PKDREJ (polycystin family receptor for egg jelly) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PKDREJ (polycystin family receptor for egg jelly) Homo sapiens
Analyze
Symbol: PKDREJ
Name: polycystin family receptor for egg jelly
RGD ID: 1315287
HGNC Page HGNC:9015
Description: Predicted to enable calcium channel activity. Predicted to be involved in detection of mechanical stimulus. Predicted to act upstream of or within regulation of acrosome reaction. Predicted to be located in sperm plasma membrane. Predicted to be active in membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PKD and REJ homolog; polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like; polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like; polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin); polycystic kidney disease and receptor for egg jelly-related protein; polycystin (PKD) family receptor for egg jelly
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382246,255,663 - 46,263,343 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2246,255,663 - 46,263,343 (-)EnsemblGRCh38hg38GRCh38
GRCh372246,651,560 - 46,659,240 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362245,030,224 - 45,037,883 (-)NCBINCBI36Build 36hg18NCBI36
Build 342244,972,078 - 44,979,738NCBI
Celera2230,558,945 - 30,566,604 (-)NCBICelera
Cytogenetic Map22q13.31NCBI
HuRef2229,595,594 - 29,603,195 (-)NCBIHuRef
CHM1_12246,610,296 - 46,617,952 (-)NCBICHM1_1
T2T-CHM13v2.02246,740,363 - 46,748,043 (-)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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9949214   PMID:10591208   PMID:10602361   PMID:11698076   PMID:12477932   PMID:17564962   PMID:21873635   PMID:22889411   PMID:24189400   PMID:30021884   PMID:34349018   PMID:35256949  
PMID:37788672  


Genomics

Comparative Map Data
PKDREJ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382246,255,663 - 46,263,343 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2246,255,663 - 46,263,343 (-)EnsemblGRCh38hg38GRCh38
GRCh372246,651,560 - 46,659,240 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362245,030,224 - 45,037,883 (-)NCBINCBI36Build 36hg18NCBI36
Build 342244,972,078 - 44,979,738NCBI
Celera2230,558,945 - 30,566,604 (-)NCBICelera
Cytogenetic Map22q13.31NCBI
HuRef2229,595,594 - 29,603,195 (-)NCBIHuRef
CHM1_12246,610,296 - 46,617,952 (-)NCBICHM1_1
T2T-CHM13v2.02246,740,363 - 46,748,043 (-)NCBIT2T-CHM13v2.0
Pkdrej
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391585,698,877 - 85,705,934 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1585,698,871 - 85,705,935 (-)EnsemblGRCm39 Ensembl
GRCm381585,814,676 - 85,821,733 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1585,814,670 - 85,821,734 (-)EnsemblGRCm38mm10GRCm38
MGSCv371585,645,106 - 85,652,163 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361585,643,119 - 85,649,499 (-)NCBIMGSCv36mm8
Celera1587,946,722 - 87,953,940 (-)NCBICelera
Cytogenetic Map15E2NCBI
cM Map1540.42NCBI
Pkdrej
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87118,788,939 - 118,795,313 (-)NCBIGRCr8
mRatBN7.27116,909,094 - 116,915,468 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7116,909,094 - 116,915,468 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7118,659,894 - 118,666,268 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07120,885,522 - 120,891,896 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07120,855,083 - 120,861,457 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07126,695,498 - 126,701,872 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7126,695,498 - 126,701,872 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07126,406,494 - 126,412,868 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47123,820,836 - 123,827,210 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17123,855,074 - 123,861,440 (-)NCBI
Celera7113,201,150 - 113,207,508 (-)NCBICelera
Cytogenetic Map7q34NCBI
Pkdrej
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541330,378,603 - 30,384,681 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541330,377,627 - 30,384,749 (-)NCBIChiLan1.0ChiLan1.0
PKDREJ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22356,084,012 - 56,094,545 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12258,782,261 - 58,792,495 (-)NCBINHGRI_mPanPan1
PanPan1.12245,320,969 - 45,328,048 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2245,321,867 - 45,333,429 (-)Ensemblpanpan1.1panPan2
PKDREJ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11019,914,217 - 19,921,766 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1019,914,721 - 19,920,822 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1019,834,380 - 19,844,271 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01020,645,684 - 20,655,572 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11020,365,964 - 20,375,852 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01020,678,759 - 20,688,643 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01020,860,574 - 20,870,461 (+)NCBIUU_Cfam_GSD_1.0
Pkdrej
