PCDHA4 (protocadherin alpha 4) - 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: PCDHA4 (protocadherin alpha 4) Homo sapiens
Analyze
Symbol: PCDHA4
Name: protocadherin alpha 4
RGD ID: 733347
HGNC Page HGNC:8670
Description: Predicted to enable calcium ion binding activity and identical protein binding activity. Predicted to be involved in cell adhesion. Predicted to be located in endoplasmic reticulum and synapse. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CNR1; CNRN1; CRNR1; KIAA0345-like 10; MGC138307; MGC142169; ortholog of mouse CNR1; ortholog of mouse CNR1, KIAA0345-like 10; PCDH-alpha-4; PCDH-ALPHA4; protocadherin alpha-4
RGD Orthologs
Mouse
Rat
Bonobo
Dog
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
GRCh385140,807,068 - 141,012,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5140,807,037 - 141,012,347 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,186,653 - 140,391,932 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,166,856 - 140,372,113 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,166,855 - 140,169,353NCBI
Celera5136,263,450 - 136,468,708 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,331,387 - 135,536,628 (+)NCBIHuRef
CHM1_15139,619,864 - 139,825,092 (+)NCBICHM1_1
T2T-CHM13v2.05141,332,401 - 141,537,634 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
endoplasmic reticulum  (ISO)
membrane  (IEA)
plasma membrane  (IBA,IEA,TAS)
synapse  (ISO)

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:10380929   PMID:10612399   PMID:10662547   PMID:10716726   PMID:10817752   PMID:10835267   PMID:11230163   PMID:12477932   PMID:15372022   PMID:16169070   PMID:21873635   PMID:22589738  
PMID:25416956   PMID:28514442   PMID:28625976   PMID:29449217   PMID:32296183   PMID:33845483   PMID:33961781   PMID:36168627  


Genomics

Comparative Map Data
PCDHA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385140,807,068 - 141,012,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5140,807,037 - 141,012,347 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,186,653 - 140,391,932 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,166,856 - 140,372,113 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,166,855 - 140,169,353NCBI
Celera5136,263,450 - 136,468,708 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,331,387 - 135,536,628 (+)NCBIHuRef
CHM1_15139,619,864 - 139,825,092 (+)NCBICHM1_1
T2T-CHM13v2.05141,332,401 - 141,537,634 (+)NCBIT2T-CHM13v2.0
Pcdha4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,085,742 - 37,320,710 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,085,701 - 37,320,714 (+)EnsemblGRCm39 Ensembl
GRCm381836,952,689 - 37,187,657 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1836,952,648 - 37,187,661 (+)EnsemblGRCm38mm10GRCm38
MGSCv371837,112,343 - 37,347,311 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,078,663 - 37,313,631 (+)NCBIMGSCv36mm8
Celera1837,399,452 - 37,411,288 (+)NCBICelera
Cytogenetic Map18B2- B3NCBI
cM Map1819.46NCBI
Pcdha4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81828,688,274 - 29,120,227 (+)NCBIGRCr8
mRatBN7.21828,581,040 - 28,846,214 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1828,581,225 - 28,846,211 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1828,730,299 - 28,973,352 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01829,492,377 - 29,735,418 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01828,827,594 - 29,070,639 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01829,950,217 - 30,215,901 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1829,987,206 - 30,215,897 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1829,966,245 - 29,968,614 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1829,972,808 - 29,975,192 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01829,670,058 - 29,924,443 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41829,683,478 - 29,928,030 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11829,710,123 - 29,954,676 (+)NCBI
Celera1828,311,641 - 28,552,754 (+)NCBICelera
Cytogenetic Map18p11NCBI
PCDHA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1 Ensembl5142,286,433 - 142,289,088 (+)Ensemblpanpan1.1panPan2
PCDHA4
(Canis lupus familiaris - dog)		 No map positions available.

Variants

.
Variants in PCDHA4
852 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_018906.2(PCDHA3):c.977G>A (p.Gly326Glu) single nucleotide variant Malignant melanoma [RCV000061128] Chr5:140802174 [GRCh38]
Chr5:140181759 [GRCh37]
Chr5:140161943 [NCBI36]
Chr5:5q31.3		 not provided
NM_018906.2(PCDHA3):c.1927C>T (p.Pro643Ser) single nucleotide variant Malignant melanoma [RCV000061129] Chr5:140803124 [GRCh38]
Chr5:140182709 [GRCh37]
Chr5:140162893 [NCBI36]
Chr5:5q31.3		 not provided
NM_018907.3(PCDHA4):c.28G>A (p.Glu10Lys) single nucleotide variant Malignant melanoma [RCV000061130] Chr5:140807215 [GRCh38]
Chr5:140186800 [GRCh37]
Chr5:140166984 [NCBI36]
Chr5:5q31.3		 not provided
NM_018907.3(PCDHA4):c.1482G>A (p.Leu494=) single nucleotide variant Malignant melanoma [RCV000061131] Chr5:140808669 [GRCh38]
Chr5:140188254 [GRCh37]
Chr5:140168438 [NCBI36]
Chr5:5q31.3		 not provided
NM_018908.2(PCDHA5):c.1567G>A (p.Asp523Asn) single nucleotide variant Malignant melanoma [RCV000061132] Chr5:140823342 [GRCh38]
Chr5:140202927 [GRCh37]
Chr5:140183111 [NCBI36]
Chr5:5q31.3		 not provided
NM_018909.3(PCDHA6):c.580C>T (p.Leu194Phe) single nucleotide variant Malignant melanoma [RCV000061133] Chr5:140828671 [GRCh38]
Chr5:140208256 [GRCh37]
Chr5:140188440 [NCBI36]
Chr5:5q31.3		 not provided
NM_018910.2(PCDHA7):c.498C>T (p.Ala166=) single nucleotide variant Malignant melanoma [RCV000061134] Chr5:140834881 [GRCh38]
Chr5:140214466 [GRCh37]
Chr5:140194650 [NCBI36]
Chr5:5q31.3		 not provided
NM_018910.2(PCDHA7):c.1054C>T (p.Leu352Phe) single nucleotide variant Malignant melanoma [RCV000061135] Chr5:140835437 [GRCh38]
Chr5:140215022 [GRCh37]
Chr5:140195206 [NCBI36]
Chr5:5q31.3		 not provided
NM_031857.1(PCDHA9):c.906C>T (p.Ile302=) single nucleotide variant Malignant melanoma [RCV000061136] Chr5:140849401 [GRCh38]
Chr5:140228986 [GRCh37]
Chr5:140209170 [NCBI36]
Chr5:5q31.3		 not provided
NM_018901.3(PCDHA10):c.803C>T (p.Ser268Leu) single nucleotide variant Malignant melanoma [RCV000061137] Chr5:140856851 [GRCh38]
Chr5:140236436 [GRCh37]
Chr5:140216620 [NCBI36]
Chr5:5q31.3		 not provided
NM_018904.2(PCDHA13):c.1372C>T (p.Pro458Ser) single nucleotide variant Malignant melanoma [RCV000061138] Chr5:140883640 [GRCh38]
Chr5:140263225 [GRCh37]
Chr5:140243409 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.3(PCDHAC1):c.1559G>C (p.Gly520Ala) single nucleotide variant Malignant melanoma [RCV000061139] Chr5:140928451 [GRCh38]
Chr5:140308036 [GRCh37]
Chr5:140288220 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.3(PCDHAC1):c.1672C>T (p.Pro558Ser) single nucleotide variant Malignant melanoma [RCV000061140] Chr5:140928564 [GRCh38]
Chr5:140308149 [GRCh37]
Chr5:140288333 [NCBI36]
Chr5:5q31.3		 not provided
NM_018899.5(PCDHAC2):c.1957G>A (p.Gly653Ser) single nucleotide variant Malignant melanoma [RCV000061141] Chr5:140968723 [GRCh38]
Chr5:140348308 [GRCh37]
Chr5:140328492 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.3(PCDHAC1):c.2742G>A (p.Gln914=) single nucleotide variant Malignant melanoma [RCV000061142] Chr5:141009787 [GRCh38]
Chr5:140389372 [GRCh37]
Chr5:140369556 [NCBI36]
Chr5:5q31.3		 not provided
NM_018906.2(PCDHA3):c.1572C>T (p.Asp524=) single nucleotide variant Malignant melanoma [RCV000066669] Chr5:140802769 [GRCh38]
Chr5:140182354 [GRCh37]
Chr5:140162538 [NCBI36]
Chr5:5q31.3		 not provided
NM_018907.3(PCDHA4):c.1672G>A (p.Glu558Lys) single nucleotide variant Malignant melanoma [RCV000066670] Chr5:140808859 [GRCh38]
Chr5:140188444 [GRCh37]
Chr5:140168628 [NCBI36]
Chr5:5q31.3		 not provided
NM_018907.3(PCDHA4):c.1823C>T (p.Ser608Leu) single nucleotide variant Malignant melanoma [RCV000066671] Chr5:140809010 [GRCh38]
Chr5:140188595 [GRCh37]
Chr5:140168779 [NCBI36]
Chr5:5q31.3		 not provided
NM_018908.2(PCDHA5):c.121G>A (p.Gly41Arg) single nucleotide variant Malignant melanoma [RCV000066672] Chr5:140821896 [GRCh38]
Chr5:140201481 [GRCh37]
Chr5:140181665 [NCBI36]
Chr5:5q31.3		 not provided
NM_018908.2(PCDHA5):c.812G>A (p.Gly271Asp) single nucleotide variant Malignant melanoma [RCV000066673] Chr5:140822587 [GRCh38]
Chr5:140202172 [GRCh37]
Chr5:140182356 [NCBI36]
Chr5:5q31.3		 not provided
NM_018908.2(PCDHA5):c.859G>A (p.Asp287Asn) single nucleotide variant Malignant melanoma [RCV000066674] Chr5:140822634 [GRCh38]
Chr5:140202219 [GRCh37]
Chr5:140182403 [NCBI36]
Chr5:5q31.3		 not provided
NM_018908.2(PCDHA5):c.1452G>A (p.Gln484=) single nucleotide variant Malignant melanoma [RCV000066675] Chr5:140823227 [GRCh38]
Chr5:140202812 [GRCh37]
Chr5:140182996 [NCBI36]
Chr5:5q31.3		 not provided
NM_018909.3(PCDHA6):c.351C>T (p.Phe117=) single nucleotide variant Malignant melanoma [RCV000066676] Chr5:140828442 [GRCh38]
Chr5:140208027 [GRCh37]
Chr5:140188211 [NCBI36]
Chr5:5q31.3		 not provided
NM_018909.3(PCDHA6):c.859G>A (p.Ala287Thr) single nucleotide variant Malignant melanoma [RCV000066677] Chr5:140828950 [GRCh38]
Chr5:140208535 [GRCh37]
Chr5:140188719 [NCBI36]
Chr5:5q31.3		 not provided
NM_018909.3(PCDHA6):c.913C>T (p.Arg305Trp) single nucleotide variant Malignant melanoma [RCV000066678] Chr5:140829004 [GRCh38]
Chr5:140208589 [GRCh37]
Chr5:140188773 [NCBI36]
Chr5:5q31.3		 not provided
NM_018911.2(PCDHA8):c.60C>T (p.Leu20=) single nucleotide variant Malignant melanoma [RCV000066679] Chr5:140841381 [GRCh38]
Chr5:140220966 [GRCh37]
Chr5:140201150 [NCBI36]
Chr5:5q31.3		 not provided
NM_018911.2(PCDHA8):c.1599C>T (p.Phe533=) single nucleotide variant Malignant melanoma [RCV000066680] Chr5:140842920 [GRCh38]
Chr5:140222505 [GRCh37]
Chr5:140202689 [NCBI36]
Chr5:5q31.3		 not provided
NM_031857.1(PCDHA9):c.449C>T (p.Ser150Phe) single nucleotide variant Malignant melanoma [RCV000066681] Chr5:140848944 [GRCh38]
Chr5:140228529 [GRCh37]
Chr5:140208713 [NCBI36]
Chr5:5q31.3		 not provided
NM_031857.1(PCDHA9):c.1405C>A (p.Pro469Thr) single nucleotide variant Malignant melanoma [RCV000066682] Chr5:140849900 [GRCh38]
Chr5:140229485 [GRCh37]
Chr5:140209669 [NCBI36]
Chr5:5q31.3		 not provided
NM_018901.3(PCDHA10):c.2070C>T (p.Ala690=) single nucleotide variant Malignant melanoma [RCV000066684] Chr5:140858118 [GRCh38]
Chr5:140237703 [GRCh37]
Chr5:140217887 [NCBI36]
Chr5:5q31.3		 not provided
NM_018903.3(PCDHA12):c.955C>T (p.Gln319Ter) single nucleotide variant Malignant melanoma [RCV000066685] Chr5:140876427 [GRCh38]
Chr5:140256012 [GRCh37]
Chr5:140236196 [NCBI36]
Chr5:5q31.3		 not provided
NM_018903.3(PCDHA12):c.2083G>A (p.Asp695Asn) single nucleotide variant Malignant melanoma [RCV000066686] Chr5:140877555 [GRCh38]
Chr5:140257140 [GRCh37]
Chr5:140237324 [NCBI36]
Chr5:5q31.3		 not provided
NM_018904.2(PCDHA13):c.693G>A (p.Thr231=) single nucleotide variant Malignant melanoma [RCV000066687] Chr5:140882961 [GRCh38]
Chr5:140262546 [GRCh37]
Chr5:140242730 [NCBI36]
Chr5:5q31.3		 not provided
NM_018904.2(PCDHA13):c.815G>A (p.Gly272Asp) single nucleotide variant Malignant melanoma [RCV000066688] Chr5:140883083 [GRCh38]
Chr5:140262668 [GRCh37]
Chr5:140242852 [NCBI36]
Chr5:5q31.3		 not provided
NM_018904.2(PCDHA13):c.977G>A (p.Gly326Glu) single nucleotide variant Malignant melanoma [RCV000066689] Chr5:140883245 [GRCh38]
Chr5:140262830 [GRCh37]
Chr5:140243014 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.3(PCDHAC1):c.1688G>A (p.Gly563Asp) single nucleotide variant Malignant melanoma [RCV000066691] Chr5:140928580 [GRCh38]
Chr5:140308165 [GRCh37]
Chr5:140288349 [NCBI36]
Chr5:5q31.3		 not provided
NM_018899.5(PCDHAC2):c.589C>T (p.Leu197Phe) single nucleotide variant Malignant melanoma [RCV000066692] Chr5:140967355 [GRCh38]
Chr5:140346940 [GRCh37]
Chr5:140327124 [NCBI36]
Chr5:5q31.3		 not provided
NM_018899.5(PCDHAC2):c.703C>T (p.Pro235Ser) single nucleotide variant Malignant melanoma [RCV000066693] Chr5:140967469 [GRCh38]
Chr5:140347054 [GRCh37]
Chr5:140327238 [NCBI36]
Chr5:5q31.3		 not provided
NM_018899.5(PCDHAC2):c.2248G>A (p.Glu750Lys) single nucleotide variant Malignant melanoma [RCV000066694] Chr5:140969014 [GRCh38]
Chr5:140348599 [GRCh37]
Chr5:140328783 [NCBI36]
Chr5:5q31.3		 not provided
NM_018901.3(PCDHA10):c.845C>T (p.Ser282Phe) single nucleotide variant Malignant melanoma [RCV000066683] Chr5:140856893 [GRCh38]
Chr5:140236478 [GRCh37]
Chr5:140216662 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.3(PCDHAC1):c.1359C>T (p.Phe453=) single nucleotide variant Malignant melanoma [RCV000066690] Chr5:140928251 [GRCh38]
Chr5:140307836 [GRCh37]
Chr5:140288020 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.5(PCDHAC1):c.2396G>A (p.Arg799Gln) single nucleotide variant not provided [RCV000122558] Chr5:140929288 [GRCh38]
Chr5:140308873 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1166C>T (p.Thr389Met) single nucleotide variant Malignant tumor of prostate [RCV000149260] Chr5:140857214 [GRCh38]
Chr5:140236799 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1 copy number loss See cases [RCV000136949] Chr5:140963199..142322798 [GRCh38]
Chr5:140453735..141702363 [GRCh37]
Chr5:140322968..141682547 [NCBI36]
Chr5:5q31.3		 uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1937G>T (p.Arg646Leu) single nucleotide variant not specified [RCV004301665] Chr5:140850432 [GRCh38]
Chr5:140230017 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_018902.5(PCDHA11):c.982C>T (p.Pro328Ser) single nucleotide variant not specified [RCV004333407] Chr5:140870085 [GRCh38]
Chr5:140249670 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_018901.4(PCDHA10):c.897A>T (p.Gly299=) single nucleotide variant not specified [RCV000429816] Chr5:140856945 [GRCh38]
Chr5:140236530 [GRCh37]
Chr5:5q31.3		 likely benign
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000508600]|not provided [RCV004692884] Chr5:140978974 [GRCh38]
Chr5:140358559 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_018910.3(PCDHA7):c.1739T>C (p.Leu580Pro) single nucleotide variant not specified [RCV004287625] Chr5:140836122 [GRCh38]
Chr5:140215707 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1337C>G (p.Ala446Gly) single nucleotide variant not specified [RCV004298132] Chr5:140883605 [GRCh38]
Chr5:140263190 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1553A>T (p.Tyr518Phe) single nucleotide variant not specified [RCV004312482] Chr5:140883821 [GRCh38]
Chr5:140263406 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.143C>T (p.Ala48Val) single nucleotide variant not specified [RCV004316202] Chr5:140856191 [GRCh38]
Chr5:140235776 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1924G>A (p.Ala642Thr) single nucleotide variant not specified [RCV004288067] Chr5:140836307 [GRCh38]
Chr5:140215892 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.335C>T (p.Pro112Leu) single nucleotide variant not specified [RCV004288132] Chr5:140822110 [GRCh38]
Chr5:140201695 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.867A>G (p.Ile289Met) single nucleotide variant not specified [RCV004327953] Chr5:140835250 [GRCh38]
Chr5:140214835 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1796C>A (p.Ala599Asp) single nucleotide variant not specified [RCV004298436] Chr5:140843117 [GRCh38]
Chr5:140222702 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.123C>A (p.His41Gln) single nucleotide variant not specified [RCV004322849] Chr5:140841444 [GRCh38]
Chr5:140221029 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.119A>C (p.Lys40Thr) single nucleotide variant not specified [RCV004310532] Chr5:140828210 [GRCh38]
Chr5:140207795 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.145G>T (p.Ala49Ser) single nucleotide variant not specified [RCV004289697] Chr5:140807332 [GRCh38]
Chr5:140186917 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1601A>G (p.Gln534Arg) single nucleotide variant not specified [RCV004333018] Chr5:140877073 [GRCh38]
Chr5:140256658 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1439A>G (p.Gln480Arg) single nucleotide variant not specified [RCV004333817] Chr5:140883707 [GRCh38]
Chr5:140263292 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.344A>C (p.Gln115Pro) single nucleotide variant not specified [RCV004318687] Chr5:140875816 [GRCh38]
Chr5:140255401 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2088C>A (p.Asn696Lys) single nucleotide variant not specified [RCV004316299] Chr5:140823863 [GRCh38]
Chr5:140203448 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1765C>A (p.Gln589Lys) single nucleotide variant not specified [RCV004315913] Chr5:140829856 [GRCh38]
Chr5:140209441 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1316C>T (p.Ala439Val) single nucleotide variant not specified [RCV004295103] Chr5:140842637 [GRCh38]
Chr5:140222222 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.212A>G (p.His71Arg) single nucleotide variant not specified [RCV004312477] Chr5:140875684 [GRCh38]
Chr5:140255269 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018908.3(PCDHA5):c.208C>G (p.Arg70Gly) single nucleotide variant not specified [RCV004333820] Chr5:140821983 [GRCh38]
Chr5:140201568 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1390G>A (p.Val464Met) single nucleotide variant not specified [RCV004324069] Chr5:140829481 [GRCh38]
Chr5:140209066 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1942G>C (p.Val648Leu) single nucleotide variant not specified [RCV004320426] Chr5:140857990 [GRCh38]
Chr5:140237575 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.337C>G (p.Pro113Ala) single nucleotide variant not specified [RCV004315650] Chr5:140848832 [GRCh38]
Chr5:140228417 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.170C>A (p.Ala57Glu) single nucleotide variant not specified [RCV004295662] Chr5:140841491 [GRCh38]
Chr5:140221076 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1112T>G (p.Leu371Arg) single nucleotide variant not specified [RCV004316203] Chr5:140829203 [GRCh38]
Chr5:140208788 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1256C>T (p.Ala419Val) single nucleotide variant not specified [RCV004320771] Chr5:140857304 [GRCh38]
Chr5:140236889 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1671C>A (p.Asp557Glu) single nucleotide variant not specified [RCV004300164] Chr5:140836054 [GRCh38]
Chr5:140215639 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1574A>G (p.His525Arg) single nucleotide variant not specified [RCV004333017] Chr5:140877046 [GRCh38]
Chr5:140256631 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1255T>G (p.Ser419Ala) single nucleotide variant not specified [RCV004333811] Chr5:140883523 [GRCh38]
Chr5:140263108 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1505A>G (p.His502Arg) single nucleotide variant not specified [RCV004312472] Chr5:140876977 [GRCh38]
Chr5:140256562 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.208A>G (p.Arg70Gly) single nucleotide variant not specified [RCV004312474] Chr5:140875680 [GRCh38]
Chr5:140255265 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.211C>G (p.His71Asp) single nucleotide variant not specified [RCV004312476] Chr5:140875683 [GRCh38]
Chr5:140255268 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.128C>A (p.Thr43Asn) single nucleotide variant PCDHA9-related disorder [RCV003928973]|not specified [RCV004313954] Chr5:140848623 [GRCh38]
Chr5:140228208 [GRCh37]
Chr5:5q31.3		 likely benign|uncertain significance
NM_018901.4(PCDHA10):c.380A>G (p.Asp127Gly) single nucleotide variant not specified [RCV004302379] Chr5:140856428 [GRCh38]
Chr5:140236013 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.128C>A (p.Thr43Asn) single nucleotide variant not specified [RCV004294125] Chr5:140882396 [GRCh38]
Chr5:140261981 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1471T>G (p.Ser491Ala) single nucleotide variant not specified [RCV004312471] Chr5:140876943 [GRCh38]
Chr5:140256528 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1598A>G (p.Gln533Arg) single nucleotide variant not specified [RCV004312483] Chr5:140823373 [GRCh38]
Chr5:140202958 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1613A>G (p.Asp538Gly) single nucleotide variant not specified [RCV004313469] Chr5:140870716 [GRCh38]
Chr5:140250301 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1372C>A (p.Pro458Thr) single nucleotide variant not specified [RCV004330007] Chr5:140876844 [GRCh38]
Chr5:140256429 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.804T>A (p.Asp268Glu) single nucleotide variant not specified [RCV004319204] Chr5:140883072 [GRCh38]
Chr5:140262657 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1308G>C (p.Trp436Cys) single nucleotide variant not specified [RCV004288569] Chr5:140808495 [GRCh38]
Chr5:140188080 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1853C>T (p.Pro618Leu) single nucleotide variant not specified [RCV004317724] Chr5:140843174 [GRCh38]
Chr5:140222759 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.484G>T (p.Val162Phe) single nucleotide variant not specified [RCV004290441] Chr5:140828575 [GRCh38]
Chr5:140208160 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1859C>G (p.Pro620Arg) single nucleotide variant not specified [RCV004309667] Chr5:140823634 [GRCh38]
Chr5:140203219 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 copy number loss not provided [RCV000682600] Chr5:139147238..141540491 [GRCh37]
Chr5:5q31.2-31.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q31.3(chr5:140181892-140303139)x3 copy number gain not provided [RCV000745213] Chr5:140181892..140303139 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140212676-140228164)x1 copy number loss not provided [RCV000745214] Chr5:140212676..140228164 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140215845-140227876)x1 copy number loss not provided [RCV000745215] Chr5:140215845..140227876 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140215845-140228164)x1 copy number loss not provided [RCV000745216] Chr5:140215845..140228164 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140215845-140244335)x1 copy number loss not provided [RCV000745217] Chr5:140215845..140244335 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140222641-140244335)x1 copy number loss not provided [RCV000745218] Chr5:140222641..140244335 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140223666-140244335)x0 copy number loss not provided [RCV000745219] Chr5:140223666..140244335 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140228262-140264271)x3 copy number gain not provided [RCV000745220] Chr5:140228262..140264271 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140229435-140261235)x3 copy number gain not provided [RCV000745221] Chr5:140229435..140261235 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140244335-140282431)x1 copy number loss not provided [RCV000745222] Chr5:140244335..140282431 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140266429-140298815)x0 copy number loss not provided [RCV000745223] Chr5:140266429..140298815 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140101612-140271424)x3 copy number gain not provided [RCV000745200] Chr5:140101612..140271424 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140102539-140347053)x1 copy number loss not provided [RCV000745201] Chr5:140102539..140347053 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140115433-140222641)x1 copy number loss not provided [RCV000745202] Chr5:140115433..140222641 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140115433-140238694)x1 copy number loss not provided [RCV000745203] Chr5:140115433..140238694 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140162610-140282431)x1 copy number loss not provided [RCV000745207] Chr5:140162610..140282431 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140115433-140264271)x3 copy number gain not provided [RCV000745204] Chr5:140115433..140264271 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140115433-140282431)x1 copy number loss not provided [RCV000745205] Chr5:140115433..140282431 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140115433-140344242)x1 copy number loss not provided [RCV000745206] Chr5:140115433..140344242 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140166534-140271424)x3 copy number gain not provided [RCV000745208] Chr5:140166534..140271424 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140176243-140264271)x3 copy number gain not provided [RCV000745209] Chr5:140176243..140264271 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140176840-140264271)x3 copy number gain not provided [RCV000745210] Chr5:140176840..140264271 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140176842-140264271)x3 copy number gain not provided [RCV000745211] Chr5:140176842..140264271 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140181359-140264271)x3 copy number gain not provided [RCV000745212] Chr5:140181359..140264271 [GRCh37]
