PCDHA@ (protocadherin alpha cluster, complex locus) - Rat Genome Database

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Gene: PCDHA@ (protocadherin alpha cluster, complex locus) Homo sapiens
Analyze
Symbol: PCDHA@
Name: protocadherin alpha cluster, complex locus
RGD ID: 1353159
HGNC Page HGNC:8662
Description: The protocadherin alpha gene cluster is one of three related clusters tandemly linked on chromosome five. The clusters have a genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 genes and 1 pseudogene, which are members of the cadherin superfamily and related to the mouse CNR genes. The sequence of the 13 upstream genes and the pseudogene are highly similar to one another, while a subfamily (C) contains two more distantly related coding sequences. The alpha cluster genes are organized in a tandem array of 15 large, variable region exons followed by a constant region, which contains 3 exons shared by all genes in the cluster. Each variable region exon encodes an extracellular domain comprised of 6 cadherin ectodomains and a transmembrane region. The constant region exons encode a common cytoplasmic tail. These neural adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the alpha cluster genes. [provided by RefSeq, Jul 2008]
Type: gene
RefSeq Status: REVIEWED
Previously known as: CNR1; CNRS1; protocadherin alpha cluster
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385140,786,136 - 141,012,344 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375140,165,721 - 140,391,929 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,146,060 - 140,372,113 (+)NCBINCBI36Build 36hg18NCBI36
Celera5136,242,652 - 136,468,708 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,311,159 - 135,536,628 (+)NCBIHuRef
CHM1_15139,599,068 - 139,825,092 (+)NCBICHM1_1
T2T-CHM13v2.05141,311,469 - 141,537,631 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:10380929   PMID:10662547   PMID:10716726   PMID:10817752   PMID:10835267   PMID:11140838   PMID:11230163   PMID:19054571   PMID:19956686   PMID:23031252   PMID:34257739   PMID:36036911  


Genomics

Variants

.
Variants in PCDHA@
602 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_018900.3(PCDHA1):c.949G>A (p.Glu317Lys) single nucleotide variant Malignant melanoma [RCV000061127] Chr5:140787239 [GRCh38]
Chr5:140166824 [GRCh37]
Chr5:140147008 [NCBI36]
Chr5:5q31.3
not provided
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_018900.3(PCDHA1):c.1315G>A (p.Ala439Thr) single nucleotide variant Malignant melanoma [RCV000066667] Chr5:140787605 [GRCh38]
Chr5:140167190 [GRCh37]
Chr5:140147374 [NCBI36]
Chr5:5q31.3
not provided
NM_018905.2(PCDHA2):c.1823C>T (p.Ser608Leu) single nucleotide variant Malignant melanoma [RCV000066668] Chr5:140796787 [GRCh38]
Chr5:140176372 [GRCh37]
Chr5:140156556 [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.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_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_018906.3(PCDHA3):c.1750T>C (p.Ser584Pro) single nucleotide variant Variant of unknown significance [RCV000034872] Chr5:140802947 [GRCh38]
Chr5:140182532 [GRCh37]
Chr5:5q31.3
uncertain significance
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_018905.3(PCDHA2):c.1010C>A (p.Ser337Ter) single nucleotide variant not provided [RCV000122559] Chr5:140795974 [GRCh38]
Chr5:140175559 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1930C>T (p.Arg644Cys) single nucleotide variant not provided [RCV000122560] Chr5:140803127 [GRCh38]
Chr5:140182712 [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_018905.3(PCDHA2):c.2085T>G (p.Asp695Glu) single nucleotide variant Inborn genetic diseases [RCV003243890] Chr5:140797049 [GRCh38]
Chr5:140176634 [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
NM_018911.3(PCDHA8):c.1853C>T (p.Pro618Leu) single nucleotide variant Inborn genetic diseases [RCV003268172] Chr5:140843174 [GRCh38]
Chr5:140222759 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1726G>T (p.Ala576Ser) single nucleotide variant Inborn genetic diseases [RCV003311408] Chr5:140796690 [GRCh38]
Chr5:140176275 [GRCh37]
Chr5:5q31.3
uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
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] 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_018903.4(PCDHA12):c.210A>C (p.Arg70Ser) single nucleotide variant Inborn genetic diseases [RCV003276203] Chr5:140875682 [GRCh38]
Chr5:140255267 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1739T>C (p.Leu580Pro) single nucleotide variant Inborn genetic diseases [RCV003254125] Chr5:140836122 [GRCh38]
Chr5:140215707 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1337C>G (p.Ala446Gly) single nucleotide variant Inborn genetic diseases [RCV003255685] Chr5:140883605 [GRCh38]
Chr5:140263190 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1553A>T (p.Tyr518Phe) single nucleotide variant Inborn genetic diseases [RCV003255732] Chr5:140883821 [GRCh38]
Chr5:140263406 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.335C>T (p.Pro112Leu) single nucleotide variant Inborn genetic diseases [RCV003259199] Chr5:140822110 [GRCh38]
Chr5:140201695 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.128C>A (p.Thr43Asn) single nucleotide variant Inborn genetic diseases [RCV003299136] Chr5:140848623 [GRCh38]
Chr5:140228208 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1255T>G (p.Ser419Ala) single nucleotide variant Inborn genetic diseases [RCV003288832] Chr5:140883523 [GRCh38]
Chr5:140263108 [GRCh37]
Chr5:5q31.3
likely benign
NM_018910.3(PCDHA7):c.867A>G (p.Ile289Met) single nucleotide variant Inborn genetic diseases [RCV003296001] Chr5:140835250 [GRCh38]
Chr5:140214835 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.123C>A (p.His41Gln) single nucleotide variant Inborn genetic diseases [RCV003277682] Chr5:140841444 [GRCh38]
Chr5:140221029 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.119A>C (p.Lys40Thr) single nucleotide variant Inborn genetic diseases [RCV003253837] Chr5:140828210 [GRCh38]
Chr5:140207795 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1330G>C (p.Glu444Gln) single nucleotide variant Inborn genetic diseases [RCV003299308] Chr5:140796294 [GRCh38]
Chr5:140175879 [GRCh37]
Chr5:5q31.3
likely benign
NM_018907.4(PCDHA4):c.145G>T (p.Ala49Ser) single nucleotide variant Inborn genetic diseases [RCV003254854] Chr5:140807332 [GRCh38]
Chr5:140186917 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.2038T>A (p.Ser680Thr) single nucleotide variant Inborn genetic diseases [RCV003249840] Chr5:140830129 [GRCh38]
Chr5:140209714 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.2088C>A (p.Asn696Lys) single nucleotide variant Inborn genetic diseases [RCV003287806] Chr5:140823863 [GRCh38]
Chr5:140203448 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1316C>T (p.Ala439Val) single nucleotide variant Inborn genetic diseases [RCV003284642] Chr5:140842637 [GRCh38]
Chr5:140222222 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1709T>C (p.Val570Ala) single nucleotide variant Inborn genetic diseases [RCV003253015] Chr5:140787999 [GRCh38]
Chr5:140167584 [GRCh37]
Chr5:5q31.3
likely benign
NM_018908.3(PCDHA5):c.208C>G (p.Arg70Gly) single nucleotide variant Inborn genetic diseases [RCV003302408] Chr5:140821983 [GRCh38]
Chr5:140201568 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1390G>A (p.Val464Met) single nucleotide variant Inborn genetic diseases [RCV003300799] Chr5:140829481 [GRCh38]
Chr5:140209066 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1073C>T (p.Pro358Leu) single nucleotide variant Inborn genetic diseases [RCV003285971] Chr5:140787363 [GRCh38]
Chr5:140166948 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1942G>C (p.Val648Leu) single nucleotide variant Inborn genetic diseases [RCV003287280] Chr5:140857990 [GRCh38]
Chr5:140237575 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.2048C>G (p.Ser683Trp) single nucleotide variant Inborn genetic diseases [RCV003287281] Chr5:140884316 [GRCh38]
Chr5:140263901 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.337C>G (p.Pro113Ala) single nucleotide variant Inborn genetic diseases [RCV003263282] Chr5:140848832 [GRCh38]
Chr5:140228417 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.346G>T (p.Val116Phe) single nucleotide variant Inborn genetic diseases [RCV003248648] Chr5:140828437 [GRCh38]
Chr5:140208022 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1868G>A (p.Arg623His) single nucleotide variant Inborn genetic diseases [RCV003242149] Chr5:140796832 [GRCh38]
Chr5:140176417 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.403A>G (p.Met135Val) single nucleotide variant Inborn genetic diseases [RCV003282425] Chr5:140795367 [GRCh38]
Chr5:140174952 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1112T>G (p.Leu371Arg) single nucleotide variant Inborn genetic diseases [RCV003263550] Chr5:140829203 [GRCh38]
Chr5:140208788 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1256C>T (p.Ala419Val) single nucleotide variant Inborn genetic diseases [RCV003257182] Chr5:140857304 [GRCh38]
Chr5:140236889 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1973C>T (p.Ala658Val) single nucleotide variant Inborn genetic diseases [RCV003270703] Chr5:140877445 [GRCh38]
Chr5:140257030 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1671C>A (p.Asp557Glu) single nucleotide variant Inborn genetic diseases [RCV003270736] Chr5:140836054 [GRCh38]
Chr5:140215639 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1574A>G (p.His525Arg) single nucleotide variant Inborn genetic diseases [RCV003288828] Chr5:140877046 [GRCh38]
