VT:0001253)body height (CMO:0000106)3149139927149139928Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human
407116025GWAS765001_Hmean corpuscular volume QTL GWAS765001 (human)4e-12mean corpuscular volumemean corpuscular volume (CMO:0000038)3149132024149132025Human

Markers in Region
SHGC-81259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,857,730 - 148,858,041UniSTSGRCh37
Build 363150,340,420 - 150,340,731RGDNCBI36
Celera3147,268,255 - 147,268,566RGD
Cytogenetic Map3q24UniSTS
HuRef3146,229,017 - 146,229,328UniSTS
TNG Radiation Hybrid Map383913.0UniSTS
D3S3906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,998 - 92,171,204UniSTSGRCh37
GRCh373148,891,278 - 148,891,484UniSTSGRCh37
Build 363150,373,968 - 150,374,174RGDNCBI36
Celera888,365,312 - 88,365,518UniSTS
Celera3147,301,800 - 147,302,006RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
Cytogenetic Map3q24UniSTS
HuRef887,382,237 - 87,382,443UniSTS
HuRef3146,262,569 - 146,262,775UniSTS
Whitehead-YAC Contig Map3 UniSTS
RH46381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,871,689 - 148,871,792UniSTSGRCh37
Build 363150,354,379 - 150,354,482RGDNCBI36
Celera3147,282,214 - 147,282,317RGD
Cytogenetic Map3q24UniSTS
HuRef3146,242,974 - 146,243,077UniSTS
GeneMap99-GB4 RH Map3535.17UniSTS
SHGC-77441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,891,123 - 148,891,253UniSTSGRCh37
Build 363150,373,813 - 150,373,943RGDNCBI36
Celera3147,301,645 - 147,301,775RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map3q24UniSTS
HuRef3146,262,414 - 146,262,544UniSTS
TNG Radiation Hybrid Map383905.0UniSTS
GeneMap99-GB4 RH Map3542.39UniSTS
SHGC-77445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,890,575 - 148,890,682UniSTSGRCh37
Build 363150,373,265 - 150,373,372RGDNCBI36
Celera3147,301,097 - 147,301,204RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map3q24UniSTS
HuRef3146,261,866 - 146,261,973UniSTS
TNG Radiation Hybrid Map383905.0UniSTS
GeneMap99-GB4 RH Map3542.39UniSTS
NCBI RH Map31246.5UniSTS
MARC_21131-21132:1046275169:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,858,010 - 148,858,932UniSTSGRCh37
Build 363150,340,700 - 150,341,622RGDNCBI36
Celera3147,268,535 - 147,269,457RGD
HuRef3146,229,297 - 146,230,219UniSTS
HPS3__6583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,889,996 - 148,890,893UniSTSGRCh37
Build 363150,372,686 - 150,373,583RGDNCBI36
Celera3147,300,519 - 147,301,415RGD
HuRef3146,261,287 - 146,262,184UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_924201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF375663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY033141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG618578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB241738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000296051   ⟹   ENSP00000296051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3149,129,638 - 149,173,732 (+)Ensembl
Ensembl Acc Id: ENST00000460120   ⟹   ENSP00000418230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3149,129,638 - 149,172,361 (+)Ensembl
Ensembl Acc Id: ENST00000460822   ⟹   ENSP00000419824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3149,160,046 - 149,172,961 (+)Ensembl
Ensembl Acc Id: ENST00000462030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3149,129,638 - 149,154,135 (+)Ensembl
Ensembl Acc Id: ENST00000478525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3149,167,215 - 149,168,467 (+)Ensembl
Ensembl Acc Id: ENST00000486530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3149,129,691 - 149,154,109 (+)Ensembl
Ensembl Acc Id: ENST00000494327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3149,129,639 - 149,130,451 (+)Ensembl
RefSeq Acc Id: NM_001308258   ⟹   NP_001295187
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,129,638 - 149,173,732 (+)NCBI
CHM1_13148,810,445 - 148,854,056 (+)NCBI
T2T-CHM13v2.03151,880,375 - 151,924,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032383   ⟹   NP_115759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,129,638 - 149,173,732 (+)NCBI
GRCh373148,847,371 - 148,891,305 (+)ENTREZGENE
GRCh373148,847,371 - 148,891,305 (+)NCBI
Build 363150,330,061 - 150,373,995 (+)NCBI Archive
HuRef3146,218,659 - 146,262,596 (+)ENTREZGENE
CHM1_13148,810,445 - 148,854,056 (+)NCBI
T2T-CHM13v2.03151,880,375 - 151,924,479 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005247834   ⟹   XP_005247891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,129,638 - 149,162,765 (+)NCBI