Chr5:5q31.3		 benign
NM_018911.3(PCDHA8):c.2197C>G (p.Arg733Gly) single nucleotide variant not specified [RCV004288296] Chr5:140843518 [GRCh38]
Chr5:140223103 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018909.4(PCDHA6):c.271G>C (p.Asp91His) single nucleotide variant not specified [RCV004324471] Chr5:140828362 [GRCh38]
Chr5:140207947 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1495G>T (p.Val499Leu) single nucleotide variant not specified [RCV004322313] Chr5:140876967 [GRCh38]
Chr5:140256552 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1503G>C (p.Glu501Asp) single nucleotide variant not specified [RCV004322314] Chr5:140876975 [GRCh38]
Chr5:140256560 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.703G>A (p.Val235Met) single nucleotide variant not provided [RCV001572857] Chr5:140876175 [GRCh38]
Chr5:140255760 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018906.3(PCDHA3):c.2670C>A (p.Ile890=) single nucleotide variant not provided [RCV000881803] Chr5:141009754 [GRCh38]
Chr5:140389339 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2406C>G (p.Pro802=) single nucleotide variant not provided [RCV000922554] Chr5:140978960 [GRCh38]
Chr5:140358545 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.2492C>G (p.Pro831Arg) single nucleotide variant PCDHA9-related disorder [RCV003913300]|not provided [RCV000950135] Chr5:140982540 [GRCh38]
Chr5:140362125 [GRCh37]
Chr5:5q31.3		 benign|likely benign
NM_018904.3(PCDHA13):c.1231A>G (p.Ser411Gly) single nucleotide variant not specified [RCV004333808] Chr5:140883499 [GRCh38]
Chr5:140263084 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1331G>A (p.Gly444Glu) single nucleotide variant not specified [RCV004333814] Chr5:140883599 [GRCh38]
Chr5:140263184 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1546A>C (p.Lys516Gln) single nucleotide variant not specified [RCV004333015] Chr5:140877018 [GRCh38]
Chr5:140256603 [GRCh37]
Chr5:5q31.3		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5q31.3(chr5:140160851-140207139)x1 copy number loss not provided [RCV000849464] Chr5:140160851..140207139 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.193G>A (p.Val65Met) single nucleotide variant not specified [RCV004333819] Chr5:140821968 [GRCh38]
Chr5:140201553 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1973C>T (p.Ala658Val) single nucleotide variant not specified [RCV004298093] Chr5:140877445 [GRCh38]
Chr5:140257030 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1208T>A (p.Leu403Gln) single nucleotide variant not specified [RCV004319220] Chr5:140928100 [GRCh38]
Chr5:140307685 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.346G>T (p.Val116Phe) single nucleotide variant not specified [RCV004289291] Chr5:140828437 [GRCh38]
Chr5:140208022 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.455T>G (p.Phe152Cys) single nucleotide variant not specified [RCV004308059] Chr5:140841776 [GRCh38]
Chr5:140221361 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.701A>G (p.Asp234Gly) single nucleotide variant not specified [RCV004306066] Chr5:140828792 [GRCh38]
Chr5:140208377 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.2038T>A (p.Ser680Thr) single nucleotide variant not specified [RCV004301866] Chr5:140830129 [GRCh38]
Chr5:140209714 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1677C>G (p.Asn559Lys) single nucleotide variant not specified [RCV004298928] Chr5:140877149 [GRCh38]
Chr5:140256734 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1459G>A (p.Val487Ile) single nucleotide variant not specified [RCV004299002] Chr5:140928351 [GRCh38]
Chr5:140307936 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.2613C>T (p.Tyr871=) single nucleotide variant not provided [RCV000879250] Chr5:141009697 [GRCh38]
Chr5:140389282 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.1468T>G (p.Ser490Ala) single nucleotide variant not specified [RCV004312465] Chr5:140870571 [GRCh38]
Chr5:140250156 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2388+34T>C single nucleotide variant not provided [RCV001710086] Chr5:140858470 [GRCh38]
Chr5:140238055 [GRCh37]
Chr5:5q31.3		 benign
NM_018900.4(PCDHA1):c.2394+67303_2394+69956del deletion Thrombocytosis [RCV001252978] Chr5:140855985..140858638 [GRCh38]
Chr5:140235570..140238223 [GRCh37]
Chr5:5q31.3		 uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3		 uncertain significance
NM_018907.4(PCDHA4):c.2499T>A (p.Asp833Glu) single nucleotide variant not provided [RCV001454211] Chr5:140982529 [GRCh38]
Chr5:140362114 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1320G>C (p.Arg440Ser) single nucleotide variant not specified [RCV004298875] Chr5:140849815 [GRCh38]
Chr5:140229400 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.968A>G (p.Asp323Gly) single nucleotide variant not specified [RCV004331738] Chr5:140870071 [GRCh38]
Chr5:140249656 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1438G>A (p.Gly480Arg) single nucleotide variant not specified [RCV004328985] Chr5:140835821 [GRCh38]
Chr5:140215406 [GRCh37]
Chr5:5q31.3		 likely benign
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1 copy number loss PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202] Chr5:139493717..140517454 [GRCh37]
Chr5:5q31.2-31.3		 pathogenic
NM_018907.4(PCDHA4):c.1375G>A (p.Glu459Lys) single nucleotide variant not specified [RCV004271558] Chr5:140808562 [GRCh38]
Chr5:140188147 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_018902.5(PCDHA11):c.1550A>T (p.Tyr517Phe) single nucleotide variant not specified [RCV004312469] Chr5:140870653 [GRCh38]
Chr5:140250238 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.210A>C (p.Arg70Ser) single nucleotide variant not specified [RCV004312475] Chr5:140875682 [GRCh38]
Chr5:140255267 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1471T>G (p.Ser491Ala) single nucleotide variant not specified [RCV004312480] Chr5:140883739 [GRCh38]
Chr5:140263324 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1444G>C (p.Ala482Pro) single nucleotide variant not specified [RCV004306432] Chr5:140883712 [GRCh38]
Chr5:140263297 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1463T>G (p.Leu488Arg) single nucleotide variant not specified [RCV004312464] Chr5:140870566 [GRCh38]
Chr5:140250151 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.299C>T (p.Ala100Val) single nucleotide variant not specified [RCV004312486] Chr5:140848794 [GRCh38]
Chr5:140228379 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1466T>G (p.Leu489Arg) single nucleotide variant not specified [RCV004312478] Chr5:140883734 [GRCh38]
Chr5:140263319 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1543A>C (p.Lys515Gln) single nucleotide variant not specified [RCV004312467] Chr5:140870646 [GRCh38]
Chr5:140250231 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1466T>G (p.Leu489Arg) single nucleotide variant not specified [RCV004312470] Chr5:140876938 [GRCh38]
Chr5:140256523 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.196G>A (p.Val66Met) single nucleotide variant not specified [RCV004312473] Chr5:140875668 [GRCh38]
Chr5:140255253 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1622T>C (p.Val541Ala) single nucleotide variant not specified [RCV004312484] Chr5:140823397 [GRCh38]
Chr5:140202982 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.286C>G (p.Arg96Gly) single nucleotide variant not specified [RCV004312485] Chr5:140822061 [GRCh38]
Chr5:140201646 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018911.3(PCDHA8):c.1493G>T (p.Arg498Leu) single nucleotide variant not specified [RCV004328935] Chr5:140842814 [GRCh38]
Chr5:140222399 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2354G>A (p.Gly785Glu) single nucleotide variant not specified [RCV004302693] Chr5:140871457 [GRCh38]
Chr5:140251042 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1553A>T (p.Tyr518Phe) single nucleotide variant not specified [RCV004333016] Chr5:140877025 [GRCh38]
Chr5:140256610 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1625T>C (p.Val542Ala) single nucleotide variant not specified [RCV004333807] Chr5:140877097 [GRCh38]
Chr5:140256682 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1234G>A (p.Ala412Thr) single nucleotide variant not specified [RCV004333809] Chr5:140883502 [GRCh38]
Chr5:140263087 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.612C>A (p.Asp204Glu) single nucleotide variant not specified [RCV004139771] Chr5:140841933 [GRCh38]
Chr5:140221518 [GRCh37]
Chr5:5q31.3		 likely benign
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3 copy number gain not provided [RCV002474614] Chr5:140082762..140773954 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.345G>C (p.Gln115His) single nucleotide variant not specified [RCV004162122] Chr5:140875817 [GRCh38]
Chr5:140255402 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2280G>C (p.Glu760Asp) single nucleotide variant not specified [RCV004141716] Chr5:140871383 [GRCh38]
Chr5:140250968 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1442C>T (p.Ala481Val) single nucleotide variant not specified [RCV004088677] Chr5:140870545 [GRCh38]
Chr5:140250130 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.701C>T (p.Ala234Val) single nucleotide variant not specified [RCV004220665] Chr5:140856749 [GRCh38]
Chr5:140236334 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.320A>G (p.Glu107Gly) single nucleotide variant not specified [RCV004092544] Chr5:140882588 [GRCh38]
Chr5:140262173 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1804G>A (p.Gly602Ser) single nucleotide variant not specified [RCV004216967] Chr5:140829895 [GRCh38]
Chr5:140209480 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.881A>G (p.Gln294Arg) single nucleotide variant not specified [RCV004127145] Chr5:140927773 [GRCh38]
Chr5:140307358 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1001G>A (p.Cys334Tyr) single nucleotide variant not specified [RCV004129011] Chr5:140849496 [GRCh38]
Chr5:140229081 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2224A>G (p.Ile742Val) single nucleotide variant not specified [RCV004171315] Chr5:140929116 [GRCh38]
Chr5:140308701 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018898.5(PCDHAC1):c.143C>A (p.Ala48Asp) single nucleotide variant not specified [RCV004136321] Chr5:140927035 [GRCh38]
Chr5:140306620 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1973C>T (p.Ala658Val) single nucleotide variant not specified [RCV004239475] Chr5:140830064 [GRCh38]
Chr5:140209649 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.107A>C (p.Tyr36Ser) single nucleotide variant not specified [RCV004100932] Chr5:140875579 [GRCh38]
Chr5:140255164 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.2185G>A (p.Glu729Lys) single nucleotide variant not specified [RCV004230959] Chr5:140830276 [GRCh38]
Chr5:140209861 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.361G>T (p.Val121Leu) single nucleotide variant not specified [RCV004194302] Chr5:140875833 [GRCh38]
Chr5:140255418 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1904T>C (p.Val635Ala) single nucleotide variant not specified [RCV004125849] Chr5:140968670 [GRCh38]
Chr5:140348255 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.179T>C (p.Val60Ala) single nucleotide variant not specified [RCV004137792] Chr5:140875651 [GRCh38]
Chr5:140255236 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.319G>C (p.Glu107Gln) single nucleotide variant not specified [RCV004140390] Chr5:140807506 [GRCh38]
Chr5:140187091 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1517G>A (p.Ser506Asn) single nucleotide variant not specified [RCV004131766] Chr5:140850012 [GRCh38]
Chr5:140229597 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1775C>G (p.Ala592Gly) single nucleotide variant not specified [RCV004240312] Chr5:140829866 [GRCh38]
Chr5:140209451 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.516T>G (p.Ser172Arg) single nucleotide variant not specified [RCV004240374] Chr5:140856564 [GRCh38]
Chr5:140236149 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1697T>C (p.Val566Ala) single nucleotide variant not specified [RCV004108474] Chr5:140823472 [GRCh38]
Chr5:140203057 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.361G>A (p.Val121Met) single nucleotide variant not specified [RCV004128515] Chr5:140875833 [GRCh38]
Chr5:140255418 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.996C>A (p.His332Gln) single nucleotide variant not specified [RCV004140063] Chr5:140870099 [GRCh38]
Chr5:140249684 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1991C>T (p.Thr664Met) single nucleotide variant not specified [RCV004235538] Chr5:140830082 [GRCh38]
Chr5:140209667 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.106G>T (p.Val36Leu) single nucleotide variant not specified [RCV004148880] Chr5:140926998 [GRCh38]
Chr5:140306583 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1469T>C (p.Val490Ala) single nucleotide variant not specified [RCV004188344] Chr5:140876941 [GRCh38]
Chr5:140256526 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1387A>G (p.Asn463Asp) single nucleotide variant not specified [RCV004091016] Chr5:140968153 [GRCh38]
Chr5:140347738 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.322G>A (p.Val108Met) single nucleotide variant not specified [RCV004226680] Chr5:140828413 [GRCh38]
Chr5:140207998 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2038G>T (p.Val680Leu) single nucleotide variant not specified [RCV004204006] Chr5:140968804 [GRCh38]
Chr5:140348389 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.509A>G (p.Tyr170Cys) single nucleotide variant not specified [RCV004100327] Chr5:140875981 [GRCh38]
Chr5:140255566 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1864C>T (p.Arg622Cys) single nucleotide variant not specified [RCV004100894] Chr5:140857912 [GRCh38]
Chr5:140237497 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.2288G>A (p.Gly763Asp) single nucleotide variant not specified [RCV004117322] Chr5:140850783 [GRCh38]
Chr5:140230368 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1918G>A (p.Ala640Thr) single nucleotide variant not specified [RCV004160223] Chr5:140843239 [GRCh38]
Chr5:140222824 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.545T>C (p.Ile182Thr) single nucleotide variant not specified [RCV004129197] Chr5:140876017 [GRCh38]
Chr5:140255602 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1219G>A (p.Val407Met) single nucleotide variant not provided [RCV004696242]|not specified [RCV004217999] Chr5:140822994 [GRCh38]
Chr5:140202579 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.214C>G (p.Arg72Gly) single nucleotide variant not specified [RCV004182364] Chr5:140841535 [GRCh38]
Chr5:140221120 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.2013C>A (p.Ser671Arg) single nucleotide variant not specified [RCV004204464] Chr5:140871116 [GRCh38]
Chr5:140250701 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.384C>G (p.Asp128Glu) single nucleotide variant not specified [RCV004164281] Chr5:140848879 [GRCh38]
Chr5:140228464 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1249G>T (p.Val417Leu) single nucleotide variant not specified [RCV004121832] Chr5:140870352 [GRCh38]
Chr5:140249937 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1075G>C (p.Val359Leu) single nucleotide variant not specified [RCV004191480] Chr5:140849570 [GRCh38]
Chr5:140229155 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1636G>A (p.Gly546Ser) single nucleotide variant not specified [RCV004193522] Chr5:140877108 [GRCh38]
Chr5:140256693 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1688C>A (p.Pro563Gln) single nucleotide variant not specified [RCV004104649] Chr5:140877160 [GRCh38]
Chr5:140256745 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1768G>A (p.Val590Met) single nucleotide variant not specified [RCV004097490] Chr5:140808955 [GRCh38]
Chr5:140188540 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.38G>T (p.Arg13Leu) single nucleotide variant not specified [RCV004090210] Chr5:140875510 [GRCh38]
Chr5:140255095 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.125G>A (p.Gly42Asp) single nucleotide variant not specified [RCV004217154] Chr5:140848620 [GRCh38]
Chr5:140228205 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1261G>A (p.Glu421Lys) single nucleotide variant not specified [RCV004192997] Chr5:140870364 [GRCh38]
Chr5:140249949 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2111T>C (p.Ile704Thr) single nucleotide variant not specified [RCV004098181] Chr5:140968877 [GRCh38]
Chr5:140348462 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1151A>T (p.Gln384Leu) single nucleotide variant not specified [RCV004216610] Chr5:140829242 [GRCh38]
Chr5:140208827 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2045C>T (p.Ala682Val) single nucleotide variant not specified [RCV004239018] Chr5:140836428 [GRCh38]
Chr5:140216013 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1523C>T (p.Ser508Leu) single nucleotide variant not specified [RCV004118095] Chr5:140870626 [GRCh38]
Chr5:140250211 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2197C>T (p.Arg733Trp) single nucleotide variant not specified [RCV004074772] Chr5:140823972 [GRCh38]
Chr5:140203557 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1503G>T (p.Glu501Asp) single nucleotide variant not specified [RCV004121235] Chr5:140835886 [GRCh38]
Chr5:140215471 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.682A>G (p.Thr228Ala) single nucleotide variant not specified [RCV004096588] Chr5:140967448 [GRCh38]
Chr5:140347033 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.81C>G (p.Ser27Arg) single nucleotide variant not specified [RCV004127299] Chr5:140856129 [GRCh38]
Chr5:140235714 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1645G>A (p.Val549Met) single nucleotide variant not specified [RCV004106224] Chr5:140883913 [GRCh38]
Chr5:140263498 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1522G>A (p.Val508Met) single nucleotide variant not specified [RCV004146133] Chr5:140883790 [GRCh38]
Chr5:140263375 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.275A>G (p.Glu92Gly) single nucleotide variant not specified [RCV004131172] Chr5:140856323 [GRCh38]
Chr5:140235908 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1078G>A (p.Glu360Lys) single nucleotide variant not specified [RCV004202208] Chr5:140822853 [GRCh38]
Chr5:140202438 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1760C>A (p.Ala587Glu) single nucleotide variant not specified [RCV004166464] Chr5:140836143 [GRCh38]
Chr5:140215728 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.91C>T (p.His31Tyr) single nucleotide variant not specified [RCV004106223] Chr5:140856139 [GRCh38]
Chr5:140235724 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.436G>A (p.Ala146Thr) single nucleotide variant not specified [RCV004100896] Chr5:140875908 [GRCh38]
Chr5:140255493 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1204C>A (p.Pro402Thr) single nucleotide variant not specified [RCV004141786] Chr5:140928096 [GRCh38]
Chr5:140307681 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.811C>T (p.Pro271Ser) single nucleotide variant not specified [RCV004100346] Chr5:140967577 [GRCh38]
Chr5:140347162 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1760C>T (p.Ala587Val) single nucleotide variant not specified [RCV004225165] Chr5:140836143 [GRCh38]
Chr5:140215728 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1737G>C (p.Glu579Asp) single nucleotide variant not specified [RCV004130003] Chr5:140836120 [GRCh38]
Chr5:140215705 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1969C>A (p.Pro657Thr) single nucleotide variant not specified [RCV004181404] Chr5:140809156 [GRCh38]
Chr5:140188741 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.158G>A (p.Gly53Glu) single nucleotide variant not specified [RCV004233575] Chr5:140869261 [GRCh38]
Chr5:140248846 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1054C>G (p.Leu352Val) single nucleotide variant not specified [RCV004106439] Chr5:140835437 [GRCh38]
Chr5:140215022 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.2111T>C (p.Ile704Thr) single nucleotide variant not specified [RCV004140127] Chr5:140877583 [GRCh38]
Chr5:140257168 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.2158G>A (p.Ala720Thr) single nucleotide variant not specified [RCV004097066] Chr5:140809345 [GRCh38]
Chr5:140188930 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.680G>C (p.Arg227Pro) single nucleotide variant not specified [RCV004184307] Chr5:140869783 [GRCh38]
Chr5:140249368 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.644C>T (p.Thr215Ile) single nucleotide variant not specified [RCV004153828] Chr5:140841965 [GRCh38]
Chr5:140221550 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1700C>A (p.Ala567Glu) single nucleotide variant not specified [RCV004205718] Chr5:140836083 [GRCh38]
Chr5:140215668 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1862C>T (p.Pro621Leu) single nucleotide variant not specified [RCV004124510] Chr5:140809049 [GRCh38]
Chr5:140188634 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1814C>T (p.Ala605Val) single nucleotide variant not specified [RCV004174422] Chr5:140843135 [GRCh38]
Chr5:140222720 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.4C>G (p.Leu2Val) single nucleotide variant not specified [RCV004150476] Chr5:140882272 [GRCh38]
Chr5:140261857 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018910.3(PCDHA7):c.1975C>G (p.Leu659Val) single nucleotide variant not specified [RCV004233308] Chr5:140836358 [GRCh38]
Chr5:140215943 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1802C>T (p.Ser601Leu) single nucleotide variant not specified [RCV004119610] Chr5:140808989 [GRCh38]