Chr5:140256631 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.193G>A (p.Val65Met) single nucleotide variant Inborn genetic diseases [RCV003288835] Chr5:140821968 [GRCh38]
Chr5:140201553 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1505A>G (p.His502Arg) single nucleotide variant Inborn genetic diseases [RCV003255726] Chr5:140876977 [GRCh38]
Chr5:140256562 [GRCh37]
Chr5:5q31.3
likely benign
NM_018903.4(PCDHA12):c.208A>G (p.Arg70Gly) single nucleotide variant Inborn genetic diseases [RCV003255728] Chr5:140875680 [GRCh38]
Chr5:140255265 [GRCh37]
Chr5:5q31.3
likely benign
NM_018903.4(PCDHA12):c.211C>G (p.His71Asp) single nucleotide variant Inborn genetic diseases [RCV003255729] Chr5:140875683 [GRCh38]
Chr5:140255268 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.271G>C (p.Asp91His) single nucleotide variant Inborn genetic diseases [RCV003268937] Chr5:140828362 [GRCh38]
Chr5:140207947 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.128C>A (p.Thr43Asn) single nucleotide variant Inborn genetic diseases [RCV003254625] Chr5:140882396 [GRCh38]
Chr5:140261981 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1463T>G (p.Leu488Arg) single nucleotide variant Inborn genetic diseases [RCV003276199] Chr5:140870566 [GRCh38]
Chr5:140250151 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.212A>G (p.His71Arg) single nucleotide variant Inborn genetic diseases [RCV003276204] Chr5:140875684 [GRCh38]
Chr5:140255269 [GRCh37]
Chr5:5q31.3
likely benign
NM_018908.3(PCDHA5):c.1598A>G (p.Gln533Arg) single nucleotide variant Inborn genetic diseases [RCV003276207] Chr5:140823373 [GRCh38]
Chr5:140202958 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1372C>A (p.Pro458Thr) single nucleotide variant Inborn genetic diseases [RCV003296320] Chr5:140876844 [GRCh38]
Chr5:140256429 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1796C>A (p.Ala599Asp) single nucleotide variant Inborn genetic diseases [RCV003249607] Chr5:140843117 [GRCh38]
Chr5:140222702 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1208T>A (p.Leu403Gln) single nucleotide variant Inborn genetic diseases [RCV003272794] Chr5:140928100 [GRCh38]
Chr5:140307685 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.701A>G (p.Asp234Gly) single nucleotide variant Inborn genetic diseases [RCV003291189] Chr5:140828792 [GRCh38]
Chr5:140208377 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.484G>T (p.Val162Phe) single nucleotide variant Inborn genetic diseases [RCV003255214] Chr5:140828575 [GRCh38]
Chr5:140208160 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1859C>G (p.Pro620Arg) single nucleotide variant Inborn genetic diseases [RCV003266857] 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(chr5:140115433-140264271)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(chr5:140162610-140282431)x1 copy number loss not provided [RCV000745207] Chr5:140162610..140282431 [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_018900.4(PCDHA1):c.51G>T (p.Trp17Cys) single nucleotide variant Inborn genetic diseases [RCV003244586] Chr5:140786341 [GRCh38]
Chr5:140165926 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1738C>G (p.Leu580Val) single nucleotide variant Inborn genetic diseases [RCV003267148] Chr5:140796702 [GRCh38]
Chr5:140176287 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1503G>C (p.Glu501Asp) single nucleotide variant Inborn genetic diseases [RCV003268760] Chr5:140876975 [GRCh38]
Chr5:140256560 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.2198C>A (p.Ala733Glu) single nucleotide variant Inborn genetic diseases [RCV003268936] Chr5:140797162 [GRCh38]
Chr5:140176747 [GRCh37]
Chr5:5q31.3
uncertain significance
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_018906.3(PCDHA3):c.2037G>T (p.Ser679=) single nucleotide variant not provided [RCV000949503] Chr5:140803234 [GRCh38]
Chr5:140182819 [GRCh37]
Chr5:5q31.3
benign
NM_018899.6(PCDHAC2):c.2841C>A (p.Ile947=) single nucleotide variant not provided [RCV000881803] Chr5:141009754 [GRCh38]
Chr5:140389339 [GRCh37]
Chr5:5q31.3
likely benign
NM_018902.5(PCDHA11):c.982C>T (p.Pro328Ser) single nucleotide variant Inborn genetic diseases [RCV003310693] Chr5:140870085 [GRCh38]
Chr5:140249670 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1937G>T (p.Arg646Leu) single nucleotide variant Inborn genetic diseases [RCV003246571] Chr5:140850432 [GRCh38]
Chr5:140230017 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.357G>A (p.Val119=) single nucleotide variant not provided [RCV000905370] Chr5:140786647 [GRCh38]
Chr5:140166232 [GRCh37]
Chr5:5q31.3
benign
NM_018903.4(PCDHA12):c.2492C>G (p.Pro831Arg) single nucleotide variant not provided [RCV000950135] Chr5:140982540 [GRCh38]
Chr5:140362125 [GRCh37]
Chr5:5q31.3
benign|likely benign
NM_018911.3(PCDHA8):c.2197C>G (p.Arg733Gly) single nucleotide variant Inborn genetic diseases [RCV003244025] Chr5:140843518 [GRCh38]
Chr5:140223103 [GRCh37]
Chr5:5q31.3
likely benign
NM_018904.3(PCDHA13):c.1331G>A (p.Gly444Glu) single nucleotide variant Inborn genetic diseases [RCV003288833] Chr5:140883599 [GRCh38]
Chr5:140263184 [GRCh37]
Chr5:5q31.3
likely benign
NM_018900.4(PCDHA1):c.296G>C (p.Ser99Thr) single nucleotide variant Inborn genetic diseases [RCV003270563] Chr5:140786586 [GRCh38]
Chr5:140166171 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1308G>C (p.Trp436Cys) single nucleotide variant Inborn genetic diseases [RCV003248245] Chr5:140808495 [GRCh38]
Chr5:140188080 [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_018903.4(PCDHA12):c.1546A>C (p.Lys516Gln) single nucleotide variant Inborn genetic diseases [RCV003288827] Chr5:140877018 [GRCh38]
Chr5:140256603 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1231A>G (p.Ser411Gly) single nucleotide variant Inborn genetic diseases [RCV003288830] Chr5:140883499 [GRCh38]
Chr5:140263084 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1924G>A (p.Ala642Thr) single nucleotide variant Inborn genetic diseases [RCV003251159] Chr5:140836307 [GRCh38]
Chr5:140215892 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1601A>G (p.Gln534Arg) single nucleotide variant Inborn genetic diseases [RCV003288829] Chr5:140877073 [GRCh38]
Chr5:140256658 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1439A>G (p.Gln480Arg) single nucleotide variant Inborn genetic diseases [RCV003288834] Chr5:140883707 [GRCh38]
Chr5:140263292 [GRCh37]
Chr5:5q31.3
likely benign
NM_018903.4(PCDHA12):c.1495G>T (p.Val499Leu) single nucleotide variant Inborn genetic diseases [RCV003268759] Chr5:140876967 [GRCh38]
Chr5:140256552 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.344A>C (p.Gln115Pro) single nucleotide variant Inborn genetic diseases [RCV003272570] Chr5:140875816 [GRCh38]
Chr5:140255401 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.804T>A (p.Asp268Glu) single nucleotide variant Inborn genetic diseases [RCV003272781] Chr5:140883072 [GRCh38]
Chr5:140262657 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.455T>G (p.Phe152Cys) single nucleotide variant Inborn genetic diseases [RCV003250240] Chr5:140841776 [GRCh38]
Chr5:140221361 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.380A>G (p.Asp127Gly) single nucleotide variant Inborn genetic diseases [RCV003274529] Chr5:140856428 [GRCh38]
Chr5:140236013 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1677C>G (p.Asn559Lys) single nucleotide variant Inborn genetic diseases [RCV003275377] Chr5:140877149 [GRCh38]
Chr5:140256734 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.170C>A (p.Ala57Glu) single nucleotide variant Inborn genetic diseases [RCV003240371] Chr5:140841491 [GRCh38]
Chr5:140221076 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1459G>A (p.Val487Ile) single nucleotide variant Inborn genetic diseases [RCV003275468] 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_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_018903.4(PCDHA12):c.1471T>G (p.Ser491Ala) single nucleotide variant Inborn genetic diseases [RCV003276202] Chr5:140876943 [GRCh38]
Chr5:140256528 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1471T>G (p.Ser491Ala) single nucleotide variant Inborn genetic diseases [RCV003276206] Chr5:140883739 [GRCh38]
Chr5:140263324 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1468T>G (p.Ser490Ala) single nucleotide variant Inborn genetic diseases [RCV003276200] Chr5:140870571 [GRCh38]
Chr5:140250156 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1613A>G (p.Asp538Gly) single nucleotide variant Inborn genetic diseases [RCV003294749] Chr5:140870716 [GRCh38]
Chr5:140250301 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.-62_2388+204del 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_018900.4(PCDHA1):c.2394+69786T>C single nucleotide variant not provided [RCV001710086] Chr5:140858470 [GRCh38]
Chr5:140238055 [GRCh37]
Chr5:5q31.3
benign
NM_031857.2(PCDHA9):c.1320G>C (p.Arg440Ser) single nucleotide variant Inborn genetic diseases [RCV003241932] Chr5:140849815 [GRCh38]
Chr5:140229400 [GRCh37]
Chr5:5q31.3
likely benign
NM_018900.4(PCDHA1):c.1408C>T (p.Pro470Ser) single nucleotide variant Inborn genetic diseases [RCV003293771] Chr5:140787698 [GRCh38]
Chr5:140167283 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.968A>G (p.Asp323Gly) single nucleotide variant Inborn genetic diseases [RCV003293573] Chr5:140870071 [GRCh38]
Chr5:140249656 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1438G>A (p.Gly480Arg) single nucleotide variant Inborn genetic diseases [RCV003295405] 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_018906.3(PCDHA3):c.1379A>G (p.Tyr460Cys) single nucleotide variant Inborn genetic diseases [RCV003198589] Chr5:140802576 [GRCh38]
