HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2) - Rat Genome Database

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Gene: HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2) Homo sapiens
Analyze
Symbol: HPS4
Name: HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
RGD ID: 1317629
HGNC Page HGNC:15844
Description: Enables protein homodimerization activity and small GTPase binding activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in several processes, including lysosome organization; melanosome assembly; and protein stabilization. Located in several cellular components, including BLOC-3 complex; cytoplasmic vesicle; and lysosome. Implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 4; and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bK1048E9.4; bK1048E9.5; BLOC-3 complex member HPS4; BLOC3S2; Hermansky-Pudlak syndrome 4; HPS4, biogenesis of lysosomal organelles complex 3 subunit 2; KIAA1667; LE; light-ear protein homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382226,443,109 - 26,483,863 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2226,443,107 - 26,483,931 (-)EnsemblGRCh38hg38GRCh38
GRCh372226,839,075 - 26,879,829 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362225,177,446 - 25,209,820 (-)NCBINCBI36Build 36hg18NCBI36
Build 342225,171,999 - 25,204,374NCBI
Celera2210,651,342 - 10,683,694 (-)NCBICelera
Cytogenetic Map22q12.1NCBI
HuRef229,794,422 - 9,827,382 (-)NCBIHuRef
CHM1_12226,806,304 - 26,839,247 (-)NCBICHM1_1
T2T-CHM13v2.02226,905,547 - 26,946,273 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Anderson PD, etal., Hum Genet. 2003 Jul;113(1):10-7. Epub 2003 Mar 27.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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
7. An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. Saito A, etal., Psychiatr Genet. 2013 Aug;23(4):163-73. doi: 10.1097/YPG.0b013e32836130a9.
8. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Suzuki T, etal., Nat Genet. 2002 Mar;30(3):321-4. Epub 2002 Feb 11.
Additional References at PubMed
PMID:8889548   PMID:10591208   PMID:11258795   PMID:12477932   PMID:12529303   PMID:12663659   PMID:12756248   PMID:12847290   PMID:14702039   PMID:15108212   PMID:15461802   PMID:15489334  
PMID:15941405   PMID:16420244   PMID:16431308   PMID:17365864   PMID:18463683   PMID:19684574   PMID:20048159   PMID:20301464   PMID:20936779   PMID:21833017   PMID:21873635   PMID:23084991  
PMID:23174301   PMID:24168225   PMID:24270810   PMID:35563538   PMID:35914814   PMID:37689310  


Genomics

Comparative Map Data
HPS4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382226,443,109 - 26,483,863 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2226,443,107 - 26,483,931 (-)EnsemblGRCh38hg38GRCh38
GRCh372226,839,075 - 26,879,829 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362225,177,446 - 25,209,820 (-)NCBINCBI36Build 36hg18NCBI36
Build 342225,171,999 - 25,204,374NCBI
Celera2210,651,342 - 10,683,694 (-)NCBICelera
Cytogenetic Map22q12.1NCBI
HuRef229,794,422 - 9,827,382 (-)NCBIHuRef
CHM1_12226,806,304 - 26,839,247 (-)NCBICHM1_1
T2T-CHM13v2.02226,905,547 - 26,946,273 (-)NCBIT2T-CHM13v2.0
Hps4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395112,490,849 - 112,526,290 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5112,490,949 - 112,526,280 (+)EnsemblGRCm39 Ensembl
GRCm385112,342,983 - 112,378,424 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5112,343,083 - 112,378,414 (+)EnsemblGRCm38mm10GRCm38
MGSCv375112,772,115 - 112,807,444 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365112,585,083 - 112,618,716 (+)NCBIMGSCv36mm8
Celera5109,463,044 - 109,498,400 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map554.69NCBI
Hps4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81249,924,444 - 49,955,201 (-)NCBIGRCr8
mRatBN7.21244,264,037 - 44,294,791 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1244,264,037 - 44,294,632 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1245,433,082 - 45,462,177 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01246,043,292 - 46,072,462 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01245,103,830 - 45,133,000 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01250,285,239 - 50,315,893 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1250,285,278 - 50,314,406 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01252,043,358 - 52,072,939 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41914,326,654 - 14,355,770 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11914,345,603 - 14,357,741 (+)NCBI
Celera1245,847,642 - 45,876,371 (-)NCBICelera
Cytogenetic Map12q16NCBI
Hps4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554551,049,992 - 1,073,950 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554551,048,946 - 1,076,097 (-)NCBIChiLan1.0ChiLan1.0
HPS4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22336,457,072 - 36,489,470 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12239,156,253 - 39,188,641 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0227,513,397 - 7,545,782 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12225,235,761 - 25,268,699 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2225,236,360 - 25,268,699 (-)Ensemblpanpan1.1panPan2
HPS4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12620,131,658 - 20,157,532 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2619,933,281 - 20,157,058 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2619,995,923 - 20,023,346 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02620,495,535 - 20,522,930 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2620,486,803 - 20,522,957 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12620,212,135 - 20,239,523 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02620,468,000 - 20,495,466 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02620,537,450 - 20,564,852 (-)NCBIUU_Cfam_GSD_1.0
Hps4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118114,766,390 - 114,795,406 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366571,075,261 - 1,103,055 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366571,075,300 - 1,104,328 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HPS4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1444,049,707 - 44,073,621 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11444,041,684 - 44,073,661 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21446,929,530 - 46,953,466 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HPS4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1199,356,868 - 9,387,847 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl199,356,145 - 9,386,254 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045116,717,018 - 116,748,362 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hps4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247473,005,509 - 3,032,037 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247473,004,370 - 3,033,692 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HPS4
731 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022081.6(HPS4):c.1866del (p.Thr623fs) deletion Hermansky-Pudlak syndrome 4 [RCV000020868] Chr22:26457948 [GRCh38]
Chr22:26853914 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.5(HPS4):c.2089_2093dupAAGCA (p.Lys699Serfs) duplication Hermansky-Pudlak syndrome 4 [RCV000020870] Chr22:26453267..26453271 [GRCh38]
Chr22:26849233..26849237 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.461A>G (p.His154Arg) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000020872] Chr22:26472342 [GRCh38]
Chr22:26868308 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_022081.6(HPS4):c.57dup (p.Leu20fs) duplication Hermansky-Pudlak syndrome 4 [RCV000020874] Chr22:26479339..26479340 [GRCh38]
Chr22:26875305..26875306 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000004341]|not provided [RCV003555912] Chr22:26457923 [GRCh38]
Chr22:26853889 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) microsatellite Hermansky-Pudlak syndrome 4 [RCV000004342] Chr22:26453266..26453267 [GRCh38]
Chr22:26849232..26849233 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.57del (p.Leu20fs) deletion Hermansky-Pudlak syndrome 4 [RCV000004343] Chr22:26479340 [GRCh38]
Chr22:26875306 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000004344] Chr22:26470774 [GRCh38]
Chr22:26866740 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) duplication Hermansky-Pudlak syndrome 4 [RCV000004345]|not provided [RCV001851643]|not specified [RCV003488323] Chr22:26464657..26464658 [GRCh38]
Chr22:26860623..26860624 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) single nucleotide variant Albinism [RCV002227015]|Hermansky-Pudlak syndrome 4 [RCV000004346]|not provided [RCV001851644] Chr22:26468571 [GRCh38]
Chr22:26864537 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000004347] Chr22:26472391 [GRCh38]
Chr22:26868357 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000004348] Chr22:26468556 [GRCh38]
Chr22:26864522 [GRCh37]
Chr22:22q12.1		 pathogenic
HPS4, 1-BP DEL, C, CODON 685 deletion Hermansky-Pudlak syndrome 4 [RCV000004349] Chr22:22q11.2-q12.2 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1 copy number loss See cases [RCV000052869] Chr22:26221273..29477543 [GRCh38]
Chr22:26617239..29873532 [GRCh37]
Chr22:24947239..28203532 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_022081.6(HPS4):c.*5C>T single nucleotide variant HPS4-related condition [RCV003937567]|not provided [RCV000174794] Chr22:26453228 [GRCh38]
Chr22:26849194 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1 copy number loss See cases [RCV000134954] Chr22:25003092..28634004 [GRCh38]
Chr22:25399059..29029992 [GRCh37]
Chr22:23729059..27359992 [NCBI36]
Chr22:22q11.23-12.1		 likely pathogenic
GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1 copy number loss See cases [RCV000136530] Chr22:25685148..28217405 [GRCh38]
Chr22:26081115..28613393 [GRCh37]
Chr22:24411115..26943393 [NCBI36]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1 copy number loss See cases [RCV000143415] Chr22:26451042..31451926 [GRCh38]
Chr22:26847008..31847912 [GRCh37]
Chr22:25177008..30177912 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001701683]|Hermansky-Pudlak syndrome [RCV000350203]|not provided [RCV001519473]|not specified [RCV000150818] Chr22:26457939 [GRCh38]
Chr22:26853905 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001701770]|Hermansky-Pudlak syndrome [RCV000310549]|not provided [RCV001519474]|not specified [RCV000150819] Chr22:26458475 [GRCh38]
Chr22:26854441 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001701684]|Hermansky-Pudlak syndrome [RCV000267065]|not provided [RCV001519475]|not specified [RCV000150820] Chr22:26463976 [GRCh38]
Chr22:26859942 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001701619]|Hermansky-Pudlak syndrome [RCV000371919]|not provided [RCV001519476]|not specified [RCV000150821] Chr22:26464303 [GRCh38]
Chr22:26860269 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001701685]|Hermansky-Pudlak syndrome [RCV000260978]|not provided [RCV001519477]|not specified [RCV000150822] Chr22:26466246 [GRCh38]
Chr22:26862212 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.558G>A (p.Ser186=) single nucleotide variant Hermansky-Pudlak syndrome [RCV000276415]|not provided [RCV001517866]|not specified [RCV000150823] Chr22:26470757 [GRCh38]
Chr22:26866723 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) single nucleotide variant HPS4-related condition [RCV003949940]|Hermansky-Pudlak syndrome 4 [RCV000408319]|not provided [RCV000287279] Chr22:26457957 [GRCh38]
Chr22:26853923 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000625206]|Hermansky-Pudlak syndrome [RCV000386251]|not provided [RCV000970806]|not specified [RCV000193321] Chr22:26477019 [GRCh38]
Chr22:26872985 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022081.6(HPS4):c.1715A>G (p.Tyr572Cys) single nucleotide variant not specified [RCV000194232] Chr22:26458576 [GRCh38]
Chr22:26854542 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.888C>T (p.Asn296=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144817]|not provided [RCV000899089]|not specified [RCV000194530] Chr22:26464742 [GRCh38]
Chr22:26860708 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) single nucleotide variant HPS4-related condition [RCV003917752]|Hermansky-Pudlak syndrome 4 [RCV000335263]|not provided [RCV000895250]|not specified [RCV000195097] Chr22:26453281 [GRCh38]
Chr22:26849247 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_022081.6(HPS4):c.696G>A (p.Pro232=) single nucleotide variant Hermansky-Pudlak syndrome [RCV000301149]|not provided [RCV000955988]|not specified [RCV000220415] Chr22:26466236 [GRCh38]
Chr22:26862202 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV002517523]|Hermansky-Pudlak syndrome [RCV000214159]|not provided [RCV001853424] Chr22:26464498 [GRCh38]
Chr22:26860464 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000292720]|not provided [RCV000961733]|not specified [RCV000222422] Chr22:26464570 [GRCh38]
Chr22:26860536 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_022081.6(HPS4):c.2036G>A (p.Ser679Asn) single nucleotide variant Inborn genetic diseases [RCV003362806]|not provided [RCV000513824] Chr22:26453324 [GRCh38]
Chr22:26849290 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000387021]|not provided [RCV000961732]|not specified [RCV000218788] Chr22:26464569 [GRCh38]
Chr22:26860535 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_022081.6(HPS4):c.1899C>T (p.Val633=) single nucleotide variant Hermansky-Pudlak syndrome [RCV000295465]|not provided [RCV000948129]|not specified [RCV000216729] Chr22:26457915 [GRCh38]
Chr22:26853881 [GRCh37]
Chr22:22q12.1		 benign|likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_022081.6(HPS4):c.1060_1061delinsAG (p.Ser354=) indel Hermansky-Pudlak syndrome 4 [RCV000787029]|not provided [RCV002058318]|not specified [RCV000248992] Chr22:26464569..26464570 [GRCh38]
Chr22:26860535..26860536 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_022081.6(HPS4):c.42-49G>A single nucleotide variant not provided [RCV001640571]|not specified [RCV000241783] Chr22:26479404 [GRCh38]
Chr22:26875370 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.707-28T>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001701911]|not provided [RCV001689914]|not specified [RCV000247054] Chr22:26465579 [GRCh38]
Chr22:26861545 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1847-47A>G single nucleotide variant not provided [RCV001689913]|not specified [RCV000254291] Chr22:26458014 [GRCh38]
Chr22:26853980 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.706+39G>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001701975]|not provided [RCV001534215]|not specified [RCV000242260] Chr22:26466187 [GRCh38]
Chr22:26862153 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1962C>T (p.Ala654=) single nucleotide variant not provided [RCV000955598]|not specified [RCV000244852] Chr22:26453398 [GRCh38]
Chr22:26849364 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000624933]|Hermansky-Pudlak syndrome [RCV000340421]|not provided [RCV000968793]|not specified [RCV000252221] Chr22:26465548 [GRCh38]
Chr22:26861514 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
NM_022081.6(HPS4):c.1956-32T>C single nucleotide variant not specified [RCV000253070] Chr22:26453436 [GRCh38]
Chr22:26849402 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1641C>T (p.Cys547=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000301906]|not provided [RCV002523212] Chr22:26463989 [GRCh38]
Chr22:26859955 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000856673]|Hermansky-Pudlak syndrome [RCV000304315]|Oculocutaneous albinism [RCV000767301]|not provided [RCV000950297]|not specified [RCV000614234] Chr22:26465507 [GRCh38]
Chr22:26861473 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_022081.5(HPS4):c.-661G>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000269285] Chr22:26483856 [GRCh38]
Chr22:26879822 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.*1253G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000277423] Chr22:26451980 [GRCh38]
Chr22:26847946 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000261961]|not provided [RCV001861197] Chr22:26464095 [GRCh38]
Chr22:26860061 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1692C>T (p.Asp564=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000307056]|not provided [RCV003105875] Chr22:26463938 [GRCh38]
Chr22:26859904 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.687G>A (p.Glu229=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000355984]|not provided [RCV002523214] Chr22:26466245 [GRCh38]
Chr22:26862211 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.*1589C>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000356707] Chr22:26451644 [GRCh38]
Chr22:26847610 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) single nucleotide variant Hermansky-Pudlak syndrome [RCV000356763]|not provided [RCV000596727]|not specified [RCV003987515] Chr22:26464087 [GRCh38]
Chr22:26860053 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022081.6(HPS4):c.1222G>A (p.Ala408Thr) single nucleotide variant HPS4-related condition [RCV003417880]|not provided [RCV000374064] Chr22:26464408 [GRCh38]
Chr22:26860374 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1236_*1237insTAA insertion Hermansky-Pudlak syndrome [RCV000281250] Chr22:26451996..26451997 [GRCh38]
Chr22:26847962..26847963 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.5(HPS4):c.-660C>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000366373] Chr22:26483855 [GRCh38]
Chr22:26879821 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-585T>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000367738] Chr22:26483780 [GRCh38]
Chr22:26879746 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.1680G>A (p.Pro560=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000361688]|not provided [RCV000916058] Chr22:26463950 [GRCh38]
Chr22:26859916 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.*1207_*1227delinsCGC indel Hermansky-Pudlak syndrome [RCV000271947] Chr22:26452006..26452026 [GRCh38]
Chr22:26847972..26847992 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000277365]|Inborn genetic diseases [RCV003243097]|not provided [RCV001861198] Chr22:26464398 [GRCh38]
Chr22:26860364 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.*1229C>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000315194] Chr22:26452004 [GRCh38]
Chr22:26847970 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-554C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000315300] Chr22:26483749 [GRCh38]
Chr22:26879715 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000625205]|Inborn genetic diseases [RCV003258729]|not provided [RCV000896719]|not specified [RCV000379670] Chr22:26457931 [GRCh38]
Chr22:26853897 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022081.6(HPS4):c.*197G>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000280180] Chr22:26453036 [GRCh38]
Chr22:26849002 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000317159] Chr22:26464151 [GRCh38]
Chr22:26860117 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.177A>C (p.Gly59=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000273073]|not provided [RCV003669136] Chr22:26477092 [GRCh38]
Chr22:26873058 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.*1227T>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000327124] Chr22:26452006 [GRCh38]
Chr22:26847972 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-253C>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000282737]|not provided [RCV001643040] Chr22:26482015 [GRCh38]
Chr22:26877981 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.*1229CG[7] microsatellite Hermansky-Pudlak syndrome [RCV000273819] Chr22:26451987..26451990 [GRCh38]
Chr22:26847953..26847956 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*751G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000377220] Chr22:26452482 [GRCh38]
Chr22:26848448 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.5(HPS4):c.-662G>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000326649] Chr22:26483857 [GRCh38]
Chr22:26879823 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.81G>A (p.Lys27=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000328283]|not provided [RCV000892347] Chr22:26479316 [GRCh38]
Chr22:26875282 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.15C>T (p.Thr5=) single nucleotide variant HPS4-related condition [RCV003910337]|Hermansky-Pudlak syndrome 4 [RCV000382812]|not provided [RCV001516588] Chr22:26481748 [GRCh38]
Chr22:26877714 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_022081.6(HPS4):c.373C>G (p.Leu125Val) single nucleotide variant Hermansky-Pudlak syndrome [RCV000331521]|not provided [RCV002057797]|not specified [RCV000500760] Chr22:26472843 [GRCh38]
Chr22:26868809 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.-42A>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000288450] Chr22:26481804 [GRCh38]
Chr22:26877770 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000289103]|not provided [RCV001354952] Chr22:26464708 [GRCh38]
Chr22:26860674 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.1192A>C (p.Arg398=) single nucleotide variant HPS4-related condition [RCV003910336]|Hermansky-Pudlak syndrome 4 [RCV000332464]|not provided [RCV000909100] Chr22:26464438 [GRCh38]
Chr22:26860404 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.*1250C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000331927] Chr22:26451983 [GRCh38]
Chr22:26847949 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
NM_022081.6(HPS4):c.*1229CG[6] microsatellite Hermansky-Pudlak syndrome [RCV000383416] Chr22:26451987..26451992 [GRCh38]
Chr22:26847953..26847958 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.931C>A (p.Pro311Thr) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000383481]|Inborn genetic diseases [RCV002523213]|not provided [RCV001865244] Chr22:26464699 [GRCh38]
Chr22:26860665 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-185A>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000379449] Chr22:26481947 [GRCh38]
Chr22:26877913 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.*1229CG[4] microsatellite Hermansky-Pudlak syndrome [RCV000288999] Chr22:26451987..26451996 [GRCh38]
Chr22:26847953..26847962 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1959T>C (p.Asn653=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000389685]|not provided [RCV001470205] Chr22:26453401 [GRCh38]
Chr22:26849367 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.2000A>G (p.Glu667Gly) single nucleotide variant not provided [RCV000322391] Chr22:26453360 [GRCh38]
Chr22:26849326 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1227_*1236del deletion Hermansky-Pudlak syndrome [RCV000336030] Chr22:26451997..26452006 [GRCh38]
Chr22:26847963..26847972 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.706+15G>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000391306] Chr22:26466211 [GRCh38]
Chr22:26862177 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1613C>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000391541] Chr22:26451620 [GRCh38]