Chr5:140188574 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1540G>C (p.Gly514Arg) single nucleotide variant not specified [RCV004206511] Chr5:140823315 [GRCh38]
Chr5:140202900 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.949A>C (p.Lys317Gln) single nucleotide variant not specified [RCV004118779] Chr5:140849444 [GRCh38]
Chr5:140229029 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1490G>T (p.Arg497Leu) single nucleotide variant not specified [RCV004194704] Chr5:140876962 [GRCh38]
Chr5:140256547 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.382G>C (p.Asp128His) single nucleotide variant not specified [RCV004133368] Chr5:140807569 [GRCh38]
Chr5:140187154 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.827C>A (p.Thr276Lys) single nucleotide variant not specified [RCV004095333] Chr5:140927719 [GRCh38]
Chr5:140307304 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2155A>G (p.Thr719Ala) single nucleotide variant not specified [RCV004101864] Chr5:140884423 [GRCh38]
Chr5:140264008 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2194T>C (p.Cys732Arg) single nucleotide variant not specified [RCV004131345] Chr5:140836577 [GRCh38]
Chr5:140216162 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.167C>A (p.Ala56Glu) single nucleotide variant not specified [RCV004177600] Chr5:140856215 [GRCh38]
Chr5:140235800 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.827A>C (p.Asp276Ala) single nucleotide variant not specified [RCV004124512] Chr5:140849322 [GRCh38]
Chr5:140228907 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.917C>T (p.Thr306Ile) single nucleotide variant not specified [RCV004162456] Chr5:140870020 [GRCh38]
Chr5:140249605 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.746T>C (p.Val249Ala) single nucleotide variant not specified [RCV004075893] Chr5:140807933 [GRCh38]
Chr5:140187518 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2308G>A (p.Ala770Thr) single nucleotide variant not specified [RCV004118977] Chr5:140824083 [GRCh38]
Chr5:140203668 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1127A>C (p.His376Pro) single nucleotide variant not specified [RCV004234108] Chr5:140857175 [GRCh38]
Chr5:140236760 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.452A>G (p.Asp151Gly) single nucleotide variant not specified [RCV004189313] Chr5:140927344 [GRCh38]
Chr5:140306929 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1897A>C (p.Thr633Pro) single nucleotide variant not specified [RCV004245241] Chr5:140877369 [GRCh38]
Chr5:140256954 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.778C>A (p.Pro260Thr) single nucleotide variant not specified [RCV004132204] Chr5:140927670 [GRCh38]
Chr5:140307255 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.913G>C (p.Asp305His) single nucleotide variant not specified [RCV004225802] Chr5:140856961 [GRCh38]
Chr5:140236546 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.394G>A (p.Val132Met) single nucleotide variant not specified [RCV004145749] Chr5:140869497 [GRCh38]
Chr5:140249082 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2345C>G (p.Ser782Cys) single nucleotide variant not specified [RCV004104651] Chr5:140836728 [GRCh38]
Chr5:140216313 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.369G>C (p.Lys123Asn) single nucleotide variant not specified [RCV004172762] Chr5:140856417 [GRCh38]
Chr5:140236002 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1310C>G (p.Thr437Arg) single nucleotide variant not specified [RCV004079776] Chr5:140870413 [GRCh38]
Chr5:140249998 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.178G>A (p.Val60Met) single nucleotide variant not specified [RCV004131453] Chr5:140828269 [GRCh38]
Chr5:140207854 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1765G>T (p.Val589Leu) single nucleotide variant not specified [RCV004185975] Chr5:140850260 [GRCh38]
Chr5:140229845 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1519G>C (p.Val507Leu) single nucleotide variant not specified [RCV004162622] Chr5:140823294 [GRCh38]
Chr5:140202879 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.14G>T (p.Trp5Leu) single nucleotide variant not specified [RCV004232800] Chr5:140882282 [GRCh38]
Chr5:140261867 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1846G>T (p.Ala616Ser) single nucleotide variant not specified [RCV004222878] Chr5:140850341 [GRCh38]
Chr5:140229926 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.540C>G (p.Ser180Arg) single nucleotide variant not specified [RCV004226120] Chr5:140927432 [GRCh38]
Chr5:140307017 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.489G>T (p.Glu163Asp) single nucleotide variant not specified [RCV004185679] Chr5:140856537 [GRCh38]
Chr5:140236122 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1115G>C (p.Ser372Thr) single nucleotide variant not specified [RCV004158680] Chr5:140822890 [GRCh38]
Chr5:140202475 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018909.4(PCDHA6):c.989T>A (p.Met330Lys) single nucleotide variant not specified [RCV004157044] Chr5:140829080 [GRCh38]
Chr5:140208665 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1102G>T (p.Val368Phe) single nucleotide variant not specified [RCV004076080] Chr5:140835485 [GRCh38]
Chr5:140215070 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.418G>A (p.Val140Ile) single nucleotide variant not specified [RCV004112400] Chr5:140875890 [GRCh38]
Chr5:140255475 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.106T>C (p.Tyr36His) single nucleotide variant not specified [RCV004130140] Chr5:140875578 [GRCh38]
Chr5:140255163 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1855C>G (p.Arg619Gly) single nucleotide variant not specified [RCV004154286] Chr5:140843176 [GRCh38]
Chr5:140222761 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2011G>C (p.Gly671Arg) single nucleotide variant not specified [RCV004102018] Chr5:140858059 [GRCh38]
Chr5:140237644 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1137T>G (p.Phe379Leu) single nucleotide variant not specified [RCV004112159] Chr5:140835520 [GRCh38]
Chr5:140215105 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2131G>A (p.Val711Met) single nucleotide variant not specified [RCV004175002] Chr5:140823906 [GRCh38]
Chr5:140203491 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.104C>G (p.Pro35Arg) single nucleotide variant not specified [RCV004180239] Chr5:140821879 [GRCh38]
Chr5:140201464 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1193G>A (p.Arg398Gln) single nucleotide variant not specified [RCV004100838] Chr5:140967959 [GRCh38]
Chr5:140347544 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1496G>C (p.Gly499Ala) single nucleotide variant not specified [RCV004245143] Chr5:140823271 [GRCh38]
Chr5:140202856 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1682A>T (p.Asn561Ile) single nucleotide variant not specified [RCV004209256] Chr5:140883950 [GRCh38]
Chr5:140263535 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1741C>T (p.Pro581Ser) single nucleotide variant not specified [RCV004129296] Chr5:140870844 [GRCh38]
Chr5:140250429 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2084A>G (p.Asp695Gly) single nucleotide variant not specified [RCV004163214] Chr5:140850579 [GRCh38]
Chr5:140230164 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1706G>A (p.Arg569Gln) single nucleotide variant not specified [RCV004161766] Chr5:140829797 [GRCh38]
Chr5:140209382 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1555G>T (p.Ala519Ser) single nucleotide variant not specified [RCV004186533] Chr5:140877027 [GRCh38]
Chr5:140256612 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.172G>C (p.Glu58Gln) single nucleotide variant not specified [RCV004162623] Chr5:140848667 [GRCh38]
Chr5:140228252 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1444G>T (p.Ala482Ser) single nucleotide variant not specified [RCV004123206] Chr5:140849939 [GRCh38]
Chr5:140229524 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2212G>T (p.Gly738Cys) single nucleotide variant not specified [RCV004177607] Chr5:140968978 [GRCh38]
Chr5:140348563 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1580A>G (p.Glu527Gly) single nucleotide variant not specified [RCV004194739] Chr5:140842901 [GRCh38]
Chr5:140222486 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1292G>A (p.Arg431Gln) single nucleotide variant not specified [RCV004227471] Chr5:140968058 [GRCh38]
Chr5:140347643 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1795G>A (p.Ala599Thr) single nucleotide variant not specified [RCV004222282] Chr5:140877267 [GRCh38]
Chr5:140256852 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.269T>C (p.Ile90Thr) single nucleotide variant not specified [RCV004159275] Chr5:140875741 [GRCh38]
Chr5:140255326 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2098A>G (p.Ile700Val) single nucleotide variant not specified [RCV004204510] Chr5:140871201 [GRCh38]
Chr5:140250786 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1195A>C (p.Lys399Gln) single nucleotide variant not specified [RCV004137992] Chr5:140967961 [GRCh38]
Chr5:140347546 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2089G>C (p.Val697Leu) single nucleotide variant not specified [RCV004069378] Chr5:140823864 [GRCh38]
Chr5:140203449 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.934A>G (p.Asn312Asp) single nucleotide variant not specified [RCV004109950] Chr5:140870037 [GRCh38]
Chr5:140249622 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2050G>C (p.Gly684Arg) single nucleotide variant not specified [RCV004190868] Chr5:140871153 [GRCh38]
Chr5:140250738 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1688C>T (p.Pro563Leu) single nucleotide variant not specified [RCV004223075] Chr5:140877160 [GRCh38]
Chr5:140256745 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1664T>C (p.Leu555Pro) single nucleotide variant not specified [RCV004182810] Chr5:140823439 [GRCh38]
Chr5:140203024 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1323G>T (p.Leu441Phe) single nucleotide variant not specified [RCV004069156] Chr5:140829414 [GRCh38]
Chr5:140208999 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2203G>T (p.Val735Leu) single nucleotide variant not specified [RCV004231510] Chr5:140836586 [GRCh38]
Chr5:140216171 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1477T>C (p.Ser493Pro) single nucleotide variant not specified [RCV004145899] Chr5:140849972 [GRCh38]
Chr5:140229557 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1534G>A (p.Ala512Thr) single nucleotide variant not specified [RCV004233613] Chr5:140829625 [GRCh38]
Chr5:140209210 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.490G>A (p.Glu164Lys) single nucleotide variant not specified [RCV004181850] Chr5:140807677 [GRCh38]
Chr5:140187262 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1498G>A (p.Gly500Ser) single nucleotide variant not specified [RCV004246714] Chr5:140835881 [GRCh38]
Chr5:140215466 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.535G>A (p.Gly179Ser) single nucleotide variant not specified [RCV004111559] Chr5:140927427 [GRCh38]
Chr5:140307012 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1745G>A (p.Arg582Lys) single nucleotide variant not specified [RCV004168025] Chr5:140823520 [GRCh38]
Chr5:140203105 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1370A>G (p.Gln457Arg) single nucleotide variant not specified [RCV004225552] Chr5:140849865 [GRCh38]
Chr5:140229450 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.119A>T (p.His40Leu) single nucleotide variant not specified [RCV004202620] Chr5:140856167 [GRCh38]
Chr5:140235752 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.572C>T (p.Pro191Leu) single nucleotide variant not specified [RCV004168455] Chr5:140834955 [GRCh38]
Chr5:140214540 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1888G>C (p.Glu630Gln) single nucleotide variant not specified [RCV004111441] Chr5:140884156 [GRCh38]
Chr5:140263741 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1292G>T (p.Gly431Val) single nucleotide variant not specified [RCV004148562] Chr5:140842613 [GRCh38]
Chr5:140222198 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.52C>T (p.Leu18Phe) single nucleotide variant not specified [RCV004079481] Chr5:140807239 [GRCh38]
Chr5:140186824 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1342G>A (p.Val448Met) single nucleotide variant not specified [RCV004079482] Chr5:140849837 [GRCh38]
Chr5:140229422 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.920A>C (p.Glu307Ala) single nucleotide variant not specified [RCV004207465] Chr5:140876392 [GRCh38]
Chr5:140255977 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2043C>G (p.Asn681Lys) single nucleotide variant not specified [RCV004153192] Chr5:140928935 [GRCh38]
Chr5:140308520 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1529A>G (p.His510Arg) single nucleotide variant not specified [RCV004182809] Chr5:140857577 [GRCh38]
Chr5:140237162 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.752T>C (p.Ile251Thr) single nucleotide variant not specified [RCV004168677] Chr5:140828843 [GRCh38]
Chr5:140208428 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.452G>T (p.Arg151Leu) single nucleotide variant not specified [RCV004084941] Chr5:140848947 [GRCh38]
Chr5:140228532 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2189G>A (p.Gly730Asp) single nucleotide variant not specified [RCV004165873] Chr5:140836572 [GRCh38]
Chr5:140216157 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.712A>T (p.Asn238Tyr) single nucleotide variant not specified [RCV004077060] Chr5:140882980 [GRCh38]
Chr5:140262565 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1222A>C (p.Ile408Leu) single nucleotide variant not specified [RCV004230358] Chr5:140928114 [GRCh38]
Chr5:140307699 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2252G>A (p.Arg751Lys) single nucleotide variant not specified [RCV004202021] Chr5:140969018 [GRCh38]
Chr5:140348603 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.185G>T (p.Arg62Leu) single nucleotide variant not specified [RCV004184325] Chr5:140848680 [GRCh38]
Chr5:140228265 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1061C>T (p.Ser354Phe) single nucleotide variant not specified [RCV004179093] Chr5:140829152 [GRCh38]
Chr5:140208737 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.757G>A (p.Glu253Lys) single nucleotide variant not specified [RCV004167432] Chr5:140883025 [GRCh38]
Chr5:140262610 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1925C>T (p.Pro642Leu) single nucleotide variant not specified [RCV004225549] Chr5:140823700 [GRCh38]
Chr5:140203285 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1447G>T (p.Ala483Ser) single nucleotide variant not specified [RCV004212676] Chr5:140870550 [GRCh38]
Chr5:140250135 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.2164C>T (p.Arg722Trp) single nucleotide variant not specified [RCV004245128] Chr5:140850659 [GRCh38]
Chr5:140230244 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1517C>T (p.Ala506Val) single nucleotide variant not specified [RCV004097033] Chr5:140928409 [GRCh38]
Chr5:140307994 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1964A>T (p.Glu655Val) single nucleotide variant not specified [RCV004086985] Chr5:140858012 [GRCh38]
Chr5:140237597 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2288G>C (p.Gly763Ala) single nucleotide variant not specified [RCV004213390] Chr5:140843609 [GRCh38]
Chr5:140223194 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1217C>T (p.Ser406Leu) single nucleotide variant not specified [RCV004127191] Chr5:140849712 [GRCh38]
Chr5:140229297 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2075C>A (p.Ala692Glu) single nucleotide variant not specified [RCV004232261] Chr5:140843396 [GRCh38]
Chr5:140222981 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1511T>A (p.Leu504Gln) single nucleotide variant not specified [RCV004093524] Chr5:140850006 [GRCh38]
Chr5:140229591 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1895C>G (p.Thr632Arg) single nucleotide variant not specified [RCV004225408] Chr5:140870998 [GRCh38]
Chr5:140250583 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1952T>G (p.Val651Gly) single nucleotide variant not specified [RCV004106948] Chr5:140884220 [GRCh38]
Chr5:140263805 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1882A>T (p.Thr628Ser) single nucleotide variant not specified [RCV004107109] Chr5:140843203 [GRCh38]
Chr5:140222788 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.790C>G (p.Pro264Ala) single nucleotide variant not specified [RCV004145016] Chr5:140849285 [GRCh38]
Chr5:140228870 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1895G>C (p.Ser632Thr) single nucleotide variant not specified [RCV004205135] Chr5:140877367 [GRCh38]
Chr5:140256952 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.753A>G (p.Ile251Met) single nucleotide variant not specified [RCV004176661] Chr5:140828844 [GRCh38]
Chr5:140208429 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2269G>A (p.Val757Met) single nucleotide variant not specified [RCV004129509] Chr5:140871372 [GRCh38]
Chr5:140250957 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.56T>C (p.Leu19Pro) single nucleotide variant not specified [RCV004199835] Chr5:140841377 [GRCh38]
Chr5:140220962 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.893A>T (p.Asn298Ile) single nucleotide variant not specified [RCV004166568] Chr5:140828984 [GRCh38]
Chr5:140208569 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.492C>G (p.Ser164Arg) single nucleotide variant not specified [RCV004069301] Chr5:140927384 [GRCh38]
Chr5:140306969 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1711G>A (p.Gly571Ser) single nucleotide variant not specified [RCV004245388] Chr5:140836094 [GRCh38]
Chr5:140215679 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1129C>A (p.Arg377Ser) single nucleotide variant not specified [RCV004201171] Chr5:140876601 [GRCh38]
Chr5:140256186 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1928G>A (p.Arg643His) single nucleotide variant not specified [RCV004107964] Chr5:140871031 [GRCh38]
Chr5:140250616 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1544G>T (p.Gly515Val) single nucleotide variant not specified [RCV004216743] Chr5:140877016 [GRCh38]
Chr5:140256601 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1213T>C (p.Ser405Pro) single nucleotide variant not specified [RCV004197644] Chr5:140857261 [GRCh38]
Chr5:140236846 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1406C>A (p.Pro469Gln) single nucleotide variant not specified [RCV004089717] Chr5:140883674 [GRCh38]
Chr5:140263259 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1855C>T (p.Arg619Cys) single nucleotide variant not specified [RCV004146570] Chr5:140829946 [GRCh38]
Chr5:140209531 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1319G>C (p.Arg440Thr) single nucleotide variant not specified [RCV004237067] Chr5:140876791 [GRCh38]
Chr5:140256376 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.762C>G (p.Asn254Lys) single nucleotide variant not specified [RCV004096113] Chr5:140883030 [GRCh38]
Chr5:140262615 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.805C>G (p.Pro269Ala) single nucleotide variant not specified [RCV004092403] Chr5:140876277 [GRCh38]
Chr5:140255862 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.551A>G (p.Lys184Arg) single nucleotide variant not specified [RCV004171118] Chr5:140856599 [GRCh38]
Chr5:140236184 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1396G>A (p.Glu466Lys) single nucleotide variant not specified [RCV004183303] Chr5:140883664 [GRCh38]
Chr5:140263249 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.496T>G (p.Ser166Ala) single nucleotide variant not specified [RCV004125632] Chr5:140841817 [GRCh38]
Chr5:140221402 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.1000T>C (p.Cys334Arg) single nucleotide variant not specified [RCV004169438] Chr5:140883268 [GRCh38]
Chr5:140262853 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.913T>C (p.Tyr305His) single nucleotide variant not specified [RCV004179514] Chr5:140876385 [GRCh38]
Chr5:140255970 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1501C>A (p.Arg501Ser) single nucleotide variant not specified [RCV004108108] Chr5:140870604 [GRCh38]
Chr5:140250189 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1818G>C (p.Trp606Cys) single nucleotide variant not specified [RCV004138094] Chr5:140829909 [GRCh38]
Chr5:140209494 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.497C>T (p.Ala166Val) single nucleotide variant not specified [RCV004092186] Chr5:140848992 [GRCh38]
Chr5:140228577 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.598G>A (p.Asp200Asn) single nucleotide variant not specified [RCV004142486] Chr5:140822373 [GRCh38]
Chr5:140201958 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1703G>A (p.Arg568Gln) single nucleotide variant not specified [RCV004199279] Chr5:140823478 [GRCh38]
Chr5:140203063 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1649A>G (p.Asp550Gly) single nucleotide variant not specified [RCV004158258] Chr5:140928541 [GRCh38]
Chr5:140308126 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.460C>A (p.Leu154Ile) single nucleotide variant not specified [RCV004112731] Chr5:140875932 [GRCh38]
Chr5:140255517 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.122G>C (p.Gly41Ala) single nucleotide variant not specified [RCV004199597] Chr5:140821897 [GRCh38]
Chr5:140201482 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2192C>G (p.Ala731Gly) single nucleotide variant not specified [RCV004120532] Chr5:140884460 [GRCh38]
Chr5:140264045 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1495G>T (p.Val499Leu) single nucleotide variant not specified [RCV004210139] Chr5:140835878 [GRCh38]
Chr5:140215463 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.973A>G (p.Lys325Glu) single nucleotide variant not specified [RCV004209063] Chr5:140927865 [GRCh38]
Chr5:140307450 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.290G>A (p.Gly97Glu) single nucleotide variant not specified [RCV004157285] Chr5:140841611 [GRCh38]
Chr5:140221196 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.2308A>C (p.Met770Leu) single nucleotide variant not specified [RCV004144336] Chr5:140830399 [GRCh38]
Chr5:140209984 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2295G>T (p.Lys765Asn) single nucleotide variant not specified [RCV004163058] Chr5:140871398 [GRCh38]
Chr5:140250983 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.187G>C (p.Glu63Gln) single nucleotide variant not specified [RCV004227102] Chr5:140927079 [GRCh38]
Chr5:140306664 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1292G>A (p.Gly431Asp) single nucleotide variant not specified [RCV004140129] Chr5:140883560 [GRCh38]
Chr5:140263145 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2236A>G (p.Thr746Ala) single nucleotide variant not specified [RCV004079894] Chr5:140929128 [GRCh38]
Chr5:140308713 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2044C>G (p.Gln682Glu) single nucleotide variant not specified [RCV004168961] Chr5:140843365 [GRCh38]