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049453,641,786 - 3,652,767 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366293,645,579 - 3,651,827 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366293,641,786 - 3,651,827 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PKDREJ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.153,270,753 - 3,283,058 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25508,152 - 514,973 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PKDREJ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11928,728,474 - 28,736,676 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1928,729,375 - 28,736,145 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604596,781,707 - 96,802,150 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pkdrej
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247523,630,908 - 3,632,330 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PKDREJ
157 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3 copy number gain See cases [RCV000050316] Chr22:46183346..46791748 [GRCh38]
Chr22:46579243..47187645 [GRCh37]
Chr22:44957907..45566309 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3 copy number gain See cases [RCV000052891] Chr22:45954698..47245325 [GRCh38]
Chr22:46350578..47641075 [GRCh37]
Chr22:44729242..46019739 [NCBI36]
Chr22:22q13.31		 uncertain significance
NM_006071.1(PKDREJ):c.1300G>A (p.Val434Met) single nucleotide variant Malignant melanoma [RCV000073001] Chr22:46262023 [GRCh38]
Chr22:46657920 [GRCh37]
Chr22:45036584 [NCBI36]
Chr22:22q13.31		 not provided
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
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
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 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33		 benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1 copy number loss See cases [RCV000138217] Chr22:45445795..47832195 [GRCh38]
Chr22:45841676..48227944 [GRCh37]
Chr22:44220340..46606608 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3 copy number gain See cases [RCV000143486] Chr22:44832749..46353315 [GRCh38]
Chr22:45228629..46749212 [GRCh37]
Chr22:43607293..45127876 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3 copy number gain See cases [RCV000148265] Chr22:46183346..46791748 [GRCh38]
Chr22:46579243..47187645 [GRCh37]
Chr22:44957907..45566309 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1 copy number loss See cases [RCV000239941] Chr22:46316673..50357320 [GRCh37]
Chr22:22q13.31-13.33		 likely pathogenic
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
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
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 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33		 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
NM_006071.2(PKDREJ):c.4066G>T (p.Asp1356Tyr) single nucleotide variant not specified [RCV004316292] Chr22:46259257 [GRCh38]
Chr22:46655154 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1951G>A (p.Val651Ile) single nucleotide variant not specified [RCV004319349] Chr22:46261372 [GRCh38]
Chr22:46657269 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.791T>C (p.Val264Ala) single nucleotide variant not specified [RCV004319753] Chr22:46262532 [GRCh38]
Chr22:46658429 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3890G>A (p.Arg1297His) single nucleotide variant not specified [RCV004307415] Chr22:46259433 [GRCh38]
Chr22:46655330 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31(chr22:46189128-46998144)x3 copy number gain See cases [RCV000512253] Chr22:46189128..46998144 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1 copy number loss See cases [RCV000512399] Chr22:46406694..48524541 [GRCh37]
Chr22:22q13.31-13.32		 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
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33		 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 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31(chr22:46655919-46665006)x3 copy number gain not provided [RCV000742046] Chr22:46655919..46665006 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31(chr22:46655966-46663094)x3 copy number gain not provided [RCV000742047] Chr22:46655966..46663094 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31(chr22:46655966-46665006)x3 copy number gain not provided [RCV000742048] Chr22:46655966..46665006 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31(chr22:46655966-46667037)x3 copy number gain not provided [RCV000742049] Chr22:46655966..46667037 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31(chr22:46656246-46665006)x3 copy number gain not provided [RCV000742050] Chr22:46656246..46665006 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31(chr22:46656275-46663094)x3 copy number gain not provided [RCV000742051] Chr22:46656275..46663094 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31(chr22:46656275-46667037)x3 copy number gain not provided [RCV000742052] Chr22:46656275..46667037 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31(chr22:46656278-46663094)x3 copy number gain not provided [RCV000742053] Chr22:46656278..46663094 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31(chr22:46656494-46663094)x3 copy number gain not provided [RCV000742054] Chr22:46656494..46663094 [GRCh37]
Chr22:22q13.31		 benign
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