Chr5:140182161 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.2023G>C (p.Ala675Pro) single nucleotide variant Inborn genetic diseases [RCV003198269] Chr5:140843344 [GRCh38]
Chr5:140222929 [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 Inborn genetic diseases [RCV003276201] Chr5:140870653 [GRCh38]
Chr5:140250238 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1444G>C (p.Ala482Pro) single nucleotide variant Inborn genetic diseases [RCV003276367] Chr5:140883712 [GRCh38]
Chr5:140263297 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1500C>G (p.Asp500Glu) single nucleotide variant Inborn genetic diseases [RCV003255722] Chr5:140870603 [GRCh38]
Chr5:140250188 [GRCh37]
Chr5:5q31.3
likely benign
NM_031857.2(PCDHA9):c.299C>T (p.Ala100Val) single nucleotide variant Inborn genetic diseases [RCV003255735] Chr5:140848794 [GRCh38]
Chr5:140228379 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1543A>C (p.Lys515Gln) single nucleotide variant Inborn genetic diseases [RCV003255723] Chr5:140870646 [GRCh38]
Chr5:140250231 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1466T>G (p.Leu489Arg) single nucleotide variant Inborn genetic diseases [RCV003255725] Chr5:140876938 [GRCh38]
Chr5:140256523 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1466T>G (p.Leu489Arg) single nucleotide variant Inborn genetic diseases [RCV003255730] Chr5:140883734 [GRCh38]
Chr5:140263319 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1622T>C (p.Val541Ala) single nucleotide variant Inborn genetic diseases [RCV003255733] Chr5:140823397 [GRCh38]
Chr5:140202982 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.286C>G (p.Arg96Gly) single nucleotide variant Inborn genetic diseases [RCV003255734] Chr5:140822061 [GRCh38]
Chr5:140201646 [GRCh37]
Chr5:5q31.3
likely benign
NM_018911.3(PCDHA8):c.1493G>T (p.Arg498Leu) single nucleotide variant Inborn genetic diseases [RCV003295346] Chr5:140842814 [GRCh38]
Chr5:140222399 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1765C>A (p.Gln589Lys) single nucleotide variant Inborn genetic diseases [RCV003282484] Chr5:140829856 [GRCh38]
Chr5:140209441 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.727G>A (p.Ala243Thr) single nucleotide variant Inborn genetic diseases [RCV003260724] Chr5:140795691 [GRCh38]
Chr5:140175276 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2354G>A (p.Gly785Glu) single nucleotide variant Inborn genetic diseases [RCV003285052] Chr5:140871457 [GRCh38]
Chr5:140251042 [GRCh37]
Chr5:5q31.3
likely benign
NM_018903.4(PCDHA12):c.1553A>T (p.Tyr518Phe) single nucleotide variant Inborn genetic diseases [RCV003302400] Chr5:140877025 [GRCh38]
Chr5:140256610 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1625T>C (p.Val542Ala) single nucleotide variant Inborn genetic diseases [RCV003302401] Chr5:140877097 [GRCh38]
Chr5:140256682 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1234G>A (p.Ala412Thr) single nucleotide variant Inborn genetic diseases [RCV003302402] Chr5:140883502 [GRCh38]
Chr5:140263087 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.2393A>C (p.Lys798Thr) single nucleotide variant Inborn genetic diseases [RCV003307183] Chr5:140803590 [GRCh38]
Chr5:140183175 [GRCh37]
Chr5:5q31.3
uncertain significance
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 Inborn genetic diseases [RCV002879902] Chr5:140875817 [GRCh38]
Chr5:140255402 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2280G>C (p.Glu760Asp) single nucleotide variant Inborn genetic diseases [RCV002837022] Chr5:140871383 [GRCh38]
Chr5:140250968 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.2111T>C (p.Ile704Thr) single nucleotide variant Inborn genetic diseases [RCV002728588] Chr5:140968877 [GRCh38]
Chr5:140348462 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1219G>A (p.Val407Met) single nucleotide variant Inborn genetic diseases [RCV002729524] Chr5:140822994 [GRCh38]
Chr5:140202579 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.361G>A (p.Val121Met) single nucleotide variant Inborn genetic diseases [RCV002817725] Chr5:140875833 [GRCh38]
Chr5:140255418 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1442C>T (p.Ala481Val) single nucleotide variant Inborn genetic diseases [RCV002683581] Chr5:140870545 [GRCh38]
Chr5:140250130 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.701C>T (p.Ala234Val) single nucleotide variant Inborn genetic diseases [RCV002729909] Chr5:140856749 [GRCh38]
Chr5:140236334 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1768G>A (p.Val590Met) single nucleotide variant Inborn genetic diseases [RCV002728079] Chr5:140808955 [GRCh38]
Chr5:140188540 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.925G>C (p.Asp309His) single nucleotide variant Inborn genetic diseases [RCV002945427] Chr5:140787215 [GRCh38]
Chr5:140166800 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.124G>T (p.Gly42Cys) single nucleotide variant Inborn genetic diseases [RCV002990773] Chr5:140795088 [GRCh38]
Chr5:140174673 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1804G>A (p.Gly602Ser) single nucleotide variant Inborn genetic diseases [RCV002684433] Chr5:140829895 [GRCh38]
Chr5:140209480 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.881A>G (p.Gln294Arg) single nucleotide variant Inborn genetic diseases [RCV002817987] Chr5:140927773 [GRCh38]
Chr5:140307358 [GRCh37]
Chr5:5q31.3
likely benign
NM_018900.4(PCDHA1):c.1523T>C (p.Val508Ala) single nucleotide variant Inborn genetic diseases [RCV002727766] Chr5:140787813 [GRCh38]
Chr5:140167398 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1075G>C (p.Val359Leu) single nucleotide variant Inborn genetic diseases [RCV002972705] Chr5:140849570 [GRCh38]
Chr5:140229155 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.2224A>G (p.Ile742Val) single nucleotide variant Inborn genetic diseases [RCV002906686] Chr5:140929116 [GRCh38]
Chr5:140308701 [GRCh37]
Chr5:5q31.3
likely benign
NM_018905.3(PCDHA2):c.2342A>T (p.Asp781Val) single nucleotide variant Inborn genetic diseases [RCV002773825] Chr5:140797306 [GRCh38]
Chr5:140176891 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.143C>A (p.Ala48Asp) single nucleotide variant Inborn genetic diseases [RCV002840464] Chr5:140927035 [GRCh38]
Chr5:140306620 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.2152T>C (p.Tyr718His) single nucleotide variant Inborn genetic diseases [RCV002972758] Chr5:140803349 [GRCh38]
Chr5:140182934 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1973C>T (p.Ala658Val) single nucleotide variant Inborn genetic diseases [RCV002750050] Chr5:140830064 [GRCh38]
Chr5:140209649 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.384C>G (p.Asp128Glu) single nucleotide variant Inborn genetic diseases [RCV002905954] Chr5:140848879 [GRCh38]
Chr5:140228464 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.107A>C (p.Tyr36Ser) single nucleotide variant Inborn genetic diseases [RCV002729367] Chr5:140875579 [GRCh38]
Chr5:140255164 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.2185G>A (p.Glu729Lys) single nucleotide variant Inborn genetic diseases [RCV002749125] Chr5:140830276 [GRCh38]
Chr5:140209861 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.1904T>C (p.Val635Ala) single nucleotide variant Inborn genetic diseases [RCV002794292] Chr5:140968670 [GRCh38]
Chr5:140348255 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1503G>T (p.Glu501Asp) single nucleotide variant Inborn genetic diseases [RCV002778014] Chr5:140835886 [GRCh38]
Chr5:140215471 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1522G>A (p.Val508Met) single nucleotide variant Inborn genetic diseases [RCV002864592] Chr5:140883790 [GRCh38]
Chr5:140263375 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.319G>C (p.Glu107Gln) single nucleotide variant Inborn genetic diseases [RCV002859909] Chr5:140807506 [GRCh38]
Chr5:140187091 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.782T>C (p.Val261Ala) single nucleotide variant Inborn genetic diseases [RCV002793795] Chr5:140801979 [GRCh38]
Chr5:140181564 [GRCh37]
Chr5:5q31.3
likely benign
NM_018902.5(PCDHA11):c.996C>A (p.His332Gln) single nucleotide variant Inborn genetic diseases [RCV002864911] Chr5:140870099 [GRCh38]
Chr5:140249684 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.81C>G (p.Ser27Arg) single nucleotide variant Inborn genetic diseases [RCV002794109] Chr5:140856129 [GRCh38]
Chr5:140235714 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1249A>G (p.Ser417Gly) single nucleotide variant Inborn genetic diseases [RCV002864749] Chr5:140787539 [GRCh38]
Chr5:140167124 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1523C>T (p.Ser508Leu) single nucleotide variant Inborn genetic diseases [RCV002778466] Chr5:140870626 [GRCh38]
Chr5:140250211 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.275A>G (p.Glu92Gly) single nucleotide variant Inborn genetic diseases [RCV002818435] Chr5:140856323 [GRCh38]
Chr5:140235908 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1688C>A (p.Pro563Gln) single nucleotide variant Inborn genetic diseases [RCV002752181] Chr5:140877160 [GRCh38]
Chr5:140256745 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.516T>G (p.Ser172Arg) single nucleotide variant Inborn genetic diseases [RCV002734247] Chr5:140856564 [GRCh38]
Chr5:140236149 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1697T>C (p.Val566Ala) single nucleotide variant Inborn genetic diseases [RCV002777669] Chr5:140823472 [GRCh38]