Chr5:140222950 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.778A>G (p.Thr260Ala) single nucleotide variant not specified [RCV004122050] Chr5:140828869 [GRCh38]
Chr5:140208454 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1166C>T (p.Thr389Met) single nucleotide variant not specified [RCV004118529] Chr5:140870269 [GRCh38]
Chr5:140249854 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1846A>G (p.Ser616Gly) single nucleotide variant not specified [RCV004154707] Chr5:140823621 [GRCh38]
Chr5:140203206 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.821A>G (p.Asn274Ser) single nucleotide variant not specified [RCV004110450] Chr5:140876293 [GRCh38]
Chr5:140255878 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1865G>A (p.Arg622His) single nucleotide variant not specified [RCV004069589] Chr5:140870968 [GRCh38]
Chr5:140250553 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.401C>G (p.Pro134Arg) single nucleotide variant not specified [RCV004110286] Chr5:140828492 [GRCh38]
Chr5:140208077 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1188G>T (p.Lys396Asn) single nucleotide variant not specified [RCV004121012] Chr5:140835571 [GRCh38]
Chr5:140215156 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.283C>G (p.Leu95Val) single nucleotide variant not specified [RCV004150101] Chr5:140834666 [GRCh38]
Chr5:140214251 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.857A>C (p.Glu286Ala) single nucleotide variant not specified [RCV004186387] Chr5:140842178 [GRCh38]
Chr5:140221763 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018911.3(PCDHA8):c.859A>G (p.Thr287Ala) single nucleotide variant not specified [RCV004186388] Chr5:140842180 [GRCh38]
Chr5:140221765 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1248G>C (p.Glu416Asp) single nucleotide variant not specified [RCV004155481] Chr5:140849743 [GRCh38]
Chr5:140229328 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.406G>A (p.Val136Met) single nucleotide variant not specified [RCV004142375] Chr5:140967172 [GRCh38]
Chr5:140346757 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1579G>A (p.Glu527Lys) single nucleotide variant not specified [RCV004125722] Chr5:140842900 [GRCh38]
Chr5:140222485 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.2242T>G (p.Trp748Gly) single nucleotide variant not specified [RCV004099293] Chr5:140877714 [GRCh38]
Chr5:140257299 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1306T>C (p.Trp436Arg) single nucleotide variant not specified [RCV004168302] Chr5:140835689 [GRCh38]
Chr5:140215274 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.575T>C (p.Ile192Thr) single nucleotide variant not specified [RCV004069637] Chr5:140828666 [GRCh38]
Chr5:140208251 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.2209C>T (p.Pro737Ser) single nucleotide variant not specified [RCV004092370] Chr5:140809396 [GRCh38]
Chr5:140188981 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1067T>G (p.Val356Gly) single nucleotide variant not specified [RCV004177039] Chr5:140967833 [GRCh38]
Chr5:140347418 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1565C>T (p.Pro522Leu) single nucleotide variant not specified [RCV004121961] Chr5:140877037 [GRCh38]
Chr5:140256622 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1705G>A (p.Ala569Thr) single nucleotide variant not specified [RCV004210057] Chr5:140870808 [GRCh38]
Chr5:140250393 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2221A>T (p.Ser741Cys) single nucleotide variant not specified [RCV004228210] Chr5:140858269 [GRCh38]
Chr5:140237854 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1708G>C (p.Ala570Pro) single nucleotide variant not specified [RCV004083778] Chr5:140808895 [GRCh38]
Chr5:140188480 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.2093T>C (p.Val698Ala) single nucleotide variant not specified [RCV004140126] Chr5:140877565 [GRCh38]
Chr5:140257150 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1784G>A (p.Arg595His) single nucleotide variant not specified [RCV004174771] Chr5:140829875 [GRCh38]
Chr5:140209460 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1522G>A (p.Val508Met) single nucleotide variant not specified [RCV004179615] Chr5:140876994 [GRCh38]
Chr5:140256579 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1748T>C (p.Val583Ala) single nucleotide variant not specified [RCV004124384] Chr5:140928640 [GRCh38]
Chr5:140308225 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.333C>A (p.Asp111Glu) single nucleotide variant not specified [RCV004090626] Chr5:140828424 [GRCh38]
Chr5:140208009 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1589G>C (p.Ser530Thr) single nucleotide variant not specified [RCV004179424] Chr5:140968355 [GRCh38]
Chr5:140347940 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.116C>A (p.Ala39Asp) single nucleotide variant not specified [RCV004145267] Chr5:140828207 [GRCh38]
Chr5:140207792 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1230C>A (p.Asp410Glu) single nucleotide variant not specified [RCV004092402] Chr5:140876702 [GRCh38]
Chr5:140256287 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.941A>G (p.Asp314Gly) single nucleotide variant not specified [RCV004099569] Chr5:140927833 [GRCh38]
Chr5:140307418 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1414T>C (p.Cys472Arg) single nucleotide variant not specified [RCV004112357] Chr5:140829505 [GRCh38]
Chr5:140209090 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.658C>T (p.Pro220Ser) single nucleotide variant not specified [RCV004209180] Chr5:140807845 [GRCh38]
Chr5:140187430 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1549T>C (p.Tyr517His) single nucleotide variant not specified [RCV004136485] Chr5:140823324 [GRCh38]
Chr5:140202909 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.485G>T (p.Gly162Val) single nucleotide variant not specified [RCV004098632] Chr5:140856533 [GRCh38]
Chr5:140236118 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.320A>T (p.Glu107Val) single nucleotide variant not specified [RCV004218062] Chr5:140841641 [GRCh38]
Chr5:140221226 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.256G>A (p.Val86Met) single nucleotide variant not specified [RCV004218229] Chr5:140841577 [GRCh38]
Chr5:140221162 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.982C>G (p.Pro328Ala) single nucleotide variant not specified [RCV004074655] Chr5:140822757 [GRCh38]
Chr5:140202342 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.700G>A (p.Asp234Asn) single nucleotide variant not specified [RCV004075029] Chr5:140849195 [GRCh38]
Chr5:140228780 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1514C>G (p.Ser505Trp) single nucleotide variant not specified [RCV004219545] Chr5:140842835 [GRCh38]
Chr5:140222420 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1715G>A (p.Gly572Asp) single nucleotide variant not specified [RCV004221878] Chr5:140850210 [GRCh38]
Chr5:140229795 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.4G>A (p.Val2Met) single nucleotide variant not specified [RCV004232969] Chr5:140834387 [GRCh38]
Chr5:140213972 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1637G>A (p.Gly546Asp) single nucleotide variant not specified [RCV004176197] Chr5:140877109 [GRCh38]
Chr5:140256694 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2039C>G (p.Ser680Trp) single nucleotide variant not specified [RCV004176198] Chr5:140836422 [GRCh38]
Chr5:140216007 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1165G>T (p.Ala389Ser) single nucleotide variant not specified [RCV004180455] Chr5:140928057 [GRCh38]
Chr5:140307642 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1708G>A (p.Val570Met) single nucleotide variant not specified [RCV004087189] Chr5:140843029 [GRCh38]
Chr5:140222614 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.622A>G (p.Ile208Val) single nucleotide variant not specified [RCV004077643] Chr5:140807809 [GRCh38]
Chr5:140187394 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1608C>A (p.Ser536Arg) single nucleotide variant not specified [RCV004074656] Chr5:140850103 [GRCh38]
Chr5:140229688 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1921G>A (p.Asp641Asn) single nucleotide variant not specified [RCV004221128] Chr5:140850416 [GRCh38]
Chr5:140230001 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.962C>T (p.Ala321Val) single nucleotide variant not specified [RCV004094989] Chr5:140822737 [GRCh38]
Chr5:140202322 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1250G>A (p.Ser417Asn) single nucleotide variant not specified [RCV004224477] Chr5:140876722 [GRCh38]
Chr5:140256307 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1438C>T (p.Arg480Trp) single nucleotide variant not specified [RCV004081856] Chr5:140849933 [GRCh38]
Chr5:140229518 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1234G>T (p.Ala412Ser) single nucleotide variant not specified [RCV004176271] Chr5:140842555 [GRCh38]
Chr5:140222140 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1349C>T (p.Thr450Ile) single nucleotide variant not specified [RCV004216881] Chr5:140968115 [GRCh38]
Chr5:140347700 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1449C>A (p.Asp483Glu) single nucleotide variant not specified [RCV004094456] Chr5:140849944 [GRCh38]
Chr5:140229529 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.358A>G (p.Asn120Asp) single nucleotide variant not specified [RCV004330006] Chr5:140869461 [GRCh38]
Chr5:140249046 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.445G>A (p.Asp149Asn) single nucleotide variant not specified [RCV004307913] Chr5:140848940 [GRCh38]
Chr5:140228525 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1500C>G (p.Asp500Glu) single nucleotide variant not specified [RCV004312466] Chr5:140870603 [GRCh38]
Chr5:140250188 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.1546A>C (p.Lys516Gln) single nucleotide variant not specified [RCV004312481] Chr5:140883814 [GRCh38]
Chr5:140263399 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1508C>T (p.Ser503Leu) single nucleotide variant not specified [RCV004249787] Chr5:140850003 [GRCh38]
Chr5:140229588 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2276C>T (p.Ser759Phe) single nucleotide variant not specified [RCV004275464] Chr5:140871379 [GRCh38]
Chr5:140250964 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1231G>T (p.Ala411Ser) single nucleotide variant not specified [RCV004264549] Chr5:140857279 [GRCh38]
Chr5:140236864 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1999T>A (p.Phe667Ile) single nucleotide variant not specified [RCV004284691] Chr5:140928891 [GRCh38]
Chr5:140308476 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2023G>C (p.Ala675Pro) single nucleotide variant not specified [RCV004264720] Chr5:140843344 [GRCh38]
Chr5:140222929 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.853C>T (p.Leu285Phe) single nucleotide variant not specified [RCV004271216] Chr5:140822628 [GRCh38]
Chr5:140202213 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2090A>T (p.Tyr697Phe) single nucleotide variant not specified [RCV004259261] Chr5:140858138 [GRCh38]
Chr5:140237723 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.263C>G (p.Ser88Cys) single nucleotide variant not specified [RCV004248339] Chr5:140875735 [GRCh38]
Chr5:140255320 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1372T>C (p.Ser458Pro) single nucleotide variant not specified [RCV004260442] Chr5:140849867 [GRCh38]
Chr5:140229452 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1853C>T (p.Ala618Val) single nucleotide variant not specified [RCV004267880] Chr5:140877325 [GRCh38]
Chr5:140256910 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1882A>G (p.Thr628Ala) single nucleotide variant not specified [RCV004276747] Chr5:140809069 [GRCh38]
Chr5:140188654 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.510A>T (p.Lys170Asn) single nucleotide variant not specified [RCV004273732] Chr5:140856558 [GRCh38]
Chr5:140236143 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.776A>G (p.Gln259Arg) single nucleotide variant not specified [RCV004281105] Chr5:140967542 [GRCh38]
Chr5:140347127 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2233G>A (p.Gly745Arg) single nucleotide variant not specified [RCV004271330] Chr5:140871336 [GRCh38]
Chr5:140250921 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1970C>T (p.Pro657Leu) single nucleotide variant not specified [RCV004284860] Chr5:140823745 [GRCh38]
Chr5:140203330 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2072C>A (p.Ala691Glu) single nucleotide variant not specified [RCV004251488] Chr5:140843393 [GRCh38]
Chr5:140222978 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1885G>A (p.Glu629Lys) single nucleotide variant not specified [RCV004276456] Chr5:140870988 [GRCh38]
Chr5:140250573 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2165G>T (p.Trp722Leu) single nucleotide variant not specified [RCV004253348] Chr5:140871268 [GRCh38]
Chr5:140250853 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.517A>G (p.Met173Val) single nucleotide variant not specified [RCV004276413] Chr5:140927409 [GRCh38]
Chr5:140306994 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2306C>A (p.Ala769Asp) single nucleotide variant not specified [RCV004259655] Chr5:140858354 [GRCh38]
Chr5:140237939 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.125C>A (p.Thr42Asn) single nucleotide variant not specified [RCV004271791] Chr5:140821900 [GRCh38]
Chr5:140201485 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1337C>G (p.Ala446Gly) single nucleotide variant not specified [RCV004271792] Chr5:140849832 [GRCh38]
Chr5:140229417 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1688C>T (p.Pro563Leu) single nucleotide variant not specified [RCV004271885] Chr5:140836071 [GRCh38]
Chr5:140215656 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.630A>C (p.Leu210Phe) single nucleotide variant not specified [RCV004252255] Chr5:140807817 [GRCh38]
Chr5:140187402 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1964G>A (p.Gly655Asp) single nucleotide variant not specified [RCV004275232] Chr5:140809151 [GRCh38]
Chr5:140188736 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2075A>T (p.Glu692Val) single nucleotide variant not specified [RCV004286812] Chr5:140836458 [GRCh38]
Chr5:140216043 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1778T>C (p.Val593Ala) single nucleotide variant not specified [RCV004275771] Chr5:140823553 [GRCh38]
Chr5:140203138 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1781G>C (p.Arg594Pro) single nucleotide variant not specified [RCV004281052] Chr5:140823556 [GRCh38]
Chr5:140203141 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1384G>A (p.Val462Met) single nucleotide variant not specified [RCV004273981] Chr5:140835767 [GRCh38]
Chr5:140215352 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1671C>G (p.Asp557Glu) single nucleotide variant not specified [RCV004259262] Chr5:140842992 [GRCh38]
Chr5:140222577 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.278A>T (p.Glu93Val) single nucleotide variant not specified [RCV004251740] Chr5:140848773 [GRCh38]
Chr5:140228358 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1633G>A (p.Gly545Ser) single nucleotide variant not specified [RCV004254526] Chr5:140823408 [GRCh38]
Chr5:140202993 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2018C>G (p.Pro673Arg) single nucleotide variant not specified [RCV004280365] Chr5:140928910 [GRCh38]
Chr5:140308495 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1674C>G (p.Asn558Lys) single nucleotide variant not specified [RCV004252129] Chr5:140857722 [GRCh38]
Chr5:140237307 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.668C>T (p.Thr223Ile) single nucleotide variant not specified [RCV004273733] Chr5:140849163 [GRCh38]
Chr5:140228748 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.272G>T (p.Arg91Leu) single nucleotide variant not specified [RCV004267239] Chr5:140856320 [GRCh38]
Chr5:140235905 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1866C>A (p.Phe622Leu) single nucleotide variant not specified [RCV004276746] Chr5:140809053 [GRCh38]
Chr5:140188638 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.533T>G (p.Phe178Cys) single nucleotide variant not specified [RCV004269957] Chr5:140849028 [GRCh38]
Chr5:140228613 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1114A>G (p.Ser372Gly) single nucleotide variant not specified [RCV004267947] Chr5:140870217 [GRCh38]
Chr5:140249802 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1277C>G (p.Thr426Ser) single nucleotide variant not specified [RCV004333812] Chr5:140883545 [GRCh38]
Chr5:140263130 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1318A>C (p.Ser440Arg) single nucleotide variant not specified [RCV004333813] Chr5:140883586 [GRCh38]
Chr5:140263171 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1361C>T (p.Ala454Val) single nucleotide variant not specified [RCV004333815] Chr5:140883629 [GRCh38]
Chr5:140263214 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1440G>C (p.Gln480His) single nucleotide variant not specified [RCV004333818] Chr5:140883708 [GRCh38]
Chr5:140263293 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1352A>G (p.Asn451Ser) single nucleotide variant not specified [RCV004312903] Chr5:140829443 [GRCh38]
Chr5:140209028 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.151G>A (p.Asp51Asn) single nucleotide variant not specified [RCV004274626] Chr5:140882419 [GRCh38]
Chr5:140262004 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1504C>T (p.Arg502Cys) single nucleotide variant not specified [RCV004249973] Chr5:140808691 [GRCh38]
Chr5:140188276 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1079G>T (p.Arg360Leu) single nucleotide variant not specified [RCV004264342] Chr5:140829170 [GRCh38]
Chr5:140208755 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.221T>C (p.Leu74Pro) single nucleotide variant not specified [RCV004248335] Chr5:140856269 [GRCh38]
Chr5:140235854 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2090A>G (p.Asn697Ser) single nucleotide variant not specified [RCV004270472] Chr5:140884358 [GRCh38]
Chr5:140263943 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1780G>A (p.Val594Met) single nucleotide variant not specified [RCV004326710] Chr5:140829871 [GRCh38]
Chr5:140209456 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.702T>A (p.Asp234Glu) single nucleotide variant not specified [RCV004277858] Chr5:140807889 [GRCh38]
Chr5:140187474 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1123G>C (p.Val375Leu) single nucleotide variant not specified [RCV004279858] Chr5:140928015 [GRCh38]
Chr5:140307600 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1288G>A (p.Gly430Ser) single nucleotide variant not specified [RCV004273859] Chr5:140870391 [GRCh38]
Chr5:140249976 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1504C>T (p.Pro502Ser) single nucleotide variant not specified [RCV004274268] Chr5:140823279 [GRCh38]
Chr5:140202864 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1984G>A (p.Ala662Thr) single nucleotide variant not specified [RCV004280831] Chr5:140858032 [GRCh38]
Chr5:140237617 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1750T>C (p.Ser584Pro) single nucleotide variant not specified [RCV004248813] Chr5:140877222 [GRCh38]
Chr5:140256807 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1844G>A (p.Gly615Asp) single nucleotide variant not specified [RCV004281003] Chr5:140870947 [GRCh38]
Chr5:140250532 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1253C>T (p.Ser418Leu) single nucleotide variant not specified [RCV004287381] Chr5:140823028 [GRCh38]
Chr5:140202613 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.857C>A (p.Ala286Glu) single nucleotide variant not specified [RCV004252878] Chr5:140828948 [GRCh38]
Chr5:140208533 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2248T>A (p.Ser750Thr) single nucleotide variant not specified [RCV004271650] Chr5:140824023 [GRCh38]
Chr5:140203608 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1189C>A (p.Leu397Met) single nucleotide variant not specified [RCV004277567] Chr5:140883457 [GRCh38]
Chr5:140263042 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1190T>G (p.Leu397Arg) single nucleotide variant not specified [RCV004277568] Chr5:140883458 [GRCh38]
Chr5:140263043 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1685C>A (p.Ala562Glu) single nucleotide variant not specified [RCV004277943] Chr5:140829776 [GRCh38]
Chr5:140209361 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1405C>G (p.Pro469Ala) single nucleotide variant not specified [RCV004333816] Chr5:140883673 [GRCh38]
Chr5:140263258 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1180T>G (p.Phe394Val) single nucleotide variant not specified [RCV004323469] Chr5:140822955 [GRCh38]
Chr5:140202540 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2048C>G (p.Ser683Trp) single nucleotide variant not specified [RCV004320427] Chr5:140884316 [GRCh38]
Chr5:140263901 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2288G>A (p.Gly763Glu) single nucleotide variant not specified [RCV004321062] Chr5:140843609 [GRCh38]
Chr5:140223194 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1628C>G (p.Pro543Arg) single nucleotide variant not specified [RCV004332507] Chr5:140850123 [GRCh38]
Chr5:140229708 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1457A>G (p.Glu486Gly) single nucleotide variant not specified [RCV004325708] Chr5:140842778 [GRCh38]
Chr5:140222363 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1649C>T (p.Thr550Met) single nucleotide variant not specified [RCV004347697] Chr5:140850144 [GRCh38]
Chr5:140229729 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1734C>G (p.Ser578Arg) single nucleotide variant not specified [RCV004335235] Chr5:140850229 [GRCh38]
Chr5:140229814 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2296G>A (p.Asp766Asn) single nucleotide variant not specified [RCV004335234] Chr5:140858344 [GRCh38]
Chr5:140237929 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1813T>A (p.Trp605Arg) single nucleotide variant not specified [RCV004353219] Chr5:140857861 [GRCh38]
Chr5:140237446 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.2171C>G (p.Ser724Trp) single nucleotide variant not specified [RCV004341952] Chr5:140830262 [GRCh38]
Chr5:140209847 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1915C>T (p.Arg639Trp) single nucleotide variant not specified [RCV004346642] Chr5:140928807 [GRCh38]
Chr5:140308392 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1067G>A (p.Gly356Asp) single nucleotide variant not specified [RCV004348696] Chr5:140927959 [GRCh38]
Chr5:140307544 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1685C>T (p.Pro562Leu) single nucleotide variant not specified [RCV004355324] Chr5:140823460 [GRCh38]
Chr5:140203045 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1259C>G (p.Ala420Gly) single nucleotide variant not specified [RCV004351157] Chr5:140842580 [GRCh38]
Chr5:140222165 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1993C>T (p.Leu665Phe) single nucleotide variant not specified [RCV004350676] Chr5:140858041 [GRCh38]
Chr5:140237626 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.2090A>G (p.Asn697Ser) single nucleotide variant not specified [RCV004342069] Chr5:140830181 [GRCh38]