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
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_006071.2(PKDREJ):c.436C>T (p.Arg146Trp) single nucleotide variant not specified [RCV004295933] Chr22:46262887 [GRCh38]
Chr22:46658784 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1013C>A (p.Ala338Glu) single nucleotide variant not specified [RCV004308119] Chr22:46262310 [GRCh38]
Chr22:46658207 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3830G>T (p.Gly1277Val) single nucleotide variant not specified [RCV004321442] Chr22:46259493 [GRCh38]
Chr22:46655390 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31(chr22:46421842-46964908)x1 copy number loss See cases [RCV001194545] Chr22:46421842..46964908 [GRCh37]
Chr22:22q13.31		 likely pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33		 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
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660) copy number loss not specified [RCV002052758] Chr22:43451316..46662660 [GRCh37]
Chr22:22q13.2-13.31		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_006071.2(PKDREJ):c.2936A>C (p.Lys979Thr) single nucleotide variant not specified [RCV004160867] Chr22:46260387 [GRCh38]
Chr22:46656284 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6113T>C (p.Ile2038Thr) single nucleotide variant not specified [RCV004162850] Chr22:46257210 [GRCh38]
Chr22:46653107 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.133G>C (p.Ala45Pro) single nucleotide variant not specified [RCV004235299] Chr22:46263190 [GRCh38]
Chr22:46659087 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6095C>T (p.Ser2032Leu) single nucleotide variant not specified [RCV004198386] Chr22:46257228 [GRCh38]
Chr22:46653125 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.954G>A (p.Met318Ile) single nucleotide variant not specified [RCV004226465] Chr22:46262369 [GRCh38]
Chr22:46658266 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3611C>A (p.Ala1204Asp) single nucleotide variant not specified [RCV004085991] Chr22:46259712 [GRCh38]
Chr22:46655609 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6014T>C (p.Leu2005Ser) single nucleotide variant not specified [RCV004219921] Chr22:46257309 [GRCh38]
Chr22:46653206 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6283G>A (p.Val2095Ile) single nucleotide variant not specified [RCV004128580] Chr22:46257040 [GRCh38]
Chr22:46652937 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.601C>A (p.His201Asn) single nucleotide variant not specified [RCV004222962] Chr22:46262722 [GRCh38]
Chr22:46658619 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5129T>A (p.Phe1710Tyr) single nucleotide variant not specified [RCV004087913] Chr22:46258194 [GRCh38]
Chr22:46654091 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.530T>A (p.Phe177Tyr) single nucleotide variant not specified [RCV004086226] Chr22:46262793 [GRCh38]
Chr22:46658690 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3776G>A (p.Ser1259Asn) single nucleotide variant not specified [RCV004141460] Chr22:46259547 [GRCh38]
Chr22:46655444 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.647T>A (p.Val216Asp) single nucleotide variant not specified [RCV004192320] Chr22:46262676 [GRCh38]
Chr22:46658573 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6428A>G (p.Asn2143Ser) single nucleotide variant not specified [RCV004242174] Chr22:46256895 [GRCh38]
Chr22:46652792 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.3713C>T (p.Thr1238Ile) single nucleotide variant not specified [RCV004228674] Chr22:46259610 [GRCh38]
Chr22:46655507 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5954T>A (p.Ile1985Asn) single nucleotide variant not specified [RCV004140012] Chr22:46257369 [GRCh38]
Chr22:46653266 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.923C>T (p.Thr308Met) single nucleotide variant not specified [RCV004116216] Chr22:46262400 [GRCh38]
Chr22:46658297 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4516C>T (p.Pro1506Ser) single nucleotide variant not specified [RCV004109746] Chr22:46258807 [GRCh38]
Chr22:46654704 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2333C>T (p.Thr778Ile) single nucleotide variant not specified [RCV004195878] Chr22:46260990 [GRCh38]
Chr22:46656887 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.236T>C (p.Phe79Ser) single nucleotide variant not specified [RCV004234934] Chr22:46263087 [GRCh38]
Chr22:46658984 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6199A>G (p.Arg2067Gly) single nucleotide variant not specified [RCV004246586] Chr22:46257124 [GRCh38]
Chr22:46653021 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2945C>G (p.Thr982Arg) single nucleotide variant not specified [RCV004203037] Chr22:46260378 [GRCh38]
Chr22:46656275 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5624C>T (p.Thr1875Ile) single nucleotide variant not specified [RCV004106402] Chr22:46257699 [GRCh38]
Chr22:46653596 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2146G>A (p.Val716Ile) single nucleotide variant not specified [RCV004185394] Chr22:46261177 [GRCh38]
Chr22:46657074 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.382T>G (p.Trp128Gly) single nucleotide variant not specified [RCV004119640] Chr22:46262941 [GRCh38]