Chr5:140203057 [GRCh37]
Chr5:5q31.3
likely benign
NM_018898.5(PCDHAC1):c.106G>T (p.Val36Leu) single nucleotide variant Inborn genetic diseases [RCV002883791] Chr5:140926998 [GRCh38]
Chr5:140306583 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1802C>T (p.Ser601Leu) single nucleotide variant Inborn genetic diseases [RCV002836637] Chr5:140788092 [GRCh38]
Chr5:140167677 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1469T>C (p.Val490Ala) single nucleotide variant Inborn genetic diseases [RCV002945944] Chr5:140876941 [GRCh38]
Chr5:140256526 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.322G>A (p.Val108Met) single nucleotide variant Inborn genetic diseases [RCV002733786] Chr5:140828413 [GRCh38]
Chr5:140207998 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.2038G>T (p.Val680Leu) single nucleotide variant Inborn genetic diseases [RCV002990311] Chr5:140968804 [GRCh38]
Chr5:140348389 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.361G>T (p.Val121Leu) single nucleotide variant Inborn genetic diseases [RCV002969036] Chr5:140875833 [GRCh38]
Chr5:140255418 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.509A>G (p.Tyr170Cys) single nucleotide variant Inborn genetic diseases [RCV002776656] Chr5:140875981 [GRCh38]
Chr5:140255566 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1775C>G (p.Ala592Gly) single nucleotide variant Inborn genetic diseases [RCV002753650] Chr5:140829866 [GRCh38]
Chr5:140209451 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.1387A>G (p.Asn463Asp) single nucleotide variant Inborn genetic diseases [RCV002688427] Chr5:140968153 [GRCh38]
Chr5:140347738 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1864C>T (p.Arg622Cys) single nucleotide variant Inborn genetic diseases [RCV002729341] Chr5:140857912 [GRCh38]
Chr5:140237497 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1918G>A (p.Ala640Thr) single nucleotide variant Inborn genetic diseases [RCV002879867] Chr5:140843239 [GRCh38]
Chr5:140222824 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.2045C>T (p.Ala682Val) single nucleotide variant Inborn genetic diseases [RCV002753829] Chr5:140836428 [GRCh38]
Chr5:140216013 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1991C>T (p.Thr664Met) single nucleotide variant Inborn genetic diseases [RCV002774120] Chr5:140830082 [GRCh38]
Chr5:140209667 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2013C>A (p.Ser671Arg) single nucleotide variant Inborn genetic diseases [RCV002970563] Chr5:140871116 [GRCh38]
Chr5:140250701 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.2288G>A (p.Gly763Asp) single nucleotide variant Inborn genetic diseases [RCV002772985] Chr5:140850783 [GRCh38]
Chr5:140230368 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1603G>T (p.Val535Leu) single nucleotide variant Inborn genetic diseases [RCV002777518] Chr5:140796567 [GRCh38]
Chr5:140176152 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.303G>C (p.Glu101Asp) single nucleotide variant Inborn genetic diseases [RCV002732624] Chr5:140801500 [GRCh38]
Chr5:140181085 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1249G>T (p.Val417Leu) single nucleotide variant Inborn genetic diseases [RCV002773380] Chr5:140870352 [GRCh38]
Chr5:140249937 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1636G>A (p.Gly546Ser) single nucleotide variant Inborn genetic diseases [RCV002969949] Chr5:140877108 [GRCh38]
Chr5:140256693 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.612C>A (p.Asp204Glu) single nucleotide variant Inborn genetic diseases [RCV002859329] Chr5:140841933 [GRCh38]
Chr5:140221518 [GRCh37]
Chr5:5q31.3
likely benign
NM_018903.4(PCDHA12):c.38G>T (p.Arg13Leu) single nucleotide variant Inborn genetic diseases [RCV002687877] Chr5:140875510 [GRCh38]
Chr5:140255095 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1504C>T (p.Arg502Cys) single nucleotide variant Inborn genetic diseases [RCV002774674] Chr5:140796468 [GRCh38]
Chr5:140176053 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.125G>A (p.Gly42Asp) single nucleotide variant Inborn genetic diseases [RCV002684592] Chr5:140848620 [GRCh38]
Chr5:140228205 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1926G>T (p.Leu642Phe) single nucleotide variant Inborn genetic diseases [RCV002732488] Chr5:140788216 [GRCh38]
Chr5:140167801 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1261G>A (p.Glu421Lys) single nucleotide variant Inborn genetic diseases [RCV002946695] Chr5:140870364 [GRCh38]
Chr5:140249949 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1151A>T (p.Gln384Leu) single nucleotide variant Inborn genetic diseases [RCV002688832] Chr5:140829242 [GRCh38]
Chr5:140208827 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.320A>G (p.Glu107Gly) single nucleotide variant Inborn genetic diseases [RCV002731836] Chr5:140882588 [GRCh38]
Chr5:140262173 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1000T>A (p.Cys334Ser) single nucleotide variant Inborn genetic diseases [RCV002733864] Chr5:140802197 [GRCh38]
Chr5:140181782 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1001G>A (p.Cys334Tyr) single nucleotide variant Inborn genetic diseases [RCV002818058] Chr5:140849496 [GRCh38]
Chr5:140229081 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.179T>C (p.Val60Ala) single nucleotide variant Inborn genetic diseases [RCV002818845] Chr5:140875651 [GRCh38]
Chr5:140255236 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.2197C>T (p.Arg733Trp) single nucleotide variant Inborn genetic diseases [RCV002686749] Chr5:140823972 [GRCh38]
Chr5:140203557 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1645G>A (p.Val549Met) single nucleotide variant Inborn genetic diseases [RCV002733033] Chr5:140883913 [GRCh38]
Chr5:140263498 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.682A>G (p.Thr228Ala) single nucleotide variant Inborn genetic diseases [RCV002732033] Chr5:140967448 [GRCh38]
Chr5:140347033 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1517G>A (p.Ser506Asn) single nucleotide variant Inborn genetic diseases [RCV002818951] Chr5:140850012 [GRCh38]
Chr5:140229597 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.214C>G (p.Arg72Gly) single nucleotide variant Inborn genetic diseases [RCV002946373] Chr5:140841535 [GRCh38]
Chr5:140221120 [GRCh37]
Chr5:5q31.3
likely benign
NM_018903.4(PCDHA12):c.545T>C (p.Ile182Thr) single nucleotide variant Inborn genetic diseases [RCV002818245] Chr5:140876017 [GRCh38]
Chr5:140255602 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.568A>C (p.Lys190Gln) single nucleotide variant Inborn genetic diseases [RCV002777385] Chr5:140786858 [GRCh38]
Chr5:140166443 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1519G>C (p.Val507Leu) single nucleotide variant Inborn genetic diseases [RCV002888064] Chr5:140823294 [GRCh38]
Chr5:140202879 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1078G>A (p.Glu360Lys) single nucleotide variant Inborn genetic diseases [RCV002981546] Chr5:140822853 [GRCh38]
Chr5:140202438 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1127A>C (p.His376Pro) single nucleotide variant Inborn genetic diseases [RCV002739628] Chr5:140857175 [GRCh38]
Chr5:140236760 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.178G>A (p.Val60Met) single nucleotide variant Inborn genetic diseases [RCV002822991] Chr5:140828269 [GRCh38]
Chr5:140207854 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1855C>G (p.Arg619Gly) single nucleotide variant Inborn genetic diseases [RCV002869170] Chr5:140843176 [GRCh38]
Chr5:140222761 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1760C>A (p.Ala587Glu) single nucleotide variant Inborn genetic diseases [RCV002911159] Chr5:140836143 [GRCh38]
Chr5:140215728 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.2131G>A (p.Val711Met) single nucleotide variant Inborn genetic diseases [RCV002925294] Chr5:140823906 [GRCh38]
Chr5:140203491 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.91C>T (p.His31Tyr) single nucleotide variant Inborn genetic diseases [RCV002762476] Chr5:140856139 [GRCh38]
Chr5:140235724 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.2070G>C (p.Glu690Asp) single nucleotide variant Inborn genetic diseases [RCV002849586] Chr5:140797034 [GRCh38]
Chr5:140176619 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.2050G>A (p.Val684Met) single nucleotide variant Inborn genetic diseases [RCV002799880] Chr5:140797014 [GRCh38]
Chr5:140176599 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.436G>A (p.Ala146Thr) single nucleotide variant Inborn genetic diseases [RCV002737104] Chr5:140875908 [GRCh38]
Chr5:140255493 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1853C>A (p.Ala618Glu) single nucleotide variant Inborn genetic diseases [RCV002707949] Chr5:140803050 [GRCh38]
Chr5:140182635 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.811C>T (p.Pro271Ser) single nucleotide variant Inborn genetic diseases [RCV002737973] Chr5:140967577 [GRCh38]
Chr5:140347162 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1204C>A (p.Pro402Thr) single nucleotide variant Inborn genetic diseases [RCV002849180] Chr5:140928096 [GRCh38]
Chr5:140307681 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.652G>A (p.Gly218Arg) single nucleotide variant Inborn genetic diseases [RCV002762766] Chr5:140801849 [GRCh38]
Chr5:140181434 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1737G>C (p.Glu579Asp) single nucleotide variant Inborn genetic diseases [RCV002821749] Chr5:140836120 [GRCh38]
Chr5:140215705 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1969C>A (p.Pro657Thr) single nucleotide variant Inborn genetic diseases [RCV002926450] Chr5:140809156 [GRCh38]