Chr22:26847586 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.*1762G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000391535] Chr22:26451471 [GRCh38]
Chr22:26847437 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-530A>G single nucleotide variant Hermansky-Pudlak syndrome [RCV000393730] Chr22:26483725 [GRCh38]
Chr22:26879691 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.*1231C>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000393815] Chr22:26452002 [GRCh38]
Chr22:26847968 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) single nucleotide variant HPS4-related condition [RCV003969984]|Hermansky-Pudlak syndrome 4 [RCV000408332]|not provided [RCV000878999]|not specified [RCV000598107] Chr22:26463930 [GRCh38]
Chr22:26859896 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022081.6(HPS4):c.*1687A>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000341662] Chr22:26451546 [GRCh38]
Chr22:26847512 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
NM_022081.6(HPS4):c.-296T>C single nucleotide variant Hermansky-Pudlak syndrome [RCV000337758]|not provided [RCV001683360] Chr22:26482058 [GRCh38]
Chr22:26878024 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.617C>T (p.Pro206Leu) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000297686]|not provided [RCV001861199] Chr22:26468603 [GRCh38]
Chr22:26864569 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-395A>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000399780] Chr22:26482157 [GRCh38]
Chr22:26878123 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000346739]|Inborn genetic diseases [RCV002520041]|not provided [RCV002057796] Chr22:26458544 [GRCh38]
Chr22:26854510 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
NM_022081.6(HPS4):c.958G>C (p.Asp320His) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000347605] Chr22:26464672 [GRCh38]
Chr22:26860638 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-479+5G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000279071] Chr22:26483669 [GRCh38]
Chr22:26879635 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1120C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000268595] Chr22:26452113 [GRCh38]
Chr22:26848079 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu) single nucleotide variant HPS4-related condition [RCV003909909]|not provided [RCV000370644]|not specified [RCV003479088] Chr22:26470758 [GRCh38]
Chr22:26866724 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022081.6(HPS4):c.*1223_*1238del deletion Hermansky-Pudlak syndrome [RCV000379839] Chr22:26451995..26452010 [GRCh38]
Chr22:26847961..26847976 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1237C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000398621] Chr22:26451996 [GRCh38]
Chr22:26847962 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1225T>C single nucleotide variant Hermansky-Pudlak syndrome [RCV000363130] Chr22:26452008 [GRCh38]
Chr22:26847974 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.765C>T (p.Ala255=) single nucleotide variant Hermansky-Pudlak syndrome [RCV000401405]|not provided [RCV003678996] Chr22:26465493 [GRCh38]
Chr22:26861459 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.*1207_*1227delinsC indel Hermansky-Pudlak syndrome [RCV000366438] Chr22:26452006..26452026 [GRCh38]
Chr22:26847972..26847992 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*515G>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000283844] Chr22:26452718 [GRCh38]
Chr22:26848684 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1229_*1237delinsTGT indel Hermansky-Pudlak syndrome [RCV000284691] Chr22:26451996..26452004 [GRCh38]
Chr22:26847962..26847970 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*391G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000320137] Chr22:26452842 [GRCh38]
Chr22:26848808 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1576C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000406563] Chr22:26451657 [GRCh38]
Chr22:26847623 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-523G>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000336511] Chr22:26483718 [GRCh38]
Chr22:26879684 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1191TG[20] microsatellite Hermansky-Pudlak syndrome [RCV000369847] Chr22:26452004..26452005 [GRCh38]
Chr22:26847970..26847971 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000371030] Chr22:26468612 [GRCh38]
Chr22:26864578 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1752C>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000286967] Chr22:26451481 [GRCh38]
Chr22:26847447 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.5(HPS4):c.-634C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000309305] Chr22:26483829 [GRCh38]
Chr22:26879795 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1256C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000353444] Chr22:26451977 [GRCh38]
Chr22:26847943 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1359A>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000298452] Chr22:26451874 [GRCh38]
Chr22:26847840 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1024_*1028del deletion Hermansky-Pudlak syndrome [RCV000323733] Chr22:26452205..26452209 [GRCh38]
Chr22:26848171..26848175 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1229_*1237delinsTGTGT indel Hermansky-Pudlak syndrome [RCV000339672] Chr22:26451996..26452004 [GRCh38]
Chr22:26847962..26847970 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-116C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000324888] Chr22:26481878 [GRCh38]
Chr22:26877844 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1229CG[5] microsatellite Hermansky-Pudlak syndrome [RCV000325195] Chr22:26451987..26451994 [GRCh38]
Chr22:26847953..26847960 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*369C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000374752] Chr22:26452864 [GRCh38]
Chr22:26848830 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.5(HPS4):c.-622G>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000393738] Chr22:26483817 [GRCh38]
Chr22:26879783 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1191TG[17] microsatellite Hermansky-Pudlak syndrome [RCV000393814] Chr22:26452005..26452008 [GRCh38]
Chr22:26847971..26847974 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1191TG[16] microsatellite Hermansky-Pudlak syndrome [RCV000311888] Chr22:26452005..26452010 [GRCh38]
Chr22:26847971..26847976 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1594G>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000301837] Chr22:26451639 [GRCh38]
Chr22:26847605 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1229CG[8] microsatellite Hermansky-Pudlak syndrome [RCV000328852] Chr22:26451987..26451988 [GRCh38]
Chr22:26847953..26847954 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.877C>G (p.Leu293Val) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000343957] Chr22:26464753 [GRCh38]
Chr22:26860719 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.446dup (p.Asn149fs) duplication not provided [RCV000593059] Chr22:26472356..26472357 [GRCh38]
Chr22:26868322..26868323 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala) single nucleotide variant HPS4-related condition [RCV003945396]|not provided [RCV000593448] Chr22:26481750 [GRCh38]
Chr22:26877716 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022081.6(HPS4):c.533G>T (p.Arg178Leu) single nucleotide variant not provided [RCV000595521] Chr22:26470782 [GRCh38]
Chr22:26866748 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.2040C>T (p.Ser680=) single nucleotide variant not provided [RCV000735101] Chr22:26453320 [GRCh38]
Chr22:26849286 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003461002]|not provided [RCV000728955] Chr22:26477121 [GRCh38]
Chr22:26873087 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_022081.6(HPS4):c.553C>T (p.Arg185Cys) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001151026]|not provided [RCV000594618] Chr22:26470762 [GRCh38]
Chr22:26866728 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1309C>T (p.His437Tyr) single nucleotide variant not provided [RCV000729530] Chr22:26464321 [GRCh38]
Chr22:26860287 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.1(chr22:26838242-26881031) copy number loss Abnormal esophagus morphology [RCV000416728] Chr22:26838242..26881031 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001013694.3(SRRD):c.108GAGAGAGGCGGCGCCCCGGGG[1] (p.30REAAPRG[2]) microsatellite not specified [RCV000454538] Chr22:26483981..26484001 [GRCh38]
Chr22:26879947..26879967 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.934A>G (p.Thr312Ala) single nucleotide variant not specified [RCV000502327] Chr22:26464696 [GRCh38]
Chr22:26860662 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.5:c.461A>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV000496084] Chr22:22q12.1 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3		 pathogenic
NM_022081.6(HPS4):c.226C>T (p.Arg76Cys) single nucleotide variant Inborn genetic diseases [RCV003247394] Chr22:26477043 [GRCh38]
Chr22:26873009 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1475A>C (p.Glu492Ala) single nucleotide variant Inborn genetic diseases [RCV003250218] Chr22:26464155 [GRCh38]
Chr22:26860121 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_022081.6(HPS4):c.868A>C (p.Thr290Pro) single nucleotide variant not provided [RCV000658102] Chr22:26464762 [GRCh38]
Chr22:26860728 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1102dup (p.Asp368fs) duplication Interstitial lung disease 2 [RCV000677217] Chr22:26464527..26464528 [GRCh38]
Chr22:26860493..26860494 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_022081.6(HPS4):c.133-313C>T single nucleotide variant not provided [RCV001691005] Chr22:26477449 [GRCh38]
Chr22:26873415 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1714-245del deletion not provided [RCV001585616] Chr22:26458822 [GRCh38]
Chr22:26854788 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.618G>A (p.Pro206=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147684]|not provided [RCV000916781] Chr22:26468602 [GRCh38]
Chr22:26864568 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.1714-245T>C single nucleotide variant not provided [RCV001663155] Chr22:26458822 [GRCh38]
Chr22:26854788 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu) single nucleotide variant HPS4-related condition [RCV003945869]|Hermansky-Pudlak syndrome 4 [RCV001146686]|Inborn genetic diseases [RCV003163325]|not provided [RCV001326430] Chr22:26463951 [GRCh38]
Chr22:26859917 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.385-159G>A single nucleotide variant not provided [RCV001665611] Chr22:26472577 [GRCh38]
Chr22:26868543 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.680C>T (p.Thr227Met) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147682]|not provided [RCV001858968] Chr22:26466252 [GRCh38]
Chr22:26862218 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.741T>A (p.Pro247=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144819]|not provided [RCV000923050] Chr22:26465517 [GRCh38]
Chr22:26861483 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.704A>G (p.His235Arg) single nucleotide variant HPS4-related condition [RCV003920509]|Hermansky-Pudlak syndrome 4 [RCV001146783]|not provided [RCV000880339] Chr22:26466228 [GRCh38]
Chr22:26862194 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_022081.6(HPS4):c.706+8G>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001146782]|not provided [RCV000899803] Chr22:26466218 [GRCh38]
Chr22:26862184 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
GRCh37/hg19 22q12.1(chr22:26337910-28489947)x1 copy number loss not provided [RCV001007180] Chr22:26337910..28489947 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.612A>G (p.Gln204=) single nucleotide variant not provided [RCV000922316] Chr22:26468608 [GRCh38]
Chr22:26864574 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.320G>T (p.Arg107Leu) single nucleotide variant HPS4-related condition [RCV003928292]|not provided [RCV000905462]|not specified [RCV000825172] Chr22:26472896 [GRCh38]
Chr22:26868862 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.276+5G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000851269] Chr22:26476988 [GRCh38]
Chr22:26872954 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.*1850G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001150613] Chr22:26451383 [GRCh38]
Chr22:26847349 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.*333C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147479] Chr22:26452900 [GRCh38]
Chr22:26848866 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*228A>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147480] Chr22:26453005 [GRCh38]
Chr22:26848971 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-317G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147788] Chr22:26482079 [GRCh38]
Chr22:26878045 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1233C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001149224] Chr22:26452000 [GRCh38]
Chr22:26847966 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-18A>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001146883] Chr22:26481780 [GRCh38]
Chr22:26877746 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1455G>A (p.Thr485=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147590]|not provided [RCV002070792] Chr22:26464175 [GRCh38]
Chr22:26860141 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.570C>T (p.Leu190=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001151025]|not provided [RCV002070826] Chr22:26470745 [GRCh38]
Chr22:26866711 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.381T>C (p.Tyr127=) single nucleotide variant not provided [RCV000939522] Chr22:26472835 [GRCh38]
Chr22:26868801 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.*1236G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001149222] Chr22:26451997 [GRCh38]
Chr22:26847963 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*2171C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001150611] Chr22:26451062 [GRCh38]
Chr22:26847028 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1962C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001150612] Chr22:26451271 [GRCh38]
Chr22:26847237 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.*1528T>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001146451] Chr22:26451705 [GRCh38]
Chr22:26847671 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*1223T>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001150729] Chr22:26452010 [GRCh38]
Chr22:26847976 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*423G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001146566] Chr22:26452810 [GRCh38]
Chr22:26848776 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1329C>G (p.Leu443=) single nucleotide variant not provided [RCV003825018] Chr22:26464301 [GRCh38]
Chr22:26860267 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1386C>G (p.Pro462=) single nucleotide variant not specified [RCV001195195] Chr22:26464244 [GRCh38]
Chr22:26860210 [GRCh37]
Chr22:22q12.1		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_022081.6(HPS4):c.*1387T>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001146452] Chr22:26451846 [GRCh38]
Chr22:26847812 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.*1235C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001149223] Chr22:26451998 [GRCh38]
Chr22:26847964 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.706+10G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001146781] Chr22:26466216 [GRCh38]
Chr22:26862182 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.637G>A (p.Val213Ile) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147683]|not provided [RCV002557161] Chr22:26468583 [GRCh38]
Chr22:26864549 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-312C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147787] Chr22:26482074 [GRCh38]
Chr22:26878040 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1758G>A (p.Leu586=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144719]|not provided [RCV003669202] Chr22:26458533 [GRCh38]
Chr22:26854499 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NC_000022.10:g.(?_26142492)_(27026451_?)del deletion Cataract 23 [RCV003107531] Chr22:26142492..27026451 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1956-296A>G single nucleotide variant not provided [RCV001641717] Chr22:26453700 [GRCh38]
Chr22:26849666 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.41+149G>A single nucleotide variant not provided [RCV001655109] Chr22:26481573 [GRCh38]
Chr22:26877539 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1387A>G (p.Arg463Gly) single nucleotide variant not provided [RCV001549856] Chr22:26464243 [GRCh38]
Chr22:26860209 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1714-173C>T single nucleotide variant not provided [RCV001656294] Chr22:26458750 [GRCh38]
Chr22:26854716 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.706+1G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV002570781]|not provided [RCV001571422] Chr22:26466225 [GRCh38]
Chr22:26862191 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_022081.6(HPS4):c.39G>A (p.Ser13=) single nucleotide variant not provided [RCV000909698] Chr22:26481724 [GRCh38]
Chr22:26877690 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147591]|not provided [RCV000907721]|not specified [RCV002282404] Chr22:26464234 [GRCh38]
Chr22:26860200 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_022081.6(HPS4):c.741T>C (p.Pro247=) single nucleotide variant not provided [RCV000897695] Chr22:26465517 [GRCh38]
Chr22:26861483 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1124C>G (p.Pro375Arg) single nucleotide variant not provided [RCV000926185] Chr22:26464506 [GRCh38]
Chr22:26860472 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1411T>C (p.Leu471=) single nucleotide variant not provided [RCV000932894] Chr22:26464219 [GRCh38]
Chr22:26860185 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.860G>C (p.Gly287Ala) single nucleotide variant not provided [RCV000917869] Chr22:26464770 [GRCh38]
Chr22:26860736 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_022081.6(HPS4):c.*1691G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144523] Chr22:26451542 [GRCh38]
Chr22:26847508 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.411G>A (p.Thr137=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144925]|not provided [RCV002070747] Chr22:26472392 [GRCh38]
Chr22:26868358 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.133-6C>T single nucleotide variant HPS4-related condition [RCV003918729]|Hermansky-Pudlak syndrome 4 [RCV001144926]|not provided [RCV002557100] Chr22:26477142 [GRCh38]
Chr22:26873108 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.5(HPS4):c.-628C>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001145031] Chr22:26483823 [GRCh38]
Chr22:26879789 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*469C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001146565] Chr22:26452764 [GRCh38]
Chr22:26848730 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.-568T>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001149334] Chr22:26483763 [GRCh38]
Chr22:26879729 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.597-140T>C single nucleotide variant not provided [RCV001597832] Chr22:26468763 [GRCh38]
Chr22:26864729 [GRCh37]
Chr22:22q12.1		 benign
GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1 copy number loss not provided [RCV002472563] Chr22:26614429..29847680 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_022081.6(HPS4):c.706+222C>T single nucleotide variant not provided [RCV001559633] Chr22:26466004 [GRCh38]
Chr22:26861970 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1330G>A (p.Glu444Lys) single nucleotide variant not provided [RCV002569374]|not specified [RCV002470124] Chr22:26464300 [GRCh38]
Chr22:26860266 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1955+150C>T single nucleotide variant not provided [RCV001608718] Chr22:26457709 [GRCh38]
Chr22:26853675 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.41+225C>T single nucleotide variant not provided [RCV001654940] Chr22:26481497 [GRCh38]
Chr22:26877463 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1714-139A>G single nucleotide variant not provided [RCV001620048] Chr22:26458716 [GRCh38]
Chr22:26854682 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.803+216T>C single nucleotide variant not provided [RCV001655968] Chr22:26465239 [GRCh38]
Chr22:26861205 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.132+247T>G single nucleotide variant not provided [RCV001678091] Chr22:26479018 [GRCh38]
Chr22:26874984 [GRCh37]
Chr22:22q12.1		 benign
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
NM_022081.6(HPS4):c.*842G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144623] Chr22:26452391 [GRCh38]
Chr22:26848357 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144927] Chr22:26479269 [GRCh38]
Chr22:26875235 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.38C>T (p.Ser13Leu) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144928] Chr22:26481725 [GRCh38]
Chr22:26877691 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*769G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144624] Chr22:26452464 [GRCh38]
Chr22:26848430 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.727G>A (p.Val243Ile) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144820] Chr22:26465531 [GRCh38]
Chr22:26861497 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.385-106G>A single nucleotide variant not provided [RCV001614421] Chr22:26472524 [GRCh38]
Chr22:26868490 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1714-244dup duplication not provided [RCV001589906] Chr22:26458820..26458821 [GRCh38]
Chr22:26854786..26854787 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.707-204A>G single nucleotide variant not provided [RCV001681373] Chr22:26465755 [GRCh38]
Chr22:26861721 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1714-261dup duplication not provided [RCV001582338] Chr22:26458821..26458822 [GRCh38]
Chr22:26854787..26854788 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1714-217G>A single nucleotide variant not provided [RCV001649615] Chr22:26458794 [GRCh38]
Chr22:26854760 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.*1207T>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144621] Chr22:26452026 [GRCh38]
Chr22:26847992 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*2269A>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001150610] Chr22:26450964 [GRCh38]
Chr22:26846930 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.*1209T>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001150730] Chr22:26452024 [GRCh38]
Chr22:26847990 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1897G>A (p.Val633Ile) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001150827]|not specified [RCV001819859] Chr22:26457917 [GRCh38]