Chr5:140209766 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1923C>G (p.Asp641Glu) single nucleotide variant not specified [RCV004340280] Chr5:140843244 [GRCh38]
Chr5:140222829 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1415G>C (p.Cys472Ser) single nucleotide variant not specified [RCV004356795] Chr5:140835798 [GRCh38]
Chr5:140215383 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.604G>A (p.Val202Met) single nucleotide variant not specified [RCV004352820] Chr5:140927496 [GRCh38]
Chr5:140307081 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.286T>G (p.Cys96Gly) single nucleotide variant not specified [RCV004353799] Chr5:140882554 [GRCh38]
Chr5:140262139 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.856G>A (p.Val286Met) single nucleotide variant not specified [RCV004345541] Chr5:140927748 [GRCh38]
Chr5:140307333 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.2018G>A (p.Gly673Asp) single nucleotide variant not specified [RCV004346480] Chr5:140830109 [GRCh38]
Chr5:140209694 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.848T>C (p.Leu283Ser) single nucleotide variant not specified [RCV004361733] Chr5:140856896 [GRCh38]
Chr5:140236481 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1730C>T (p.Ala577Val) single nucleotide variant not specified [RCV004359685] Chr5:140843051 [GRCh38]
Chr5:140222636 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.140G>C (p.Arg47Pro) single nucleotide variant not specified [RCV004357948] Chr5:140882408 [GRCh38]
Chr5:140261993 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1582A>G (p.Ser528Gly) single nucleotide variant not specified [RCV004357320] Chr5:140968348 [GRCh38]
Chr5:140347933 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1214C>G (p.Ser405Trp) single nucleotide variant not specified [RCV004339030] Chr5:140870317 [GRCh38]
Chr5:140249902 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.955C>T (p.Pro319Ser) single nucleotide variant not specified [RCV004355931] Chr5:140835338 [GRCh38]
Chr5:140214923 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.719C>T (p.Pro240Leu) single nucleotide variant not specified [RCV004351156] Chr5:140882987 [GRCh38]
Chr5:140262572 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1195A>T (p.Ile399Phe) single nucleotide variant not specified [RCV004354178] Chr5:140928087 [GRCh38]
Chr5:140307672 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1289G>A (p.Gly430Glu) single nucleotide variant not specified [RCV004357438] Chr5:140849784 [GRCh38]
Chr5:140229369 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1663G>A (p.Val555Met) single nucleotide variant not specified [RCV004340424] Chr5:140842984 [GRCh38]
Chr5:140222569 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1664T>G (p.Val555Gly) single nucleotide variant not specified [RCV004352191] Chr5:140877136 [GRCh38]
Chr5:140256721 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2162G>T (p.Cys721Phe) single nucleotide variant not specified [RCV004352450] Chr5:140858210 [GRCh38]
Chr5:140237795 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1637G>A (p.Gly546Asp) single nucleotide variant not specified [RCV004353072] Chr5:140842958 [GRCh38]
Chr5:140222543 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1070C>T (p.Pro357Leu) single nucleotide variant not specified [RCV004360735] Chr5:140857118 [GRCh38]
Chr5:140236703 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.332A>T (p.Glu111Val) single nucleotide variant not specified [RCV004361250] Chr5:140834715 [GRCh38]
Chr5:140214300 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1193T>C (p.Val398Ala) single nucleotide variant not specified [RCV004345586] Chr5:140876665 [GRCh38]
Chr5:140256250 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1444G>A (p.Ala482Thr) single nucleotide variant not specified [RCV004342830] Chr5:140883712 [GRCh38]
Chr5:140263297 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1700A>C (p.Glu567Ala) single nucleotide variant not specified [RCV004338338] Chr5:140843021 [GRCh38]
Chr5:140222606 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018908.3(PCDHA5):c.1447G>A (p.Ala483Thr) single nucleotide variant not specified [RCV004338987] Chr5:140823222 [GRCh38]
Chr5:140202807 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1205A>G (p.Lys402Arg) single nucleotide variant not specified [RCV004360480] Chr5:140849700 [GRCh38]
Chr5:140229285 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.849G>T (p.Arg283Ser) single nucleotide variant not specified [RCV004361988] Chr5:140883117 [GRCh38]
Chr5:140262702 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.211G>T (p.Gly71Trp) single nucleotide variant not specified [RCV004336120] Chr5:140856259 [GRCh38]
Chr5:140235844 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2134G>T (p.Val712Leu) single nucleotide variant not specified [RCV004349716] Chr5:140884402 [GRCh38]
Chr5:140263987 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1528G>A (p.Val510Met) single nucleotide variant not specified [RCV004349717] Chr5:140829619 [GRCh38]
Chr5:140209204 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2306T>C (p.Met769Thr) single nucleotide variant not specified [RCV004356599] Chr5:140871409 [GRCh38]
Chr5:140250994 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1010T>C (p.Leu337Ser) single nucleotide variant not specified [RCV004351650] Chr5:140883278 [GRCh38]
Chr5:140262863 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.506A>G (p.Tyr169Cys) single nucleotide variant not specified [RCV004343269] Chr5:140822281 [GRCh38]
Chr5:140201866 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1490G>T (p.Arg497Leu) single nucleotide variant not specified [RCV004354142] Chr5:140808677 [GRCh38]
Chr5:140188262 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.275G>T (p.Arg92Leu) single nucleotide variant not specified [RCV004339324] Chr5:140841596 [GRCh38]
Chr5:140221181 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.989T>C (p.Val330Ala) single nucleotide variant not specified [RCV004343426] Chr5:140927881 [GRCh38]
Chr5:140307466 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.995A>G (p.His332Arg) single nucleotide variant not specified [RCV004362921] Chr5:140870098 [GRCh38]
Chr5:140249683 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2036C>G (p.Ser679Trp) single nucleotide variant not specified [RCV004341529] Chr5:140836419 [GRCh38]
Chr5:140216004 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.182C>A (p.Pro61Gln) single nucleotide variant not specified [RCV004361811] Chr5:140882450 [GRCh38]
Chr5:140262035 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2141C>G (p.Thr714Arg) single nucleotide variant not specified [RCV004361812] Chr5:140884409 [GRCh38]
Chr5:140263994 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1796C>T (p.Ala599Val) single nucleotide variant not specified [RCV004365024] Chr5:140829887 [GRCh38]
Chr5:140209472 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.274C>A (p.Arg92Ser) single nucleotide variant not specified [RCV004339932] Chr5:140834657 [GRCh38]
Chr5:140214242 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.145G>T (p.Ala49Ser) single nucleotide variant not specified [RCV004366151] Chr5:140875617 [GRCh38]
Chr5:140255202 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.154G>A (p.Gly52Arg) single nucleotide variant not specified [RCV004336797] Chr5:140856202 [GRCh38]
Chr5:140235787 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.653G>A (p.Gly218Glu) single nucleotide variant not specified [RCV004339408] Chr5:140869756 [GRCh38]
Chr5:140249341 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1735T>G (p.Leu579Val) single nucleotide variant not specified [RCV004348992] Chr5:140928627 [GRCh38]
Chr5:140308212 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1771G>T (p.Gly591Cys) single nucleotide variant not specified [RCV004363807] Chr5:140928663 [GRCh38]
Chr5:140308248 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.850C>G (p.Pro284Ala) single nucleotide variant not specified [RCV004352119] Chr5:140883118 [GRCh38]
Chr5:140262703 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1955A>G (p.Lys652Arg) single nucleotide variant not specified [RCV004359008] Chr5:140884223 [GRCh38]
Chr5:140263808 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.708T>C (p.Asn236=) single nucleotide variant not provided [RCV003429785] Chr5:140828799 [GRCh38]
Chr5:140208384 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018908.3(PCDHA5):c.2352+6321C>T single nucleotide variant not provided [RCV003429787] Chr5:140830448 [GRCh38]
Chr5:140210033 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2385+39616G>A single nucleotide variant not provided [RCV003429798] Chr5:140849188 [GRCh38]
Chr5:140228773 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2385+53642A>G single nucleotide variant not provided [RCV003429807] Chr5:140863214 [GRCh38]
Chr5:140242799 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.2391+12410G>A single nucleotide variant not provided [RCV003429816] Chr5:140883904 [GRCh38]
Chr5:140263489 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.417C>T (p.Asn139=) single nucleotide variant not provided [RCV003436474] Chr5:140807604 [GRCh38]
Chr5:140187189 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018911.3(PCDHA8):c.4G>A (p.Asp2Asn) single nucleotide variant not provided [RCV003428622] Chr5:140841325 [GRCh38]
Chr5:140220910 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018900.4(PCDHA1):c.2394+59913C>G single nucleotide variant PCDHA9-related disorder [RCV003929144]|not provided [RCV003428623] Chr5:140848597 [GRCh38]
Chr5:140228182 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.1937G>T (p.Arg646Leu) single nucleotide variant not provided [RCV003428618] Chr5:140809124 [GRCh38]
Chr5:140188709 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2268G>A (p.Pro756=) single nucleotide variant not provided [RCV003428619] Chr5:140809455 [GRCh38]
Chr5:140189040 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2046G>T (p.Ala682=) single nucleotide variant not provided [RCV003428624] Chr5:140850541 [GRCh38]
Chr5:140230126 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.292C>A (p.Arg98=) single nucleotide variant not provided [RCV003428628] Chr5:140882560 [GRCh38]
Chr5:140262145 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018910.3(PCDHA7):c.1414T>C (p.Cys472Arg) single nucleotide variant not provided [RCV003429789] Chr5:140835797 [GRCh38]
Chr5:140215382 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018911.3(PCDHA8):c.780A>G (p.Thr260=) single nucleotide variant not provided [RCV003429791] Chr5:140842101 [GRCh38]
Chr5:140221686 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018911.3(PCDHA8):c.1020T>C (p.Ile340=) single nucleotide variant not provided [RCV003429792] Chr5:140842341 [GRCh38]
Chr5:140221926 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.1014_1022del (p.Glu338_Leu340del) deletion not provided [RCV003429800] Chr5:140857058..140857066 [GRCh38]
Chr5:140236643..140236651 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.98A>G (p.Tyr33Cys) single nucleotide variant not provided [RCV003429808] Chr5:140869201 [GRCh38]
Chr5:140248786 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.768A>G (p.Gln256=) single nucleotide variant not provided [RCV003429813] Chr5:140876240 [GRCh38]
Chr5:140255825 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.2202G>A (p.Pro734=) single nucleotide variant not provided [RCV003429818] Chr5:140884470 [GRCh38]
Chr5:140264055 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018898.5(PCDHAC1):c.1671T>C (p.Phe557=) single nucleotide variant not provided [RCV003429819] Chr5:140928563 [GRCh38]
Chr5:140308148 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.2460G>A (p.Ser820=) single nucleotide variant not provided [RCV003429821] Chr5:140969226 [GRCh38]
Chr5:140348811 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.1416C>G (p.His472Gln) single nucleotide variant not provided [RCV003428625] Chr5:140857464 [GRCh38]
Chr5:140237049 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018909.4(PCDHA6):c.432A>G (p.Glu144=) single nucleotide variant not provided [RCV003429784] Chr5:140828523 [GRCh38]
Chr5:140208108 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.1407A>G (p.Pro469=) single nucleotide variant not provided [RCV003429811] Chr5:140870510 [GRCh38]
Chr5:140250095 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2385+74492C>A single nucleotide variant not provided [RCV003429817] Chr5:140884064 [GRCh38]
Chr5:140263649 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.2052C>T (p.Gly684=) single nucleotide variant not provided [RCV003457447] Chr5:140858100 [GRCh38]
Chr5:140237685 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.1911G>A (p.Leu637=) single nucleotide variant not provided [RCV003457448] Chr5:140968677 [GRCh38]
Chr5:140348262 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.1800T>C (p.Ser600=) single nucleotide variant not provided [RCV003429801] Chr5:140857848 [GRCh38]
Chr5:140237433 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.1800A>C (p.Ser600=) single nucleotide variant not provided [RCV003429812] Chr5:140870903 [GRCh38]
Chr5:140250488 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1813G>T (p.Ala605Ser) single nucleotide variant not provided [RCV003429814] Chr5:140877285 [GRCh38]
Chr5:140256870 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.1161C>G (p.Leu387=) single nucleotide variant not provided [RCV003429820] Chr5:140967927 [GRCh38]
Chr5:140347512 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018909.4(PCDHA6):c.1716T>C (p.Gly572=) single nucleotide variant not provided [RCV003428620] Chr5:140829807 [GRCh38]
Chr5:140209392 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2385+53659C>T single nucleotide variant not provided [RCV003428627] Chr5:140863231 [GRCh38]
Chr5:140242816 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.405A>G (p.Ala135=) single nucleotide variant not provided [RCV003429783] Chr5:140807592 [GRCh38]
Chr5:140187177 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018910.3(PCDHA7):c.645C>T (p.Thr215=) single nucleotide variant not provided [RCV003429788] Chr5:140835028 [GRCh38]
Chr5:140214613 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018900.4(PCDHA1):c.2394+59919G>C single nucleotide variant PCDHA9-related disorder [RCV003929145]|not provided [RCV003429793] Chr5:140848603 [GRCh38]
Chr5:140228188 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2385+39447A>G single nucleotide variant not provided [RCV003429797] Chr5:140849019 [GRCh38]
Chr5:140228604 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.179A>C (p.Gln60Pro) single nucleotide variant not provided [RCV003429799] Chr5:140856227 [GRCh38]
Chr5:140235812 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.2220T>C (p.Ser740=) single nucleotide variant not provided [RCV003429804] Chr5:140858268 [GRCh38]
Chr5:140237853 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.1428G>C (p.Thr476=) single nucleotide variant not provided [RCV003429815] Chr5:140883696 [GRCh38]
Chr5:140263281 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018909.4(PCDHA6):c.2283G>A (p.Gly761=) single nucleotide variant not provided [RCV003429786] Chr5:140830374 [GRCh38]
Chr5:140209959 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.286T>G (p.Cys96Gly) single nucleotide variant not provided [RCV003429795] Chr5:140848781 [GRCh38]
Chr5:140228366 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.1863T>C (p.Phe621=) single nucleotide variant not provided [RCV003429802] Chr5:140857911 [GRCh38]
Chr5:140237496 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.2017C>T (p.Gln673Ter) single nucleotide variant not provided [RCV003429803] Chr5:140858065 [GRCh38]
Chr5:140237650 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.1668C>T (p.Asp556=) single nucleotide variant not provided [RCV003428626] Chr5:140857716 [GRCh38]
Chr5:140237301 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.2164C>A (p.Arg722=) single nucleotide variant not provided [RCV003428629] Chr5:140884432 [GRCh38]
Chr5:140264017 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.390G>T (p.Pro130=) single nucleotide variant not provided [RCV003436473] Chr5:140807577 [GRCh38]
Chr5:140187162 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018910.3(PCDHA7):c.1617T>C (p.Asp539=) single nucleotide variant not provided [RCV003429790] Chr5:140836000 [GRCh38]
Chr5:140215585 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.123C>T (p.His41=) single nucleotide variant PCDHA9-related disorder [RCV003919203]|not provided [RCV003429794] Chr5:140848618 [GRCh38]
Chr5:140228203 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2385+39349C>A single nucleotide variant not provided [RCV003429796] Chr5:140848921 [GRCh38]
Chr5:140228506 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.2247G>A (p.Ser749=) single nucleotide variant not provided [RCV003429805] Chr5:140858295 [GRCh38]
Chr5:140237880 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2385+53502A>G single nucleotide variant not provided [RCV003429806] Chr5:140863074 [GRCh38]
Chr5:140242659 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2385+59713A>C single nucleotide variant not provided [RCV003429809] Chr5:140869285 [GRCh38]
Chr5:140248870 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.516A>G (p.Leu172=) single nucleotide variant not provided [RCV003429810] Chr5:140869619 [GRCh38]
Chr5:140249204 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018909.4(PCDHA6):c.1797C>G (p.Ala599=) single nucleotide variant not provided [RCV003428621] Chr5:140829888 [GRCh38]
Chr5:140209473 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.480G>T (p.Ser160=) single nucleotide variant not provided [RCV003428630] Chr5:140967246 [GRCh38]
Chr5:140346831 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1907C>T (p.Ala636Val) single nucleotide variant PCDHA9-related disorder [RCV003899443] Chr5:140850402 [GRCh38]
Chr5:140229987 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1320G>A (p.Arg440=) single nucleotide variant PCDHA9-related disorder [RCV003894238] Chr5:140849815 [GRCh38]
Chr5:140229400 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1501G>C (p.Glu501Gln) single nucleotide variant PCDHA9-related disorder [RCV003972133] Chr5:140849996 [GRCh38]
Chr5:140229581 [GRCh37]
Chr5:5q31.3		 benign
NM_031857.2(PCDHA9):c.1006C>G (p.Leu336Val) single nucleotide variant PCDHA9-related disorder [RCV003974438] Chr5:140849501 [GRCh38]
Chr5:140229086 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.330A>G (p.Val110=) single nucleotide variant PCDHA9-related disorder [RCV003974442] Chr5:140848825 [GRCh38]
Chr5:140228410 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1714G>C (p.Gly572Arg) single nucleotide variant PCDHA9-related disorder [RCV003981993] Chr5:140850209 [GRCh38]
Chr5:140229794 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.84C>A (p.Ser28Arg) single nucleotide variant PCDHA9-related disorder [RCV003982079] Chr5:140848579 [GRCh38]
Chr5:140228164 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1365C>T (p.Phe455=) single nucleotide variant PCDHA9-related disorder [RCV003899438] Chr5:140849860 [GRCh38]
Chr5:140229445 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1446T>G (p.Ala482=) single nucleotide variant PCDHA9-related disorder [RCV003982285] Chr5:140849941 [GRCh38]
Chr5:140229526 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2291A>C (p.Lys764Thr) single nucleotide variant PCDHA9-related disorder [RCV003982460] Chr5:140850786 [GRCh38]
Chr5:140230371 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1614C>G (p.Arg538=) single nucleotide variant PCDHA9-related disorder [RCV003978932] Chr5:140850109 [GRCh38]
Chr5:140229694 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1356A>T (p.Ala452=) single nucleotide variant PCDHA9-related disorder [RCV003951377] Chr5:140849851 [GRCh38]
Chr5:140229436 [GRCh37]
Chr5:5q31.3		 benign
NM_031857.2(PCDHA9):c.1834C>A (p.Gln612Lys) single nucleotide variant PCDHA9-related disorder [RCV003951560] Chr5:140850329 [GRCh38]
Chr5:140229914 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1845G>C (p.Thr615=) single nucleotide variant PCDHA9-related disorder [RCV003974122] Chr5:140850340 [GRCh38]
Chr5:140229925 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.333C>A (p.Asp111Glu) single nucleotide variant PCDHA9-related disorder [RCV003967335] Chr5:140848828 [GRCh38]
Chr5:140228413 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1288G>C (p.Gly430Arg) single nucleotide variant PCDHA9-related disorder [RCV003974452] Chr5:140849783 [GRCh38]
Chr5:140229368 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.816C>T (p.Gly272=) single nucleotide variant PCDHA9-related disorder [RCV003969265]|not provided [RCV004704946] Chr5:140849311 [GRCh38]
Chr5:140228896 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2290A>C (p.Lys764Gln) single nucleotide variant PCDHA9-related disorder [RCV003981900] Chr5:140850785 [GRCh38]
Chr5:140230370 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.192C>G (p.Phe64Leu) single nucleotide variant PCDHA9-related disorder [RCV003931394] Chr5:140848687 [GRCh38]
Chr5:140228272 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2042G>A (p.Arg681Gln) single nucleotide variant PCDHA9-related disorder [RCV003978995] Chr5:140850537 [GRCh38]
Chr5:140230122 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1383G>A (p.Thr461=) single nucleotide variant PCDHA9-related disorder [RCV003899695] Chr5:140849878 [GRCh38]
Chr5:140229463 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.366G>A (p.Glu122=) single nucleotide variant PCDHA9-related disorder [RCV003961729] Chr5:140848861 [GRCh38]
Chr5:140228446 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2199G>A (p.Ala733=) single nucleotide variant PCDHA9-related disorder [RCV003961879] Chr5:140850694 [GRCh38]
Chr5:140230279 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.299C>T (p.Ala100Val) single nucleotide variant not provided [RCV003885570] Chr5:140875771 [GRCh38]
Chr5:140255356 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1155T>G (p.Val385=) single nucleotide variant PCDHA9-related disorder [RCV003931847] Chr5:140849650 [GRCh38]
Chr5:140229235 [GRCh37]
Chr5:5q31.3		 benign
NM_031857.2(PCDHA9):c.1600C>T (p.Gln534Ter) single nucleotide variant PCDHA9-related disorder [RCV003971466]|not provided [RCV004704947] Chr5:140850095 [GRCh38]
Chr5:140229680 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2304C>T (p.Asp768=) single nucleotide variant PCDHA9-related disorder [RCV003932023] Chr5:140850799 [GRCh38]
Chr5:140230384 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.114A>G (p.Glu38=) single nucleotide variant PCDHA9-related disorder [RCV003929762] Chr5:140848609 [GRCh38]
Chr5:140228194 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.117C>T (p.Ala39=) single nucleotide variant PCDHA9-related disorder [RCV003929713] Chr5:140848612 [GRCh38]
Chr5:140228197 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1302A>G (p.Ser434=) single nucleotide variant PCDHA9-related disorder [RCV003968915] Chr5:140849797 [GRCh38]