Chr5:140188741 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.172G>C (p.Glu58Gln) single nucleotide variant Inborn genetic diseases [RCV002888065] Chr5:140848667 [GRCh38]
Chr5:140228252 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.2111T>C (p.Ile704Thr) single nucleotide variant Inborn genetic diseases [RCV002849337] Chr5:140877583 [GRCh38]
Chr5:140257168 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.2158G>A (p.Ala720Thr) single nucleotide variant Inborn genetic diseases [RCV002692541] Chr5:140809345 [GRCh38]
Chr5:140188930 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.413A>G (p.Lys138Arg) single nucleotide variant Inborn genetic diseases [RCV002978301] Chr5:140795377 [GRCh38]
Chr5:140174962 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1496G>C (p.Gly499Ala) single nucleotide variant Inborn genetic diseases [RCV002784506] Chr5:140823271 [GRCh38]
Chr5:140202856 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.644C>T (p.Thr215Ile) single nucleotide variant Inborn genetic diseases [RCV002868944] Chr5:140841965 [GRCh38]
Chr5:140221550 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.827A>C (p.Asp276Ala) single nucleotide variant Inborn genetic diseases [RCV002822365] Chr5:140849322 [GRCh38]
Chr5:140228907 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.369G>C (p.Lys123Asn) single nucleotide variant Inborn genetic diseases [RCV002925110] Chr5:140856417 [GRCh38]
Chr5:140236002 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.374A>T (p.Asp125Val) single nucleotide variant Inborn genetic diseases [RCV002910844] Chr5:140795338 [GRCh38]
Chr5:140174923 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1054C>G (p.Leu352Val) single nucleotide variant Inborn genetic diseases [RCV002781588] Chr5:140835437 [GRCh38]
Chr5:140215022 [GRCh37]
Chr5:5q31.3
likely benign
NM_018905.3(PCDHA2):c.421C>T (p.Arg141Trp) single nucleotide variant Inborn genetic diseases [RCV002759326] Chr5:140795385 [GRCh38]
Chr5:140174970 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1700C>A (p.Ala567Glu) single nucleotide variant Inborn genetic diseases [RCV002978728] Chr5:140836083 [GRCh38]
Chr5:140215668 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.686T>G (p.Leu229Arg) single nucleotide variant Inborn genetic diseases [RCV002694049] Chr5:140795650 [GRCh38]
Chr5:140175235 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.2308G>A (p.Ala770Thr) single nucleotide variant Inborn genetic diseases [RCV002821553] Chr5:140824083 [GRCh38]
Chr5:140203668 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1137T>G (p.Phe379Leu) single nucleotide variant Inborn genetic diseases [RCV002782426] Chr5:140835520 [GRCh38]
Chr5:140215105 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1760C>T (p.Ala587Val) single nucleotide variant Inborn genetic diseases [RCV002693811] Chr5:140836143 [GRCh38]
Chr5:140215728 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1862C>T (p.Pro621Leu) single nucleotide variant Inborn genetic diseases [RCV002822363] Chr5:140809049 [GRCh38]
Chr5:140188634 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1814C>T (p.Ala605Val) single nucleotide variant Inborn genetic diseases [RCV002924905] Chr5:140843135 [GRCh38]
Chr5:140222720 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1975C>G (p.Leu659Val) single nucleotide variant Inborn genetic diseases [RCV002705116] Chr5:140836358 [GRCh38]
Chr5:140215943 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1802C>T (p.Ser601Leu) single nucleotide variant Inborn genetic diseases [RCV002783577] Chr5:140808989 [GRCh38]
Chr5:140188574 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.2125A>C (p.Ser709Arg) single nucleotide variant Inborn genetic diseases [RCV002978549] Chr5:140803322 [GRCh38]
Chr5:140182907 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1540G>C (p.Gly514Arg) single nucleotide variant Inborn genetic diseases [RCV003000677] Chr5:140823315 [GRCh38]
Chr5:140202900 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.949A>C (p.Lys317Gln) single nucleotide variant Inborn genetic diseases [RCV002821264] Chr5:140849444 [GRCh38]
Chr5:140229029 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.382G>C (p.Asp128His) single nucleotide variant Inborn genetic diseases [RCV002844438] Chr5:140807569 [GRCh38]
Chr5:140187154 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.827C>A (p.Thr276Lys) single nucleotide variant Inborn genetic diseases [RCV002692321] Chr5:140927719 [GRCh38]
Chr5:140307304 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.2155A>G (p.Thr719Ala) single nucleotide variant Inborn genetic diseases [RCV002737874] Chr5:140884423 [GRCh38]
Chr5:140264008 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.2194T>C (p.Cys732Arg) single nucleotide variant Inborn genetic diseases [RCV002822900] Chr5:140836577 [GRCh38]
Chr5:140216162 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.167C>A (p.Ala56Glu) single nucleotide variant Inborn genetic diseases [RCV002925627] Chr5:140856215 [GRCh38]
Chr5:140235800 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.2212G>T (p.Gly738Cys) single nucleotide variant Inborn genetic diseases [RCV002925632] Chr5:140968978 [GRCh38]
Chr5:140348563 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.421C>G (p.Arg141Gly) single nucleotide variant Inborn genetic diseases [RCV002925901] Chr5:140795385 [GRCh38]
Chr5:140174970 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.89A>G (p.Gln30Arg) single nucleotide variant Inborn genetic diseases [RCV002737087] Chr5:140801286 [GRCh38]
Chr5:140180871 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.2294C>T (p.Pro765Leu) single nucleotide variant Inborn genetic diseases [RCV003000855] Chr5:140803491 [GRCh38]
Chr5:140183076 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.917C>T (p.Thr306Ile) single nucleotide variant Inborn genetic diseases [RCV002884434] Chr5:140870020 [GRCh38]
Chr5:140249605 [GRCh37]
Chr5:5q31.3
likely benign
NM_018907.4(PCDHA4):c.746T>C (p.Val249Ala) single nucleotide variant Inborn genetic diseases [RCV002661189] Chr5:140807933 [GRCh38]
Chr5:140187518 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.158G>A (p.Gly53Glu) single nucleotide variant Inborn genetic diseases [RCV002739296] Chr5:140869261 [GRCh38]
Chr5:140248846 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1682A>T (p.Asn561Ile) single nucleotide variant Inborn genetic diseases [RCV002661857] Chr5:140883950 [GRCh38]
Chr5:140263535 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1741C>T (p.Pro581Ser) single nucleotide variant Inborn genetic diseases [RCV002799022] Chr5:140870844 [GRCh38]
Chr5:140250429 [GRCh37]
Chr5:5q31.3
likely benign
NM_018906.3(PCDHA3):c.574C>G (p.Leu192Val) single nucleotide variant Inborn genetic diseases [RCV002949827] Chr5:140801771 [GRCh38]
Chr5:140181356 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.680G>C (p.Arg227Pro) single nucleotide variant Inborn genetic diseases [RCV002951436] Chr5:140869783 [GRCh38]
Chr5:140249368 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.778C>A (p.Pro260Thr) single nucleotide variant Inborn genetic diseases [RCV002848739] Chr5:140927670 [GRCh38]
Chr5:140307255 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.457C>T (p.Pro153Ser) single nucleotide variant Inborn genetic diseases [RCV003000606] Chr5:140786747 [GRCh38]
Chr5:140166332 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.394G>A (p.Val132Met) single nucleotide variant Inborn genetic diseases [RCV002845994] Chr5:140869497 [GRCh38]
Chr5:140249082 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.2345C>G (p.Ser782Cys) single nucleotide variant Inborn genetic diseases [RCV002781824] Chr5:140836728 [GRCh38]
Chr5:140216313 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.70T>C (p.Trp24Arg) single nucleotide variant Inborn genetic diseases [RCV002950740] Chr5:140795034 [GRCh38]
Chr5:140174619 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1025A>T (p.Asp342Val) single nucleotide variant Inborn genetic diseases [RCV002887173] Chr5:140795989 [GRCh38]
Chr5:140175574 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.2120T>C (p.Val707Ala) single nucleotide variant Inborn genetic diseases [RCV002661974] Chr5:140797084 [GRCh38]
Chr5:140176669 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1765G>T (p.Val589Leu) single nucleotide variant Inborn genetic diseases [RCV002926371] Chr5:140850260 [GRCh38]
Chr5:140229845 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.14G>T (p.Trp5Leu) single nucleotide variant Inborn genetic diseases [RCV002738824] Chr5:140882282 [GRCh38]
Chr5:140261867 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1490G>T (p.Arg497Leu) single nucleotide variant Inborn genetic diseases [RCV002977684] Chr5:140876962 [GRCh38]
Chr5:140256547 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.4C>G (p.Leu2Val) single nucleotide variant Inborn genetic diseases [RCV002869499] Chr5:140882272 [GRCh38]
Chr5:140261857 [GRCh37]
Chr5:5q31.3
likely benign
NM_018898.5(PCDHAC1):c.540C>G (p.Ser180Arg) single nucleotide variant Inborn genetic diseases [RCV002738883] Chr5:140927432 [GRCh38]
Chr5:140307017 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.489G>T (p.Glu163Asp) single nucleotide variant Inborn genetic diseases [RCV002926068] Chr5:140856537 [GRCh38]
Chr5:140236122 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1115G>C (p.Ser372Thr) single nucleotide variant Inborn genetic diseases [RCV002887733] Chr5:140822890 [GRCh38]