Chr22:26853883 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1014C>T (p.Pro338=) single nucleotide variant HPS4-related condition [RCV003918740]|Hermansky-Pudlak syndrome 4 [RCV001150916]|not provided [RCV002559457] Chr22:26464616 [GRCh38]
Chr22:26860582 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.437T>C (p.Ile146Thr) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001151027]|Inborn genetic diseases [RCV002557256]|not provided [RCV001858985] Chr22:26472366 [GRCh38]
Chr22:26868332 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*477C>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001146564] Chr22:26452756 [GRCh38]
Chr22:26848722 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.*946G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144622] Chr22:26452287 [GRCh38]
Chr22:26848253 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001144818]|not provided [RCV001295726] Chr22:26464796 [GRCh38]
Chr22:26860762 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.930T>C (p.Asp310=) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001150917]|not provided [RCV003546658] Chr22:26464700 [GRCh38]
Chr22:26860666 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu) single nucleotide variant HPS4-related condition [RCV003963093]|Hermansky-Pudlak syndrome 4 [RCV001151024]|not provided [RCV002070825] Chr22:26470722 [GRCh38]
Chr22:26866688 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.1947G>A (p.Met649Ile) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147481]|not provided [RCV001520036] Chr22:26457867 [GRCh38]
Chr22:26853833 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
NM_022081.6(HPS4):c.-281A>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV001147786] Chr22:26482043 [GRCh38]
Chr22:26878009 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs) duplication Hermansky-Pudlak syndrome 4 [RCV003469497]|Inborn genetic diseases [RCV001267242]|not provided [RCV001760313] Chr22:26453392..26453393 [GRCh38]
Chr22:26849358..26849359 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_022081.6(HPS4):c.669+122A>G single nucleotide variant not provided [RCV001539017] Chr22:26468429 [GRCh38]
Chr22:26864395 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.554dup (p.Ser186fs) duplication not provided [RCV001268773] Chr22:26470760..26470761 [GRCh38]
Chr22:26866726..26866727 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.1713+1G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV001553743] Chr22:26463916 [GRCh38]
Chr22:26859882 [GRCh37]
Chr22:22q12.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_022081.6(HPS4):c.1040G>T (p.Gly347Val) single nucleotide variant Inborn genetic diseases [RCV003246878]|not provided [RCV001321273] Chr22:26464590 [GRCh38]
Chr22:26860556 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1292C>T (p.Pro431Leu) single nucleotide variant Inborn genetic diseases [RCV002550932]|not provided [RCV001373410] Chr22:26464338 [GRCh38]
Chr22:26860304 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1356A>C (p.Gln452His) single nucleotide variant Inborn genetic diseases [RCV003375239]|not provided [RCV001346611] Chr22:26464274 [GRCh38]
Chr22:26860240 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1397G>A (p.Arg466His) single nucleotide variant Inborn genetic diseases [RCV003284154]|not provided [RCV001301978] Chr22:26464233 [GRCh38]
Chr22:26860199 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.836G>A (p.Gly279Asp) single nucleotide variant Inborn genetic diseases [RCV002543510]|not provided [RCV001308999] Chr22:26464794 [GRCh38]
Chr22:26860760 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.250A>T (p.Ile84Leu) single nucleotide variant not provided [RCV001356793] Chr22:26477019 [GRCh38]
Chr22:26872985 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1793C>T (p.Thr598Met) single nucleotide variant not provided [RCV001471039] Chr22:26458498 [GRCh38]
Chr22:26854464 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1149C>T (p.Ala383=) single nucleotide variant not provided [RCV001465956] Chr22:26464481 [GRCh38]
Chr22:26860447 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1640G>C (p.Cys547Ser) single nucleotide variant not provided [RCV001496663]|not specified [RCV002271657] Chr22:26463990 [GRCh38]
Chr22:26859956 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.190G>A (p.Val64Ile) single nucleotide variant HPS4-related condition [RCV003965814]|not provided [RCV001428266] Chr22:26477079 [GRCh38]
Chr22:26873045 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.276+105C>T single nucleotide variant not provided [RCV001534825] Chr22:26476888 [GRCh38]
Chr22:26872854 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.597-69T>C single nucleotide variant not provided [RCV001710056] Chr22:26468692 [GRCh38]
Chr22:26864658 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.133-295G>T single nucleotide variant not provided [RCV001665572] Chr22:26477431 [GRCh38]
Chr22:26873397 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.706+151C>T single nucleotide variant not provided [RCV001724653] Chr22:26466075 [GRCh38]
Chr22:26862041 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.1955+18G>A single nucleotide variant not provided [RCV001513520] Chr22:26457841 [GRCh38]
Chr22:26853807 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.445A>G (p.Asn149Asp) single nucleotide variant HPS4-related condition [RCV003948449]|Inborn genetic diseases [RCV003298885]|not provided [RCV001495734] Chr22:26472358 [GRCh38]
Chr22:26868324 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022081.6(HPS4):c.702A>G (p.Glu234=) single nucleotide variant not provided [RCV001423245] Chr22:26466230 [GRCh38]
Chr22:26862196 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.266A>T (p.Asp89Val) single nucleotide variant not provided [RCV001505195] Chr22:26477003 [GRCh38]
Chr22:26872969 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.597-15T>C single nucleotide variant not provided [RCV001400488] Chr22:26468638 [GRCh38]
Chr22:26864604 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.502-1G>A single nucleotide variant not provided [RCV002246204] Chr22:26470814 [GRCh38]
Chr22:26866780 [GRCh37]
Chr22:22q12.1		 not provided
NM_022081.6(HPS4):c.272T>C (p.Leu91Pro) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV002254223] Chr22:26476997 [GRCh38]
Chr22:26872963 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_022081.6(HPS4):c.1152del (p.Gly385fs) deletion Hermansky-Pudlak syndrome 4 [RCV001783430] Chr22:26464478 [GRCh38]
Chr22:26860444 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.209C>T (p.Ser70Phe) single nucleotide variant not provided [RCV001774342] Chr22:26477060 [GRCh38]
Chr22:26873026 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1636C>G (p.His546Asp) single nucleotide variant not provided [RCV001758387] Chr22:26463994 [GRCh38]
Chr22:26859960 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.316A>C (p.Lys106Gln) single nucleotide variant not specified [RCV001820513] Chr22:26472900 [GRCh38]
Chr22:26868866 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1123C>A (p.Pro375Thr) single nucleotide variant not provided [RCV001896531] Chr22:26464507 [GRCh38]
Chr22:26860473 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.796A>G (p.Met266Val) single nucleotide variant not provided [RCV001929046] Chr22:26465462 [GRCh38]
Chr22:26861428 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.384+1G>A single nucleotide variant Albinism [RCV002287522]|Hermansky-Pudlak syndrome 4 [RCV003471254]|not provided [RCV002045280] Chr22:26472831 [GRCh38]
Chr22:26868797 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_022081.6(HPS4):c.945C>G (p.Asp315Glu) single nucleotide variant not provided [RCV001915184] Chr22:26464685 [GRCh38]
Chr22:26860651 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1092A>G (p.Gln364=) single nucleotide variant not provided [RCV001987921] Chr22:26464538 [GRCh38]
Chr22:26860504 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.1115T>C (p.Ile372Thr) single nucleotide variant not provided [RCV001988802] Chr22:26464515 [GRCh38]
Chr22:26860481 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.956C>T (p.Pro319Leu) single nucleotide variant not provided [RCV001929391] Chr22:26464674 [GRCh38]
Chr22:26860640 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1520A>T (p.Glu507Val) single nucleotide variant not provided [RCV002006622] Chr22:26464110 [GRCh38]
Chr22:26860076 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.2020G>T (p.Ala674Ser) single nucleotide variant not provided [RCV001863609] Chr22:26453340 [GRCh38]
Chr22:26849306 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.97A>G (p.Thr33Ala) single nucleotide variant not provided [RCV001896314] Chr22:26479300 [GRCh38]
Chr22:26875266 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1137A>C (p.Glu379Asp) single nucleotide variant not provided [RCV002005240] Chr22:26464493 [GRCh38]
Chr22:26860459 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.27A>T (p.Ala9=) single nucleotide variant not provided [RCV001949457] Chr22:26481736 [GRCh38]
Chr22:26877702 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.707-3C>G single nucleotide variant not provided [RCV002041871] Chr22:26465554 [GRCh38]
Chr22:26861520 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.563A>G (p.His188Arg) single nucleotide variant not provided [RCV002042806] Chr22:26470752 [GRCh38]
Chr22:26866718 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1387del (p.Arg463fs) deletion not provided [RCV002001979] Chr22:26464243 [GRCh38]
Chr22:26860209 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.2065G>A (p.Ala689Thr) single nucleotide variant not provided [RCV001892389] Chr22:26453295 [GRCh38]
Chr22:26849261 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1890C>T (p.Leu630=) single nucleotide variant not provided [RCV001968422] Chr22:26457924 [GRCh38]
Chr22:26853890 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1418G>A (p.Arg473His) single nucleotide variant Inborn genetic diseases [RCV003264157]|not provided [RCV001870972] Chr22:26464212 [GRCh38]
Chr22:26860178 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.637G>T (p.Val213Phe) single nucleotide variant Inborn genetic diseases [RCV002608090]|not provided [RCV001984077] Chr22:26468583 [GRCh38]
Chr22:26864549 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1454C>T (p.Thr485Met) single nucleotide variant not provided [RCV001947401] Chr22:26464176 [GRCh38]
Chr22:26860142 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1244C>T (p.Thr415Met) single nucleotide variant not provided [RCV001893244] Chr22:26464386 [GRCh38]
Chr22:26860352 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.728T>G (p.Val243Gly) single nucleotide variant not provided [RCV002003500] Chr22:26465530 [GRCh38]
Chr22:26861496 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_26872939)_(26873122_?)del deletion not provided [RCV001946242] Chr22:26872939..26873122 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1988A>C (p.Asn663Thr) single nucleotide variant not provided [RCV001891760] Chr22:26453372 [GRCh38]
Chr22:26849338 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.320G>A (p.Arg107Gln) single nucleotide variant not provided [RCV001895454] Chr22:26472896 [GRCh38]
Chr22:26868862 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1825C>T (p.Arg609Cys) single nucleotide variant not provided [RCV001909147] Chr22:26458466 [GRCh38]
Chr22:26854432 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.554G>T (p.Arg185Leu) single nucleotide variant not provided [RCV002023732] Chr22:26470761 [GRCh38]
Chr22:26866727 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.769A>G (p.Ser257Gly) single nucleotide variant not provided [RCV001913187] Chr22:26465489 [GRCh38]
Chr22:26861455 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.2041G>A (p.Gly681Ser) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV002264836]|not provided [RCV002023235] Chr22:26453319 [GRCh38]
Chr22:26849285 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1818_1819insC (p.Tyr607fs) insertion not provided [RCV002007320] Chr22:26458472..26458473 [GRCh38]
Chr22:26854438..26854439 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.1009A>G (p.Arg337Gly) single nucleotide variant not provided [RCV001927665] Chr22:26464621 [GRCh38]
Chr22:26860587 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1642G>A (p.Val548Ile) single nucleotide variant Inborn genetic diseases [RCV002562055]|not provided [RCV001944036] Chr22:26463988 [GRCh38]
Chr22:26859954 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1088_1101del (p.Leu363fs) deletion Hermansky-Pudlak syndrome 4 [RCV003471166]|not provided [RCV001942298] Chr22:26464529..26464542 [GRCh38]
Chr22:26860495..26860508 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_022081.6(HPS4):c.132+5G>A single nucleotide variant not provided [RCV001963732] Chr22:26479260 [GRCh38]
Chr22:26875226 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1478A>G (p.Asp493Gly) single nucleotide variant not provided [RCV001982489] Chr22:26464152 [GRCh38]
Chr22:26860118 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1846+3A>G single nucleotide variant not provided [RCV002016554] Chr22:26458442 [GRCh38]
Chr22:26854408 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.994G>T (p.Asp332Tyr) single nucleotide variant Inborn genetic diseases [RCV003250408]|not provided [RCV002019947] Chr22:26464636 [GRCh38]
Chr22:26860602 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1871C>T (p.Pro624Leu) single nucleotide variant not provided [RCV001876912] Chr22:26457943 [GRCh38]
Chr22:26853909 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1415C>T (p.Pro472Leu) single nucleotide variant not provided [RCV001963588] Chr22:26464215 [GRCh38]
Chr22:26860181 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1987A>G (p.Asn663Asp) single nucleotide variant not provided [RCV001998856] Chr22:26453373 [GRCh38]
Chr22:26849339 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1064C>T (p.Ser355Phe) single nucleotide variant not provided [RCV001989963] Chr22:26464566 [GRCh38]
Chr22:26860532 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1102G>A (p.Asp368Asn) single nucleotide variant not provided [RCV002048510] Chr22:26464528 [GRCh38]
Chr22:26860494 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1966A>T (p.Thr656Ser) single nucleotide variant not provided [RCV002032290] Chr22:26453394 [GRCh38]
Chr22:26849360 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.2004A>G (p.Thr668=) single nucleotide variant not provided [RCV001918289] Chr22:26453356 [GRCh38]
Chr22:26849322 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.1882C>T (p.Arg628Cys) single nucleotide variant not provided [RCV001903370] Chr22:26457932 [GRCh38]
Chr22:26853898 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1615G>T (p.Val539Leu) single nucleotide variant not provided [RCV001876810] Chr22:26464015 [GRCh38]
Chr22:26859981 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.227G>A (p.Arg76His) single nucleotide variant not provided [RCV002027544] Chr22:26477042 [GRCh38]
Chr22:26873008 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1198C>G (p.Pro400Ala) single nucleotide variant not provided [RCV001977180] Chr22:26464432 [GRCh38]
Chr22:26860398 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1936C>T (p.Leu646Phe) single nucleotide variant not provided [RCV001904094] Chr22:26457878 [GRCh38]
Chr22:26853844 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.466A>T (p.Ile156Phe) single nucleotide variant not provided [RCV001879712] Chr22:26472337 [GRCh38]
Chr22:26868303 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1778A>T (p.Asp593Val) single nucleotide variant not provided [RCV002026594] Chr22:26458513 [GRCh38]
Chr22:26854479 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.938C>A (p.Ser313Tyr) single nucleotide variant not provided [RCV001976279] Chr22:26464692 [GRCh38]
Chr22:26860658 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1528T>A (p.Ser510Thr) single nucleotide variant not provided [RCV001878957] Chr22:26464102 [GRCh38]
Chr22:26860068 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.277-2A>G single nucleotide variant not provided [RCV001999503] Chr22:26472941 [GRCh38]
Chr22:26868907 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.1031C>G (p.Ser344Cys) single nucleotide variant not provided [RCV002051076] Chr22:26464599 [GRCh38]
Chr22:26860565 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.545C>T (p.Thr182Ile) single nucleotide variant not provided [RCV001866376] Chr22:26470770 [GRCh38]
Chr22:26866736 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.889G>A (p.Ala297Thr) single nucleotide variant not provided [RCV001920919] Chr22:26464741 [GRCh38]
Chr22:26860707 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1397G>C (p.Arg466Pro) single nucleotide variant not provided [RCV002009481] Chr22:26464233 [GRCh38]
Chr22:26860199 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.631G>A (p.Ala211Thr) single nucleotide variant not provided [RCV001866418] Chr22:26468589 [GRCh38]
Chr22:26864555 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1297A>T (p.Met433Leu) single nucleotide variant not provided [RCV001883468] Chr22:26464333 [GRCh38]
Chr22:26860299 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.636G>T (p.Lys212Asn) single nucleotide variant not provided [RCV001921871] Chr22:26468584 [GRCh38]
Chr22:26864550 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.469T>C (p.Phe157Leu) single nucleotide variant not provided [RCV001979106]|not specified [RCV002282661] Chr22:26472334 [GRCh38]
Chr22:26868300 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.2024C>T (p.Pro675Leu) single nucleotide variant not provided [RCV001931996] Chr22:26453336 [GRCh38]
Chr22:26849302 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1729G>C (p.Ala577Pro) single nucleotide variant not provided [RCV002010005] Chr22:26458562 [GRCh38]
Chr22:26854528 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1621A>G (p.Met541Val) single nucleotide variant not provided [RCV001922130]|not specified [RCV003490913] Chr22:26464009 [GRCh38]
Chr22:26859975 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.104C>T (p.Ala35Val) single nucleotide variant not provided [RCV001866826] Chr22:26479293 [GRCh38]
Chr22:26875259 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1136A>C (p.Glu379Ala) single nucleotide variant not provided [RCV001899666] Chr22:26464494 [GRCh38]
Chr22:26860460 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.76G>A (p.Val26Ile) single nucleotide variant not provided [RCV001905572] Chr22:26479321 [GRCh38]
Chr22:26875287 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1040G>A (p.Gly347Asp) single nucleotide variant not provided [RCV001924683] Chr22:26464590 [GRCh38]
Chr22:26860556 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.820G>A (p.Ala274Thr) single nucleotide variant not provided [RCV002018748] Chr22:26464810 [GRCh38]
Chr22:26860776 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.664G>A (p.Glu222Lys) single nucleotide variant not provided [RCV001960479] Chr22:26468556 [GRCh38]
Chr22:26864522 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1703T>C (p.Ile568Thr) single nucleotide variant not provided [RCV001904043] Chr22:26463927 [GRCh38]
Chr22:26859893 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1504G>A (p.Ala502Thr) single nucleotide variant not provided [RCV002011519] Chr22:26464126 [GRCh38]
Chr22:26860092 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1605C>T (p.Cys535=) single nucleotide variant not provided [RCV002014308] Chr22:26464025 [GRCh38]
Chr22:26859991 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.302C>T (p.Pro101Leu) single nucleotide variant not provided [RCV001974977] Chr22:26472914 [GRCh38]
Chr22:26868880 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.427A>G (p.Ile143Val) single nucleotide variant not provided [RCV001880522] Chr22:26472376 [GRCh38]
Chr22:26868342 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1313G>A (p.Gly438Glu) single nucleotide variant not provided [RCV001877595] Chr22:26464317 [GRCh38]
Chr22:26860283 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1395C>A (p.Thr465=) single nucleotide variant not provided [RCV002111235] Chr22:26464235 [GRCh38]
Chr22:26860201 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.997C>T (p.Leu333=) single nucleotide variant not provided [RCV002086810] Chr22:26464633 [GRCh38]
Chr22:26860599 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1914C>T (p.Ser638=) single nucleotide variant not provided [RCV002167616] Chr22:26457900 [GRCh38]
Chr22:26853866 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.711G>A (p.Ala237=) single nucleotide variant not provided [RCV002210865] Chr22:26465547 [GRCh38]
Chr22:26861513 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.804-11_804-10del deletion not provided [RCV002124595] Chr22:26464836..26464837 [GRCh38]
Chr22:26860802..26860803 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.384+13G>A single nucleotide variant not provided [RCV002072391] Chr22:26472819 [GRCh38]
Chr22:26868785 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.133-12C>T single nucleotide variant not provided [RCV002164987]|not specified [RCV003479395] Chr22:26477148 [GRCh38]
Chr22:26873114 [GRCh37]
Chr22:22q12.1		 benign
NM_022081.6(HPS4):c.502-9C>T single nucleotide variant not provided [RCV002187438] Chr22:26470822 [GRCh38]
Chr22:26866788 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.864G>C (p.Gly288=) single nucleotide variant not provided [RCV002147639] Chr22:26464766 [GRCh38]
Chr22:26860732 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1428A>G (p.Pro476=) single nucleotide variant not provided [RCV002172087] Chr22:26464202 [GRCh38]
Chr22:26860168 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1521A>G (p.Glu507=) single nucleotide variant not provided [RCV002135016] Chr22:26464109 [GRCh38]
Chr22:26860075 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1788C>G (p.Ala596=) single nucleotide variant not provided [RCV002079304] Chr22:26458503 [GRCh38]
Chr22:26854469 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.429C>T (p.Ile143=) single nucleotide variant not provided [RCV002116222] Chr22:26472374 [GRCh38]
Chr22:26868340 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.945C>T (p.Asp315=) single nucleotide variant not provided [RCV002215755] Chr22:26464685 [GRCh38]
Chr22:26860651 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.501+18_501+20del deletion not provided [RCV002193607] Chr22:26472282..26472284 [GRCh38]
Chr22:26868248..26868250 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.41+15C>T single nucleotide variant not provided [RCV002128568] Chr22:26481707 [GRCh38]
Chr22:26877673 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1509C>A (p.Ala503=) single nucleotide variant not provided [RCV002079379] Chr22:26464121 [GRCh38]
Chr22:26860087 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1177C>T (p.Pro393Ser) single nucleotide variant HPS4-related condition [RCV003913680]|not provided [RCV002115245] Chr22:26464453 [GRCh38]