Chr22:46658838 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5822G>A (p.Gly1941Glu) single nucleotide variant not specified [RCV004171272] Chr22:46257501 [GRCh38]
Chr22:46653398 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5727G>C (p.Glu1909Asp) single nucleotide variant not specified [RCV004131319] Chr22:46257596 [GRCh38]
Chr22:46653493 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4033G>A (p.Val1345Ile) single nucleotide variant not specified [RCV004232684] Chr22:46259290 [GRCh38]
Chr22:46655187 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3901A>G (p.Asn1301Asp) single nucleotide variant not specified [RCV004163770] Chr22:46259422 [GRCh38]
Chr22:46655319 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5881G>T (p.Ala1961Ser) single nucleotide variant not specified [RCV004155876] Chr22:46257442 [GRCh38]
Chr22:46653339 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6312G>C (p.Met2104Ile) single nucleotide variant not specified [RCV004101866] Chr22:46257011 [GRCh38]
Chr22:46652908 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2182G>A (p.Asp728Asn) single nucleotide variant not specified [RCV004128296] Chr22:46261141 [GRCh38]
Chr22:46657038 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.2449A>G (p.Ile817Val) single nucleotide variant not specified [RCV004162807] Chr22:46260874 [GRCh38]
Chr22:46656771 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6304G>A (p.Val2102Ile) single nucleotide variant not specified [RCV004246933] Chr22:46257019 [GRCh38]
Chr22:46652916 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5426C>A (p.Ala1809Asp) single nucleotide variant not specified [RCV004149824] Chr22:46257897 [GRCh38]
Chr22:46653794 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.493C>T (p.Arg165Cys) single nucleotide variant not specified [RCV004122386] Chr22:46262830 [GRCh38]
Chr22:46658727 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.749C>G (p.Pro250Arg) single nucleotide variant not specified [RCV004198065] Chr22:46262574 [GRCh38]
Chr22:46658471 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5588C>T (p.Thr1863Met) single nucleotide variant not specified [RCV004224353] Chr22:46257735 [GRCh38]
Chr22:46653632 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2770A>C (p.Thr924Pro) single nucleotide variant not specified [RCV004107965] Chr22:46260553 [GRCh38]
Chr22:46656450 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4907T>C (p.Phe1636Ser) single nucleotide variant not specified [RCV004115129] Chr22:46258416 [GRCh38]
Chr22:46654313 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4233T>G (p.Asn1411Lys) single nucleotide variant not specified [RCV004162734] Chr22:46259090 [GRCh38]
Chr22:46654987 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1361C>A (p.Pro454Gln) single nucleotide variant not specified [RCV004202694] Chr22:46261962 [GRCh38]
Chr22:46657859 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.527G>A (p.Gly176Asp) single nucleotide variant not specified [RCV004110321] Chr22:46262796 [GRCh38]
Chr22:46658693 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2117C>T (p.Ala706Val) single nucleotide variant not specified [RCV004109587] Chr22:46261206 [GRCh38]
Chr22:46657103 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5195G>A (p.Arg1732His) single nucleotide variant not specified [RCV004226288] Chr22:46258128 [GRCh38]
Chr22:46654025 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.575T>A (p.Met192Lys) single nucleotide variant not specified [RCV004149622] Chr22:46262748 [GRCh38]
Chr22:46658645 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2584T>A (p.Tyr862Asn) single nucleotide variant not specified [RCV004148311] Chr22:46260739 [GRCh38]
Chr22:46656636 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4572G>T (p.Arg1524Ser) single nucleotide variant not specified [RCV004228460] Chr22:46258751 [GRCh38]
Chr22:46654648 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.600C>A (p.Ser200Arg) single nucleotide variant not specified [RCV004167935] Chr22:46262723 [GRCh38]
Chr22:46658620 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.5048C>T (p.Thr1683Met) single nucleotide variant not specified [RCV004136523] Chr22:46258275 [GRCh38]
Chr22:46654172 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.799G>T (p.Val267Leu) single nucleotide variant not specified [RCV004175160] Chr22:46262524 [GRCh38]
Chr22:46658421 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3050G>A (p.Ser1017Asn) single nucleotide variant not specified [RCV004175192] Chr22:46260273 [GRCh38]
Chr22:46656170 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2662A>G (p.Thr888Ala) single nucleotide variant not specified [RCV004155129] Chr22:46260661 [GRCh38]
Chr22:46656558 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3634C>G (p.Gln1212Glu) single nucleotide variant not specified [RCV004221297] Chr22:46259689 [GRCh38]
Chr22:46655586 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.4657G>A (p.Glu1553Lys) single nucleotide variant not specified [RCV004193442] Chr22:46258666 [GRCh38]