Chr5:140202475 [GRCh37]
Chr5:5q31.3
likely benign
NM_018909.4(PCDHA6):c.989T>A (p.Met330Lys) single nucleotide variant Inborn genetic diseases [RCV002888442] Chr5:140829080 [GRCh38]
Chr5:140208665 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1102G>T (p.Val368Phe) single nucleotide variant Inborn genetic diseases [RCV002691371] Chr5:140835485 [GRCh38]
Chr5:140215070 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.418G>A (p.Val140Ile) single nucleotide variant Inborn genetic diseases [RCV002758403] Chr5:140875890 [GRCh38]
Chr5:140255475 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.106T>C (p.Tyr36His) single nucleotide variant Inborn genetic diseases [RCV002821881] Chr5:140875578 [GRCh38]
Chr5:140255163 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.2011G>C (p.Gly671Arg) single nucleotide variant Inborn genetic diseases [RCV002757352] Chr5:140858059 [GRCh38]
Chr5:140237644 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1706G>A (p.Arg569Gln) single nucleotide variant Inborn genetic diseases [RCV002910311] Chr5:140829797 [GRCh38]
Chr5:140209382 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.35G>T (p.Arg12Leu) single nucleotide variant Inborn genetic diseases [RCV002738286] Chr5:140786325 [GRCh38]
Chr5:140165910 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.104C>G (p.Pro35Arg) single nucleotide variant Inborn genetic diseases [RCV002950115] Chr5:140821879 [GRCh38]
Chr5:140201464 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.1193G>A (p.Arg398Gln) single nucleotide variant Inborn genetic diseases [RCV002737088] Chr5:140967959 [GRCh38]
Chr5:140347544 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1846G>T (p.Ala616Ser) single nucleotide variant Inborn genetic diseases [RCV002703902] Chr5:140850341 [GRCh38]
Chr5:140229926 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.497C>A (p.Ala166Asp) single nucleotide variant Inborn genetic diseases [RCV002888866] Chr5:140786787 [GRCh38]
Chr5:140166372 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.2084A>G (p.Asp695Gly) single nucleotide variant Inborn genetic diseases [RCV002888277] Chr5:140850579 [GRCh38]
Chr5:140230164 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1897A>C (p.Thr633Pro) single nucleotide variant Inborn genetic diseases [RCV002784558] Chr5:140877369 [GRCh38]
Chr5:140256954 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.913G>C (p.Asp305His) single nucleotide variant Inborn genetic diseases [RCV002694633] Chr5:140856961 [GRCh38]
Chr5:140236546 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.452A>G (p.Asp151Gly) single nucleotide variant Inborn genetic diseases [RCV002977034] Chr5:140927344 [GRCh38]
Chr5:140306929 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1310C>G (p.Thr437Arg) single nucleotide variant Inborn genetic diseases [RCV002660555] Chr5:140870413 [GRCh38]
Chr5:140249998 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.214G>A (p.Gly72Arg) single nucleotide variant Inborn genetic diseases [RCV002757543] Chr5:140795178 [GRCh38]
Chr5:140174763 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1555G>T (p.Ala519Ser) single nucleotide variant Inborn genetic diseases [RCV002951594] Chr5:140877027 [GRCh38]
Chr5:140256612 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1444G>T (p.Ala482Ser) single nucleotide variant Inborn genetic diseases [RCV002799194] Chr5:140849939 [GRCh38]
Chr5:140229524 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.917G>A (p.Gly306Glu) single nucleotide variant Inborn genetic diseases [RCV002911122] Chr5:140795881 [GRCh38]
Chr5:140175466 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1580A>G (p.Glu527Gly) single nucleotide variant Inborn genetic diseases [RCV002977712] Chr5:140842901 [GRCh38]
Chr5:140222486 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.1292G>A (p.Arg431Gln) single nucleotide variant Inborn genetic diseases [RCV002694026] Chr5:140968058 [GRCh38]
Chr5:140347643 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1795G>A (p.Ala599Thr) single nucleotide variant Inborn genetic diseases [RCV002708804] Chr5:140877267 [GRCh38]
Chr5:140256852 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1341C>A (p.Asp447Glu) single nucleotide variant Inborn genetic diseases [RCV002664457] Chr5:140787631 [GRCh38]
Chr5:140167216 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1477T>C (p.Ser493Pro) single nucleotide variant Inborn genetic diseases [RCV002854352] Chr5:140849972 [GRCh38]
Chr5:140229557 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.1195A>C (p.Lys399Gln) single nucleotide variant Inborn genetic diseases [RCV002830954] Chr5:140967961 [GRCh38]
Chr5:140347546 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.2089G>C (p.Val697Leu) single nucleotide variant Inborn genetic diseases [RCV002668236] Chr5:140823864 [GRCh38]
Chr5:140203449 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.934A>G (p.Asn312Asp) single nucleotide variant Inborn genetic diseases [RCV002768440] Chr5:140870037 [GRCh38]
Chr5:140249622 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1511T>A (p.Leu504Gln) single nucleotide variant Inborn genetic diseases [RCV002712651] Chr5:140850006 [GRCh38]
Chr5:140229591 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1213T>C (p.Ser405Pro) single nucleotide variant Inborn genetic diseases [RCV002985824] Chr5:140857261 [GRCh38]
Chr5:140236846 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1664T>C (p.Leu555Pro) single nucleotide variant Inborn genetic diseases [RCV002955116] Chr5:140823439 [GRCh38]
Chr5:140203024 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2098A>G (p.Ile700Val) single nucleotide variant Inborn genetic diseases [RCV002987483] Chr5:140871201 [GRCh38]
Chr5:140250786 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1323G>T (p.Leu441Phe) single nucleotide variant Inborn genetic diseases [RCV002668168] Chr5:140829414 [GRCh38]
Chr5:140208999 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1534G>A (p.Ala512Thr) single nucleotide variant Inborn genetic diseases [RCV002763783] Chr5:140829625 [GRCh38]
Chr5:140209210 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.968C>T (p.Thr323Met) single nucleotide variant Inborn genetic diseases [RCV002803751] Chr5:140802165 [GRCh38]
Chr5:140181750 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.583G>C (p.Val195Leu) single nucleotide variant Inborn genetic diseases [RCV002713496] Chr5:140801780 [GRCh38]
Chr5:140181365 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1544G>T (p.Gly515Val) single nucleotide variant Inborn genetic diseases [RCV002698293] Chr5:140877016 [GRCh38]
Chr5:140256601 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1019T>A (p.Val340Glu) single nucleotide variant Inborn genetic diseases [RCV002709545] Chr5:140787309 [GRCh38]
Chr5:140166894 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1498G>A (p.Gly500Ser) single nucleotide variant Inborn genetic diseases [RCV002789446] Chr5:140835881 [GRCh38]
Chr5:140215466 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.269T>C (p.Ile90Thr) single nucleotide variant Inborn genetic diseases [RCV002892834] Chr5:140875741 [GRCh38]
Chr5:140255326 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.535G>A (p.Gly179Ser) single nucleotide variant Inborn genetic diseases [RCV002763242] Chr5:140927427 [GRCh38]
Chr5:140307012 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1745G>A (p.Arg582Lys) single nucleotide variant Inborn genetic diseases [RCV002915440] Chr5:140823520 [GRCh38]
Chr5:140203105 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.490G>A (p.Glu164Lys) single nucleotide variant Inborn genetic diseases [RCV002956203] Chr5:140807677 [GRCh38]
Chr5:140187262 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1370A>G (p.Gln457Arg) single nucleotide variant Inborn genetic diseases [RCV002709547] Chr5:140849865 [GRCh38]
Chr5:140229450 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.572C>T (p.Pro191Leu) single nucleotide variant Inborn genetic diseases [RCV002893494] Chr5:140834955 [GRCh38]
Chr5:140214540 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1888G>C (p.Glu630Gln) single nucleotide variant Inborn genetic diseases [RCV002787141] Chr5:140884156 [GRCh38]
Chr5:140263741 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1292G>T (p.Gly431Val) single nucleotide variant Inborn genetic diseases [RCV002850843] Chr5:140842613 [GRCh38]
Chr5:140222198 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.344A>T (p.Gln115Leu) single nucleotide variant Inborn genetic diseases [RCV002743254] Chr5:140801541 [GRCh38]
Chr5:140181126 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.52C>T (p.Leu18Phe) single nucleotide variant Inborn genetic diseases [RCV002664884] Chr5:140807239 [GRCh38]
Chr5:140186824 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1342G>A (p.Val448Met) single nucleotide variant Inborn genetic diseases [RCV002664885] Chr5:140849837 [GRCh38]
Chr5:140229422 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.2043C>G (p.Asn681Lys) single nucleotide variant Inborn genetic diseases [RCV002874674] Chr5:140928935 [GRCh38]
Chr5:140308520 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.934G>A (p.Glu312Lys) single nucleotide variant Inborn genetic diseases [RCV002803592] Chr5:140795898 [GRCh38]
Chr5:140175483 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1529A>G (p.His510Arg) single nucleotide variant Inborn genetic diseases [RCV002955115] Chr5:140857577 [GRCh38]
Chr5:140237162 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.2203G>T (p.Val735Leu) single nucleotide variant Inborn genetic diseases [RCV002763746] Chr5:140836586 [GRCh38]