Chr22:26860419 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_022081.6(HPS4):c.184C>T (p.Arg62Cys) single nucleotide variant Inborn genetic diseases [RCV002550995]|not provided [RCV001944915] Chr22:26477085 [GRCh38]
Chr22:26873051 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.504G>A (p.Val168=) single nucleotide variant not provided [RCV002215598] Chr22:26470811 [GRCh38]
Chr22:26866777 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1713+20C>T single nucleotide variant not provided [RCV002131142] Chr22:26463897 [GRCh38]
Chr22:26859863 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.900T>C (p.His300=) single nucleotide variant not provided [RCV002099507] Chr22:26464730 [GRCh38]
Chr22:26860696 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.615C>G (p.Leu205=) single nucleotide variant not provided [RCV002139428] Chr22:26468605 [GRCh38]
Chr22:26864571 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.78A>G (p.Val26=) single nucleotide variant not provided [RCV002218295] Chr22:26479319 [GRCh38]
Chr22:26875285 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.885A>G (p.Glu295=) single nucleotide variant not provided [RCV002175630] Chr22:26464745 [GRCh38]
Chr22:26860711 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1955+19C>T single nucleotide variant not provided [RCV002143120] Chr22:26457840 [GRCh38]
Chr22:26853806 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2028A>G (p.Ala676=) single nucleotide variant not provided [RCV002137722] Chr22:26453332 [GRCh38]
Chr22:26849298 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1713+8T>A single nucleotide variant not provided [RCV002183790] Chr22:26463909 [GRCh38]
Chr22:26859875 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1955+18G>C single nucleotide variant not provided [RCV002138397]|not specified [RCV003403718] Chr22:26457841 [GRCh38]
Chr22:26853807 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.133-4A>C single nucleotide variant not provided [RCV002164183] Chr22:26477140 [GRCh38]
Chr22:26873106 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1872G>T (p.Pro624=) single nucleotide variant not provided [RCV002159046] Chr22:26457942 [GRCh38]
Chr22:26853908 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1935G>A (p.Ala645=) single nucleotide variant not provided [RCV002119051] Chr22:26457879 [GRCh38]
Chr22:26853845 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.502-6G>A single nucleotide variant not provided [RCV002098042] Chr22:26470819 [GRCh38]
Chr22:26866785 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1977C>T (p.Tyr659=) single nucleotide variant not provided [RCV002184586] Chr22:26453383 [GRCh38]
Chr22:26849349 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1846+8C>T single nucleotide variant not provided [RCV002218788] Chr22:26458437 [GRCh38]
Chr22:26854403 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1524C>T (p.Cys508=) single nucleotide variant not provided [RCV002121268] Chr22:26464106 [GRCh38]
Chr22:26860072 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.804-16C>G single nucleotide variant not provided [RCV002143467] Chr22:26464842 [GRCh38]
Chr22:26860808 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1713+19del deletion not provided [RCV002204708] Chr22:26463898 [GRCh38]
Chr22:26859864 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1950T>G (p.Thr650=) single nucleotide variant not provided [RCV002160707] Chr22:26457864 [GRCh38]
Chr22:26853830 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1767G>A (p.Thr589=) single nucleotide variant not provided [RCV002144647] Chr22:26458524 [GRCh38]
Chr22:26854490 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.10:g.(?_26859863)_(26864609_?)del deletion not provided [RCV003109862] Chr22:26859863..26864609 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.1767_1768del (p.Leu590fs) deletion Hermansky-Pudlak syndrome 4 [RCV003110190]|not provided [RCV003575035] Chr22:26458523..26458524 [GRCh38]
Chr22:26854489..26854490 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_022081.6(HPS4):c.1766C>T (p.Thr589Met) single nucleotide variant not provided [RCV003111816] Chr22:26458525 [GRCh38]
Chr22:26854491 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1902C>T (p.Ser634=) single nucleotide variant not provided [RCV003116102] Chr22:26457912 [GRCh38]
Chr22:26853878 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1956-3C>T single nucleotide variant not provided [RCV003121906] Chr22:26453407 [GRCh38]
Chr22:26849373 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter) single nucleotide variant Hermansky-Pudlak syndrome [RCV002271847] Chr22:26464095 [GRCh38]
Chr22:26860061 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.2054del (p.Pro685fs) deletion Hermansky-Pudlak syndrome 4 [RCV002245423] Chr22:26453306 [GRCh38]
Chr22:26849272 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_022081.6(HPS4):c.1501_1505del (p.His501fs) deletion Hermansky-Pudlak syndrome [RCV003230813] Chr22:26464125..26464129 [GRCh38]
Chr22:26860091..26860095 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.706+36G>A single nucleotide variant not provided [RCV002286273] Chr22:26466190 [GRCh38]
Chr22:26862156 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.706+176G>A single nucleotide variant not specified [RCV003236280] Chr22:26466050 [GRCh38]
Chr22:26862016 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1714-126_1714-113del deletion not provided [RCV002286263] Chr22:26458690..26458703 [GRCh38]
Chr22:26854656..26854669 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.42-397G>A single nucleotide variant not provided [RCV002285667] Chr22:26479752 [GRCh38]
Chr22:26875718 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.340G>A (p.Gly114Arg) single nucleotide variant not provided [RCV002296415] Chr22:26472876 [GRCh38]
Chr22:26868842 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.2116A>C (p.Asn706His) single nucleotide variant not provided [RCV002295517] Chr22:26453244 [GRCh38]
Chr22:26849210 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1000G>A (p.Glu334Lys) single nucleotide variant not provided [RCV002295452] Chr22:26464630 [GRCh38]
Chr22:26860596 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1268G>T (p.Ser423Ile) single nucleotide variant not provided [RCV002301952] Chr22:26464362 [GRCh38]
Chr22:26860328 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.897C>T (p.Gly299=) single nucleotide variant not provided [RCV002614566] Chr22:26464733 [GRCh38]
Chr22:26860699 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1448T>C (p.Leu483Pro) single nucleotide variant Inborn genetic diseases [RCV002684259] Chr22:26464182 [GRCh38]
Chr22:26860148 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1109C>G (p.Ser370Cys) single nucleotide variant not provided [RCV002837845] Chr22:26464521 [GRCh38]
Chr22:26860487 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.150G>A (p.Gln50=) single nucleotide variant HPS4-related condition [RCV003936494]|not provided [RCV002994058] Chr22:26477119 [GRCh38]
Chr22:26873085 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1888C>T (p.Leu630Phe) single nucleotide variant Inborn genetic diseases [RCV002974687]|not provided [RCV003111738] Chr22:26457926 [GRCh38]
Chr22:26853892 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1176G>A (p.Val392=) single nucleotide variant not provided [RCV002730771] Chr22:26464454 [GRCh38]
Chr22:26860420 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.277-4A>C single nucleotide variant not provided [RCV002843325] Chr22:26472943 [GRCh38]
Chr22:26868909 [GRCh37]
Chr22:22q12.1		 likely benign
NM_020437.5(ASPHD2):c.1019C>T (p.Pro340Leu) single nucleotide variant Inborn genetic diseases [RCV002997114] Chr22:26443115 [GRCh38]
Chr22:26839081 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.170T>C (p.Ile57Thr) single nucleotide variant Inborn genetic diseases [RCV002901288] Chr22:26477099 [GRCh38]
Chr22:26873065 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1915G>A (p.Glu639Lys) single nucleotide variant Inborn genetic diseases [RCV002684231] Chr22:26457899 [GRCh38]
Chr22:26853865 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1480G>A (p.Val494Ile) single nucleotide variant not provided [RCV003013757] Chr22:26464150 [GRCh38]
Chr22:26860116 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.318G>T (p.Lys106Asn) single nucleotide variant not provided [RCV002731560] Chr22:26472898 [GRCh38]
Chr22:26868864 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1818T>C (p.His606=) single nucleotide variant not provided [RCV002615636] Chr22:26458473 [GRCh38]
Chr22:26854439 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.451del (p.Ser151fs) deletion not provided [RCV002967528] Chr22:26472352 [GRCh38]
Chr22:26868318 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.707-20A>C single nucleotide variant not provided [RCV002858314] Chr22:26465571 [GRCh38]
Chr22:26861537 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2023C>T (p.Pro675Ser) single nucleotide variant not provided [RCV002617521] Chr22:26453337 [GRCh38]
Chr22:26849303 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1091A>C (p.Gln364Pro) single nucleotide variant not provided [RCV002662933] Chr22:26464539 [GRCh38]
Chr22:26860505 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.501+14C>T single nucleotide variant not provided [RCV003054468] Chr22:26472288 [GRCh38]
Chr22:26868254 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.884A>T (p.Glu295Val) single nucleotide variant not provided [RCV002592779] Chr22:26464746 [GRCh38]
Chr22:26860712 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1696G>A (p.Ala566Thr) single nucleotide variant not provided [RCV002928154] Chr22:26463934 [GRCh38]
Chr22:26859900 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1826G>A (p.Arg609His) single nucleotide variant not provided [RCV002795644] Chr22:26458465 [GRCh38]
Chr22:26854431 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.864G>A (p.Gly288=) single nucleotide variant not provided [RCV002871487] Chr22:26464766 [GRCh38]
Chr22:26860732 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1955+9C>T single nucleotide variant not provided [RCV002694992] Chr22:26457850 [GRCh38]
Chr22:26853816 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1540A>G (p.Asn514Asp) single nucleotide variant not provided [RCV002825245] Chr22:26464090 [GRCh38]
Chr22:26860056 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.643C>T (p.Leu215Phe) single nucleotide variant not provided [RCV003018072] Chr22:26468577 [GRCh38]
Chr22:26864543 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.621C>T (p.Pro207=) single nucleotide variant not provided [RCV002780614] Chr22:26468599 [GRCh38]
Chr22:26864565 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.988G>A (p.Gly330Ser) single nucleotide variant not provided [RCV002760673] Chr22:26464642 [GRCh38]
Chr22:26860608 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1614C>T (p.Leu538=) single nucleotide variant HPS4-related condition [RCV003936287]|not provided [RCV002638997] Chr22:26464016 [GRCh38]
Chr22:26859982 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.969G>A (p.Lys323=) single nucleotide variant not provided [RCV003019069] Chr22:26464661 [GRCh38]
Chr22:26860627 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.670-19T>C single nucleotide variant not provided [RCV003000005] Chr22:26466281 [GRCh38]
Chr22:26862247 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.90C>T (p.Gly30=) single nucleotide variant not provided [RCV003078544] Chr22:26479307 [GRCh38]
Chr22:26875273 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.1529C>T (p.Ser510Leu) single nucleotide variant not provided [RCV002795961] Chr22:26464101 [GRCh38]
Chr22:26860067 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1360C>T (p.Pro454Ser) single nucleotide variant not provided [RCV002756892] Chr22:26464270 [GRCh38]
Chr22:26860236 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1744C>T (p.Leu582=) single nucleotide variant not provided [RCV003002359] Chr22:26458547 [GRCh38]
Chr22:26854513 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.803+1G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV002510397] Chr22:26465454 [GRCh38]
Chr22:26861420 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.41+1G>A single nucleotide variant not provided [RCV002867926] Chr22:26481721 [GRCh38]
Chr22:26877687 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.1714-18C>T single nucleotide variant not provided [RCV002952993] Chr22:26458595 [GRCh38]
Chr22:26854561 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1752C>T (p.Val584=) single nucleotide variant not provided [RCV002705973] Chr22:26458539 [GRCh38]
Chr22:26854505 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1383C>A (p.Leu461=) single nucleotide variant not provided [RCV002735280] Chr22:26464247 [GRCh38]
Chr22:26860213 [GRCh37]
Chr22:22q12.1		 likely benign
NM_020437.5(ASPHD2):c.1022G>A (p.Arg341Gln) single nucleotide variant Inborn genetic diseases [RCV002704004] Chr22:26443118 [GRCh38]
Chr22:26839084 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.630C>T (p.Thr210=) single nucleotide variant not provided [RCV002639197] Chr22:26468590 [GRCh38]
Chr22:26864556 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.176G>C (p.Gly59Ala) single nucleotide variant not provided [RCV002918278] Chr22:26477093 [GRCh38]
Chr22:26873059 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1768C>T (p.Leu590=) single nucleotide variant not provided [RCV002626197] Chr22:26458523 [GRCh38]
Chr22:26854489 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1955+10C>T single nucleotide variant not provided [RCV002894491] Chr22:26457849 [GRCh38]
Chr22:26853815 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.256G>A (p.Val86Ile) single nucleotide variant not provided [RCV002745730] Chr22:26477013 [GRCh38]
Chr22:26872979 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.42-4C>G single nucleotide variant not provided [RCV002790981] Chr22:26479359 [GRCh38]
Chr22:26875325 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1111G>A (p.Glu371Lys) single nucleotide variant Inborn genetic diseases [RCV003308147]|not provided [RCV002576433] Chr22:26464519 [GRCh38]
Chr22:26860485 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.833A>T (p.Asp278Val) single nucleotide variant Inborn genetic diseases [RCV003308148]|not provided [RCV002576434] Chr22:26464797 [GRCh38]
Chr22:26860763 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.520C>G (p.Leu174Val) single nucleotide variant Inborn genetic diseases [RCV002930028] Chr22:26470795 [GRCh38]
Chr22:26866761 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV002789957]|not provided [RCV003108234] Chr22:26464084 [GRCh38]
Chr22:26860050 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_022081.6(HPS4):c.803+4A>C single nucleotide variant not provided [RCV002626550] Chr22:26465451 [GRCh38]
Chr22:26861417 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.132+20A>G single nucleotide variant not provided [RCV002791369] Chr22:26479245 [GRCh38]
Chr22:26875211 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1417C>T (p.Arg473Cys) single nucleotide variant Inborn genetic diseases [RCV003274255]|not provided [RCV002595536] Chr22:26464213 [GRCh38]
Chr22:26860179 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.1933G>T (p.Ala645Ser) single nucleotide variant not provided [RCV002573075] Chr22:26457881 [GRCh38]
Chr22:26853847 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1650G>A (p.Gly550=) single nucleotide variant not provided [RCV003082699] Chr22:26463980 [GRCh38]
Chr22:26859946 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.681G>A (p.Thr227=) single nucleotide variant not provided [RCV002642810] Chr22:26466251 [GRCh38]
Chr22:26862217 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.554G>A (p.Arg185His) single nucleotide variant HPS4-related condition [RCV003410256]|Hermansky-Pudlak syndrome 4 [RCV002789958] Chr22:26470761 [GRCh38]
Chr22:26866727 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV002789959]|not provided [RCV003730397] Chr22:26472859 [GRCh38]
Chr22:26868825 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_022081.6(HPS4):c.61T>C (p.Tyr21His) single nucleotide variant Inborn genetic diseases [RCV002762991] Chr22:26479336 [GRCh38]
Chr22:26875302 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.9C>T (p.Thr3=) single nucleotide variant not provided [RCV002572499] Chr22:26481754 [GRCh38]
Chr22:26877720 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.132+4A>G single nucleotide variant not provided [RCV002914630] Chr22:26479261 [GRCh38]
Chr22:26875227 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.76G>T (p.Val26Leu) single nucleotide variant not provided [RCV002801256] Chr22:26479321 [GRCh38]
Chr22:26875287 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1836C>G (p.Ser612Arg) single nucleotide variant not provided [RCV003059015] Chr22:26458455 [GRCh38]
Chr22:26854421 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1731T>G (p.Ala577=) single nucleotide variant not provided [RCV002663823] Chr22:26458560 [GRCh38]
Chr22:26854526 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1041T>A (p.Gly347=) single nucleotide variant not provided [RCV002595278] Chr22:26464589 [GRCh38]
Chr22:26860555 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1344C>A (p.Gly448=) single nucleotide variant not provided [RCV002853105] Chr22:26464286 [GRCh38]
Chr22:26860252 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.133-5C>T single nucleotide variant not provided [RCV002626664] Chr22:26477141 [GRCh38]
Chr22:26873107 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1857G>T (p.Pro619=) single nucleotide variant not provided [RCV002919099] Chr22:26457957 [GRCh38]
Chr22:26853923 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.47del (p.Asn16fs) deletion Hermansky-Pudlak syndrome 4 [RCV003041406]|not provided [RCV003050575] Chr22:26479350 [GRCh38]
Chr22:26875316 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_022081.6(HPS4):c.1024C>T (p.His342Tyr) single nucleotide variant not provided [RCV002741233] Chr22:26464606 [GRCh38]
Chr22:26860572 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.938C>G (p.Ser313Cys) single nucleotide variant not provided [RCV002625259] Chr22:26464692 [GRCh38]
Chr22:26860658 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.976G>A (p.Gly326Arg) single nucleotide variant Inborn genetic diseases [RCV003269187]|not provided [RCV002574312] Chr22:26464654 [GRCh38]
Chr22:26860620 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1191C>T (p.Gly397=) single nucleotide variant not provided [RCV002894153] Chr22:26464439 [GRCh38]
Chr22:26860405 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.938C>T (p.Ser313Phe) single nucleotide variant not provided [RCV002966952] Chr22:26464692 [GRCh38]
Chr22:26860658 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.946G>A (p.Glu316Lys) single nucleotide variant not provided [RCV002649881] Chr22:26464684 [GRCh38]
Chr22:26860650 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1956-4A>G single nucleotide variant not provided [RCV002646545] Chr22:26453408 [GRCh38]
Chr22:26849374 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1637A>G (p.His546Arg) single nucleotide variant not provided [RCV002601786] Chr22:26463993 [GRCh38]
Chr22:26859959 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1170A>G (p.Leu390=) single nucleotide variant not provided [RCV002811809] Chr22:26464460 [GRCh38]
Chr22:26860426 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1502A>G (p.His501Arg) single nucleotide variant Inborn genetic diseases [RCV002769288] Chr22:26464128 [GRCh38]
Chr22:26860094 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1058G>T (p.Ser353Ile) single nucleotide variant Inborn genetic diseases [RCV002634346]|not provided [RCV002651416] Chr22:26464572 [GRCh38]
Chr22:26860538 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1536A>T (p.Ser512=) single nucleotide variant not provided [RCV002602840] Chr22:26464094 [GRCh38]
Chr22:26860060 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1277G>A (p.Arg426His) single nucleotide variant not provided [RCV002650806] Chr22:26464353 [GRCh38]
Chr22:26860319 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.277-12C>T single nucleotide variant not provided [RCV002602050] Chr22:26472951 [GRCh38]
Chr22:26868917 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.91G>A (p.Asp31Asn) single nucleotide variant not provided [RCV002746385] Chr22:26479306 [GRCh38]
Chr22:26875272 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1089C>A (p.Leu363=) single nucleotide variant not provided [RCV003029640] Chr22:26464541 [GRCh38]
Chr22:26860507 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.301C>T (p.Pro101Ser) single nucleotide variant Inborn genetic diseases [RCV002940462] Chr22:26472915 [GRCh38]
Chr22:26868881 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1769T>A (p.Leu590Gln) single nucleotide variant not provided [RCV002856303] Chr22:26458522 [GRCh38]
Chr22:26854488 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1395C>G (p.Thr465=) single nucleotide variant not provided [RCV002715237] Chr22:26464235 [GRCh38]
Chr22:26860201 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1242C>G (p.Pro414=) single nucleotide variant not provided [RCV002899301] Chr22:26464388 [GRCh38]
Chr22:26860354 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.42-13G>T single nucleotide variant not provided [RCV002899320] Chr22:26479368 [GRCh38]
Chr22:26875334 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1083C>G (p.Val361=) single nucleotide variant not provided [RCV003088680] Chr22:26464547 [GRCh38]
Chr22:26860513 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.501+10T>G single nucleotide variant not provided [RCV002834995] Chr22:26472292 [GRCh38]
Chr22:26868258 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.793C>T (p.Gln265Ter) single nucleotide variant not provided [RCV003009947] Chr22:26465465 [GRCh38]
Chr22:26861431 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.209C>G (p.Ser70Cys) single nucleotide variant Inborn genetic diseases [RCV002878592] Chr22:26477060 [GRCh38]
Chr22:26873026 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1407G>T (p.Leu469Phe) single nucleotide variant not provided [RCV002671014] Chr22:26464223 [GRCh38]
Chr22:26860189 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1368C>T (p.Pro456=) single nucleotide variant not provided [RCV002877209] Chr22:26464262 [GRCh38]
Chr22:26860228 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.609C>G (p.Thr203=) single nucleotide variant HPS4-related condition [RCV003973460]|not provided [RCV002646692] Chr22:26468611 [GRCh38]
Chr22:26864577 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.866G>C (p.Ser289Thr) single nucleotide variant not provided [RCV002834840] Chr22:26464764 [GRCh38]
Chr22:26860730 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.532C>T (p.Arg178Cys) single nucleotide variant Inborn genetic diseases [RCV002877628] Chr22:26470783 [GRCh38]
Chr22:26866749 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.42-18A>G single nucleotide variant not provided [RCV002900160] Chr22:26479373 [GRCh38]