GRCh373148,847,371 - 148,891,305 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449064   ⟹   XP_047305020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,129,638 - 149,167,983 (+)NCBI
RefSeq Acc Id: XM_054348091   ⟹   XP_054204066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03151,880,375 - 151,918,721 (+)NCBI
RefSeq Acc Id: XM_054348092   ⟹   XP_054204067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03151,880,375 - 151,913,505 (+)NCBI
RefSeq Acc Id: XR_001740328
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,129,638 - 149,167,983 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008486843
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03151,880,375 - 151,918,721 (+)NCBI
RefSeq Acc Id: NP_115759   ⟸   NM_032383
- Peptide Label: isoform 1
- UniProtKB: Q96MR3 (UniProtKB/Swiss-Prot),   Q96AP1 (UniProtKB/Swiss-Prot),   Q8WTV6 (UniProtKB/Swiss-Prot),   A8K6G6 (UniProtKB/Swiss-Prot),   Q9H608 (UniProtKB/Swiss-Prot),   Q969F9 (UniProtKB/Swiss-Prot),   B4DPS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247891   ⟸   XM_005247834
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001295187   ⟸   NM_001308258
- Peptide Label: isoform 2
- UniProtKB: G5E9V4 (UniProtKB/TrEMBL),   B4DPS7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000296051   ⟸   ENST00000296051
Ensembl Acc Id: ENSP00000419824   ⟸   ENST00000460822
Ensembl Acc Id: ENSP00000418230   ⟸   ENST00000460120
RefSeq Acc Id: XP_047305020   ⟸   XM_047449064
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054204066   ⟸   XM_054348091
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054204067   ⟸   XM_054348092
- Peptide Label: isoform X2
Protein Domains
BLOC-2 complex member HPS3 C-terminal   BLOC-2 complex member HPS3 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969F9-F1-model_v2 AlphaFold Q969F9 1-1004 view protein structure

Promoters
RGD ID:6865952
Promoter ID:EPDNEW_H6140
Type:initiation region
Name:HPS3_1
Description:HPS3, biogenesis of lysosomal organelles complex 2 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
GRCh383149,129,652 - 149,129,712EPDNEW
RGD ID:6801127
Promoter ID:HG_KWN:46432
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032383,   UC003EWT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363150,329,846 - 150,330,346 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15597 AgrOrtholog
COSMIC HPS3 COSMIC
Ensembl Genes ENSG00000163755 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296051 ENTREZGENE
  ENST00000296051.7 UniProtKB/Swiss-Prot
  ENST00000460120 ENTREZGENE
  ENST00000460120.5 UniProtKB/TrEMBL
  ENST00000460822.1 UniProtKB/TrEMBL
GTEx ENSG00000163755 GTEx
HGNC ID HGNC:15597 ENTREZGENE
Human Proteome Map HPS3 Human Proteome Map
InterPro HPS3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HPS3_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HPS3_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84343 UniProtKB/Swiss-Prot
NCBI Gene 84343 ENTREZGENE
OMIM 606118 OMIM
PANTHER HERMANSKY-PUDLAK SYNDROME 3 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR28633 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HPS3_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HPS3_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29433 PharmGKB
PIRSF BLOC-2_complex_Hps3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K6G6 ENTREZGENE
  B4DPS7 ENTREZGENE, UniProtKB/TrEMBL
  G5E9V4 ENTREZGENE, UniProtKB/TrEMBL
  H7C5G2_HUMAN UniProtKB/TrEMBL
  HPS3_HUMAN UniProtKB/Swiss-Prot
  L8EBA6_HUMAN UniProtKB/TrEMBL
  L8ECL2_HUMAN UniProtKB/TrEMBL
  Q8WTV6 ENTREZGENE
  Q969F9 ENTREZGENE
  Q96AP1 ENTREZGENE
  Q96MR3 ENTREZGENE
  Q9H608 ENTREZGENE
UniProt Secondary A8K6G6 UniProtKB/Swiss-Prot
  Q8WTV6 UniProtKB/Swiss-Prot
  Q96AP1 UniProtKB/Swiss-Prot
  Q96MR3 UniProtKB/Swiss-Prot
  Q9H608 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 HPS3  HPS3 biogenesis of lysosomal organelles complex 2 subunit 1  HPS3  HPS3, biogenesis of lysosomal organelles complex 2 subunit 1  Symbol and/or name change 5135510 APPROVED
2019-01-29 HPS3  HPS3 biogenesis of lysosomal organelles complex 2 subunit 1  HPS3  HPS3, biogenesis of lysosomal organelles complex 2 subunit 1  Symbol and/or name change 5135510 APPROVED
2016-02-29 HPS3  HPS3, biogenesis of lysosomal organelles complex 2 subunit 1  HPS3  Hermansky-Pudlak syndrome 3  Symbol and/or name change 5135510 APPROVED
2016-02-29 HPS3  HPS3, biogenesis of lysosomal organelles complex 2 subunit 1  HPS3  Hermansky-Pudlak syndrome 3  Symbol and/or name change 5135510 APPROVED