Chr5:140229382 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2394+59G>A single nucleotide variant PCDHA9-related disorder [RCV003976408] Chr5:140850948 [GRCh38]
Chr5:140230533 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2394+74C>A single nucleotide variant PCDHA9-related disorder [RCV003951483] Chr5:140850963 [GRCh38]
Chr5:140230548 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.118G>A (p.Glu40Lys) single nucleotide variant PCDHA9-related disorder [RCV003917141] Chr5:140848613 [GRCh38]
Chr5:140228198 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1419C>T (p.His473=) single nucleotide variant PCDHA9-related disorder [RCV003927385] Chr5:140849914 [GRCh38]
Chr5:140229499 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.393A>G (p.Pro131=) single nucleotide variant PCDHA9-related disorder [RCV003916815] Chr5:140848888 [GRCh38]
Chr5:140228473 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.2802C>T (p.Thr934=) single nucleotide variant PCDHA13-related disorder [RCV003942030] Chr5:141009886 [GRCh38]
Chr5:140389471 [GRCh37]
Chr5:5q31.3		 benign
NM_018904.3(PCDHA13):c.2543-9_2543-8del deletion PCDHA13-related disorder [RCV003941959] Chr5:141009617..141009618 [GRCh38]
Chr5:140389202..140389203 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2057C>A (p.Ala686Asp) single nucleotide variant PCDHA9-related disorder [RCV003894747] Chr5:140850552 [GRCh38]
Chr5:140230137 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1236T>C (p.Ala412=) single nucleotide variant PCDHA9-related disorder [RCV003979121] Chr5:140849731 [GRCh38]
Chr5:140229316 [GRCh37]
Chr5:5q31.3		 benign
NM_031857.2(PCDHA9):c.2091C>T (p.Asn697=) single nucleotide variant PCDHA9-related disorder [RCV003909392] Chr5:140850586 [GRCh38]
Chr5:140230171 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.309T>C (p.Ser103=) single nucleotide variant not provided [RCV003885571] Chr5:140875781 [GRCh38]
Chr5:140255366 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1179C>T (p.Val393=) single nucleotide variant PCDHA9-related disorder [RCV003969256] Chr5:140849674 [GRCh38]
Chr5:140229259 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1820T>G (p.Leu607Arg) single nucleotide variant not specified [RCV004497861] Chr5:140850315 [GRCh38]
Chr5:140229900 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1915G>C (p.Glu639Gln) single nucleotide variant not specified [RCV004497863] Chr5:140850410 [GRCh38]
Chr5:140229995 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.404C>A (p.Ala135Glu) single nucleotide variant not specified [RCV004497868] Chr5:140848899 [GRCh38]
Chr5:140228484 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.314T>C (p.Ile105Thr) single nucleotide variant not specified [RCV004497889] Chr5:140967080 [GRCh38]
Chr5:140346665 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1514C>T (p.Thr505Ile) single nucleotide variant not specified [RCV004497885] Chr5:140968280 [GRCh38]
Chr5:140347865 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.806A>C (p.Gln269Pro) single nucleotide variant not specified [RCV004497882] Chr5:140927698 [GRCh38]
Chr5:140307283 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.686A>G (p.Asn229Ser) single nucleotide variant not specified [RCV004497881] Chr5:140927578 [GRCh38]
Chr5:140307163 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2291C>T (p.Ser764Phe) single nucleotide variant not specified [RCV004497875] Chr5:140929183 [GRCh38]
Chr5:140308768 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1717A>C (p.Thr573Pro) single nucleotide variant not specified [RCV004497859] Chr5:140850212 [GRCh38]
Chr5:140229797 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.163G>C (p.Glu55Gln) single nucleotide variant not specified [RCV004497858] Chr5:140848658 [GRCh38]
Chr5:140228243 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1798G>A (p.Asp600Asn) single nucleotide variant not specified [RCV004497860] Chr5:140850293 [GRCh38]
Chr5:140229878 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2206G>A (p.Ala736Thr) single nucleotide variant not specified [RCV004497888] Chr5:140968972 [GRCh38]
Chr5:140348557 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2096G>A (p.Arg699Gln) single nucleotide variant not specified [RCV004497887] Chr5:140968862 [GRCh38]
Chr5:140348447 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.211C>T (p.Arg71Cys) single nucleotide variant not specified [RCV004497865] Chr5:140848706 [GRCh38]
Chr5:140228291 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1423G>A (p.Gly475Arg) single nucleotide variant not specified [RCV004497872] Chr5:140928315 [GRCh38]
Chr5:140307900 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.129G>C (p.Gln43His) single nucleotide variant not specified [RCV004497884] Chr5:140966895 [GRCh38]
Chr5:140346480 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.577C>G (p.Arg193Gly) single nucleotide variant not specified [RCV004497879] Chr5:140927469 [GRCh38]
Chr5:140307054 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.285G>T (p.Leu95Phe) single nucleotide variant not specified [RCV004497876] Chr5:140927177 [GRCh38]
Chr5:140306762 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.438G>A (p.Arg146=) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557867] Chr5:140848933 [GRCh38]
Chr5:140228518 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1851C>A (p.Ser617Arg) single nucleotide variant not specified [RCV004497862] Chr5:140850346 [GRCh38]
Chr5:140229931 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.2185G>A (p.Glu729Lys) single nucleotide variant not specified [RCV004497866] Chr5:140850680 [GRCh38]
Chr5:140230265 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.2380G>A (p.Asp794Asn) single nucleotide variant not specified [RCV004497867] Chr5:140850875 [GRCh38]
Chr5:140230460 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1492C>T (p.Arg498Trp) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557865] Chr5:140876964 [GRCh38]
Chr5:140256549 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018898.5(PCDHAC1):c.1661T>A (p.Val554Asp) single nucleotide variant not specified [RCV004497873] Chr5:140928553 [GRCh38]
Chr5:140308138 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.710G>T (p.Arg237Leu) single nucleotide variant not specified [RCV004497890] Chr5:140967476 [GRCh38]
Chr5:140347061 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.442G>A (p.Ala148Thr) single nucleotide variant not specified [RCV004497878] Chr5:140927334 [GRCh38]
Chr5:140306919 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1099G>A (p.Val367Ile) single nucleotide variant not specified [RCV004505159] Chr5:140857147 [GRCh38]
Chr5:140236732 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1127A>G (p.His376Arg) single nucleotide variant not specified [RCV004505162] Chr5:140857175 [GRCh38]
Chr5:140236760 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.1255G>C (p.Ala419Pro) single nucleotide variant not specified [RCV004505166] Chr5:140857303 [GRCh38]
Chr5:140236888 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1382T>C (p.Val461Ala) single nucleotide variant not specified [RCV004505168] Chr5:140857430 [GRCh38]
Chr5:140237015 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1318G>T (p.Val440Leu) single nucleotide variant not specified [RCV004505182] Chr5:140870421 [GRCh38]
Chr5:140250006 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.307A>G (p.Ser103Gly) single nucleotide variant not specified [RCV004505188] Chr5:140869410 [GRCh38]
Chr5:140248995 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1093G>C (p.Val365Leu) single nucleotide variant not specified [RCV004505193] Chr5:140876565 [GRCh38]
Chr5:140256150 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1456A>G (p.Lys486Glu) single nucleotide variant not specified [RCV004505195] Chr5:140876928 [GRCh38]
Chr5:140256513 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.2200C>T (p.Pro734Ser) single nucleotide variant not specified [RCV004505203] Chr5:140877672 [GRCh38]
Chr5:140257257 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.292C>T (p.Arg98Trp) single nucleotide variant not specified [RCV004505208] Chr5:140875764 [GRCh38]
Chr5:140255349 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.824G>C (p.Gly275Ala) single nucleotide variant not specified [RCV004505215] Chr5:140876296 [GRCh38]
Chr5:140255881 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1108G>T (p.Ala370Ser) single nucleotide variant not specified [RCV004505219] Chr5:140883376 [GRCh38]
Chr5:140262961 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1535C>T (p.Ala512Val) single nucleotide variant not specified [RCV004505224] Chr5:140883803 [GRCh38]
Chr5:140263388 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1644C>G (p.Asn548Lys) single nucleotide variant not specified [RCV004505226] Chr5:140883912 [GRCh38]
Chr5:140263497 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1804G>T (p.Gly602Cys) single nucleotide variant not specified [RCV004505227] Chr5:140884072 [GRCh38]
Chr5:140263657 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.545C>A (p.Ala182Glu) single nucleotide variant not specified [RCV004505239] Chr5:140882813 [GRCh38]
Chr5:140262398 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.742A>G (p.Lys248Glu) single nucleotide variant not specified [RCV004505242] Chr5:140883010 [GRCh38]
Chr5:140262595 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1615G>T (p.Asp539Tyr) single nucleotide variant not specified [RCV004505283] Chr5:140808802 [GRCh38]
Chr5:140188387 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.2189G>T (p.Gly730Val) single nucleotide variant not specified [RCV004505289] Chr5:140809376 [GRCh38]
Chr5:140188961 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.2258A>C (p.Gln753Pro) single nucleotide variant not specified [RCV004505291] Chr5:140809445 [GRCh38]
Chr5:140189030 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1046T>C (p.Met349Thr) single nucleotide variant not specified [RCV004505295] Chr5:140822821 [GRCh38]
Chr5:140202406 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1573G>A (p.Glu525Lys) single nucleotide variant not specified [RCV004505298] Chr5:140823348 [GRCh38]
Chr5:140202933 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2311T>G (p.Phe771Val) single nucleotide variant not specified [RCV004505307] Chr5:140824086 [GRCh38]
Chr5:140203671 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1292G>C (p.Gly431Ala) single nucleotide variant not specified [RCV004505314] Chr5:140829383 [GRCh38]
Chr5:140208968 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1466T>C (p.Leu489Pro) single nucleotide variant not specified [RCV004505318] Chr5:140829557 [GRCh38]
Chr5:140209142 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1118T>A (p.Val373Asp) single nucleotide variant not specified [RCV004505161] Chr5:140857166 [GRCh38]
Chr5:140236751 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1138G>A (p.Ala380Thr) single nucleotide variant not specified [RCV004505163] Chr5:140857186 [GRCh38]
Chr5:140236771 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2234G>T (p.Ser745Ile) single nucleotide variant not specified [RCV004505174] Chr5:140858282 [GRCh38]
Chr5:140237867 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.290G>T (p.Arg97Leu) single nucleotide variant not specified [RCV004505176] Chr5:140856338 [GRCh38]
Chr5:140235923 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1742C>T (p.Pro581Leu) single nucleotide variant not specified [RCV004505185] Chr5:140870845 [GRCh38]
Chr5:140250430 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1586A>G (p.Glu529Gly) single nucleotide variant not specified [RCV004505197] Chr5:140877058 [GRCh38]
Chr5:140256643 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1935C>G (p.His645Gln) single nucleotide variant not specified [RCV004505200] Chr5:140877407 [GRCh38]
Chr5:140256992 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.577G>A (p.Glu193Lys) single nucleotide variant not specified [RCV004505212] Chr5:140876049 [GRCh38]
Chr5:140255634 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.311C>T (p.Pro104Leu) single nucleotide variant not specified [RCV004497877] Chr5:140927203 [GRCh38]
Chr5:140306788 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1568T>C (p.Leu523Pro) single nucleotide variant not specified [RCV004505281] Chr5:140808755 [GRCh38]
Chr5:140188340 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1575C>A (p.His525Gln) single nucleotide variant not specified [RCV004505282] Chr5:140808762 [GRCh38]
Chr5:140188347 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1925C>T (p.Ala642Val) single nucleotide variant not specified [RCV004505284] Chr5:140809112 [GRCh38]
Chr5:140188697 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1972G>T (p.Ala658Ser) single nucleotide variant not specified [RCV004505285] Chr5:140809159 [GRCh38]
Chr5:140188744 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1579G>C (p.Val527Leu) single nucleotide variant not specified [RCV004505299] Chr5:140823354 [GRCh38]
Chr5:140202939 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018908.3(PCDHA5):c.292A>T (p.Arg98Trp) single nucleotide variant not specified [RCV004505310] Chr5:140822067 [GRCh38]
Chr5:140201652 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.417A>C (p.Leu139Phe) single nucleotide variant not specified [RCV004505311] Chr5:140822192 [GRCh38]
Chr5:140201777 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1342A>G (p.Met448Val) single nucleotide variant not specified [RCV004505316] Chr5:140829433 [GRCh38]
Chr5:140209018 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018909.4(PCDHA6):c.2384A>G (p.His795Arg) single nucleotide variant not specified [RCV004505325] Chr5:140830475 [GRCh38]
Chr5:140210060 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1592T>G (p.Leu531Trp) single nucleotide variant not specified [RCV004505337] Chr5:140835975 [GRCh38]
Chr5:140215560 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1390G>C (p.Val464Leu) single nucleotide variant not specified [RCV004505351] Chr5:140842711 [GRCh38]
Chr5:140222296 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1417C>T (p.His473Tyr) single nucleotide variant not specified [RCV004505352] Chr5:140842738 [GRCh38]
Chr5:140222323 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1517G>A (p.Ser506Asn) single nucleotide variant not specified [RCV004505354] Chr5:140842838 [GRCh38]
Chr5:140222423 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1532A>C (p.His511Pro) single nucleotide variant not specified [RCV004505355] Chr5:140842853 [GRCh38]
Chr5:140222438 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1608C>G (p.Ser536Arg) single nucleotide variant not specified [RCV004505356] Chr5:140842929 [GRCh38]
Chr5:140222514 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1688C>T (p.Pro563Leu) single nucleotide variant not specified [RCV004505357] Chr5:140843009 [GRCh38]
Chr5:140222594 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1706G>C (p.Arg569Pro) single nucleotide variant not specified [RCV004505358] Chr5:140843027 [GRCh38]
Chr5:140222612 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1874G>T (p.Gly625Val) single nucleotide variant not specified [RCV004505359] Chr5:140843195 [GRCh38]
Chr5:140222780 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2065C>A (p.Pro689Thr) single nucleotide variant not specified [RCV004505360] Chr5:140843386 [GRCh38]
Chr5:140222971 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2093T>G (p.Val698Gly) single nucleotide variant not specified [RCV004505361] Chr5:140843414 [GRCh38]
Chr5:140222999 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1198A>C (p.Thr400Pro) single nucleotide variant not specified [RCV004505373] Chr5:140849693 [GRCh38]
Chr5:140229278 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1222G>C (p.Val408Leu) single nucleotide variant not specified [RCV004505374] Chr5:140849717 [GRCh38]
Chr5:140229302 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1348G>A (p.Asp450Asn) single nucleotide variant not specified [RCV004505375] Chr5:140849843 [GRCh38]
Chr5:140229428 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1067T>C (p.Leu356Pro) single nucleotide variant not specified [RCV004505158] Chr5:140857115 [GRCh38]
Chr5:140236700 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1199A>T (p.Tyr400Phe) single nucleotide variant not specified [RCV004505165] Chr5:140857247 [GRCh38]
Chr5:140236832 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.1556T>C (p.Leu519Pro) single nucleotide variant not specified [RCV004505170] Chr5:140857604 [GRCh38]
Chr5:140237189 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.510A>C (p.Lys170Asn) single nucleotide variant not specified [RCV004505177] Chr5:140856558 [GRCh38]
Chr5:140236143 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.934A>C (p.Ser312Arg) single nucleotide variant not specified [RCV004505180] Chr5:140856982 [GRCh38]
Chr5:140236567 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1490G>T (p.Arg497Leu) single nucleotide variant not specified [RCV004505376] Chr5:140849985 [GRCh38]
Chr5:140229570 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1495T>G (p.Leu499Val) single nucleotide variant not specified [RCV004505377] Chr5:140849990 [GRCh38]
Chr5:140229575 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1543G>A (p.Gly515Ser) single nucleotide variant not specified [RCV004505378] Chr5:140850038 [GRCh38]
Chr5:140229623 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.514C>G (p.Leu172Val) single nucleotide variant not specified [RCV004505190] Chr5:140869617 [GRCh38]
Chr5:140249202 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.274C>T (p.Arg92Cys) single nucleotide variant not specified [RCV004505207] Chr5:140875746 [GRCh38]
Chr5:140255331 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1109C>T (p.Ala370Val) single nucleotide variant not specified [RCV004505220] Chr5:140883377 [GRCh38]
Chr5:140262962 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2197C>T (p.Arg733Cys) single nucleotide variant not specified [RCV004338873] Chr5:140968963 [GRCh38]
Chr5:140348548 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2275T>G (p.Cys759Gly) single nucleotide variant not specified [RCV004358939] Chr5:140836658 [GRCh38]
Chr5:140216243 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.31G>T (p.Gly11Cys) single nucleotide variant not specified [RCV004346567] Chr5:140848526 [GRCh38]
Chr5:140228111 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1726G>A (p.Ala576Thr) single nucleotide variant not specified [RCV004349770] Chr5:140877198 [GRCh38]
Chr5:140256783 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.125C>G (p.Thr42Ser) single nucleotide variant not specified [RCV004347301] Chr5:140821900 [GRCh38]
Chr5:140201485 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2207C>A (p.Ala736Glu) single nucleotide variant not specified [RCV004361436] Chr5:140968973 [GRCh38]
Chr5:140348558 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2168G>T (p.Cys723Phe) single nucleotide variant not specified [RCV004505363] Chr5:140843489 [GRCh38]
Chr5:140223074 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2367A>T (p.Gln789His) single nucleotide variant not specified [RCV004505364] Chr5:140843688 [GRCh38]
Chr5:140223273 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.239A>G (p.Gln80Arg) single nucleotide variant not specified [RCV004505365] Chr5:140841560 [GRCh38]
Chr5:140221145 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.352C>T (p.His118Tyr) single nucleotide variant not specified [RCV004505366] Chr5:140841673 [GRCh38]
Chr5:140221258 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.38G>T (p.Arg13Leu) single nucleotide variant not specified [RCV004505367] Chr5:140841359 [GRCh38]
Chr5:140220944 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1522G>T (p.Val508Leu) single nucleotide variant not specified [RCV004505223] Chr5:140883790 [GRCh38]
Chr5:140263375 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1849G>A (p.Gly617Ser) single nucleotide variant not specified [RCV004505229] Chr5:140884117 [GRCh38]
Chr5:140263702 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.623A>T (p.His208Leu) single nucleotide variant not specified [RCV004505240] Chr5:140882891 [GRCh38]
Chr5:140262476 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.848G>A (p.Arg283Lys) single nucleotide variant not specified [RCV004505243] Chr5:140883116 [GRCh38]
Chr5:140262701 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1088C>T (p.Ala363Val) single nucleotide variant not specified [RCV004505279] Chr5:140808275 [GRCh38]
Chr5:140187860 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.297C>G (p.Ser99Arg) single nucleotide variant not specified [RCV004505292] Chr5:140807484 [GRCh38]
Chr5:140187069 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1859C>T (p.Pro620Leu) single nucleotide variant not specified [RCV004505300] Chr5:140823634 [GRCh38]
Chr5:140203219 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2101A>T (p.Ile701Phe) single nucleotide variant not specified [RCV004505303] Chr5:140823876 [GRCh38]
Chr5:140203461 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.190T>G (p.Phe64Val) single nucleotide variant not specified [RCV004505322] Chr5:140828281 [GRCh38]
Chr5:140207866 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.243T>G (p.Asn81Lys) single nucleotide variant not specified [RCV004505326] Chr5:140828334 [GRCh38]
Chr5:140207919 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.904A>G (p.Ile302Val) single nucleotide variant not specified [RCV004505332] Chr5:140828995 [GRCh38]
Chr5:140208580 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1685C>T (p.Ala562Val) single nucleotide variant not specified [RCV004505338] Chr5:140836068 [GRCh38]
Chr5:140215653 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1202T>A (p.Phe401Tyr) single nucleotide variant not specified [RCV004505349] Chr5:140842523 [GRCh38]
Chr5:140222108 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1781G>T (p.Arg594Leu) single nucleotide variant not specified [RCV004505186] Chr5:140870884 [GRCh38]
Chr5:140250469 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.487G>A (p.Glu163Lys) single nucleotide variant not specified [RCV004505189] Chr5:140869590 [GRCh38]
Chr5:140249175 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.723G>T (p.Glu241Asp) single nucleotide variant not specified [RCV004505191] Chr5:140869826 [GRCh38]
Chr5:140249411 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1678G>C (p.Asp560His) single nucleotide variant not specified [RCV004505198] Chr5:140877150 [GRCh38]
Chr5:140256735 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1474T>C (p.Tyr492His) single nucleotide variant not specified [RCV004505222] Chr5:140883742 [GRCh38]
Chr5:140263327 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1216T>C (p.Ser406Pro) single nucleotide variant not specified [RCV004505280] Chr5:140808403 [GRCh38]
Chr5:140187988 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.2090A>G (p.Asn697Ser) single nucleotide variant not specified [RCV004505286] Chr5:140809277 [GRCh38]
Chr5:140188862 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.2213C>G (p.Thr738Arg) single nucleotide variant not specified [RCV004505290] Chr5:140809400 [GRCh38]