Chr22:26875339 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1942G>C (p.Glu648Gln) single nucleotide variant not provided [RCV002792143] Chr22:26457872 [GRCh38]
Chr22:26853838 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1955+18G>T single nucleotide variant not provided [RCV002716099] Chr22:26457841 [GRCh38]
Chr22:26853807 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1770G>A (p.Leu590=) single nucleotide variant not provided [RCV002807224] Chr22:26458521 [GRCh38]
Chr22:26854487 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.277-10C>G single nucleotide variant not provided [RCV002856910] Chr22:26472949 [GRCh38]
Chr22:26868915 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.568C>G (p.Leu190Val) single nucleotide variant not provided [RCV002716882] Chr22:26470747 [GRCh38]
Chr22:26866713 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.502-8C>G single nucleotide variant not provided [RCV002577143] Chr22:26470821 [GRCh38]
Chr22:26866787 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_022081.6(HPS4):c.939C>T (p.Ser313=) single nucleotide variant not provided [RCV002807010] Chr22:26464691 [GRCh38]
Chr22:26860657 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1615G>A (p.Val539Met) single nucleotide variant not provided [RCV003088590] Chr22:26464015 [GRCh38]
Chr22:26859981 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1329C>T (p.Leu443=) single nucleotide variant not provided [RCV002602469] Chr22:26464301 [GRCh38]
Chr22:26860267 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2037C>T (p.Ser679=) single nucleotide variant not provided [RCV002770315] Chr22:26453323 [GRCh38]
Chr22:26849289 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.410C>T (p.Thr137Met) single nucleotide variant not provided [RCV003051372] Chr22:26472393 [GRCh38]
Chr22:26868359 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1483G>A (p.Asp495Asn) single nucleotide variant not provided [RCV003051689] Chr22:26464147 [GRCh38]
Chr22:26860113 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.803+19A>C single nucleotide variant not provided [RCV002721605] Chr22:26465436 [GRCh38]
Chr22:26861402 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.384+14G>A single nucleotide variant not provided [RCV002721724] Chr22:26472818 [GRCh38]
Chr22:26868784 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1295A>C (p.Glu432Ala) single nucleotide variant not provided [RCV002721917] Chr22:26464335 [GRCh38]
Chr22:26860301 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.706+15G>A single nucleotide variant not provided [RCV002634564] Chr22:26466211 [GRCh38]
Chr22:26862177 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.42-3C>T single nucleotide variant not provided [RCV003066293] Chr22:26479358 [GRCh38]
Chr22:26875324 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.2089A>G (p.Lys697Glu) single nucleotide variant not provided [RCV002587735] Chr22:26453271 [GRCh38]
Chr22:26849237 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1872G>A (p.Pro624=) single nucleotide variant not provided [RCV002609695] Chr22:26457942 [GRCh38]
Chr22:26853908 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1058G>C (p.Ser353Thr) single nucleotide variant not provided [RCV002583608] Chr22:26464572 [GRCh38]
Chr22:26860538 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.154T>C (p.Leu52=) single nucleotide variant not provided [RCV002604579] Chr22:26477115 [GRCh38]
Chr22:26873081 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1956-13C>T single nucleotide variant not provided [RCV002608924] Chr22:26453417 [GRCh38]
Chr22:26849383 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2080G>A (p.Gly694Ser) single nucleotide variant Inborn genetic diseases [RCV002721967]|not provided [RCV002721968] Chr22:26453280 [GRCh38]
Chr22:26849246 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.28A>G (p.Lys10Glu) single nucleotide variant not provided [RCV002586381] Chr22:26481735 [GRCh38]
Chr22:26877701 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1815_1816inv (p.His606Tyr) inversion not provided [RCV002609148] Chr22:26458475..26458476 [GRCh38]
Chr22:26854441..26854442 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.319C>T (p.Arg107Trp) single nucleotide variant not provided [RCV002588626] Chr22:26472897 [GRCh38]
Chr22:26868863 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.644T>C (p.Leu215Pro) single nucleotide variant not provided [RCV002943828] Chr22:26468576 [GRCh38]
Chr22:26864542 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.2091G>A (p.Lys697=) single nucleotide variant not provided [RCV002584093] Chr22:26453269 [GRCh38]
Chr22:26849235 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1544G>T (p.Cys515Phe) single nucleotide variant not provided [RCV002589444] Chr22:26464086 [GRCh38]
Chr22:26860052 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.457C>T (p.Leu153=) single nucleotide variant not provided [RCV003032030] Chr22:26472346 [GRCh38]
Chr22:26868312 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.133-2A>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003229497] Chr22:26477138 [GRCh38]
Chr22:26873104 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.430G>T (p.Glu144Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003340890] Chr22:26472373 [GRCh38]
Chr22:26868339 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_020437.5(ASPHD2):c.1021C>T (p.Arg341Trp) single nucleotide variant Inborn genetic diseases [RCV003373146] Chr22:26443117 [GRCh38]
Chr22:26839083 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.695C>T (p.Pro232Leu) single nucleotide variant Inborn genetic diseases [RCV003359060] Chr22:26466237 [GRCh38]
Chr22:26862203 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1723A>G (p.Ser575Gly) single nucleotide variant Inborn genetic diseases [RCV003346099] Chr22:26458568 [GRCh38]
Chr22:26854534 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1661C>G (p.Ser554Cys) single nucleotide variant Inborn genetic diseases [RCV003377242] Chr22:26463969 [GRCh38]
Chr22:26859935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.41+1_41+3del microsatellite Hermansky-Pudlak syndrome 4 [RCV003461736] Chr22:26481719..26481721 [GRCh38]
Chr22:26877685..26877687 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.755A>G (p.Lys252Arg) single nucleotide variant Inborn genetic diseases [RCV003367665] Chr22:26465503 [GRCh38]
Chr22:26861469 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.133-1G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003469827] Chr22:26477137 [GRCh38]
Chr22:26873103 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.673_686del deletion Hermansky-Pudlak syndrome 4 [RCV003469839] Chr22:26466246..26466259 [GRCh38]
Chr22:26862212..26862225 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.669+1G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003469841] Chr22:26468550 [GRCh38]
Chr22:26864516 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.501+15C>A single nucleotide variant not provided [RCV003569451] Chr22:26472287 [GRCh38]
Chr22:26868253 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1955+17C>G single nucleotide variant not provided [RCV003875249] Chr22:26457842 [GRCh38]
Chr22:26853808 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.381_382del (p.Tyr127_Glu128delinsTer) deletion Hermansky-Pudlak syndrome 4 [RCV003469830] Chr22:26472834..26472835 [GRCh38]
Chr22:26868800..26868801 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003469832] Chr22:26464540 [GRCh38]
Chr22:26860506 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.133-2A>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003469833]|not provided [RCV003689091] Chr22:26477138 [GRCh38]
Chr22:26873104 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.844C>T (p.Gln282Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003469838] Chr22:26464786 [GRCh38]
Chr22:26860752 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.735T>C (p.Ile245=) single nucleotide variant not provided [RCV003570787] Chr22:26465523 [GRCh38]
Chr22:26861489 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.795G>A (p.Gln265=) single nucleotide variant not provided [RCV003872853] Chr22:26465463 [GRCh38]
Chr22:26861429 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.384+14G>T single nucleotide variant not provided [RCV003691511] Chr22:26472818 [GRCh38]
Chr22:26868784 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.316A>T (p.Lys106Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003469829] Chr22:26472900 [GRCh38]
Chr22:26868866 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.1156del (p.His386fs) deletion Hermansky-Pudlak syndrome 4 [RCV003469831] Chr22:26464474 [GRCh38]
Chr22:26860440 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003469835]|not provided [RCV003549101] Chr22:26464300 [GRCh38]
Chr22:26860266 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_022081.6(HPS4):c.758_759dup (p.Glu254fs) microsatellite Hermansky-Pudlak syndrome 4 [RCV003469837] Chr22:26465498..26465499 [GRCh38]
Chr22:26861464..26861465 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.42-2A>G single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003469840] Chr22:26479357 [GRCh38]
Chr22:26875323 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.412del (p.Glu138fs) deletion Hermansky-Pudlak syndrome 4 [RCV003461734] Chr22:26472391 [GRCh38]
Chr22:26868357 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.42-2A>C single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003461738] Chr22:26479357 [GRCh38]
Chr22:26875323 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.834_865del (p.Asp278fs) deletion Hermansky-Pudlak syndrome 4 [RCV003469842] Chr22:26464765..26464796 [GRCh38]
Chr22:26860731..26860762 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.1670C>G (p.Ala557Gly) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003486370] Chr22:26463960 [GRCh38]
Chr22:26859926 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003461730] Chr22:26464221 [GRCh38]
Chr22:26860187 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.502-2A>T single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003461733] Chr22:26470815 [GRCh38]
Chr22:26866781 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.132+1G>A single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003461737] Chr22:26479264 [GRCh38]
Chr22:26875230 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.232A>T (p.Arg78Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003461731] Chr22:26477037 [GRCh38]
Chr22:26873003 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.446del (p.Asn149fs) deletion Hermansky-Pudlak syndrome 4 [RCV003461732] Chr22:26472357 [GRCh38]
Chr22:26868323 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.851A>G (p.His284Arg) single nucleotide variant not specified [RCV003405129] Chr22:26464779 [GRCh38]
Chr22:26860745 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.348dup (p.Asn117Ter) duplication Hermansky-Pudlak syndrome 4 [RCV003469828] Chr22:26472867..26472868 [GRCh38]
Chr22:26868833..26868834 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003469834] Chr22:26457890 [GRCh38]
Chr22:26853856 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter) single nucleotide variant Hermansky-Pudlak syndrome 4 [RCV003469836] Chr22:26457941 [GRCh38]
Chr22:26853907 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.285C>T (p.Gly95=) single nucleotide variant not provided [RCV003693043] Chr22:26472931 [GRCh38]
Chr22:26868897 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.792A>G (p.Glu264=) single nucleotide variant not provided [RCV003693188] Chr22:26465466 [GRCh38]
Chr22:26861432 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1530A>G (p.Ser510=) single nucleotide variant not provided [RCV003577277] Chr22:26464100 [GRCh38]
Chr22:26860066 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.670-15T>C single nucleotide variant not specified [RCV003490778] Chr22:26466277 [GRCh38]
Chr22:26862243 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1413G>A (p.Leu471=) single nucleotide variant not provided [RCV003661798] Chr22:26464217 [GRCh38]
Chr22:26860183 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.804-8T>C single nucleotide variant not provided [RCV003544970] Chr22:26464834 [GRCh38]
Chr22:26860800 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.327G>C (p.Leu109=) single nucleotide variant not provided [RCV003878585] Chr22:26472889 [GRCh38]
Chr22:26868855 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1854G>A (p.Leu618=) single nucleotide variant not provided [RCV003579192] Chr22:26457960 [GRCh38]
Chr22:26853926 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.385-16G>T single nucleotide variant not provided [RCV003687703] Chr22:26472434 [GRCh38]
Chr22:26868400 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.804-16CT[2] microsatellite not provided [RCV003695162] Chr22:26464837..26464838 [GRCh38]
Chr22:26860803..26860804 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1353C>T (p.Ser451=) single nucleotide variant not provided [RCV003544063] Chr22:26464277 [GRCh38]
Chr22:26860243 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.936A>G (p.Thr312=) single nucleotide variant not provided [RCV003877376] Chr22:26464694 [GRCh38]
Chr22:26860660 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1713+19_1713+21del deletion not provided [RCV003714090] Chr22:26463896..26463898 [GRCh38]
Chr22:26859862..26859864 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1896C>T (p.Ala632=) single nucleotide variant not provided [RCV003572866] Chr22:26457918 [GRCh38]
Chr22:26853884 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.132+13G>A single nucleotide variant not provided [RCV003715665] Chr22:26479252 [GRCh38]
Chr22:26875218 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1847-17G>T single nucleotide variant not provided [RCV003714407] Chr22:26457984 [GRCh38]
Chr22:26853950 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.707-7A>T single nucleotide variant not provided [RCV003544239] Chr22:26465558 [GRCh38]
Chr22:26861524 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1632C>T (p.Tyr544=) single nucleotide variant not provided [RCV003828860] Chr22:26463998 [GRCh38]
Chr22:26859964 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1852C>T (p.Leu618=) single nucleotide variant not provided [RCV003660546] Chr22:26457962 [GRCh38]
Chr22:26853928 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1714-17C>T single nucleotide variant not provided [RCV003573756] Chr22:26458594 [GRCh38]
Chr22:26854560 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.686_687delinsGT (p.Glu229Gly) indel not provided [RCV003544350] Chr22:26466245..26466246 [GRCh38]
Chr22:26862211..26862212 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2046C>T (p.Phe682=) single nucleotide variant not provided [RCV003546433] Chr22:26453314 [GRCh38]
Chr22:26849280 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1714-11C>G single nucleotide variant not provided [RCV003662145] Chr22:26458588 [GRCh38]
Chr22:26854554 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2076C>T (p.Leu692=) single nucleotide variant not provided [RCV003878539] Chr22:26453284 [GRCh38]
Chr22:26849250 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1935G>T (p.Ala645=) single nucleotide variant not provided [RCV003715902] Chr22:26457879 [GRCh38]
Chr22:26853845 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.511C>T (p.Leu171=) single nucleotide variant not provided [RCV003829526] Chr22:26470804 [GRCh38]
Chr22:26866770 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.921C>G (p.Thr307=) single nucleotide variant not provided [RCV003695273] Chr22:26464709 [GRCh38]
Chr22:26860675 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1197T>A (p.Ala399=) single nucleotide variant not provided [RCV003881493] Chr22:26464433 [GRCh38]
Chr22:26860399 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.861T>G (p.Gly287=) single nucleotide variant not provided [RCV003687809] Chr22:26464769 [GRCh38]
Chr22:26860735 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.670-20C>T single nucleotide variant not provided [RCV003662329] Chr22:26466282 [GRCh38]
Chr22:26862248 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.829C>T (p.Gln277Ter) single nucleotide variant not provided [RCV003716057] Chr22:26464801 [GRCh38]
Chr22:26860767 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.1324C>G (p.Gln442Glu) single nucleotide variant not provided [RCV003576883] Chr22:26464306 [GRCh38]
Chr22:26860272 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.596+19C>G single nucleotide variant not provided [RCV003578152] Chr22:26470700 [GRCh38]
Chr22:26866666 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.502-20A>T single nucleotide variant not provided [RCV003693489] Chr22:26470833 [GRCh38]
Chr22:26866799 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1847-10C>A single nucleotide variant not provided [RCV003690712] Chr22:26457977 [GRCh38]
Chr22:26853943 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1656G>T (p.Val552=) single nucleotide variant not provided [RCV003544604] Chr22:26463974 [GRCh38]
Chr22:26859940 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1710A>G (p.Glu570=) single nucleotide variant not provided [RCV003690886] Chr22:26463920 [GRCh38]
Chr22:26859886 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1782G>A (p.Glu594=) single nucleotide variant not provided [RCV003830638] Chr22:26458509 [GRCh38]
Chr22:26854475 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.42-17C>T single nucleotide variant not provided [RCV003663113] Chr22:26479372 [GRCh38]
Chr22:26875338 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.133-20A>C single nucleotide variant not provided [RCV003716246] Chr22:26477156 [GRCh38]
Chr22:26873122 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1707G>A (p.Glu569=) single nucleotide variant not provided [RCV003713677] Chr22:26463923 [GRCh38]
Chr22:26859889 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1923C>T (p.Ala641=) single nucleotide variant not provided [RCV003663184] Chr22:26457891 [GRCh38]
Chr22:26853857 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.99A>G (p.Thr33=) single nucleotide variant not provided [RCV003660139] Chr22:26479298 [GRCh38]
Chr22:26875264 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.42-5G>C single nucleotide variant not provided [RCV003688227] Chr22:26479360 [GRCh38]
Chr22:26875326 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.41+18C>T single nucleotide variant not provided [RCV003573727] Chr22:26481704 [GRCh38]
Chr22:26877670 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.125C>T (p.Pro42Leu) single nucleotide variant not provided [RCV003547712] Chr22:26479272 [GRCh38]
Chr22:26875238 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.714A>G (p.Ala238=) single nucleotide variant not provided [RCV003544888] Chr22:26465544 [GRCh38]
Chr22:26861510 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1833G>A (p.Gln611=) single nucleotide variant not provided [RCV003545013] Chr22:26458458 [GRCh38]
Chr22:26854424 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1714-10C>G single nucleotide variant not provided [RCV003688770] Chr22:26458587 [GRCh38]
Chr22:26854553 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.840A>G (p.Ser280=) single nucleotide variant not provided [RCV003691074] Chr22:26464790 [GRCh38]
Chr22:26860756 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.803+11G>A single nucleotide variant not provided [RCV003688598] Chr22:26465444 [GRCh38]
Chr22:26861410 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.942T>A (p.Pro314=) single nucleotide variant not provided [RCV003692675] Chr22:26464688 [GRCh38]
Chr22:26860654 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2064C>G (p.Gly688=) single nucleotide variant not provided [RCV003573724] Chr22:26453296 [GRCh38]
Chr22:26849262 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.123T>C (p.Tyr41=) single nucleotide variant not provided [RCV003661421] Chr22:26479274 [GRCh38]
Chr22:26875240 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.117C>G (p.Tyr39Ter) single nucleotide variant not provided [RCV003544615] Chr22:26479280 [GRCh38]
Chr22:26875246 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.1881C>T (p.Arg627=) single nucleotide variant not provided [RCV003827283] Chr22:26457933 [GRCh38]
Chr22:26853899 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2064C>T (p.Gly688=) single nucleotide variant not provided [RCV003826741] Chr22:26453296 [GRCh38]
Chr22:26849262 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1399A>C (p.Arg467=) single nucleotide variant not provided [RCV003715381] Chr22:26464231 [GRCh38]
Chr22:26860197 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1818_1825dup (p.Arg609fs) duplication not provided [RCV003547530] Chr22:26458465..26458466 [GRCh38]
Chr22:26854431..26854432 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.804-5G>A single nucleotide variant not provided [RCV003827338] Chr22:26464831 [GRCh38]
Chr22:26860797 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1714-13T>C single nucleotide variant not provided [RCV003662244] Chr22:26458590 [GRCh38]
Chr22:26854556 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.571G>A (p.Ala191Thr) single nucleotide variant not specified [RCV003490845] Chr22:26470744 [GRCh38]
Chr22:26866710 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.573T>C (p.Ala191=) single nucleotide variant not provided [RCV003712813] Chr22:26470742 [GRCh38]
Chr22:26866708 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.729C>T (p.Val243=) single nucleotide variant not provided [RCV003714063] Chr22:26465529 [GRCh38]
Chr22:26861495 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.502-8C>T single nucleotide variant not provided [RCV003824583] Chr22:26470821 [GRCh38]
Chr22:26866787 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1635T>A (p.Thr545=) single nucleotide variant not provided [RCV003661220] Chr22:26463995 [GRCh38]
Chr22:26859961 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1695C>T (p.Ser565=) single nucleotide variant not provided [RCV003573415] Chr22:26463935 [GRCh38]
Chr22:26859901 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.840A>C (p.Ser280=) single nucleotide variant not provided [RCV003880037] Chr22:26464790 [GRCh38]
Chr22:26860756 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1554T>C (p.Ala518=) single nucleotide variant not provided [RCV003693440] Chr22:26464076 [GRCh38]
Chr22:26860042 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2109C>T (p.His703=) single nucleotide variant not provided [RCV003878307] Chr22:26453251 [GRCh38]
Chr22:26849217 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1399A>G (p.Arg467Gly) single nucleotide variant not provided [RCV003699849] Chr22:26464231 [GRCh38]
Chr22:26860197 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.132+12A>G single nucleotide variant not provided [RCV003833981] Chr22:26479253 [GRCh38]
Chr22:26875219 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.132+10A>T single nucleotide variant not provided [RCV003833109] Chr22:26479255 [GRCh38]