Chr22:46654563 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5671C>T (p.Arg1891Trp) single nucleotide variant not specified [RCV004078907] Chr22:46257652 [GRCh38]
Chr22:46653549 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.436C>G (p.Arg146Gly) single nucleotide variant not specified [RCV004132608] Chr22:46262887 [GRCh38]
Chr22:46658784 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.139G>C (p.Gly47Arg) single nucleotide variant not specified [RCV004198064] Chr22:46263184 [GRCh38]
Chr22:46659081 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1637G>T (p.Gly546Val) single nucleotide variant not specified [RCV004180503] Chr22:46261686 [GRCh38]
Chr22:46657583 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4337T>C (p.Phe1446Ser) single nucleotide variant not specified [RCV004096114] Chr22:46258986 [GRCh38]
Chr22:46654883 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5944G>A (p.Glu1982Lys) single nucleotide variant not specified [RCV004148770] Chr22:46257379 [GRCh38]
Chr22:46653276 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4099C>T (p.Arg1367Trp) single nucleotide variant not specified [RCV004252147] Chr22:46259224 [GRCh38]
Chr22:46655121 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2174C>T (p.Pro725Leu) single nucleotide variant not specified [RCV004248285] Chr22:46261149 [GRCh38]
Chr22:46657046 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4472A>C (p.Lys1491Thr) single nucleotide variant not specified [RCV004252952] Chr22:46258851 [GRCh38]
Chr22:46654748 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4616A>T (p.Asn1539Ile) single nucleotide variant not specified [RCV004259223] Chr22:46258707 [GRCh38]
Chr22:46654604 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.97G>A (p.Ala33Thr) single nucleotide variant not specified [RCV004264574] Chr22:46263226 [GRCh38]
Chr22:46659123 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.905T>C (p.Val302Ala) single nucleotide variant not specified [RCV004274188] Chr22:46262418 [GRCh38]
Chr22:46658315 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2896C>T (p.Leu966Phe) single nucleotide variant not specified [RCV004263852] Chr22:46260427 [GRCh38]
Chr22:46656324 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6677G>C (p.Gly2226Ala) single nucleotide variant not specified [RCV004269234] Chr22:46256646 [GRCh38]
Chr22:46652543 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4001C>G (p.Ser1334Cys) single nucleotide variant not specified [RCV004265575] Chr22:46259322 [GRCh38]
Chr22:46655219 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3467C>T (p.Thr1156Ile) single nucleotide variant not specified [RCV004272801] Chr22:46259856 [GRCh38]
Chr22:46655753 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3113C>T (p.Ala1038Val) single nucleotide variant not specified [RCV004281057] Chr22:46260210 [GRCh38]
Chr22:46656107 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.595T>C (p.Ser199Pro) single nucleotide variant not specified [RCV004254438] Chr22:46262728 [GRCh38]
Chr22:46658625 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3617A>G (p.Tyr1206Cys) single nucleotide variant not specified [RCV004264063] Chr22:46259706 [GRCh38]
Chr22:46655603 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3466A>G (p.Thr1156Ala) single nucleotide variant not specified [RCV004262811] Chr22:46259857 [GRCh38]
Chr22:46655754 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4913C>T (p.Thr1638Met) single nucleotide variant not specified [RCV004509012] Chr22:46258410 [GRCh38]
Chr22:46654307 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5435T>C (p.Phe1812Ser) single nucleotide variant not specified [RCV004509016] Chr22:46257888 [GRCh38]
Chr22:46653785 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4705C>T (p.Arg1569Trp) single nucleotide variant not specified [RCV004509010] Chr22:46258618 [GRCh38]
Chr22:46654515 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5122C>G (p.Leu1708Val) single nucleotide variant not specified [RCV004301980] Chr22:46258201 [GRCh38]
Chr22:46654098 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2173C>T (p.Pro725Ser) single nucleotide variant not specified [RCV004508995] Chr22:46261150 [GRCh38]
Chr22:46657047 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3161G>A (p.Arg1054His) single nucleotide variant not specified [RCV004509001] Chr22:46260162 [GRCh38]
Chr22:46656059 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2396G>A (p.Arg799Gln) single nucleotide variant not specified [RCV004338845] Chr22:46260927 [GRCh38]
Chr22:46656824 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2993T>C (p.Leu998Pro) single nucleotide variant not specified [RCV004347659] Chr22:46260330 [GRCh38]
Chr22:46656227 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.397C>T (p.Pro133Ser) single nucleotide variant not specified [RCV004342164] Chr22:46262926 [GRCh38]
Chr22:46658823 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4378A>C (p.Lys1460Gln) single nucleotide variant not specified [RCV004344969] Chr22:46258945 [GRCh38]
Chr22:46654842 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3445C>T (p.Leu1149Phe) single nucleotide variant not specified [RCV004341597] Chr22:46259878 [GRCh38]