Chr5:140216171 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.752T>C (p.Ile251Thr) single nucleotide variant Inborn genetic diseases [RCV002915878] Chr5:140828843 [GRCh38]
Chr5:140208428 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.2189G>A (p.Gly730Asp) single nucleotide variant Inborn genetic diseases [RCV002929497] Chr5:140836572 [GRCh38]
Chr5:140216157 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1706G>T (p.Arg569Leu) single nucleotide variant Inborn genetic diseases [RCV002955498] Chr5:140787996 [GRCh38]
Chr5:140167581 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.712A>T (p.Asn238Tyr) single nucleotide variant Inborn genetic diseases [RCV002664656] Chr5:140882980 [GRCh38]
Chr5:140262565 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.2252G>A (p.Arg751Lys) single nucleotide variant Inborn genetic diseases [RCV002984541] Chr5:140969018 [GRCh38]
Chr5:140348603 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1575C>G (p.His525Gln) single nucleotide variant Inborn genetic diseases [RCV002850662] Chr5:140787865 [GRCh38]
Chr5:140167450 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.2164C>T (p.Arg722Trp) single nucleotide variant Inborn genetic diseases [RCV002764974] Chr5:140850659 [GRCh38]
Chr5:140230244 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.185G>T (p.Arg62Leu) single nucleotide variant Inborn genetic diseases [RCV002931813] Chr5:140848680 [GRCh38]
Chr5:140228265 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1022T>G (p.Val341Gly) single nucleotide variant Inborn genetic diseases [RCV002765288] Chr5:140795986 [GRCh38]
Chr5:140175571 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.2104A>G (p.Ile702Val) single nucleotide variant Inborn genetic diseases [RCV003003545] Chr5:140797068 [GRCh38]
Chr5:140176653 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.757G>A (p.Glu253Lys) single nucleotide variant Inborn genetic diseases [RCV002916491] Chr5:140883025 [GRCh38]
Chr5:140262610 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1222A>C (p.Ile408Leu) single nucleotide variant Inborn genetic diseases [RCV002699601] Chr5:140928114 [GRCh38]
Chr5:140307699 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1925C>T (p.Pro642Leu) single nucleotide variant Inborn genetic diseases [RCV002709544] Chr5:140823700 [GRCh38]
Chr5:140203285 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1688C>T (p.Pro563Leu) single nucleotide variant Inborn genetic diseases [RCV002697965] Chr5:140877160 [GRCh38]
Chr5:140256745 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1087G>T (p.Ala363Ser) single nucleotide variant Inborn genetic diseases [RCV002955551] Chr5:140787377 [GRCh38]
Chr5:140166962 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.753A>G (p.Ile251Met) single nucleotide variant Inborn genetic diseases [RCV002929954] Chr5:140828844 [GRCh38]
Chr5:140208429 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.56T>C (p.Leu19Pro) single nucleotide variant Inborn genetic diseases [RCV002984470] Chr5:140841377 [GRCh38]
Chr5:140220962 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1517C>T (p.Ala506Val) single nucleotide variant Inborn genetic diseases [RCV002712475] Chr5:140928409 [GRCh38]
Chr5:140307994 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1952T>G (p.Val651Gly) single nucleotide variant Inborn genetic diseases [RCV002786920] Chr5:140884220 [GRCh38]
Chr5:140263805 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.452G>T (p.Arg151Leu) single nucleotide variant Inborn genetic diseases [RCV002697259] Chr5:140848947 [GRCh38]
Chr5:140228532 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1964A>T (p.Glu655Val) single nucleotide variant Inborn genetic diseases [RCV002696883] Chr5:140858012 [GRCh38]
Chr5:140237597 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.2288G>C (p.Gly763Ala) single nucleotide variant Inborn genetic diseases [RCV003006906] Chr5:140843609 [GRCh38]
Chr5:140223194 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1217C>T (p.Ser406Leu) single nucleotide variant Inborn genetic diseases [RCV002826050] Chr5:140849712 [GRCh38]
Chr5:140229297 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.860G>A (p.Arg287His) single nucleotide variant Inborn genetic diseases [RCV002787533] Chr5:140787150 [GRCh38]
Chr5:140166735 [GRCh37]
Chr5:5q31.3
likely benign
NM_018911.3(PCDHA8):c.2075C>A (p.Ala692Glu) single nucleotide variant Inborn genetic diseases [RCV002709416] Chr5:140843396 [GRCh38]
Chr5:140222981 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1061C>T (p.Ser354Phe) single nucleotide variant Inborn genetic diseases [RCV002930380] Chr5:140829152 [GRCh38]
Chr5:140208737 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.893A>T (p.Asn298Ile) single nucleotide variant Inborn genetic diseases [RCV002893714] Chr5:140828984 [GRCh38]
Chr5:140208569 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1514C>T (p.Ser505Leu) single nucleotide variant Inborn genetic diseases [RCV002875430] Chr5:140787804 [GRCh38]
Chr5:140167389 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1895C>G (p.Thr632Arg) single nucleotide variant Inborn genetic diseases [RCV002699380] Chr5:140870998 [GRCh38]
Chr5:140250583 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1882A>T (p.Thr628Ser) single nucleotide variant Inborn genetic diseases [RCV002767876] Chr5:140843203 [GRCh38]
Chr5:140222788 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2050G>C (p.Gly684Arg) single nucleotide variant Inborn genetic diseases [RCV002985952] Chr5:140871153 [GRCh38]
Chr5:140250738 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.119A>T (p.His40Leu) single nucleotide variant Inborn genetic diseases [RCV003003806] Chr5:140856167 [GRCh38]
Chr5:140235752 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1996C>T (p.Leu666Phe) single nucleotide variant Inborn genetic diseases [RCV002664582] Chr5:140788286 [GRCh38]
Chr5:140167871 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.790C>G (p.Pro264Ala) single nucleotide variant Inborn genetic diseases [RCV002850206] Chr5:140849285 [GRCh38]
Chr5:140228870 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1447G>T (p.Ala483Ser) single nucleotide variant Inborn genetic diseases [RCV003004861] Chr5:140870550 [GRCh38]
Chr5:140250135 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1895G>C (p.Ser632Thr) single nucleotide variant Inborn genetic diseases [RCV002985049] Chr5:140877367 [GRCh38]
Chr5:140256952 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2269G>A (p.Val757Met) single nucleotide variant Inborn genetic diseases [RCV002804633] Chr5:140871372 [GRCh38]
Chr5:140250957 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.920A>C (p.Glu307Ala) single nucleotide variant Inborn genetic diseases [RCV003004107] Chr5:140876392 [GRCh38]
Chr5:140255977 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.492C>G (p.Ser164Arg) single nucleotide variant Inborn genetic diseases [RCV002644598] Chr5:140927384 [GRCh38]
Chr5:140306969 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1711G>A (p.Gly571Ser) single nucleotide variant Inborn genetic diseases [RCV002789822] Chr5:140836094 [GRCh38]
Chr5:140215679 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1129C>A (p.Arg377Ser) single nucleotide variant Inborn genetic diseases [RCV002983774] Chr5:140876601 [GRCh38]
Chr5:140256186 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1928G>A (p.Arg643His) single nucleotide variant Inborn genetic diseases [RCV002787411] Chr5:140871031 [GRCh38]
Chr5:140250616 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.2185G>A (p.Glu729Lys) single nucleotide variant Inborn genetic diseases [RCV002748371] Chr5:140803382 [GRCh38]
Chr5:140182967 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1885G>A (p.Gly629Arg) single nucleotide variant Inborn genetic diseases [RCV002941343] Chr5:140803082 [GRCh38]
Chr5:140182667 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.551A>G (p.Lys184Arg) single nucleotide variant Inborn genetic diseases [RCV002939204] Chr5:140856599 [GRCh38]
Chr5:140236184 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.2117C>T (p.Ala706Val) single nucleotide variant Inborn genetic diseases [RCV002813458] Chr5:140803314 [GRCh38]
Chr5:140182899 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.805C>G (p.Pro269Ala) single nucleotide variant Inborn genetic diseases [RCV002718396] Chr5:140876277 [GRCh38]
Chr5:140255862 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.333C>A (p.Asp111Glu) single nucleotide variant Inborn genetic diseases [RCV002673762] Chr5:140828424 [GRCh38]
Chr5:140208009 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.1589G>C (p.Ser530Thr) single nucleotide variant Inborn genetic diseases [RCV002940783] Chr5:140968355 [GRCh38]
Chr5:140347940 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.496T>G (p.Ser166Ala) single nucleotide variant Inborn genetic diseases [RCV002809796] Chr5:140841817 [GRCh38]
Chr5:140221402 [GRCh37]
Chr5:5q31.3
likely benign
NM_018904.3(PCDHA13):c.1000T>C (p.Cys334Arg) single nucleotide variant Inborn genetic diseases [RCV002939472] Chr5:140883268 [GRCh38]
Chr5:140262853 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1979C>T (p.Thr660Ile) single nucleotide variant Inborn genetic diseases [RCV002941476] Chr5:140796943 [GRCh38]
Chr5:140176528 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1166C>T (p.Thr389Met) single nucleotide variant Inborn genetic diseases [RCV002808523] Chr5:140870269 [GRCh38]