Chr22:26875221 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.669+12T>C single nucleotide variant not provided [RCV003834110] Chr22:26468539 [GRCh38]
Chr22:26864505 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1926G>A (p.Gln642=) single nucleotide variant not provided [RCV003549405] Chr22:26457888 [GRCh38]
Chr22:26853854 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1032T>G (p.Ser344=) single nucleotide variant not provided [RCV003664865] Chr22:26464598 [GRCh38]
Chr22:26860564 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1714-8C>G single nucleotide variant not provided [RCV003698326] Chr22:26458585 [GRCh38]
Chr22:26854551 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.502-5C>A single nucleotide variant not provided [RCV003664967] Chr22:26470818 [GRCh38]
Chr22:26866784 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.735T>A (p.Ile245=) single nucleotide variant not provided [RCV003697430] Chr22:26465523 [GRCh38]
Chr22:26861489 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.596+17C>G single nucleotide variant not provided [RCV003697512] Chr22:26470702 [GRCh38]
Chr22:26866668 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1218C>G (p.Leu406=) single nucleotide variant not provided [RCV003832628] Chr22:26464412 [GRCh38]
Chr22:26860378 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.654A>G (p.Thr218=) single nucleotide variant not provided [RCV003549734] Chr22:26468566 [GRCh38]
Chr22:26864532 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.306T>C (p.Asp102=) single nucleotide variant not provided [RCV003726899] Chr22:26472910 [GRCh38]
Chr22:26868876 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1846+12C>A single nucleotide variant not provided [RCV003701164] Chr22:26458433 [GRCh38]
Chr22:26854399 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.277-10C>T single nucleotide variant not provided [RCV003674379] Chr22:26472949 [GRCh38]
Chr22:26868915 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.803+15AG[2] microsatellite not provided [RCV003832521] Chr22:26465435..26465436 [GRCh38]
Chr22:26861401..26861402 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.582C>T (p.Ile194=) single nucleotide variant not provided [RCV003703553] Chr22:26470733 [GRCh38]
Chr22:26866699 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.642G>C (p.Leu214=) single nucleotide variant not provided [RCV003580758] Chr22:26468578 [GRCh38]
Chr22:26864544 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.597-5_597-3del microsatellite not provided [RCV003670312] Chr22:26468626..26468628 [GRCh38]
Chr22:26864592..26864594 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1847-17_1847-15del deletion not provided [RCV003837181] Chr22:26457982..26457984 [GRCh38]
Chr22:26853948..26853950 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2025T>C (p.Pro675=) single nucleotide variant not provided [RCV003674322] Chr22:26453335 [GRCh38]
Chr22:26849301 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.277-19C>A single nucleotide variant not provided [RCV003670344] Chr22:26472958 [GRCh38]
Chr22:26868924 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1955+11C>T single nucleotide variant not provided [RCV003856222] Chr22:26457848 [GRCh38]
Chr22:26853814 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.627C>T (p.Leu209=) single nucleotide variant not provided [RCV003832816] Chr22:26468593 [GRCh38]
Chr22:26864559 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.669+15A>G single nucleotide variant not provided [RCV003716762] Chr22:26468536 [GRCh38]
Chr22:26864502 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1847-10C>T single nucleotide variant not provided [RCV003817610] Chr22:26457977 [GRCh38]
Chr22:26853943 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.384+9A>G single nucleotide variant not provided [RCV003674333] Chr22:26472823 [GRCh38]
Chr22:26868789 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.183C>A (p.Val61=) single nucleotide variant not provided [RCV003725205] Chr22:26477086 [GRCh38]
Chr22:26873052 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2073C>T (p.Ser691=) single nucleotide variant not provided [RCV003851370] Chr22:26453287 [GRCh38]
Chr22:26849253 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1968G>A (p.Thr656=) single nucleotide variant not provided [RCV003670174] Chr22:26453392 [GRCh38]
Chr22:26849358 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.558G>T (p.Ser186=) single nucleotide variant not provided [RCV003671653] Chr22:26470757 [GRCh38]
Chr22:26866723 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.41+20A>G single nucleotide variant not provided [RCV003672395] Chr22:26481702 [GRCh38]
Chr22:26877668 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.804-20A>G single nucleotide variant not provided [RCV003696960] Chr22:26464846 [GRCh38]
Chr22:26860812 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1965C>T (p.Ser655=) single nucleotide variant not provided [RCV003667448] Chr22:26453395 [GRCh38]
Chr22:26849361 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.502-19T>C single nucleotide variant not provided [RCV003659174] Chr22:26470832 [GRCh38]
Chr22:26866798 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1842G>C (p.Leu614=) single nucleotide variant not provided [RCV003674067] Chr22:26458449 [GRCh38]
Chr22:26854415 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.226C>G (p.Arg76Gly) single nucleotide variant not provided [RCV003673871] Chr22:26477043 [GRCh38]
Chr22:26873009 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1113A>G (p.Glu371=) single nucleotide variant not provided [RCV003557806] Chr22:26464517 [GRCh38]
Chr22:26860483 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1869C>T (p.Thr623=) single nucleotide variant not provided [RCV003671924] Chr22:26457945 [GRCh38]
Chr22:26853911 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.669+13C>T single nucleotide variant not provided [RCV003663890] Chr22:26468538 [GRCh38]
Chr22:26864504 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1503C>T (p.His501=) single nucleotide variant not provided [RCV003670961] Chr22:26464127 [GRCh38]
Chr22:26860093 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1224C>T (p.Ala408=) single nucleotide variant not provided [RCV003835458] Chr22:26464406 [GRCh38]
Chr22:26860372 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1071G>T (p.Gly357=) single nucleotide variant not provided [RCV003701442] Chr22:26464559 [GRCh38]
Chr22:26860525 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.729C>G (p.Val243=) single nucleotide variant not provided [RCV003672191] Chr22:26465529 [GRCh38]
Chr22:26861495 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2064C>A (p.Gly688=) single nucleotide variant not provided [RCV003700424] Chr22:26453296 [GRCh38]
Chr22:26849262 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.273T>C (p.Leu91=) single nucleotide variant not provided [RCV003580293] Chr22:26476996 [GRCh38]
Chr22:26872962 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1955+5_1955+6dup duplication not provided [RCV003856062] Chr22:26457852..26457853 [GRCh38]
Chr22:26853818..26853819 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.375A>G (p.Leu125=) single nucleotide variant not provided [RCV003561370] Chr22:26472841 [GRCh38]
Chr22:26868807 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.519G>A (p.Leu173=) single nucleotide variant not provided [RCV003560756] Chr22:26470796 [GRCh38]
Chr22:26866762 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1956-17_1956-16del deletion not provided [RCV003670236] Chr22:26453420..26453421 [GRCh38]
Chr22:26849386..26849387 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1847-20_1847-19insG insertion not provided [RCV003837182] Chr22:26457986..26457987 [GRCh38]
Chr22:26853952..26853953 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.706+18T>C single nucleotide variant not provided [RCV003837190] Chr22:26466208 [GRCh38]
Chr22:26862174 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1713+17C>G single nucleotide variant not provided [RCV003851384] Chr22:26463900 [GRCh38]
Chr22:26859866 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1903dup (p.Leu635fs) duplication not provided [RCV003700522] Chr22:26457910..26457911 [GRCh38]
Chr22:26853876..26853877 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.1785A>G (p.Ala595=) single nucleotide variant not provided [RCV003724773] Chr22:26458506 [GRCh38]
Chr22:26854472 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1221C>T (p.Ser407=) single nucleotide variant HPS4-related condition [RCV003939158]|not provided [RCV003724069] Chr22:26464409 [GRCh38]
Chr22:26860375 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1955+17C>T single nucleotide variant not provided [RCV003855271] Chr22:26457842 [GRCh38]
Chr22:26853808 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1794G>A (p.Thr598=) single nucleotide variant not provided [RCV003671715] Chr22:26458497 [GRCh38]
Chr22:26854463 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.670-18GT[3] microsatellite not provided [RCV003701062] Chr22:26466273..26466274 [GRCh38]
Chr22:26862239..26862240 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1560C>T (p.Pro520=) single nucleotide variant not provided [RCV003700191] Chr22:26464070 [GRCh38]
Chr22:26860036 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1548G>A (p.Gln516=) single nucleotide variant not provided [RCV003701429] Chr22:26464082 [GRCh38]
Chr22:26860048 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1217_1218del (p.Leu406fs) microsatellite not provided [RCV003668563] Chr22:26464412..26464413 [GRCh38]
Chr22:26860378..26860379 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.1305C>T (p.Thr435=) single nucleotide variant not provided [RCV003701516] Chr22:26464325 [GRCh38]
Chr22:26860291 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.42-15C>T single nucleotide variant not provided [RCV003668247] Chr22:26479370 [GRCh38]
Chr22:26875336 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.393T>G (p.Ser131=) single nucleotide variant not provided [RCV003698512] Chr22:26472410 [GRCh38]
Chr22:26868376 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.596+10T>C single nucleotide variant not provided [RCV003837422] Chr22:26470709 [GRCh38]
Chr22:26866675 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.867C>T (p.Ser289=) single nucleotide variant not provided [RCV003672311] Chr22:26464763 [GRCh38]
Chr22:26860729 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1971T>A (p.Ala657=) single nucleotide variant not provided [RCV003659211] Chr22:26453389 [GRCh38]
Chr22:26849355 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.707-20A>G single nucleotide variant not provided [RCV003701602] Chr22:26465571 [GRCh38]
Chr22:26861537 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.384+10T>C single nucleotide variant not provided [RCV003659145] Chr22:26472822 [GRCh38]
Chr22:26868788 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1602C>T (p.Ser534=) single nucleotide variant not provided [RCV003849468] Chr22:26464028 [GRCh38]
Chr22:26859994 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1932C>T (p.Pro644=) single nucleotide variant not provided [RCV003659052] Chr22:26457882 [GRCh38]
Chr22:26853848 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.540G>C (p.Leu180=) single nucleotide variant not provided [RCV003671218] Chr22:26470775 [GRCh38]
Chr22:26866741 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.132+9C>T single nucleotide variant not provided [RCV003701690] Chr22:26479256 [GRCh38]
Chr22:26875222 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1995C>T (p.Ile665=) single nucleotide variant not provided [RCV003665181] Chr22:26453365 [GRCh38]
Chr22:26849331 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.717G>A (p.Leu239=) single nucleotide variant not provided [RCV003666448] Chr22:26465541 [GRCh38]
Chr22:26861507 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1563T>C (p.Ser521=) single nucleotide variant not provided [RCV003678569] Chr22:26464067 [GRCh38]
Chr22:26860033 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1659G>A (p.Leu553=) single nucleotide variant not provided [RCV003848399] Chr22:26463971 [GRCh38]
Chr22:26859937 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1245G>A (p.Thr415=) single nucleotide variant not provided [RCV003712052] Chr22:26464385 [GRCh38]
Chr22:26860351 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.804-12C>G single nucleotide variant not provided [RCV003542960] Chr22:26464838 [GRCh38]
Chr22:26860804 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.132+8A>G single nucleotide variant not provided [RCV003848421] Chr22:26479257 [GRCh38]
Chr22:26875223 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1714-9C>A single nucleotide variant not provided [RCV003866312] Chr22:26458586 [GRCh38]
Chr22:26854552 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1258A>G (p.Thr420Ala) single nucleotide variant not provided [RCV003732747] Chr22:26464372 [GRCh38]
Chr22:26860338 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.640C>T (p.Leu214=) single nucleotide variant not provided [RCV003706018] Chr22:26468580 [GRCh38]
Chr22:26864546 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1971T>C (p.Ala657=) single nucleotide variant not provided [RCV003707633] Chr22:26453389 [GRCh38]
Chr22:26849355 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.723G>A (p.Pro241=) single nucleotide variant not provided [RCV003733779] Chr22:26465535 [GRCh38]
Chr22:26861501 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.42-5G>A single nucleotide variant not provided [RCV003550675] Chr22:26479360 [GRCh38]
Chr22:26875326 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1419C>T (p.Arg473=) single nucleotide variant not provided [RCV003709002] Chr22:26464211 [GRCh38]
Chr22:26860177 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.839C>G (p.Ser280Ter) single nucleotide variant not provided [RCV003554525] Chr22:26464791 [GRCh38]
Chr22:26860757 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.270C>T (p.Tyr90=) single nucleotide variant not provided [RCV003704037] Chr22:26476999 [GRCh38]
Chr22:26872965 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.145C>T (p.Gln49Ter) single nucleotide variant not provided [RCV003681367] Chr22:26477124 [GRCh38]
Chr22:26873090 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.315C>T (p.Cys105=) single nucleotide variant not provided [RCV003553079] Chr22:26472901 [GRCh38]
Chr22:26868867 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1980C>T (p.Ala660=) single nucleotide variant not provided [RCV003732178] Chr22:26453380 [GRCh38]
Chr22:26849346 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2088A>G (p.Ala696=) single nucleotide variant not provided [RCV003564414] Chr22:26453272 [GRCh38]
Chr22:26849238 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.219T>G (p.Thr73=) single nucleotide variant not provided [RCV003860633] Chr22:26477050 [GRCh38]
Chr22:26873016 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.531C>T (p.Ala177=) single nucleotide variant not provided [RCV003709709] Chr22:26470784 [GRCh38]
Chr22:26866750 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.444A>G (p.Lys148=) single nucleotide variant not provided [RCV003859064] Chr22:26472359 [GRCh38]
Chr22:26868325 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1320A>G (p.Gln440=) single nucleotide variant not provided [RCV003727390] Chr22:26464310 [GRCh38]
Chr22:26860276 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.819A>G (p.Pro273=) single nucleotide variant not provided [RCV003674590] Chr22:26464811 [GRCh38]
Chr22:26860777 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1101C>G (p.Leu367=) single nucleotide variant not provided [RCV003707514] Chr22:26464529 [GRCh38]
Chr22:26860495 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.596+12C>T single nucleotide variant not provided [RCV003676180] Chr22:26470707 [GRCh38]
Chr22:26866673 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1116C>T (p.Ile372=) single nucleotide variant not provided [RCV003709866] Chr22:26464514 [GRCh38]
Chr22:26860480 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1869C>G (p.Thr623=) single nucleotide variant not provided [RCV003863552] Chr22:26457945 [GRCh38]
Chr22:26853911 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.108C>T (p.Gly36=) single nucleotide variant not provided [RCV003734229] Chr22:26479289 [GRCh38]
Chr22:26875255 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.141A>G (p.Leu47=) single nucleotide variant not provided [RCV003568238] Chr22:26477128 [GRCh38]
Chr22:26873094 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1234C>T (p.Leu412=) single nucleotide variant not provided [RCV003683210] Chr22:26464396 [GRCh38]
Chr22:26860362 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1714-8C>T single nucleotide variant not provided [RCV003676990] Chr22:26458585 [GRCh38]
Chr22:26854551 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1059C>T (p.Ser353=) single nucleotide variant not provided [RCV003819878] Chr22:26464571 [GRCh38]
Chr22:26860537 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1896C>A (p.Ala632=) single nucleotide variant not provided [RCV003733424] Chr22:26457918 [GRCh38]
Chr22:26853884 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1011G>A (p.Arg337=) single nucleotide variant not provided [RCV003733468] Chr22:26464619 [GRCh38]
Chr22:26860585 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1956-7C>T single nucleotide variant not provided [RCV003712319] Chr22:26453411 [GRCh38]
Chr22:26849377 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.707-18A>G single nucleotide variant not provided [RCV003675570] Chr22:26465569 [GRCh38]
Chr22:26861535 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.804-9G>A single nucleotide variant not provided [RCV003843216] Chr22:26464835 [GRCh38]
Chr22:26860801 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1846+13C>T single nucleotide variant not provided [RCV003677045] Chr22:26458432 [GRCh38]
Chr22:26854398 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.707-17T>C single nucleotide variant not provided [RCV003844769] Chr22:26465568 [GRCh38]
Chr22:26861534 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.126T>C (p.Pro42=) single nucleotide variant not provided [RCV003568083] Chr22:26479271 [GRCh38]
Chr22:26875237 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1389A>G (p.Arg463=) single nucleotide variant not provided [RCV003867403] Chr22:26464241 [GRCh38]
Chr22:26860207 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1383C>T (p.Leu461=) single nucleotide variant not provided [RCV003703826] Chr22:26464247 [GRCh38]
Chr22:26860213 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.804-19del deletion not provided [RCV003867447] Chr22:26464845 [GRCh38]
Chr22:26860811 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.309C>T (p.Val103=) single nucleotide variant not provided [RCV003733363] Chr22:26472907 [GRCh38]
Chr22:26868873 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1714-16C>T single nucleotide variant not provided [RCV003866878] Chr22:26458593 [GRCh38]
Chr22:26854559 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.804-2A>T single nucleotide variant not provided [RCV003708308] Chr22:26464828 [GRCh38]
Chr22:26860794 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_022081.6(HPS4):c.277-8C>T single nucleotide variant not provided [RCV003867319] Chr22:26472947 [GRCh38]
Chr22:26868913 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.41+13G>A single nucleotide variant not provided [RCV003721163] Chr22:26481709 [GRCh38]
Chr22:26877675 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1278C>T (p.Arg426=) single nucleotide variant not provided [RCV003710330] Chr22:26464352 [GRCh38]
Chr22:26860318 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1164C>T (p.Ala388=) single nucleotide variant not provided [RCV003871358] Chr22:26464466 [GRCh38]
Chr22:26860432 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.596+18C>G single nucleotide variant not provided [RCV003868621] Chr22:26470701 [GRCh38]
Chr22:26866667 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.404T>G (p.Leu135Arg) single nucleotide variant not provided [RCV003868622] Chr22:26472399 [GRCh38]
Chr22:26868365 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1635T>C (p.Thr545=) single nucleotide variant not provided [RCV003567466] Chr22:26463995 [GRCh38]
Chr22:26859961 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.42-15C>G single nucleotide variant not provided [RCV003681609] Chr22:26479370 [GRCh38]
Chr22:26875336 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.132+10A>G single nucleotide variant not provided [RCV003681546] Chr22:26479255 [GRCh38]
Chr22:26875221 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.18C>T (p.Ser6=) single nucleotide variant not provided [RCV003683691] Chr22:26481745 [GRCh38]
Chr22:26877711 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.803+18G>A single nucleotide variant not provided [RCV003711148] Chr22:26465437 [GRCh38]
Chr22:26861403 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.42-19dup duplication not provided [RCV003567664] Chr22:26479373..26479374 [GRCh38]
Chr22:26875339..26875340 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.804-11T>C single nucleotide variant not provided [RCV003683662] Chr22:26464837 [GRCh38]
Chr22:26860803 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.670-11T>C single nucleotide variant not provided [RCV003869097] Chr22:26466273 [GRCh38]
Chr22:26862239 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1458G>A (p.Gly486=) single nucleotide variant not provided [RCV003860631] Chr22:26464172 [GRCh38]
Chr22:26860138 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.975C>T (p.Asn325=) single nucleotide variant not provided [RCV003722433] Chr22:26464655 [GRCh38]
Chr22:26860621 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1085T>A (p.Phe362Tyr) single nucleotide variant not provided [RCV003860997] Chr22:26464545 [GRCh38]
Chr22:26860511 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1419C>A (p.Arg473=) single nucleotide variant not provided [RCV003719113] Chr22:26464211 [GRCh38]
Chr22:26860177 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1386C>T (p.Pro462=) single nucleotide variant not provided [RCV003721287] Chr22:26464244 [GRCh38]
Chr22:26860210 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.432G>A (p.Glu144=) single nucleotide variant not provided [RCV003683984] Chr22:26472371 [GRCh38]
Chr22:26868337 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1212A>G (p.Ala404=) single nucleotide variant not provided [RCV003869748] Chr22:26464418 [GRCh38]
Chr22:26860384 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.66T>C (p.Asp22=) single nucleotide variant not provided [RCV003551905] Chr22:26479331 [GRCh38]
Chr22:26875297 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.778G>A (p.Glu260Lys) single nucleotide variant not provided [RCV003847217] Chr22:26465480 [GRCh38]
Chr22:26861446 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1557C>T (p.Gly519=) single nucleotide variant not provided [RCV003818507] Chr22:26464073 [GRCh38]