Chr5:140188985 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2182G>A (p.Glu728Lys) single nucleotide variant not specified [RCV004505305] Chr5:140823957 [GRCh38]
Chr5:140203542 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2329C>G (p.Gln777Glu) single nucleotide variant not specified [RCV004505308] Chr5:140824104 [GRCh38]
Chr5:140203689 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1443C>G (p.Asp481Glu) single nucleotide variant not specified [RCV004505317] Chr5:140829534 [GRCh38]
Chr5:140209119 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1748G>A (p.Arg583Gln) single nucleotide variant not specified [RCV004505320] Chr5:140829839 [GRCh38]
Chr5:140209424 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.293G>A (p.Arg98Gln) single nucleotide variant not specified [RCV004505327] Chr5:140828384 [GRCh38]
Chr5:140207969 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1185C>G (p.Phe395Leu) single nucleotide variant not specified [RCV004505335] Chr5:140835568 [GRCh38]
Chr5:140215153 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1784G>T (p.Arg595Leu) single nucleotide variant not specified [RCV004505341] Chr5:140836167 [GRCh38]
Chr5:140215752 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.178G>A (p.Val60Met) single nucleotide variant not specified [RCV004505342] Chr5:140834561 [GRCh38]
Chr5:140214146 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1833G>C (p.Leu611Phe) single nucleotide variant not specified [RCV004505343] Chr5:140836216 [GRCh38]
Chr5:140215801 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018910.3(PCDHA7):c.2016C>A (p.Ser672Arg) single nucleotide variant not specified [RCV004505344] Chr5:140836399 [GRCh38]
Chr5:140215984 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2117C>A (p.Ala706Glu) single nucleotide variant not specified [RCV004505345] Chr5:140836500 [GRCh38]
Chr5:140216085 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.254T>C (p.Phe85Ser) single nucleotide variant not specified [RCV004505346] Chr5:140834637 [GRCh38]
Chr5:140214222 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.899G>T (p.Gly300Val) single nucleotide variant not specified [RCV004505347] Chr5:140835282 [GRCh38]
Chr5:140214867 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.923T>C (p.Met308Thr) single nucleotide variant not specified [RCV004505348] Chr5:140835306 [GRCh38]
Chr5:140214891 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1376A>T (p.Glu459Val) single nucleotide variant not specified [RCV004505350] Chr5:140842697 [GRCh38]
Chr5:140222282 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.965C>T (p.Ala322Val) single nucleotide variant not specified [RCV004505369] Chr5:140842286 [GRCh38]
Chr5:140221871 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1052C>T (p.Thr351Ile) single nucleotide variant not specified [RCV004505370] Chr5:140849547 [GRCh38]
Chr5:140229132 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.1094T>C (p.Leu365Pro) single nucleotide variant not specified [RCV004505371] Chr5:140849589 [GRCh38]
Chr5:140229174 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1102G>T (p.Val368Phe) single nucleotide variant not specified [RCV004505372] Chr5:140849597 [GRCh38]
Chr5:140229182 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1169C>T (p.Thr390Met) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557866] Chr5:140829260 [GRCh38]
Chr5:140208845 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2015G>C (p.Ser672Thr) single nucleotide variant not specified [RCV004497864] Chr5:140850510 [GRCh38]
Chr5:140230095 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.944C>A (p.Ala315Glu) single nucleotide variant not specified [RCV004497869] Chr5:140849439 [GRCh38]
Chr5:140229024 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1181A>G (p.Tyr394Cys) single nucleotide variant not specified [RCV004497870] Chr5:140928073 [GRCh38]
Chr5:140307658 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1615G>A (p.Asp539Asn) single nucleotide variant not specified [RCV004497857] Chr5:140850110 [GRCh38]
Chr5:140229695 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1189C>G (p.Leu397Val) single nucleotide variant not specified [RCV004497871] Chr5:140928081 [GRCh38]
Chr5:140307666 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.196G>C (p.Gly66Arg) single nucleotide variant not specified [RCV004497886] Chr5:140966962 [GRCh38]
Chr5:140346547 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.839T>G (p.Leu280Arg) single nucleotide variant not specified [RCV004497883] Chr5:140927731 [GRCh38]
Chr5:140307316 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1345G>A (p.Asp449Asn) single nucleotide variant not specified [RCV004505167] Chr5:140857393 [GRCh38]
Chr5:140236978 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1511C>T (p.Ser504Leu) single nucleotide variant not specified [RCV004505169] Chr5:140857559 [GRCh38]
Chr5:140237144 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.761A>G (p.Gln254Arg) single nucleotide variant not specified [RCV004505179] Chr5:140856809 [GRCh38]
Chr5:140236394 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.100G>A (p.Val34Ile) single nucleotide variant not specified [RCV004505157] Chr5:140856148 [GRCh38]
Chr5:140235733 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1116C>G (p.Ser372Arg) single nucleotide variant not specified [RCV004505160] Chr5:140857164 [GRCh38]
Chr5:140236749 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1156T>C (p.Cys386Arg) single nucleotide variant not specified [RCV004505164] Chr5:140857204 [GRCh38]
Chr5:140236789 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1815G>T (p.Trp605Cys) single nucleotide variant not specified [RCV004505171] Chr5:140857863 [GRCh38]
Chr5:140237448 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2224G>T (p.Ala742Ser) single nucleotide variant not specified [RCV004505173] Chr5:140858272 [GRCh38]
Chr5:140237857 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.650G>A (p.Gly217Asp) single nucleotide variant not specified [RCV004505178] Chr5:140856698 [GRCh38]
Chr5:140236283 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1412G>A (p.Cys471Tyr) single nucleotide variant not specified [RCV004505183] Chr5:140870515 [GRCh38]
Chr5:140250100 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1414C>T (p.His472Tyr) single nucleotide variant not specified [RCV004505184] Chr5:140870517 [GRCh38]
Chr5:140250102 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.293A>G (p.Gln98Arg) single nucleotide variant not specified [RCV004505187] Chr5:140869396 [GRCh38]
Chr5:140248981 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.824G>A (p.Gly275Glu) single nucleotide variant not specified [RCV004505192] Chr5:140869927 [GRCh38]
Chr5:140249512 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1678G>T (p.Asp560Tyr) single nucleotide variant not specified [RCV004505199] Chr5:140877150 [GRCh38]
Chr5:140256735 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.2075C>T (p.Ala692Val) single nucleotide variant not specified [RCV004505202] Chr5:140877547 [GRCh38]
Chr5:140257132 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.417G>T (p.Lys139Asn) single nucleotide variant not specified [RCV004505210] Chr5:140875889 [GRCh38]
Chr5:140255474 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.2213C>T (p.Thr738Met) single nucleotide variant not specified [RCV004505204] Chr5:140877685 [GRCh38]
Chr5:140257270 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.2270G>T (p.Arg757Met) single nucleotide variant not specified [RCV004505206] Chr5:140877742 [GRCh38]
Chr5:140257327 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.371A>G (p.Lys124Arg) single nucleotide variant not specified [RCV004505209] Chr5:140875843 [GRCh38]
Chr5:140255428 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.418G>T (p.Val140Leu) single nucleotide variant not specified [RCV004505211] Chr5:140875890 [GRCh38]
Chr5:140255475 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.673T>C (p.Ser225Pro) single nucleotide variant not specified [RCV004505213] Chr5:140876145 [GRCh38]
Chr5:140255730 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.746T>C (p.Val249Ala) single nucleotide variant not specified [RCV004505214] Chr5:140876218 [GRCh38]
Chr5:140255803 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.860T>C (p.Val287Ala) single nucleotide variant not specified [RCV004505216] Chr5:140876332 [GRCh38]
Chr5:140255917 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1233C>A (p.Ser411Arg) single nucleotide variant not specified [RCV004505221] Chr5:140883501 [GRCh38]
Chr5:140263086 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1612C>T (p.Arg538Cys) single nucleotide variant not specified [RCV004505225] Chr5:140883880 [GRCh38]
Chr5:140263465 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2048C>T (p.Ser683Leu) single nucleotide variant not specified [RCV004505230] Chr5:140884316 [GRCh38]
Chr5:140263901 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.2051C>T (p.Ala684Val) single nucleotide variant not specified [RCV004505231] Chr5:140884319 [GRCh38]
Chr5:140263904 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2351A>C (p.Glu784Ala) single nucleotide variant not specified [RCV004505233] Chr5:140884619 [GRCh38]
Chr5:140264204 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.280G>A (p.Glu94Lys) single nucleotide variant not specified [RCV004505234] Chr5:140882548 [GRCh38]
Chr5:140262133 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.439C>A (p.Pro147Thr) single nucleotide variant not specified [RCV004505235] Chr5:140882707 [GRCh38]
Chr5:140262292 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.484A>G (p.Ile162Val) single nucleotide variant not specified [RCV004505236] Chr5:140882752 [GRCh38]
Chr5:140262337 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.512G>A (p.Arg171Gln) single nucleotide variant not specified [RCV004505237] Chr5:140882780 [GRCh38]
Chr5:140262365 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.626G>A (p.Ser209Asn) single nucleotide variant not specified [RCV004505241] Chr5:140882894 [GRCh38]
Chr5:140262479 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.923T>A (p.Leu308Gln) single nucleotide variant not specified [RCV004505244] Chr5:140883191 [GRCh38]
Chr5:140262776 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2036C>T (p.Ser679Leu) single nucleotide variant not specified [RCV004505172] Chr5:140858084 [GRCh38]
Chr5:140237669 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1054A>C (p.Ile352Leu) single nucleotide variant not specified [RCV004505218] Chr5:140883322 [GRCh38]
Chr5:140262907 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.2159C>T (p.Ala720Val) single nucleotide variant not specified [RCV004505287] Chr5:140809346 [GRCh38]
Chr5:140188931 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.338C>A (p.Pro113Gln) single nucleotide variant not specified [RCV004505293] Chr5:140807525 [GRCh38]
Chr5:140187110 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.389C>T (p.Pro130Leu) single nucleotide variant not specified [RCV004505294] Chr5:140807576 [GRCh38]
Chr5:140187161 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.13C>T (p.Arg5Trp) single nucleotide variant not specified [RCV004505297] Chr5:140821788 [GRCh38]
Chr5:140201373 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2051G>A (p.Gly684Asp) single nucleotide variant not specified [RCV004505302] Chr5:140823826 [GRCh38]
Chr5:140203411 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2114C>G (p.Ala705Gly) single nucleotide variant not specified [RCV004505304] Chr5:140823889 [GRCh38]
Chr5:140203474 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.266T>G (p.Ile89Ser) single nucleotide variant not specified [RCV004505309] Chr5:140822041 [GRCh38]
Chr5:140201626 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.838T>C (p.Phe280Leu) single nucleotide variant not specified [RCV004505312] Chr5:140822613 [GRCh38]
Chr5:140202198 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.977C>A (p.Thr326Lys) single nucleotide variant not specified [RCV004505313] Chr5:140822752 [GRCh38]
Chr5:140202337 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1313C>T (p.Thr438Ile) single nucleotide variant not specified [RCV004505315] Chr5:140829404 [GRCh38]
Chr5:140208989 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1555G>C (p.Ala519Pro) single nucleotide variant not specified [RCV004505319] Chr5:140829646 [GRCh38]
Chr5:140209231 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1922A>G (p.Asp641Gly) single nucleotide variant not specified [RCV004505323] Chr5:140830013 [GRCh38]
Chr5:140209598 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.2297A>G (p.Lys766Arg) single nucleotide variant not specified [RCV004505324] Chr5:140830388 [GRCh38]
Chr5:140209973 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.536G>A (p.Gly179Glu) single nucleotide variant not specified [RCV004505328] Chr5:140828627 [GRCh38]
Chr5:140208212 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.718C>T (p.Pro240Ser) single nucleotide variant not specified [RCV004505329] Chr5:140828809 [GRCh38]
Chr5:140208394 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.781G>A (p.Val261Ile) single nucleotide variant not specified [RCV004505330] Chr5:140828872 [GRCh38]
Chr5:140208457 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.849C>G (p.Ser283Arg) single nucleotide variant not specified [RCV004505331] Chr5:140828940 [GRCh38]
Chr5:140208525 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1712G>A (p.Gly571Asp) single nucleotide variant not specified [RCV004505340] Chr5:140836095 [GRCh38]
Chr5:140215680 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2150T>C (p.Leu717Pro) single nucleotide variant not specified [RCV004505362] Chr5:140843471 [GRCh38]
Chr5:140223056 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.718C>T (p.Pro240Ser) single nucleotide variant not specified [RCV004505368] Chr5:140842039 [GRCh38]
Chr5:140221624 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.89A>G (p.Gln30Arg) single nucleotide variant not specified [RCV004664333] Chr5:140882357 [GRCh38]
Chr5:140261942 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2290C>G (p.Pro764Ala) single nucleotide variant not specified [RCV004653095] Chr5:140871393 [GRCh38]
Chr5:140250978 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.37C>A (p.Arg13Ser) single nucleotide variant not specified [RCV004653098] Chr5:140875509 [GRCh38]
Chr5:140255094 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.650G>T (p.Gly217Val) single nucleotide variant not specified [RCV004653123] Chr5:140807837 [GRCh38]
Chr5:140187422 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1498G>A (p.Gly500Ser) single nucleotide variant not specified [RCV004653136] Chr5:140842819 [GRCh38]
Chr5:140222404 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1026C>A (p.Phe342Leu) single nucleotide variant not specified [RCV004653146] Chr5:140927918 [GRCh38]
Chr5:140307503 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.2023G>A (p.Ala675Thr) single nucleotide variant not specified [RCV004653151] Chr5:140968789 [GRCh38]
Chr5:140348374 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1157G>T (p.Cys386Phe) single nucleotide variant not specified [RCV004664327] Chr5:140870260 [GRCh38]
Chr5:140249845 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.2233G>T (p.Val745Leu) single nucleotide variant not specified [RCV004664363] Chr5:140850728 [GRCh38]
Chr5:140230313 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1668C>G (p.Asp556Glu) single nucleotide variant not specified [RCV004653086] Chr5:140857716 [GRCh38]
Chr5:140237301 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.2377C>A (p.His793Asn) single nucleotide variant not specified [RCV004653090] Chr5:140858425 [GRCh38]
Chr5:140238010 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.52C>T (p.Leu18Phe) single nucleotide variant not specified [RCV004653104] Chr5:140882320 [GRCh38]
Chr5:140261905 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1360G>T (p.Ala454Ser) single nucleotide variant not specified [RCV004653141] Chr5:140842681 [GRCh38]
Chr5:140222266 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.880C>A (p.Gln294Lys) single nucleotide variant not specified [RCV004653147] Chr5:140927772 [GRCh38]
Chr5:140307357 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1898G>T (p.Arg633Met) single nucleotide variant not specified [RCV004653149] Chr5:140928790 [GRCh38]
Chr5:140308375 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.767A>C (p.Gln256Pro) single nucleotide variant not specified [RCV004664375] Chr5:140927659 [GRCh38]
Chr5:140307244 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1502G>C (p.Arg501Pro) single nucleotide variant not specified [RCV004664320] Chr5:140857550 [GRCh38]
Chr5:140237135 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.499C>G (p.Leu167Val) single nucleotide variant not specified [RCV004664322] Chr5:140856547 [GRCh38]
Chr5:140236132 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1504G>T (p.Ala502Ser) single nucleotide variant not specified [RCV004664324] Chr5:140870607 [GRCh38]
Chr5:140250192 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.469G>C (p.Ala157Pro) single nucleotide variant not specified [RCV004664334] Chr5:140882737 [GRCh38]
Chr5:140262322 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.952A>C (p.Asn318His) single nucleotide variant not specified [RCV004664346] Chr5:140822727 [GRCh38]
Chr5:140202312 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1801T>G (p.Ser601Ala) single nucleotide variant not specified [RCV004664348] Chr5:140829892 [GRCh38]
Chr5:140209477 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.196A>G (p.Met66Val) single nucleotide variant not specified [RCV004664349] Chr5:140828287 [GRCh38]
Chr5:140207872 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018909.4(PCDHA6):c.1672G>C (p.Glu558Gln) single nucleotide variant not specified [RCV004664352] Chr5:140829763 [GRCh38]
Chr5:140209348 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.427G>T (p.Ala143Ser) single nucleotide variant not specified [RCV004664353] Chr5:140834810 [GRCh38]
Chr5:140214395 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1468G>C (p.Val490Leu) single nucleotide variant not specified [RCV004664354] Chr5:140835851 [GRCh38]
Chr5:140215436 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.307A>G (p.Ser103Gly) single nucleotide variant not specified [RCV004664356] Chr5:140834690 [GRCh38]
Chr5:140214275 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1342G>A (p.Val448Met) single nucleotide variant not specified [RCV004664359] Chr5:140842663 [GRCh38]
Chr5:140222248 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1645G>T (p.Val549Leu) single nucleotide variant not specified [RCV004664365] Chr5:140850140 [GRCh38]
Chr5:140229725 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.356T>C (p.Val119Ala) single nucleotide variant not specified [RCV004664367] Chr5:140848851 [GRCh38]
Chr5:140228436 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.2229C>A (p.Ser743Arg) single nucleotide variant not specified [RCV004664368] Chr5:140850724 [GRCh38]
Chr5:140230309 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.2344T>C (p.Ser782Pro) single nucleotide variant not specified [RCV004664370] Chr5:140850839 [GRCh38]
Chr5:140230424 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.535G>A (p.Glu179Lys) single nucleotide variant not specified [RCV004653102] Chr5:140876007 [GRCh38]
Chr5:140255592 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1328T>G (p.Val443Gly) single nucleotide variant not specified [RCV004653105] Chr5:140883596 [GRCh38]
Chr5:140263181 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1181C>G (p.Pro394Arg) single nucleotide variant not specified [RCV004653106] Chr5:140883449 [GRCh38]
Chr5:140263034 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.635T>C (p.Leu212Pro) single nucleotide variant not specified [RCV004653116] Chr5:140807822 [GRCh38]
Chr5:140187407 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1418A>G (p.His473Arg) single nucleotide variant not specified [RCV004653119] Chr5:140808605 [GRCh38]
Chr5:140188190 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.1144G>T (p.Gly382Trp) single nucleotide variant not specified [RCV004653124] Chr5:140822919 [GRCh38]
Chr5:140202504 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.2021C>G (p.Ala674Gly) single nucleotide variant not specified [RCV004653125] Chr5:140823796 [GRCh38]
Chr5:140203381 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1745C>G (p.Pro582Arg) single nucleotide variant not specified [RCV004653135] Chr5:140843066 [GRCh38]
Chr5:140222651 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1487A>G (p.Glu496Gly) single nucleotide variant not specified [RCV004653137] Chr5:140842808 [GRCh38]
Chr5:140222393 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.301G>A (p.Glu101Lys) single nucleotide variant not specified [RCV004653140] Chr5:140841622 [GRCh38]
Chr5:140221207 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1427C>T (p.Thr476Met) single nucleotide variant not specified [RCV004653143] Chr5:140849922 [GRCh38]
Chr5:140229507 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1864C>T (p.Arg622Cys) single nucleotide variant not specified [RCV004653148] Chr5:140928756 [GRCh38]
Chr5:140308341 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2428A>G (p.Asn810Asp) single nucleotide variant not specified [RCV004664376] Chr5:140969194 [GRCh38]
Chr5:140348779 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2394+48G>A single nucleotide variant not provided [RCV004575041] Chr5:140843763 [GRCh38]
Chr5:140223348 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.1924A>G (p.Ile642Val) single nucleotide variant not specified [RCV004664379] Chr5:140968690 [GRCh38]
Chr5:140348275 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2284G>A (p.Gly762Ser) single nucleotide variant not specified [RCV004653092] Chr5:140871387 [GRCh38]
Chr5:140250972 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.812A>C (p.Glu271Ala) single nucleotide variant not specified [RCV004653103] Chr5:140876284 [GRCh38]
Chr5:140255869 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1492T>G (p.Leu498Val) single nucleotide variant not specified [RCV004653085] Chr5:140857540 [GRCh38]
Chr5:140237125 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018901.4(PCDHA10):c.1600G>A (p.Val534Met) single nucleotide variant not specified [RCV004653087] Chr5:140857648 [GRCh38]
Chr5:140237233 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1759G>A (p.Gly587Ser) single nucleotide variant not specified [RCV004653089] Chr5:140857807 [GRCh38]
Chr5:140237392 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.361G>A (p.Val121Met) single nucleotide variant not specified [RCV004653091] Chr5:140869464 [GRCh38]
Chr5:140249049 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1411T>C (p.Cys471Arg) single nucleotide variant not specified [RCV004653093] Chr5:140870514 [GRCh38]
Chr5:140250099 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1218G>C (p.Leu406Phe) single nucleotide variant not specified [RCV004653096] Chr5:140870321 [GRCh38]