Chr22:46655775 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1582C>T (p.Arg528Trp) single nucleotide variant not specified [RCV004339506] Chr22:46261741 [GRCh38]
Chr22:46657638 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.979G>A (p.Val327Ile) single nucleotide variant not specified [RCV004355567] Chr22:46262344 [GRCh38]
Chr22:46658241 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.16G>A (p.Ala6Thr) single nucleotide variant not specified [RCV004355486] Chr22:46263307 [GRCh38]
Chr22:46659204 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5243C>G (p.Ser1748Cys) single nucleotide variant not specified [RCV004338934] Chr22:46258080 [GRCh38]
Chr22:46653977 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 copy number loss not provided [RCV003457366] Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_006071.2(PKDREJ):c.2051T>G (p.Leu684Arg) single nucleotide variant not specified [RCV004356536] Chr22:46261272 [GRCh38]
Chr22:46657169 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1768A>C (p.Lys590Gln) single nucleotide variant not specified [RCV004339174] Chr22:46261555 [GRCh38]
Chr22:46657452 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5795C>T (p.Ser1932Leu) single nucleotide variant not specified [RCV004334850] Chr22:46257528 [GRCh38]
Chr22:46653425 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 copy number gain not provided [RCV003485247] Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_006071.2(PKDREJ):c.3117C>G (p.Ser1039Arg) single nucleotide variant not specified [RCV004509000] Chr22:46260206 [GRCh38]
Chr22:46656103 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3254G>A (p.Arg1085His) single nucleotide variant not specified [RCV004509002] Chr22:46260069 [GRCh38]
Chr22:46655966 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.5372T>G (p.Leu1791Arg) single nucleotide variant not specified [RCV004509013] Chr22:46257951 [GRCh38]
Chr22:46653848 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5901G>C (p.Leu1967Phe) single nucleotide variant not specified [RCV004509018] Chr22:46257422 [GRCh38]
Chr22:46653319 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6649C>G (p.Pro2217Ala) single nucleotide variant not specified [RCV004509022] Chr22:46256674 [GRCh38]
Chr22:46652571 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 copy number loss not provided [RCV003483399] Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_006071.2(PKDREJ):c.5688G>A (p.Leu1896=) single nucleotide variant not provided [RCV003437651] Chr22:46257635 [GRCh38]
Chr22:46653532 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.6258C>T (p.Leu2086=) single nucleotide variant not provided [RCV003437650] Chr22:46257065 [GRCh38]
Chr22:46652962 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.3786C>T (p.Asp1262=) single nucleotide variant not provided [RCV003433295] Chr22:46259537 [GRCh38]
Chr22:46655434 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.3846C>T (p.Phe1282=) single nucleotide variant not provided [RCV003437652] Chr22:46259477 [GRCh38]
Chr22:46655374 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.4522C>T (p.Leu1508Phe) single nucleotide variant not specified [RCV004509009] Chr22:46258801 [GRCh38]
Chr22:46654698 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5897A>G (p.Tyr1966Cys) single nucleotide variant not specified [RCV004509017] Chr22:46257426 [GRCh38]
Chr22:46653323 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6328G>T (p.Val2110Leu) single nucleotide variant not specified [RCV004509019] Chr22:46256995 [GRCh38]
Chr22:46652892 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6395G>A (p.Cys2132Tyr) single nucleotide variant not specified [RCV004509020] Chr22:46256928 [GRCh38]
Chr22:46652825 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1507A>G (p.Met503Val) single nucleotide variant not specified [RCV004508994] Chr22:46261816 [GRCh38]
Chr22:46657713 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.2266G>C (p.Val756Leu) single nucleotide variant not specified [RCV004508997] Chr22:46261057 [GRCh38]
Chr22:46656954 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2899A>T (p.Thr967Ser) single nucleotide variant not specified [RCV004508999] Chr22:46260424 [GRCh38]
Chr22:46656321 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3914G>A (p.Arg1305Gln) single nucleotide variant not specified [RCV004509007] Chr22:46259409 [GRCh38]
Chr22:46655306 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6683C>G (p.Pro2228Arg) single nucleotide variant not specified [RCV004509023] Chr22:46256640 [GRCh38]
Chr22:46652537 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3442G>A (p.Gly1148Arg) single nucleotide variant not specified [RCV004509005] Chr22:46259881 [GRCh38]
Chr22:46655778 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5404A>C (p.Ser1802Arg) single nucleotide variant not specified [RCV004509014] Chr22:46257919 [GRCh38]
Chr22:46653816 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) copy number loss Phelan-McDermid syndrome [RCV003986080] Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 copy number loss not specified [RCV003986171] Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 copy number loss not specified [RCV003986178] Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_006071.2(PKDREJ):c.4486G>C (p.Glu1496Gln) single nucleotide variant not specified [RCV004509008] Chr22:46258837 [GRCh38]