Chr22:26860039 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.501+7T>C single nucleotide variant not provided [RCV003674935] Chr22:26472295 [GRCh38]
Chr22:26868261 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.49del (p.Tyr17fs) deletion not provided [RCV003704324] Chr22:26479348 [GRCh38]
Chr22:26875314 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.670-10T>G single nucleotide variant not provided [RCV003732043] Chr22:26466272 [GRCh38]
Chr22:26862238 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1101C>T (p.Leu367=) single nucleotide variant not provided [RCV003847948] Chr22:26464529 [GRCh38]
Chr22:26860495 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1284C>T (p.Pro428=) single nucleotide variant not provided [RCV003722229] Chr22:26464346 [GRCh38]
Chr22:26860312 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1488G>A (p.Gly496=) single nucleotide variant not provided [RCV003842475] Chr22:26464142 [GRCh38]
Chr22:26860108 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.706+14C>T single nucleotide variant not provided [RCV003841163] Chr22:26466212 [GRCh38]
Chr22:26862178 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.84A>G (p.Glu28=) single nucleotide variant not provided [RCV003681582] Chr22:26479313 [GRCh38]
Chr22:26875279 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.777C>T (p.His259=) single nucleotide variant not provided [RCV003707172] Chr22:26465481 [GRCh38]
Chr22:26861447 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1905G>A (p.Leu635=) single nucleotide variant not provided [RCV003564136] Chr22:26457909 [GRCh38]
Chr22:26853875 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1846+15A>C single nucleotide variant not provided [RCV003862004] Chr22:26458430 [GRCh38]
Chr22:26854396 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.501+11C>T single nucleotide variant not provided [RCV003680675] Chr22:26472291 [GRCh38]
Chr22:26868257 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.133-14C>G single nucleotide variant not provided [RCV003711629] Chr22:26477150 [GRCh38]
Chr22:26873116 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.921C>A (p.Thr307=) single nucleotide variant not provided [RCV003865070] Chr22:26464709 [GRCh38]
Chr22:26860675 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1155T>C (p.Gly385=) single nucleotide variant not provided [RCV003568841] Chr22:26464475 [GRCh38]
Chr22:26860441 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.828C>T (p.Leu276=) single nucleotide variant not provided [RCV003858216] Chr22:26464802 [GRCh38]
Chr22:26860768 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.277-11dup duplication not provided [RCV003707199] Chr22:26472949..26472950 [GRCh38]
Chr22:26868915..26868916 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1529C>G (p.Ser510Ter) single nucleotide variant not provided [RCV003564699] Chr22:26464101 [GRCh38]
Chr22:26860067 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.861T>C (p.Gly287=) single nucleotide variant not provided [RCV003853632] Chr22:26464769 [GRCh38]
Chr22:26860735 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.2017C>T (p.Leu673=) single nucleotide variant not provided [RCV003706364] Chr22:26453343 [GRCh38]
Chr22:26849309 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.670-14G>A single nucleotide variant not provided [RCV003707893] Chr22:26466276 [GRCh38]
Chr22:26862242 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1821C>T (p.Tyr607=) single nucleotide variant not provided [RCV003864369] Chr22:26458470 [GRCh38]
Chr22:26854436 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1890C>G (p.Leu630=) single nucleotide variant not provided [RCV003710643] Chr22:26457924 [GRCh38]
Chr22:26853890 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.707-19T>C single nucleotide variant not provided [RCV003564924] Chr22:26465570 [GRCh38]
Chr22:26861536 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1701C>T (p.Ala567=) single nucleotide variant not provided [RCV003853770] Chr22:26463929 [GRCh38]
Chr22:26859895 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.277-4A>G single nucleotide variant not provided [RCV003846796] Chr22:26472943 [GRCh38]
Chr22:26868909 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1735C>T (p.Leu579=) single nucleotide variant not provided [RCV003709611] Chr22:26458556 [GRCh38]
Chr22:26854522 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.706+8G>A single nucleotide variant not provided [RCV003706653] Chr22:26466218 [GRCh38]
Chr22:26862184 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1134G>A (p.Gln378=) single nucleotide variant not provided [RCV003678351] Chr22:26464496 [GRCh38]
Chr22:26860462 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.597-14G>A single nucleotide variant not provided [RCV003552309] Chr22:26468637 [GRCh38]
Chr22:26864603 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1244C>G (p.Thr415Arg) single nucleotide variant not provided [RCV003843781] Chr22:26464386 [GRCh38]
Chr22:26860352 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.1341T>G (p.Pro447=) single nucleotide variant not provided [RCV003678695] Chr22:26464289 [GRCh38]
Chr22:26860255 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.674T>G (p.Leu225Arg) single nucleotide variant not provided [RCV003731476] Chr22:26466258 [GRCh38]
Chr22:26862224 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_022081.6(HPS4):c.385-17G>A single nucleotide variant not provided [RCV003845361] Chr22:26472435 [GRCh38]
Chr22:26868401 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.41+16T>G single nucleotide variant not provided [RCV003861805] Chr22:26481706 [GRCh38]
Chr22:26877672 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.1187del (p.Asp396fs) deletion not provided [RCV003563036] Chr22:26464443 [GRCh38]
Chr22:26860409 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_022081.6(HPS4):c.670-4T>G single nucleotide variant HPS4-related condition [RCV003944622] Chr22:26466266 [GRCh38]
Chr22:26862232 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.*39A>G single nucleotide variant HPS4-related condition [RCV003961968] Chr22:26453194 [GRCh38]
Chr22:26849160 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.706+119T>C single nucleotide variant HPS4-related condition [RCV003937111] Chr22:26466107 [GRCh38]
Chr22:26862073 [GRCh37]
Chr22:22q12.1		 likely benign
NM_022081.6(HPS4):c.706+125A>G single nucleotide variant HPS4-related condition [RCV003896687] Chr22:26466101 [GRCh38]
Chr22:26862067 [GRCh37]
Chr22:22q12.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9800
Count of miRNA genes:1315
Interacting mature miRNAs:1713
Transcripts:ENST00000336873, ENST00000398141, ENST00000398145, ENST00000402105, ENST00000422379, ENST00000429411, ENST00000439453, ENST00000459918, ENST00000464362, ENST00000466781, ENST00000473782, ENST00000479064, ENST00000481910, ENST00000483631, ENST00000485842, ENST00000491142, ENST00000493455, ENST00000496385, ENST00000519774
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
G20318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,848,191 - 26,848,299UniSTSGRCh37
Build 362225,178,191 - 25,178,299RGDNCBI36
Celera2210,652,073 - 10,652,181RGD
Cytogenetic Map22cen-q12.3UniSTS
HuRef229,795,755 - 9,795,863UniSTS
A005L38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,848,191 - 26,848,299UniSTSGRCh37
Build 362225,178,191 - 25,178,299RGDNCBI36
Celera2210,652,073 - 10,652,181RGD
Cytogenetic Map22cen-q12.3UniSTS
HuRef229,795,755 - 9,795,863UniSTS
GeneMap99-GB4 RH Map2275.11UniSTS
NCBI RH Map2291.4UniSTS
WI-14276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,848,083 - 26,848,207UniSTSGRCh37
Build 362225,178,083 - 25,178,207RGDNCBI36
Celera2210,651,965 - 10,652,089RGD
Cytogenetic Map22cen-q12.3UniSTS
HuRef229,795,647 - 9,795,771UniSTS
GeneMap99-GB4 RH Map2272.13UniSTS
Whitehead-RH Map2264.7UniSTS
D22S560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,863,442 - 26,863,747UniSTSGRCh37
Build 362225,193,442 - 25,193,747RGDNCBI36
Celera2210,667,316 - 10,667,621RGD
Cytogenetic Map22cen-q12.3UniSTS
HuRef229,810,998 - 9,811,303UniSTS
Whitehead-RH Map2264.4UniSTS
RH11272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,848,095 - 26,848,262UniSTSGRCh37
Build 362225,178,095 - 25,178,262RGDNCBI36
Celera2210,651,977 - 10,652,144RGD
Cytogenetic Map22cen-q12.3UniSTS
HuRef229,795,659 - 9,795,826UniSTS
WI-11744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,858,601 - 26,858,730UniSTSGRCh37
Build 362225,188,601 - 25,188,730RGDNCBI36
Celera2210,662,475 - 10,662,604RGD
Cytogenetic Map22cen-q12.3UniSTS
HuRef229,806,157 - 9,806,286UniSTS
GeneMap99-GB4 RH Map2264.67UniSTS
Whitehead-RH Map2262.9UniSTS
HPS4__6584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,848,045 - 26,848,917UniSTSGRCh37
Build 362225,178,045 - 25,178,917RGDNCBI36
Celera2210,651,927 - 10,652,799RGD
HuRef229,795,609 - 9,796,481UniSTS
NIB1482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,848,097 - 26,848,265UniSTSGRCh37
Build 362225,178,097 - 25,178,265RGDNCBI36
Celera2210,651,979 - 10,652,147RGD
Cytogenetic Map22cen-q12.3UniSTS
HuRef229,795,661 - 9,795,829UniSTS
GeneMap99-GB4 RH Map2274.62UniSTS
Whitehead-RH Map2263.4UniSTS
NCBI RH Map2297.3UniSTS
D22S300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372226,847,835 - 26,848,068UniSTSGRCh37
Build 362225,177,835 - 25,178,068RGDNCBI36
Celera2210,651,731 - 10,651,950RGD
Cytogenetic Map22cen-q12.3UniSTS
HuRef229,795,409 - 9,795,632UniSTS
Whitehead-YAC Contig Map22 UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2207 1315 1315 222 1182 98 3505 919 2759 253 1343 1490 138 1051 1970 2
Low 225 1663 408 400 760 366 850 1274 953 165 105 118 33 153 818 2
Below cutoff 2 6 2 7 1 1 8 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY043416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM975247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ185676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336873   ⟹   ENSP00000338457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,452,083 - 26,483,795 (-)Ensembl
RefSeq Acc Id: ENST00000398145   ⟹   ENSP00000381213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,450,882 - 26,483,783 (-)Ensembl
RefSeq Acc Id: ENST00000402105   ⟹   ENSP00000384185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,452,083 - 26,479,681 (-)Ensembl
RefSeq Acc Id: ENST00000422379   ⟹   ENSP00000415081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,783 (-)Ensembl
RefSeq Acc Id: ENST00000429411   ⟹   ENSP00000399705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,452,083 - 26,479,448 (-)Ensembl
RefSeq Acc Id: ENST00000439453   ⟹   ENSP00000406764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,452,083 - 26,483,836 (-)Ensembl
RefSeq Acc Id: ENST00000459918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,465,521 - 26,477,011 (-)Ensembl
RefSeq Acc Id: ENST00000464362   ⟹   ENSP00000430291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,452,083 - 26,479,546 (-)Ensembl
RefSeq Acc Id: ENST00000466781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,452,083 - 26,483,837 (-)Ensembl
RefSeq Acc Id: ENST00000473782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,788 (-)Ensembl
RefSeq Acc Id: ENST00000479064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,481,835 - 26,483,836 (-)Ensembl
RefSeq Acc Id: ENST00000481910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,475,370 - 26,479,411 (-)Ensembl
RefSeq Acc Id: ENST00000483631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,843 (-)Ensembl
RefSeq Acc Id: ENST00000485842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,453,646 - 26,472,950 (-)Ensembl
RefSeq Acc Id: ENST00000491142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,450,902 - 26,483,820 (-)Ensembl
RefSeq Acc Id: ENST00000493455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,444,227 - 26,464,192 (-)Ensembl
RefSeq Acc Id: ENST00000496385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,453,112 - 26,479,488 (-)Ensembl
RefSeq Acc Id: ENST00000519774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,443,423 - 26,464,015 (-)Ensembl
RefSeq Acc Id: ENST00000699226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,443,107 - 26,469,183 (-)Ensembl
RefSeq Acc Id: ENST00000699227   ⟹   ENSP00000514220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,443,107 - 26,483,828 (-)Ensembl
RefSeq Acc Id: ENST00000699228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,443,107 - 26,483,836 (-)Ensembl
RefSeq Acc Id: ENST00000699229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,466,445 (-)Ensembl
RefSeq Acc Id: ENST00000699230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,469,268 (-)Ensembl
RefSeq Acc Id: ENST00000699231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,469,269 (-)Ensembl
RefSeq Acc Id: ENST00000699232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,469,273 (-)Ensembl
RefSeq Acc Id: ENST00000699233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,474,365 (-)Ensembl
RefSeq Acc Id: ENST00000699234   ⟹   ENSP00000514222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,479,851 (-)Ensembl
RefSeq Acc Id: ENST00000699235   ⟹   ENSP00000514224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,805 (-)Ensembl
RefSeq Acc Id: ENST00000699236   ⟹   ENSP00000514225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,805 (-)Ensembl
RefSeq Acc Id: ENST00000699237   ⟹   ENSP00000514226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,827 (-)Ensembl
RefSeq Acc Id: ENST00000699238   ⟹   ENSP00000514227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,828 (-)Ensembl
RefSeq Acc Id: ENST00000699239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,843 (-)Ensembl
RefSeq Acc Id: ENST00000699240   ⟹   ENSP00000514229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,844 (-)Ensembl
RefSeq Acc Id: ENST00000699241   ⟹   ENSP00000514230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,846 (-)Ensembl
RefSeq Acc Id: ENST00000699242   ⟹   ENSP00000514231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,846 (-)Ensembl
RefSeq Acc Id: ENST00000699243   ⟹   ENSP00000514232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,495 - 26,483,849 (-)Ensembl
RefSeq Acc Id: ENST00000699244   ⟹   ENSP00000514233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,500 - 26,483,797 (-)Ensembl
RefSeq Acc Id: ENST00000699245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,516 - 26,459,105 (-)Ensembl
RefSeq Acc Id: ENST00000699246   ⟹   ENSP00000514234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,516 - 26,483,797 (-)Ensembl
RefSeq Acc Id: ENST00000699247   ⟹   ENSP00000514235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,516 - 26,483,827 (-)Ensembl
RefSeq Acc Id: ENST00000699248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,552 - 26,475,285 (-)Ensembl
RefSeq Acc Id: ENST00000699249   ⟹   ENSP00000514236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,552 - 26,483,827 (-)Ensembl
RefSeq Acc Id: ENST00000699250   ⟹   ENSP00000514237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,451,552 - 26,483,931 (-)Ensembl
RefSeq Acc Id: ENST00000699251   ⟹   ENSP00000514238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,452,181 - 26,483,836 (-)Ensembl
RefSeq Acc Id: ENST00000699252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,457,368 - 26,483,836 (-)Ensembl
RefSeq Acc Id: ENST00000699253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,470,680 - 26,483,856 (-)Ensembl
RefSeq Acc Id: ENST00000699254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,470,690 - 26,478,169 (-)Ensembl
RefSeq Acc Id: ENST00000699255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,470,690 - 26,479,482 (-)Ensembl
RefSeq Acc Id: ENST00000699256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,476,619 - 26,483,803 (-)Ensembl
RefSeq Acc Id: ENST00000699257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,478,894 - 26,483,809 (-)Ensembl
RefSeq Acc Id: NM_001349896   ⟹   NP_001336825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349898   ⟹   NP_001336827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349899   ⟹   NP_001336828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349900   ⟹   NP_001336829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349901   ⟹   NP_001336830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349902   ⟹   NP_001336831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349903   ⟹   NP_001336832
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349904   ⟹   NP_001336833
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,443,109 - 26,483,783 (-)NCBI
T2T-CHM13v2.02226,905,547 - 26,946,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349905   ⟹   NP_001336834
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,443,109 - 26,483,863 (-)NCBI
T2T-CHM13v2.02226,905,547 - 26,946,273 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410832   ⟹   NP_001397761
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: NM_022081   ⟹   NP_071364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
GRCh372226,846,848 - 26,879,829 (-)NCBI
Build 362225,177,446 - 25,209,820 (-)NCBI Archive
HuRef229,794,422 - 9,827,382 (-)NCBI
CHM1_12226,806,304 - 26,839,247 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152841   ⟹   NP_690054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,479,681 (-)NCBI
GRCh372226,846,848 - 26,879,829 (-)NCBI
Build 362225,177,446 - 25,205,551 (-)NCBI Archive
HuRef229,794,422 - 9,827,382 (-)NCBI
CHM1_12226,806,304 - 26,835,065 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,942,091 (-)NCBI
Sequence:
RefSeq Acc Id: NR_073135
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
GRCh372226,846,848 - 26,879,829 (-)NCBI
HuRef229,794,422 - 9,827,382 (-)NCBI
CHM1_12226,806,304 - 26,839,247 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
Sequence:
RefSeq Acc Id: NR_073136
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,479,488 (-)NCBI
GRCh372226,846,848 - 26,879,829 (-)NCBI
HuRef229,794,422 - 9,827,382 (-)NCBI
CHM1_12226,806,304 - 26,835,065 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,941,898 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146311
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146312
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146313
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146314
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146315
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146316
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530486   ⟹   XP_011528788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530490   ⟹   XP_011528792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530495   ⟹   XP_011528797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,468,612 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530496   ⟹   XP_011528798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,468,617 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029046   ⟹   XP_016884535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,452,099 - 26,483,783 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029053   ⟹   XP_016884542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,467,899 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441561   ⟹   XP_047297517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441562   ⟹   XP_047297518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441563   ⟹   XP_047297519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
RefSeq Acc Id: XM_047441564   ⟹   XP_047297520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
RefSeq Acc Id: XM_047441565   ⟹   XP_047297521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,452,099 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441566   ⟹   XP_047297522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,452,099 - 26,483,863 (-)NCBI
RefSeq Acc Id: XM_047441567   ⟹   XP_047297523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,452,099 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441568   ⟹   XP_047297524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,452,099 - 26,483,863 (-)NCBI
RefSeq Acc Id: XM_047441569   ⟹   XP_047297525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,452,099 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441571   ⟹   XP_047297527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,443,109 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441572   ⟹   XP_047297528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,443,109 - 26,483,863 (-)NCBI
RefSeq Acc Id: XM_047441573   ⟹   XP_047297529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,443,109 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441574   ⟹   XP_047297530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,443,109 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441575   ⟹   XP_047297531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441576   ⟹   XP_047297532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
RefSeq Acc Id: XM_047441577   ⟹   XP_047297533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441578   ⟹   XP_047297534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,443,109 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441579   ⟹   XP_047297535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,443,109 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441580   ⟹   XP_047297536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,443,109 - 26,483,863 (-)NCBI
RefSeq Acc Id: XM_047441581   ⟹   XP_047297537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441582   ⟹   XP_047297538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XM_047441583   ⟹   XP_047297539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
RefSeq Acc Id: XM_047441584   ⟹   XP_047297540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,467,274 (-)NCBI
RefSeq Acc Id: XM_054326080   ⟹   XP_054182055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326081   ⟹   XP_054182056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
RefSeq Acc Id: XM_054326082   ⟹   XP_054182057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326083   ⟹   XP_054182058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326084   ⟹   XP_054182059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
RefSeq Acc Id: XM_054326085   ⟹   XP_054182060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326086   ⟹   XP_054182061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326087   ⟹   XP_054182062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326088   ⟹   XP_054182063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326089   ⟹   XP_054182064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
RefSeq Acc Id: XM_054326090   ⟹   XP_054182065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
RefSeq Acc Id: XM_054326091   ⟹   XP_054182066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,914,521 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326092   ⟹   XP_054182067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,914,521 - 26,946,273 (-)NCBI
RefSeq Acc Id: XM_054326093   ⟹   XP_054182068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,914,521 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326094   ⟹   XP_054182069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,914,521 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326095   ⟹   XP_054182070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,914,521 - 26,946,273 (-)NCBI