Chr5:140249906 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.565A>G (p.Ser189Gly) single nucleotide variant not specified [RCV004653099] Chr5:140876037 [GRCh38]
Chr5:140255622 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.968T>C (p.Ile323Thr) single nucleotide variant not specified [RCV004653101] Chr5:140876440 [GRCh38]
Chr5:140256025 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1097G>A (p.Gly366Asp) single nucleotide variant not specified [RCV004653121] Chr5:140808284 [GRCh38]
Chr5:140187869 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1882A>C (p.Thr628Pro) single nucleotide variant not specified [RCV004653120] Chr5:140809069 [GRCh38]
Chr5:140188654 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.2344T>A (p.Ser782Thr) single nucleotide variant not specified [RCV004653132] Chr5:140836727 [GRCh38]
Chr5:140216312 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.233A>G (p.Asn78Ser) single nucleotide variant not specified [RCV004653144] Chr5:140848728 [GRCh38]
Chr5:140228313 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.750G>T (p.Leu250Phe) single nucleotide variant not specified [RCV004653126] Chr5:140822525 [GRCh38]
Chr5:140202110 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1684G>A (p.Ala562Thr) single nucleotide variant not specified [RCV004653129] Chr5:140829775 [GRCh38]
Chr5:140209360 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1550T>A (p.Val517Glu) single nucleotide variant not specified [RCV004653145] Chr5:140850045 [GRCh38]
Chr5:140229630 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1763G>A (p.Gly588Asp) single nucleotide variant not specified [RCV004664330] Chr5:140877235 [GRCh38]
Chr5:140256820 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.1072C>T (p.Pro358Ser) single nucleotide variant not specified [RCV004664350] Chr5:140829163 [GRCh38]
Chr5:140208748 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.1285G>A (p.Gly429Arg) single nucleotide variant not specified [RCV004664321] Chr5:140857333 [GRCh38]
Chr5:140236918 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.569T>A (p.Ile190Lys) single nucleotide variant not specified [RCV004664329] Chr5:140876041 [GRCh38]
Chr5:140255626 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1273G>T (p.Val425Leu) single nucleotide variant not specified [RCV004664331] Chr5:140883541 [GRCh38]
Chr5:140263126 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.519T>G (p.Ser173Arg) single nucleotide variant not specified [RCV004664351] Chr5:140828610 [GRCh38]
Chr5:140208195 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1667T>C (p.Leu556Pro) single nucleotide variant not specified [RCV004664358] Chr5:140842988 [GRCh38]
Chr5:140222573 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.835T>G (p.Tyr279Asp) single nucleotide variant not specified [RCV004664360] Chr5:140842156 [GRCh38]
Chr5:140221741 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1733G>A (p.Ser578Asn) single nucleotide variant not specified [RCV004664362] Chr5:140843054 [GRCh38]
Chr5:140222639 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.239A>G (p.Gln80Arg) single nucleotide variant not specified [RCV004664364] Chr5:140848734 [GRCh38]
Chr5:140228319 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2054T>C (p.Val685Ala) single nucleotide variant not specified [RCV004664372] Chr5:140928946 [GRCh38]
Chr5:140308531 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.380G>A (p.Gly127Asp) single nucleotide variant not specified [RCV004664373] Chr5:140927272 [GRCh38]
Chr5:140306857 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.906C>G (p.Asp302Glu) single nucleotide variant not specified [RCV004664378] Chr5:140967672 [GRCh38]
Chr5:140347257 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1073C>A (p.Pro358His) single nucleotide variant not specified [RCV004664332] Chr5:140883341 [GRCh38]
Chr5:140262926 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1783C>A (p.Arg595Ser) single nucleotide variant not specified [RCV004664344] Chr5:140808970 [GRCh38]
Chr5:140188555 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.411A>C (p.Gln137His) single nucleotide variant not specified [RCV004664366] Chr5:140848906 [GRCh38]
Chr5:140228491 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.166C>G (p.Arg56Gly) single nucleotide variant not specified [RCV004664371] Chr5:140927058 [GRCh38]
Chr5:140306643 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1648G>T (p.Asp550Tyr) single nucleotide variant not specified [RCV004664374] Chr5:140928540 [GRCh38]
Chr5:140308125 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1396G>C (p.Glu466Gln) single nucleotide variant not specified [RCV004653097] Chr5:140876868 [GRCh38]
Chr5:140256453 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.940A>C (p.Lys314Gln) single nucleotide variant not specified [RCV004653122] Chr5:140808127 [GRCh38]
Chr5:140187712 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1615G>A (p.Asp539Asn) single nucleotide variant not specified [RCV004653131] Chr5:140835998 [GRCh38]
Chr5:140215583 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1441G>A (p.Asp481Asn) single nucleotide variant not specified [RCV004653133] Chr5:140835824 [GRCh38]
Chr5:140215409 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.727G>C (p.Glu243Gln) single nucleotide variant not specified [RCV004653138] Chr5:140842048 [GRCh38]
Chr5:140221633 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1028T>C (p.Leu343Pro) single nucleotide variant not specified [RCV004653150] Chr5:140927920 [GRCh38]
Chr5:140307505 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2285A>G (p.Asn762Ser) single nucleotide variant not specified [RCV004653152] Chr5:140969051 [GRCh38]
Chr5:140348636 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.96G>C (p.Leu32Phe) single nucleotide variant not specified [RCV004653153] Chr5:140966862 [GRCh38]
Chr5:140346447 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018901.4(PCDHA10):c.233T>C (p.Leu78Pro) single nucleotide variant not specified [RCV004664323] Chr5:140856281 [GRCh38]
Chr5:140235866 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.392C>T (p.Pro131Leu) single nucleotide variant not specified [RCV004664325] Chr5:140869495 [GRCh38]
Chr5:140249080 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1957G>T (p.Asp653Tyr) single nucleotide variant not specified [RCV004664335] Chr5:140884225 [GRCh38]
Chr5:140263810 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1969C>T (p.Pro657Ser) single nucleotide variant not specified [RCV004664345] Chr5:140809156 [GRCh38]
Chr5:140188741 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1075A>G (p.Ile359Val) single nucleotide variant not specified [RCV004664355] Chr5:140835458 [GRCh38]
Chr5:140215043 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.1625C>A (p.Pro542Gln) single nucleotide variant not specified [RCV004653094] Chr5:140870728 [GRCh38]
Chr5:140250313 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.219C>T (p.Asp73=) single nucleotide variant not provided [RCV004598732] Chr5:140848714 [GRCh38]
Chr5:140228299 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018910.3(PCDHA7):c.2293C>A (p.Pro765Thr) single nucleotide variant not specified [RCV004664357] Chr5:140836676 [GRCh38]
Chr5:140216261 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.2180C>T (p.Pro727Leu) single nucleotide variant not specified [RCV004664361] Chr5:140843501 [GRCh38]
Chr5:140223086 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.567T>A (p.Ser189Arg) single nucleotide variant not specified [RCV004653100] Chr5:140876039 [GRCh38]
Chr5:140255624 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.1678G>A (p.Asp560Asn) single nucleotide variant not specified [RCV004653115] Chr5:140808865 [GRCh38]
Chr5:140188450 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018907.4(PCDHA4):c.946T>C (p.Tyr316His) single nucleotide variant not specified [RCV004653118] Chr5:140808133 [GRCh38]
Chr5:140187718 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018908.3(PCDHA5):c.137G>T (p.Arg46Leu) single nucleotide variant not specified [RCV004653127] Chr5:140821912 [GRCh38]
Chr5:140201497 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.908T>A (p.Val303Glu) single nucleotide variant not specified [RCV004653128] Chr5:140828999 [GRCh38]
Chr5:140208584 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018911.3(PCDHA8):c.1730C>G (p.Ala577Gly) single nucleotide variant not specified [RCV004653139] Chr5:140843051 [GRCh38]
Chr5:140222636 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_031857.2(PCDHA9):c.1919C>T (p.Thr640Met) single nucleotide variant not specified [RCV004653142] Chr5:140850414 [GRCh38]
Chr5:140229999 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2452G>A (p.Gly818Arg) single nucleotide variant not specified [RCV004664377] Chr5:140969218 [GRCh38]
Chr5:140348803 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.611A>C (p.Gln204Pro) single nucleotide variant PCDHA12-related condition [RCV004732226] Chr5:140876083 [GRCh38]
Chr5:140255668 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018910.3(PCDHA7):c.1508C>T (p.Ala503Val) single nucleotide variant not specified [RCV004505336] Chr5:140835891 [GRCh38]
Chr5:140215476 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018909.4(PCDHA6):c.925G>C (p.Asp309His) single nucleotide variant not specified [RCV004505333] Chr5:140829016 [GRCh38]
Chr5:140208601 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018910.3(PCDHA7):c.1147G>C (p.Gly383Arg) single nucleotide variant not specified [RCV004505334] Chr5:140835530 [GRCh38]
Chr5:140215115 [GRCh37]
Chr5:5q31.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2070
Count of miRNA genes:719
Interacting mature miRNAs:864
Transcripts:ENST00000356878, ENST00000512229, ENST00000530339
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407143812GWAS792788_Hdepressive symptom measurement QTL GWAS792788 (human)1e-08depressive symptom measurement5140832953140832954Human
407245127GWAS894103_Hsystolic blood pressure QTL GWAS894103 (human)2e-12systolic blood pressuresystolic blood pressure (CMO:0000004)5140807737140807738Human
407154759GWAS803735_HAlzheimer disease, gastroesophageal reflux disease QTL GWAS803735 (human)0.000003Alzheimer disease, gastroesophageal reflux disease5140811721140811722Human
407219202GWAS868178_Hschizophrenia QTL GWAS868178 (human)5e-10schizophrenia5140954367140954368Human
407230156GWAS879132_Hsystolic blood pressure QTL GWAS879132 (human)2e-10systolic blood pressuresystolic blood pressure (CMO:0000004)5140807737140807738Human
406956557GWAS605533_Hunipolar depression QTL GWAS605533 (human)1e-09depressive symptom measurement5140832953140832954Human
407245130GWAS894106_Hsystolic blood pressure QTL GWAS894106 (human)1e-11systolic blood pressuresystolic blood pressure (CMO:0000004)5140928384140928385Human
407242007GWAS890983_Hpulse pressure measurement QTL GWAS890983 (human)2e-12pulse pressure measurementpulse pressure (CMO:0000292)5140928384140928385Human
407242005GWAS890981_Hpulse pressure measurement QTL GWAS890981 (human)6e-13pulse pressure measurementpulse pressure (CMO:0000292)5140807737140807738Human
1357314AASTH54_HAllergic/atopic asthma related QTL 54 (human)3.560.0003Reversible airflow obstructiontotal serum IgE5135892246150155845Human
407219229GWAS868205_Hinsomnia QTL GWAS868205 (human)5e-08insomnia5140862894140862895Human
407377234GWAS1026210_Hunipolar depression QTL GWAS1026210 (human)1e-08unipolar depression5140833925140833926Human
407230431GWAS879407_Hsystolic blood pressure QTL GWAS879407 (human)3e-09systolic blood pressuresystolic blood pressure (CMO:0000004)5140928384140928385Human
406892701GWAS541677_HAbnormality of refraction QTL GWAS541677 (human)2e-14Abnormality of refraction5140937786140937787Human
406986535GWAS635511_Hvisceral adipose tissue measurement, body mass index QTL GWAS635511 (human)0.000003visceral adipose tissue measurement, body mass indexbody mass index (BMI) (CMO:0000105)5140992637140992638Human
407370081GWAS1019057_Hmajor depressive disorder QTL GWAS1019057 (human)3e-09major depressive disorder5140833925140833926Human
407226915GWAS875891_Hpulse pressure measurement QTL GWAS875891 (human)6e-10pulse pressure measurementpulse pressure (CMO:0000292)5140928384140928385Human
407031722GWAS680698_Hunipolar depression QTL GWAS680698 (human)1e-09unipolar depression5140834211140834212Human
407179564GWAS828540_Hunipolar depression QTL GWAS828540 (human)9e-08unipolar depression5140832953140832954Human
407127406GWAS776382_Hintelligence QTL GWAS776382 (human)0.000008intelligence5140827159140827160Human
407226920GWAS875896_Hpulse pressure measurement QTL GWAS875896 (human)2e-11pulse pressure measurementpulse pressure (CMO:0000292)5140807737140807738Human
407172598GWAS821574_Hdepressive symptom measurement QTL GWAS821574 (human)1e-08depressive symptom measurement5140811658140811659Human
407359089GWAS1008065_Hunipolar depression QTL GWAS1008065 (human)9e-25unipolar depression5140833925140833926Human
407209523GWAS858499_H1,5 anhydroglucitol measurement QTL GWAS858499 (human)0.0000041,5 anhydroglucitol measurement5140929096140929097Human
406985401GWAS634377_Hintelligence QTL GWAS634377 (human)8e-09intelligence5140861442140861443Human
407166584GWAS815560_Hneutrophil count, basophil count QTL GWAS815560 (human)4e-09basophil quantity (VT:0002607)blood basophil count (CMO:0000034)5140904631140904632Human
407204857GWAS853833_Hvital capacity QTL GWAS853833 (human)7e-10vital capacity5140937818140937819Human

Markers in Region
D5S658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,372,916 - 140,373,189UniSTSGRCh37
Build 365140,353,100 - 140,353,373RGDNCBI36
Celera5136,449,700 - 136,449,973RGD
Cytogenetic Map5q31UniSTS
HuRef5135,517,629 - 135,517,894UniSTS
Marshfield Genetic Map5142.92RGD
Marshfield Genetic Map5142.92UniSTS
Genethon Genetic Map5142.6UniSTS
Whitehead-RH Map5441.7UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5889.1UniSTS
RH91795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,389,215 - 140,389,359UniSTSGRCh37
Build 365140,369,399 - 140,369,543RGDNCBI36
Celera5136,465,994 - 136,466,138RGD
Cytogenetic Map5q31UniSTS
HuRef5135,533,914 - 135,534,058UniSTS
GeneMap99-GB4 RH Map5530.5UniSTS
RH122893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,344,075 - 140,344,397UniSTSGRCh37
Build 365140,324,259 - 140,324,581RGDNCBI36
Celera5136,420,859 - 136,421,181RGD
Cytogenetic Map5q31UniSTS
HuRef5135,488,790 - 135,489,112UniSTS
TNG Radiation Hybrid Map565054.0UniSTS
RH118816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,365,779 - 140,366,073UniSTSGRCh37
Build 365140,345,963 - 140,346,257RGDNCBI36
Celera5136,442,563 - 136,442,857RGD
Cytogenetic Map5q31UniSTS
HuRef5135,510,494 - 135,510,788UniSTS
TNG Radiation Hybrid Map565069.0UniSTS
D5S546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,240,136 - 140,240,231UniSTSGRCh37
Build 365140,220,320 - 140,220,415RGDNCBI36
Celera5136,316,944 - 136,317,039RGD
Cytogenetic Map5q31UniSTS
HuRef5135,384,875 - 135,384,970UniSTS
D5S1683E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,390,021 - 140,390,212UniSTSGRCh37
Build 365140,370,205 - 140,370,396RGDNCBI36
Celera5136,466,800 - 136,466,991RGD
Cytogenetic Map5q31UniSTS
HuRef5135,534,720 - 135,534,911UniSTS
SHGC-150174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,372,907 - 140,373,191UniSTSGRCh37
Build 365140,353,091 - 140,353,375RGDNCBI36
Celera5136,449,691 - 136,449,975RGD
Cytogenetic Map5q31UniSTS
HuRef5135,517,620 - 135,517,896UniSTS
TNG Radiation Hybrid Map565089.0UniSTS
TNG Radiation Hybrid Map174062.0UniSTS
bac5366T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,362,911 - 140,363,118UniSTSGRCh37
Build 365140,343,095 - 140,343,302RGDNCBI36
Celera5136,439,695 - 136,439,902RGD
Cytogenetic Map5q31UniSTS
HuRef5135,507,626 - 135,507,833UniSTS
bac5373T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,363,259 - 140,363,393UniSTSGRCh37
Build 365140,343,443 - 140,343,577RGDNCBI36
Celera5136,440,043 - 136,440,177RGD
Cytogenetic Map5q31UniSTS
HuRef5135,507,974 - 135,508,108UniSTS
PMC311048P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,362,060 - 140,362,148UniSTSGRCh37
Build 365140,342,244 - 140,342,332RGDNCBI36
Celera5136,438,844 - 136,438,932RGD
HuRef5135,506,775 - 135,506,863UniSTS
PCDHA4_1031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,390,470 - 140,391,194UniSTSGRCh37
Build 365140,370,654 - 140,371,378RGDNCBI36
Celera5136,467,249 - 136,467,973RGD
HuRef5135,535,169 - 135,535,893UniSTS
A004B11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,307,787 - 140,307,943UniSTSGRCh37
Build 365140,287,971 - 140,288,127RGDNCBI36
Celera5136,384,600 - 136,384,756RGD
Cytogenetic Map5q31UniSTS
HuRef5135,452,522 - 135,452,678UniSTS
GeneMap99-GB4 RH Map5531.62UniSTS
NCBI RH Map5889.1UniSTS
RH15971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,390,200 - 140,390,359UniSTSGRCh37
Build 365140,370,384 - 140,370,543RGDNCBI36
Celera5136,466,979 - 136,467,138RGD
Cytogenetic Map5q31UniSTS
HuRef5135,534,899 - 135,535,058UniSTS
GeneMap99-GB4 RH Map5531.42UniSTS
NCBI RH Map5889.1UniSTS
IB766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,391,639 - 140,391,867UniSTSGRCh37
Build 365140,371,823 - 140,372,051RGDNCBI36
Celera5136,468,418 - 136,468,646RGD
Cytogenetic Map5q31UniSTS
HuRef5135,536,338 - 135,536,566UniSTS
GeneMap99-GB4 RH Map5531.42UniSTS
Whitehead-RH Map5441.7UniSTS
NCBI RH Map5889.1UniSTS
WI-19540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,391,613 - 140,391,874UniSTSGRCh37
Build 365140,371,797 - 140,372,058RGDNCBI36
Celera5136,468,392 - 136,468,653RGD
Cytogenetic Map5q31UniSTS
HuRef5135,536,312 - 135,536,573UniSTS
GeneMap99-GB4 RH Map5531.72UniSTS
Whitehead-RH Map5441.7UniSTS
NCBI RH Map5889.1UniSTS
RH65516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,390,919 - 140,391,093UniSTSGRCh37
Build 365140,371,103 - 140,371,277RGDNCBI36
Celera5136,467,698 - 136,467,872RGD
Cytogenetic Map5q31UniSTS
HuRef5135,535,618 - 135,535,792UniSTS
GeneMap99-GB4 RH Map5527.13UniSTS
NCBI RH Map5889.1UniSTS
PCDHA9_3148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,232,949 - 140,233,427UniSTSGRCh37
Build 365140,213,133 - 140,213,611RGDNCBI36
Celera5136,309,754 - 136,310,232RGD
HuRef5135,377,685 - 135,378,163UniSTS
PCDHAC1__5835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,308,699 - 140,309,481UniSTSGRCh37
Build 365140,288,883 - 140,289,665RGDNCBI36
Celera5136,385,512 - 136,386,294RGD
HuRef5135,453,434 - 135,454,216UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1193 2360 2463 2049 4855 1396 2035 5 360 918 207 2207 5368 5136 48 3712 1 774 1690 1564 168 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_000016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_050675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_050677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW161561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000378125   ⟹   ENSP00000367365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,806,929 - 140,809,518 (+)Ensembl
Ensembl Acc Id: ENST00000512229   ⟹   ENSP00000423470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,807,074 - 141,011,579 (+)Ensembl
Ensembl Acc Id: ENST00000530339   ⟹   ENSP00000435300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,807,068 - 141,012,347 (+)Ensembl
Ensembl Acc Id: ENST00000618834   ⟹   ENSP00000481220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,807,037 - 140,817,593 (+)Ensembl
Ensembl Acc Id: ENST00000672575   ⟹   ENSP00000500758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,807,081 - 140,817,546 (+)Ensembl
RefSeq Acc Id: NM_018907   ⟹   NP_061730
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,807,068 - 141,012,347 (+)NCBI
GRCh375140,186,672 - 140,391,929 (+)RGD
Build 365140,166,856 - 140,372,113 (+)NCBI Archive
Celera5136,263,450 - 136,468,708 (+)RGD
HuRef5135,331,374 - 135,536,628 (+)NCBI
CHM1_15139,619,851 - 139,825,092 (+)NCBI
T2T-CHM13v2.05141,332,401 - 141,537,634 (+)NCBI
Sequence:
RefSeq Acc Id: NM_031500   ⟹   NP_113688
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,807,068 - 140,817,593 (+)NCBI
GRCh375140,186,672 - 140,391,929 (+)RGD
Build 365140,166,856 - 140,169,353 (+)NCBI Archive
Celera5136,263,450 - 136,468,708 (+)RGD
HuRef5135,331,374 - 135,536,628 (+)NCBI
CHM1_15139,619,851 - 139,622,444 (+)NCBI
T2T-CHM13v2.05141,332,401 - 141,342,927 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061730   ⟸   NM_018907
- Peptide Label: isoform 1 precursor
- UniProtKB: O75285 (UniProtKB/Swiss-Prot),   Q2M253 (UniProtKB/Swiss-Prot),   Q9UN74 (UniProtKB/Swiss-Prot),   D6RA20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_113688   ⟸   NM_031500
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A5F9ZHY0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000435300   ⟸   ENST00000530339
Ensembl Acc Id: ENSP00000367365   ⟸   ENST00000378125
Ensembl Acc Id: ENSP00000481220   ⟸   ENST00000618834
Ensembl Acc Id: ENSP00000423470   ⟸   ENST00000512229
Ensembl Acc Id: ENSP00000500758   ⟸   ENST00000672575
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UN74-F1-model_v2 AlphaFold Q9UN74 1-947 view protein structure

Promoters
RGD ID:6870866
Promoter ID:EPDNEW_H8598
Type:initiation region
Name:PCDHA4_1
Description:protocadherin alpha 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8599  EPDNEW_H8600  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,807,072 - 140,807,132EPDNEW
RGD ID:6870870
Promoter ID:EPDNEW_H8599
Type:initiation region
Name:PCDHA4_3
Description:protocadherin alpha 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8598  EPDNEW_H8600  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,808,461 - 140,808,521EPDNEW
RGD ID:6870872
Promoter ID:EPDNEW_H8600
Type:multiple initiation site
Name:PCDHA4_2
Description:protocadherin alpha 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8598  EPDNEW_H8599  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,808,870 - 140,808,930EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8670 AgrOrtholog
COSMIC PCDHA4 COSMIC
Ensembl Genes ENSG00000204967 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291652 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000512229.6 UniProtKB/TrEMBL
  ENST00000530339 ENTREZGENE
  ENST00000530339.2 UniProtKB/Swiss-Prot
  ENST00000618834 ENTREZGENE
  ENST00000618834.1 UniProtKB/Swiss-Prot
  ENST00000672575.1 UniProtKB/TrEMBL
  ENST00000708293.1 UniProtKB/TrEMBL
  ENST00000708294.1 UniProtKB/Swiss-Prot
  ENST00000708295.1 UniProtKB/Swiss-Prot
  ENST00000708296.1 UniProtKB/TrEMBL
  ENST00000708297.1 UniProtKB/TrEMBL
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204967 GTEx
  ENSG00000291652 GTEx
HGNC ID HGNC:8670 ENTREZGENE
Human Proteome Map PCDHA4 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protocadherin/Cadherin-CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56144 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56144 ENTREZGENE
OMIM 606310 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTOCADHERIN ALPHA-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33016 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZHY0 ENTREZGENE, UniProtKB/TrEMBL
  A0AAG2UV88_HUMAN UniProtKB/TrEMBL
  D6RA20 ENTREZGENE, UniProtKB/TrEMBL
  O75285 ENTREZGENE
  PCDA4_HUMAN UniProtKB/Swiss-Prot
  Q2M253 ENTREZGENE
  Q59H34_HUMAN UniProtKB/TrEMBL
  Q9UN74 ENTREZGENE
UniProt Secondary O75285 UniProtKB/Swiss-Prot
  Q2M253 UniProtKB/Swiss-Prot