Chr22:46654734 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5418T>G (p.Cys1806Trp) single nucleotide variant not specified [RCV004509015] Chr22:46257905 [GRCh38]
Chr22:46653802 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.988T>C (p.Trp330Arg) single nucleotide variant not specified [RCV004509025] Chr22:46262335 [GRCh38]
Chr22:46658232 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2344T>C (p.Trp782Arg) single nucleotide variant not specified [RCV004508998] Chr22:46260979 [GRCh38]
Chr22:46656876 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3439A>G (p.Ile1147Val) single nucleotide variant not specified [RCV004509004] Chr22:46259884 [GRCh38]
Chr22:46655781 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.3791A>G (p.His1264Arg) single nucleotide variant not specified [RCV004509006] Chr22:46259532 [GRCh38]
Chr22:46655429 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4804T>G (p.Tyr1602Asp) single nucleotide variant not specified [RCV004509011] Chr22:46258519 [GRCh38]
Chr22:46654416 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6608T>C (p.Met2203Thr) single nucleotide variant not specified [RCV004509021] Chr22:46256715 [GRCh38]
Chr22:46652612 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1210G>A (p.Ala404Thr) single nucleotide variant not specified [RCV004508993] Chr22:46262113 [GRCh38]
Chr22:46658010 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2215G>C (p.Asp739His) single nucleotide variant not specified [RCV004508996] Chr22:46261108 [GRCh38]
Chr22:46657005 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.340G>C (p.Asp114His) single nucleotide variant not specified [RCV004509003] Chr22:46262983 [GRCh38]
Chr22:46658880 [GRCh37]
Chr22:22q13.31		 uncertain significance
NC_000022.10:g.(?_45958792)_(46971995_?)del deletion not provided [RCV004579284] Chr22:45958792..46971995 [GRCh37]
Chr22:22q13.31		 pathogenic
NM_006071.2(PKDREJ):c.1891C>G (p.Pro631Ala) single nucleotide variant not specified [RCV004648443] Chr22:46261432 [GRCh38]
Chr22:46657329 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2521A>G (p.Ile841Val) single nucleotide variant not specified [RCV004648444] Chr22:46260802 [GRCh38]
Chr22:46656699 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.314C>A (p.Pro105Gln) single nucleotide variant not specified [RCV004648445] Chr22:46263009 [GRCh38]
Chr22:46658906 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2342T>C (p.Val781Ala) single nucleotide variant not specified [RCV004648446] Chr22:46260981 [GRCh38]
Chr22:46656878 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1565T>C (p.Ile522Thr) single nucleotide variant not specified [RCV004648447] Chr22:46261758 [GRCh38]
Chr22:46657655 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.727G>T (p.Ala243Ser) single nucleotide variant not specified [RCV004648448] Chr22:46262596 [GRCh38]
Chr22:46658493 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.167T>G (p.Leu56Arg) single nucleotide variant not specified [RCV004648449] Chr22:46263156 [GRCh38]
Chr22:46659053 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.32G>C (p.Gly11Ala) single nucleotide variant not specified [RCV004657379] Chr22:46263291 [GRCh38]
Chr22:46659188 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.281G>A (p.Arg94His) single nucleotide variant not specified [RCV004657380] Chr22:46263042 [GRCh38]
Chr22:46658939 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3827G>A (p.Arg1276Gln) single nucleotide variant not specified [RCV004657381] Chr22:46259496 [GRCh38]
Chr22:46655393 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.3160C>T (p.Arg1054Cys) single nucleotide variant not specified [RCV004657382] Chr22:46260163 [GRCh38]
Chr22:46656060 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1348G>T (p.Val450Leu) single nucleotide variant not specified [RCV004657383] Chr22:46261975 [GRCh38]
Chr22:46657872 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4455T>G (p.His1485Gln) single nucleotide variant not specified [RCV004657384] Chr22:46258868 [GRCh38]
Chr22:46654765 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.217G>C (p.Gly73Arg) single nucleotide variant not specified [RCV004657385] Chr22:46263106 [GRCh38]
Chr22:46659003 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6662T>C (p.Ile2221Thr) single nucleotide variant not specified [RCV004657386] Chr22:46256661 [GRCh38]
Chr22:46652558 [GRCh37]
Chr22:22q13.31		 likely benign
NM_006071.2(PKDREJ):c.4666C>G (p.Pro1556Ala) single nucleotide variant not specified [RCV004657387] Chr22:46258657 [GRCh38]
Chr22:46654554 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4718C>G (p.Pro1573Arg) single nucleotide variant not specified [RCV004657388] Chr22:46258605 [GRCh38]
Chr22:46654502 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.6206C>T (p.Ser2069Phe) single nucleotide variant not specified [RCV004657389] Chr22:46257117 [GRCh38]
Chr22:46653014 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2423C>A (p.Thr808Asn) single nucleotide variant not specified [RCV004657390] Chr22:46260900 [GRCh38]