RefSeq Acc Id: XM_054326096   ⟹   XP_054182071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,914,521 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326097   ⟹   XP_054182072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,905,547 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326098   ⟹   XP_054182073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326099   ⟹   XP_054182074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
RefSeq Acc Id: XM_054326100   ⟹   XP_054182075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326101   ⟹   XP_054182076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,905,547 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326102   ⟹   XP_054182077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,905,547 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326103   ⟹   XP_054182078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,905,547 - 26,946,273 (-)NCBI
RefSeq Acc Id: XM_054326104   ⟹   XP_054182079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326105   ⟹   XP_054182080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XM_054326106   ⟹   XP_054182081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
RefSeq Acc Id: XR_001755361
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755364
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007067983
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
RefSeq Acc Id: XR_007067984
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XR_007067985
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,863 (-)NCBI
RefSeq Acc Id: XR_007067986
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XR_007067987
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XR_007067988
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XR_007067989
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,450,882 - 26,483,783 (-)NCBI
RefSeq Acc Id: XR_008485419
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XR_008485420
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XR_008485421
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XR_008485422
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
RefSeq Acc Id: XR_008485423
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XR_008485424
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
RefSeq Acc Id: XR_008485425
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XR_008485426
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XR_008485427
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XR_008485428
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,193 (-)NCBI
RefSeq Acc Id: XR_008485429
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02226,913,314 - 26,946,273 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001336825 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336827 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336829 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336830 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336831 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336832 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336833 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336834 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397761 (Get FASTA)   NCBI Sequence Viewer  
  NP_071364 (Get FASTA)   NCBI Sequence Viewer  
  NP_690054 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528788 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528792 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528797 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528798 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884535 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884542 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297517 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297518 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297519 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297520 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297521 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297522 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297523 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297524 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297525 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297527 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297528 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297529 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297530 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297531 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297532 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297533 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297534 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297535 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297536 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297537 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297538 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297539 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297540 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182059 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182060 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182061 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182062 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182063 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182065 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182066 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182067 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182069 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182070 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182073 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182074 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182075 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182076 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182077 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182078 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182079 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182080 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182081 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH65030 (Get FASTA)   NCBI Sequence Viewer  
  AAK95330 (Get FASTA)   NCBI Sequence Viewer  
  BAB33337 (Get FASTA)   NCBI Sequence Viewer  
  BAB71540 (Get FASTA)   NCBI Sequence Viewer  
  BAF82900 (Get FASTA)   NCBI Sequence Viewer  
  BAG53049 (Get FASTA)   NCBI Sequence Viewer  
  CAB97208 (Get FASTA)   NCBI Sequence Viewer  
  CAD28549 (Get FASTA)   NCBI Sequence Viewer  
  CAG30278 (Get FASTA)   NCBI Sequence Viewer  
  CAI17880 (Get FASTA)   NCBI Sequence Viewer  
  CAQ09361 (Get FASTA)   NCBI Sequence Viewer  
  EAW59717 (Get FASTA)   NCBI Sequence Viewer  
  EAW59718 (Get FASTA)   NCBI Sequence Viewer  
  EAW59719 (Get FASTA)   NCBI Sequence Viewer  
  EAW59720 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000338457
  ENSP00000338457.5
  ENSP00000381213
  ENSP00000381213.2
  ENSP00000384185
  ENSP00000384185.3
  ENSP00000399705.1
  ENSP00000406764.1
  ENSP00000415081
  ENSP00000415081.3
  ENSP00000430291.1
  ENSP00000514220.1
  ENSP00000514221.1
  ENSP00000514222.1
  ENSP00000514223
  ENSP00000514223.1
  ENSP00000514224
  ENSP00000514224.1
  ENSP00000514225.1
  ENSP00000514226.1
  ENSP00000514227.1
  ENSP00000514228.1
  ENSP00000514229.1
  ENSP00000514230.1
  ENSP00000514231
  ENSP00000514231.1
  ENSP00000514232.1
  ENSP00000514233.1
  ENSP00000514234.1
  ENSP00000514235.1
  ENSP00000514236.1
  ENSP00000514237
  ENSP00000514237.1
  ENSP00000514238
  ENSP00000514238.1
GenBank Protein Q9NQG7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_071364   ⟸   NM_022081
- Peptide Label: isoform a
- UniProtKB: Q9UH37 (UniProtKB/Swiss-Prot),   Q9BY93 (UniProtKB/Swiss-Prot),   Q96LX6 (UniProtKB/Swiss-Prot),   Q5H8V6 (UniProtKB/Swiss-Prot),   B1AHQ4 (UniProtKB/Swiss-Prot),   Q9UH38 (UniProtKB/Swiss-Prot),   Q9NQG7 (UniProtKB/Swiss-Prot),   Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_690054   ⟸   NM_152841
- Peptide Label: isoform b
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528792   ⟸   XM_011530490
- Peptide Label: isoform X2
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528788   ⟸   XM_011530486
- Peptide Label: isoform X1
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528797   ⟸   XM_011530495
- Peptide Label: isoform X12
- UniProtKB: B3KTD7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528798   ⟸   XM_011530496
- Peptide Label: isoform X13
- UniProtKB: B3KTD7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884535   ⟸   XM_017029046
- Peptide Label: isoform X6
- UniProtKB: A0A8V8TN06 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884542   ⟸   XM_017029053
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: NP_001336834   ⟸   NM_001349905
- Peptide Label: isoform e
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336833   ⟸   NM_001349904
- Peptide Label: isoform e
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336831   ⟸   NM_001349902
- Peptide Label: isoform d
- UniProtKB: A0A8V8TMY3 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336825   ⟸   NM_001349896
- Peptide Label: isoform a
- UniProtKB: Q9UH37 (UniProtKB/Swiss-Prot),   Q9NQG7 (UniProtKB/Swiss-Prot),   Q9BY93 (UniProtKB/Swiss-Prot),   Q96LX6 (UniProtKB/Swiss-Prot),   Q5H8V6 (UniProtKB/Swiss-Prot),   B1AHQ4 (UniProtKB/Swiss-Prot),   Q9UH38 (UniProtKB/Swiss-Prot),   Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336830   ⟸   NM_001349901
- Peptide Label: isoform c
- UniProtKB: F1LLU8 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336828   ⟸   NM_001349899
- Peptide Label: isoform a
- UniProtKB: Q9UH37 (UniProtKB/Swiss-Prot),   Q9NQG7 (UniProtKB/Swiss-Prot),   Q9BY93 (UniProtKB/Swiss-Prot),   Q96LX6 (UniProtKB/Swiss-Prot),   Q5H8V6 (UniProtKB/Swiss-Prot),   B1AHQ4 (UniProtKB/Swiss-Prot),   Q9UH38 (UniProtKB/Swiss-Prot),   Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336832   ⟸   NM_001349903
- Peptide Label: isoform d
- UniProtKB: A0A8V8TMY3 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336829   ⟸   NM_001349900
- Peptide Label: isoform c
- UniProtKB: F1LLU8 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336827   ⟸   NM_001349898
- Peptide Label: isoform a
- UniProtKB: Q9UH37 (UniProtKB/Swiss-Prot),   Q9NQG7 (UniProtKB/Swiss-Prot),   Q9BY93 (UniProtKB/Swiss-Prot),   Q96LX6 (UniProtKB/Swiss-Prot),   Q5H8V6 (UniProtKB/Swiss-Prot),   B1AHQ4 (UniProtKB/Swiss-Prot),   Q9UH38 (UniProtKB/Swiss-Prot),   Q6P1K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000381213   ⟸   ENST00000398145
RefSeq Acc Id: ENSP00000406764   ⟸   ENST00000439453
RefSeq Acc Id: ENSP00000430291   ⟸   ENST00000464362
RefSeq Acc Id: ENSP00000338457   ⟸   ENST00000336873
RefSeq Acc Id: ENSP00000399705   ⟸   ENST00000429411
RefSeq Acc Id: ENSP00000384185   ⟸   ENST00000402105
RefSeq Acc Id: ENSP00000415081   ⟸   ENST00000422379
RefSeq Acc Id: XP_047297528   ⟸   XM_047441572
- Peptide Label: isoform X7
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297536   ⟸   XM_047441580
- Peptide Label: isoform X9
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297535   ⟸   XM_047441579
- Peptide Label: isoform X9
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297530   ⟸   XM_047441574
- Peptide Label: isoform X7
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297527   ⟸   XM_047441571
- Peptide Label: isoform X7
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297534   ⟸   XM_047441578
- Peptide Label: isoform X9
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297529   ⟸   XM_047441573
- Peptide Label: isoform X7
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297532   ⟸   XM_047441576
- Peptide Label: isoform X8
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297539   ⟸   XM_047441583
- Peptide Label: isoform X10
- UniProtKB: A0A8V8TMY3 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297520   ⟸   XM_047441564
- Peptide Label: isoform X4
- UniProtKB: Q9UH37 (UniProtKB/Swiss-Prot),   Q9NQG7 (UniProtKB/Swiss-Prot),   Q9BY93 (UniProtKB/Swiss-Prot),   Q96LX6 (UniProtKB/Swiss-Prot),   Q5H8V6 (UniProtKB/Swiss-Prot),   B1AHQ4 (UniProtKB/Swiss-Prot),   Q9UH38 (UniProtKB/Swiss-Prot),   Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297519   ⟸   XM_047441563
- Peptide Label: isoform X3
- UniProtKB: F1LLU8 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297538   ⟸   XM_047441582
- Peptide Label: isoform X10
- UniProtKB: A0A8V8TMY3 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297533   ⟸   XM_047441577
- Peptide Label: isoform X8
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297517   ⟸   XM_047441561
- Peptide Label: isoform X3
- UniProtKB: F1LLU8 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297531   ⟸   XM_047441575
- Peptide Label: isoform X8
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297537   ⟸   XM_047441581
- Peptide Label: isoform X10
- UniProtKB: A0A8V8TMY3 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297518   ⟸   XM_047441562
- Peptide Label: isoform X3
- UniProtKB: F1LLU8 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297540   ⟸   XM_047441584
- Peptide Label: isoform X14
- UniProtKB: A0A8V8TPB3 (UniProtKB/TrEMBL),   B3KTD7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297524   ⟸   XM_047441568
- Peptide Label: isoform X6
- UniProtKB: A0A8V8TN06 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297522   ⟸   XM_047441566
- Peptide Label: isoform X5
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297523   ⟸   XM_047441567
- Peptide Label: isoform X5
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297521   ⟸   XM_047441565
- Peptide Label: isoform X5
- UniProtKB: Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297525   ⟸   XM_047441569
- Peptide Label: isoform X6
- UniProtKB: A0A8V8TN06 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000514236   ⟸   ENST00000699249
RefSeq Acc Id: ENSP00000514231   ⟸   ENST00000699242
RefSeq Acc Id: ENSP00000514232   ⟸   ENST00000699243
RefSeq Acc Id: ENSP00000514225   ⟸   ENST00000699236
RefSeq Acc Id: ENSP00000514227   ⟸   ENST00000699238
RefSeq Acc Id: ENSP00000514235   ⟸   ENST00000699247
RefSeq Acc Id: ENSP00000514230   ⟸   ENST00000699241
RefSeq Acc Id: ENSP00000514220   ⟸   ENST00000699227
RefSeq Acc Id: ENSP00000514237   ⟸   ENST00000699250
RefSeq Acc Id: ENSP00000514234   ⟸   ENST00000699246
RefSeq Acc Id: ENSP00000514226   ⟸   ENST00000699237
RefSeq Acc Id: ENSP00000514229   ⟸   ENST00000699240
RefSeq Acc Id: ENSP00000514238   ⟸   ENST00000699251
RefSeq Acc Id: ENSP00000514233   ⟸   ENST00000699244
RefSeq Acc Id: ENSP00000514222   ⟸   ENST00000699234
RefSeq Acc Id: ENSP00000514224   ⟸   ENST00000699235
RefSeq Acc Id: NP_001397761   ⟸   NM_001410832
- Peptide Label: isoform f
- UniProtKB: A0A8V8TN06 (UniProtKB/TrEMBL),   Q6P1K3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182078   ⟸   XM_054326103
- Peptide Label: isoform X9
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182077   ⟸   XM_054326102
- Peptide Label: isoform X9
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182076   ⟸   XM_054326101
- Peptide Label: isoform X9
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182072   ⟸   XM_054326097
- Peptide Label: isoform X7
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182074   ⟸   XM_054326099
- Peptide Label: isoform X8
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182056   ⟸   XM_054326081
- Peptide Label: isoform X1
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182081   ⟸   XM_054326106
- Peptide Label: isoform X10
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182065   ⟸   XM_054326090
- Peptide Label: isoform X4
- UniProtKB: A8K2E6 (UniProtKB/TrEMBL),   Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182064   ⟸   XM_054326089
- Peptide Label: isoform X3
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182059   ⟸   XM_054326084
- Peptide Label: isoform X1
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182080   ⟸   XM_054326105
- Peptide Label: isoform X10
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182075   ⟸   XM_054326100
- Peptide Label: isoform X8
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182062   ⟸   XM_054326087
- Peptide Label: isoform X3
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182057   ⟸   XM_054326082
- Peptide Label: isoform X1
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182073   ⟸   XM_054326098
- Peptide Label: isoform X8
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182060   ⟸   XM_054326085
- Peptide Label: isoform X2
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182055   ⟸   XM_054326080
- Peptide Label: isoform X1
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182079   ⟸   XM_054326104
- Peptide Label: isoform X10
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182063   ⟸   XM_054326088
- Peptide Label: isoform X3
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182061   ⟸   XM_054326086
- Peptide Label: isoform X2
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182058   ⟸   XM_054326083
- Peptide Label: isoform X1
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182070   ⟸   XM_054326095
- Peptide Label: isoform X6
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182067   ⟸   XM_054326092
- Peptide Label: isoform X5
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182068   ⟸   XM_054326093
- Peptide Label: isoform X5
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182069   ⟸   XM_054326094
- Peptide Label: isoform X6
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182066   ⟸   XM_054326091
- Peptide Label: isoform X5
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182071   ⟸   XM_054326096
- Peptide Label: isoform X6
- UniProtKB: Q6ICH6 (UniProtKB/TrEMBL)
Protein Domains
CCZ1/INTU/HPS4 third Longin   CCZ1/INTU/HSP4 first Longin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQG7-F1-model_v2 AlphaFold Q9NQG7 1-708 view protein structure

Promoters
RGD ID:6800036
Promoter ID:HG_KWN:42126
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000398141,   ENST00000402105,   OTTHUMT00000257731,   OTTHUMT00000320784,   UC003ACJ.1,   UC003ACO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362225,205,351 - 25,205,887 (-)MPROMDB
RGD ID:6814418
Promoter ID:HG_MGC:462
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:BC065030
Position:
Human AssemblyChrPosition (strand)Source
Build 362225,207,641 - 25,208,141 (-)MPROMDB
RGD ID:6800435
Promoter ID:HG_KWN:42127
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000312736,   ENST00000336873,   NM_022081,   OTTHUMT00000320423,   OTTHUMT00000320785,   OTTHUMT00000320786,   OTTHUMT00000320787,   UC003ACK.1,   UC003ACN.1,   UC003ACP.2,   UC010GVD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362225,208,651 - 25,210,322 (+)MPROMDB
RGD ID:13603560
Promoter ID:EPDNEW_H27964
Type:initiation region
Name:HPS4_2
Description:HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27965  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,479,605 - 26,479,665EPDNEW
RGD ID:13603562
Promoter ID:EPDNEW_H27965
Type:initiation region
Name:HPS4_1
Description:HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27964  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,483,783 - 26,483,843EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15844 AgrOrtholog
COSMIC HPS4 COSMIC
Ensembl Genes ENSG00000100099 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000336873 ENTREZGENE
  ENST00000336873.9 UniProtKB/Swiss-Prot
  ENST00000398145 ENTREZGENE
  ENST00000398145.7 UniProtKB/Swiss-Prot
  ENST00000402105 ENTREZGENE
  ENST00000402105.7 UniProtKB/Swiss-Prot
  ENST00000422379 ENTREZGENE
  ENST00000422379.3 UniProtKB/TrEMBL
  ENST00000429411.5 UniProtKB/TrEMBL
  ENST00000439453.5 UniProtKB/TrEMBL
  ENST00000464362.5 UniProtKB/TrEMBL
  ENST00000473782 ENTREZGENE
  ENST00000473782.2 UniProtKB/Swiss-Prot
  ENST00000483631.2 UniProtKB/TrEMBL
  ENST00000491142.2 UniProtKB/Swiss-Prot
  ENST00000699227.1 UniProtKB/TrEMBL
  ENST00000699228 ENTREZGENE
  ENST00000699234.1 UniProtKB/TrEMBL
  ENST00000699235 ENTREZGENE
  ENST00000699235.1 UniProtKB/TrEMBL
  ENST00000699236.1 UniProtKB/TrEMBL
  ENST00000699237 ENTREZGENE
  ENST00000699237.1 UniProtKB/TrEMBL
  ENST00000699238 ENTREZGENE
  ENST00000699238.1 UniProtKB/TrEMBL
  ENST00000699240 ENTREZGENE
  ENST00000699240.1 UniProtKB/TrEMBL
  ENST00000699241.1 UniProtKB/TrEMBL
  ENST00000699242 ENTREZGENE
  ENST00000699242.1 UniProtKB/TrEMBL
  ENST00000699243 ENTREZGENE
  ENST00000699243.1 UniProtKB/TrEMBL
  ENST00000699244.1 UniProtKB/TrEMBL
  ENST00000699246 ENTREZGENE
  ENST00000699246.1 UniProtKB/TrEMBL
  ENST00000699247.1 UniProtKB/TrEMBL
  ENST00000699249.1 UniProtKB/TrEMBL
  ENST00000699250 ENTREZGENE
  ENST00000699250.1 UniProtKB/TrEMBL
  ENST00000699251 ENTREZGENE
  ENST00000699251.1 UniProtKB/TrEMBL
GTEx ENSG00000100099 GTEx
HGNC ID HGNC:15844 ENTREZGENE
Human Proteome Map HPS4 Human Proteome Map
InterPro CCZ1/INTU/HSP4_longin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CCZ1/INTU/HSP4_longin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HPS4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:89781 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 89781 ENTREZGENE
OMIM 606682 OMIM
PANTHER HERMANSKY-PUDLAK SYNDROME 4 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14407 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Intu_longin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intu_longin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29434 PharmGKB
UniProt A0A8V8TMW9_HUMAN UniProtKB/TrEMBL
  A0A8V8TMY3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TMZ0_HUMAN UniProtKB/TrEMBL
  A0A8V8TN01_HUMAN UniProtKB/TrEMBL
  A0A8V8TN06 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TNE4_HUMAN UniProtKB/TrEMBL
  A0A8V8TNF3_HUMAN UniProtKB/TrEMBL
  A0A8V8TPB3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TPB5_HUMAN UniProtKB/TrEMBL
  A0A8V8TPP5_HUMAN UniProtKB/TrEMBL
  A0A8V8TPP9_HUMAN UniProtKB/TrEMBL
  A8K2E6 ENTREZGENE, UniProtKB/TrEMBL
  B1AHQ4 ENTREZGENE
  B3KTD7 ENTREZGENE, UniProtKB/TrEMBL
  E5RG08_HUMAN UniProtKB/TrEMBL
  F1LLU8 ENTREZGENE, UniProtKB/TrEMBL
  F8VYA9_HUMAN UniProtKB/TrEMBL
  F8WC53_HUMAN UniProtKB/TrEMBL
  HPS4_HUMAN UniProtKB/Swiss-Prot
  Q5H8V6 ENTREZGENE
  Q6ICH6 ENTREZGENE, UniProtKB/TrEMBL
  Q6P1K3 ENTREZGENE, UniProtKB/TrEMBL
  Q96LX6 ENTREZGENE
  Q9BY93 ENTREZGENE
  Q9NQG7 ENTREZGENE
  Q9UH37 ENTREZGENE
  Q9UH38 ENTREZGENE
UniProt Secondary B1AHQ4 UniProtKB/Swiss-Prot
  Q5H8V6 UniProtKB/Swiss-Prot
  Q96LX6 UniProtKB/Swiss-Prot
  Q9BY93 UniProtKB/Swiss-Prot
  Q9UH37 UniProtKB/Swiss-Prot
  Q9UH38 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 HPS4  HPS4 biogenesis of lysosomal organelles complex 3 subunit 2    HPS4, biogenesis of lysosomal organelles complex 3 subunit 2  Symbol and/or name change 5135510 APPROVED
2016-02-29 HPS4  HPS4, biogenesis of lysosomal organelles complex 3 subunit 2    Hermansky-Pudlak syndrome 4  Symbol and/or name change 5135510 APPROVED