Chr22:46656797 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.1997C>T (p.Thr666Ile) single nucleotide variant not specified [RCV004657391] Chr22:46261326 [GRCh38]
Chr22:46657223 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.2437A>G (p.Ser813Gly) single nucleotide variant not specified [RCV004657392] Chr22:46260886 [GRCh38]
Chr22:46656783 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5687T>C (p.Leu1896Pro) single nucleotide variant not specified [RCV004657393] Chr22:46257636 [GRCh38]
Chr22:46653533 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.4711G>C (p.Val1571Leu) single nucleotide variant not specified [RCV004648450] Chr22:46258612 [GRCh38]
Chr22:46654509 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_006071.2(PKDREJ):c.5516G>A (p.Gly1839Asp) single nucleotide variant not specified [RCV004648451] Chr22:46257807 [GRCh38]
Chr22:46653704 [GRCh37]
Chr22:22q13.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:375
Count of miRNA genes:320
Interacting mature miRNAs:338
Transcripts:ENST00000253255
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
PKDREJ__7006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,651,559 - 46,652,282UniSTSGRCh37
Build 362245,030,223 - 45,030,946RGDNCBI36
Celera2230,558,944 - 30,559,667RGD
HuRef2229,595,593 - 29,596,316UniSTS
AL022480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,654,269 - 46,654,644UniSTSGRCh37
Build 362245,032,933 - 45,033,308RGDNCBI36
Celera2230,561,654 - 30,562,029RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,598,303 - 29,598,678UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1199 2392 2773 2214 4838 1630 2161 2 554 1614 392 2224 6737 6077 20 3642 767 1667 1505 170

Sequence


Ensembl Acc Id: ENST00000253255   ⟹   ENSP00000253255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,255,663 - 46,263,343 (-)Ensembl
RefSeq Acc Id: NM_006071   ⟹   NP_006062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,255,663 - 46,263,343 (-)NCBI
GRCh372246,651,560 - 46,659,277 (-)NCBI
Build 362245,030,224 - 45,037,883 (-)NCBI Archive
Celera2230,558,945 - 30,566,604 (-)RGD
HuRef2229,595,594 - 29,603,195 (-)RGD
CHM1_12246,610,296 - 46,617,952 (-)NCBI
T2T-CHM13v2.02246,740,363 - 46,748,043 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_006062 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD18021 (Get FASTA)   NCBI Sequence Viewer  
  ABR22603 (Get FASTA)   NCBI Sequence Viewer  
  CAB70680 (Get FASTA)   NCBI Sequence Viewer  
  EAW73411 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000253255
  ENSP00000253255.5
GenBank Protein Q9NTG1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006062   ⟸   NM_006071
- Peptide Label: precursor
- UniProtKB: B1AJY3 (UniProtKB/Swiss-Prot),   O95850 (UniProtKB/Swiss-Prot),   Q9NTG1 (UniProtKB/Swiss-Prot),   A6MW40 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000253255   ⟸   ENST00000253255
Protein Domains
PLAT   REJ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NTG1-F1-model_v2 AlphaFold Q9NTG1 1-2253 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9015 AgrOrtholog
COSMIC PKDREJ COSMIC
Ensembl Genes ENSG00000130943 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000253255 ENTREZGENE
  ENST00000253255.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2 domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130943 GTEx
HGNC ID HGNC:9015 ENTREZGENE
Human Proteome Map PKDREJ Human Proteome Map
InterPro GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKD/REJ-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKD1_2_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT_polycystin1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Polycystin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Polycystin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  REJ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10343 UniProtKB/Swiss-Prot
NCBI Gene 10343 ENTREZGENE
OMIM 604670 OMIM
PANTHER POLYCYSTIC KIDNEY DISEASE AND RECEPTOR FOR EGG JELLY-RELATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYCYSTIN FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PKD_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Polycystin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  REJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33347 PharmGKB
PRINTS POLYCYSTIN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PLAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  REJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Lipase/lipooxygenase domain (PLAT/LH2 domain) UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A6MW40 ENTREZGENE, UniProtKB/TrEMBL
  B1AJY3 ENTREZGENE
  O95850 ENTREZGENE
  PKDRE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B1AJY3 UniProtKB/Swiss-Prot
  O95850 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-21 PKDREJ  polycystin family receptor for egg jelly  PKDREJ  polycystin (PKD) family receptor for egg jelly  Symbol and/or name change 5135510 APPROVED
2013-08-06 PKDREJ  polycystin (PKD) family receptor for egg jelly  PKDREJ  polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)  Symbol and/or name change 5135510 APPROVED