Chr5:140249854 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1846A>G (p.Ser616Gly) single nucleotide variant Inborn genetic diseases [RCV002878909] Chr5:140823621 [GRCh38]
Chr5:140203206 [GRCh37]
Chr5:5q31.3
likely benign
NM_018909.4(PCDHA6):c.1818G>C (p.Trp606Cys) single nucleotide variant Inborn genetic diseases [RCV002831020] Chr5:140829909 [GRCh38]
Chr5:140209494 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1703G>A (p.Arg568Gln) single nucleotide variant Inborn genetic diseases [RCV002965644] Chr5:140823478 [GRCh38]
Chr5:140203063 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1396G>A (p.Glu466Lys) single nucleotide variant Inborn genetic diseases [RCV002941679] Chr5:140883664 [GRCh38]
Chr5:140263249 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.762C>G (p.Asn254Lys) single nucleotide variant Inborn genetic diseases [RCV002717945] Chr5:140883030 [GRCh38]
Chr5:140262615 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1649A>G (p.Asp550Gly) single nucleotide variant Inborn genetic diseases [RCV002896573] Chr5:140928541 [GRCh38]
Chr5:140308126 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.122G>C (p.Gly41Ala) single nucleotide variant Inborn genetic diseases [RCV002965952] Chr5:140821897 [GRCh38]
Chr5:140201482 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.2192C>G (p.Ala731Gly) single nucleotide variant Inborn genetic diseases [RCV002808734] Chr5:140884460 [GRCh38]
Chr5:140264045 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1495G>T (p.Val499Leu) single nucleotide variant Inborn genetic diseases [RCV003008791] Chr5:140835878 [GRCh38]
Chr5:140215463 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.973A>G (p.Lys325Glu) single nucleotide variant Inborn genetic diseases [RCV002670640] Chr5:140927865 [GRCh38]
Chr5:140307450 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.290G>A (p.Gly97Glu) single nucleotide variant Inborn genetic diseases [RCV002897729] Chr5:140841611 [GRCh38]
Chr5:140221196 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.2308A>C (p.Met770Leu) single nucleotide variant Inborn genetic diseases [RCV002832503] Chr5:140830399 [GRCh38]
Chr5:140209984 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2295G>T (p.Lys765Asn) single nucleotide variant Inborn genetic diseases [RCV002897363] Chr5:140871398 [GRCh38]
Chr5:140250983 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1292G>A (p.Gly431Asp) single nucleotide variant Inborn genetic diseases [RCV002832403] Chr5:140883560 [GRCh38]
Chr5:140263145 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.2236A>G (p.Thr746Ala) single nucleotide variant Inborn genetic diseases [RCV002672346] Chr5:140929128 [GRCh38]
Chr5:140308713 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1117A>T (p.Thr373Ser) single nucleotide variant Inborn genetic diseases [RCV002672774] Chr5:140796081 [GRCh38]
Chr5:140175666 [GRCh37]
Chr5:5q31.3
likely benign
NM_018909.4(PCDHA6):c.1855C>T (p.Arg619Cys) single nucleotide variant Inborn genetic diseases [RCV002855050] Chr5:140829946 [GRCh38]
Chr5:140209531 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.2044C>G (p.Gln682Glu) single nucleotide variant Inborn genetic diseases [RCV002920460] Chr5:140843365 [GRCh38]
Chr5:140222950 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.778A>G (p.Thr260Ala) single nucleotide variant Inborn genetic diseases [RCV002792866] Chr5:140828869 [GRCh38]
Chr5:140208454 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.821A>G (p.Asn274Ser) single nucleotide variant Inborn genetic diseases [RCV002807709] Chr5:140876293 [GRCh38]
Chr5:140255878 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1865G>A (p.Arg622His) single nucleotide variant Inborn genetic diseases [RCV002648683] Chr5:140870968 [GRCh38]
Chr5:140250553 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.187G>C (p.Glu63Gln) single nucleotide variant Inborn genetic diseases [RCV002714276] Chr5:140927079 [GRCh38]
Chr5:140306664 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1188G>T (p.Lys396Asn) single nucleotide variant Inborn genetic diseases [RCV002809095] Chr5:140835571 [GRCh38]
Chr5:140215156 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.283C>G (p.Leu95Val) single nucleotide variant Inborn genetic diseases [RCV002878555] Chr5:140834666 [GRCh38]
Chr5:140214251 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.857A>C (p.Glu286Ala) single nucleotide variant Inborn genetic diseases [RCV002960877] Chr5:140842178 [GRCh38]
Chr5:140221763 [GRCh37]
Chr5:5q31.3
likely benign
NM_031857.2(PCDHA9):c.1248G>C (p.Glu416Asp) single nucleotide variant Inborn genetic diseases [RCV002896459] Chr5:140849743 [GRCh38]
Chr5:140229328 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.8T>G (p.Phe3Cys) single nucleotide variant Inborn genetic diseases [RCV002748272] Chr5:140786298 [GRCh38]
Chr5:140165883 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1443C>G (p.Asp481Glu) single nucleotide variant Inborn genetic diseases [RCV002877983] Chr5:140802640 [GRCh38]
Chr5:140182225 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.406G>A (p.Val136Met) single nucleotide variant Inborn genetic diseases [RCV002832459] Chr5:140967172 [GRCh38]
Chr5:140346757 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.322T>G (p.Leu108Val) single nucleotide variant Inborn genetic diseases [RCV002668890] Chr5:140786612 [GRCh38]
Chr5:140166197 [GRCh37]
Chr5:5q31.3
likely benign
NM_018911.3(PCDHA8):c.1579G>A (p.Glu527Lys) single nucleotide variant Inborn genetic diseases [RCV002809878] Chr5:140842900 [GRCh38]
Chr5:140222485 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.2242T>G (p.Trp748Gly) single nucleotide variant Inborn genetic diseases [RCV002719317] Chr5:140877714 [GRCh38]
Chr5:140257299 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1306T>C (p.Trp436Arg) single nucleotide variant Inborn genetic diseases [RCV002920066] Chr5:140835689 [GRCh38]
Chr5:140215274 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.575T>C (p.Ile192Thr) single nucleotide variant Inborn genetic diseases [RCV002668529] Chr5:140828666 [GRCh38]
Chr5:140208251 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.460C>A (p.Leu154Ile) single nucleotide variant Inborn genetic diseases [RCV002807841] Chr5:140875932 [GRCh38]
Chr5:140255517 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.941A>G (p.Asp314Gly) single nucleotide variant Inborn genetic diseases [RCV002747808] Chr5:140927833 [GRCh38]
Chr5:140307418 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.2209C>T (p.Pro737Ser) single nucleotide variant Inborn genetic diseases [RCV002718364] Chr5:140809396 [GRCh38]
Chr5:140188981 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.497C>T (p.Ala166Val) single nucleotide variant Inborn genetic diseases [RCV002746941] Chr5:140848992 [GRCh38]
Chr5:140228577 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1565C>T (p.Pro522Leu) single nucleotide variant Inborn genetic diseases [RCV002808059] Chr5:140877037 [GRCh38]
Chr5:140256622 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1478C>G (p.Ser493Trp) single nucleotide variant Inborn genetic diseases [RCV002808072] Chr5:140802675 [GRCh38]
Chr5:140182260 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.598G>A (p.Asp200Asn) single nucleotide variant Inborn genetic diseases [RCV002854761] Chr5:140822373 [GRCh38]
Chr5:140201958 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1406C>A (p.Pro469Gln) single nucleotide variant Inborn genetic diseases [RCV002673022] Chr5:140883674 [GRCh38]
Chr5:140263259 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1705G>A (p.Ala569Thr) single nucleotide variant Inborn genetic diseases [RCV002987839] Chr5:140870808 [GRCh38]
Chr5:140250393 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.2221A>T (p.Ser741Cys) single nucleotide variant Inborn genetic diseases [RCV002719671] Chr5:140858269 [GRCh38]
Chr5:140237854 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.2284G>A (p.Glu762Lys) single nucleotide variant Inborn genetic diseases [RCV002920743] Chr5:140797248 [GRCh38]
Chr5:140176833 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1708G>C (p.Ala570Pro) single nucleotide variant Inborn genetic diseases [RCV002673250] Chr5:140808895 [GRCh38]
Chr5:140188480 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.2093T>C (p.Val698Ala) single nucleotide variant Inborn genetic diseases [RCV002832401] Chr5:140877565 [GRCh38]
Chr5:140257150 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1784G>A (p.Arg595His) single nucleotide variant Inborn genetic diseases [RCV002935361] Chr5:140829875 [GRCh38]
Chr5:140209460 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1522G>A (p.Val508Met) single nucleotide variant Inborn genetic diseases [RCV002921678] Chr5:140876994 [GRCh38]
Chr5:140256579 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1748T>C (p.Val583Ala) single nucleotide variant Inborn genetic diseases [RCV002813122] Chr5:140928640 [GRCh38]
Chr5:140308225 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1319G>C (p.Arg440Thr) single nucleotide variant Inborn genetic diseases [RCV002769105] Chr5:140876791 [GRCh38]
Chr5:140256376 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1789G>T (p.Val597Leu) single nucleotide variant Inborn genetic diseases [RCV002807804] Chr5:140788079 [GRCh38]
Chr5:140167664 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.116C>A (p.Ala39Asp) single nucleotide variant Inborn genetic diseases [RCV002877692] Chr5:140828207 [GRCh38]
Chr5:140207792 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.913T>C (p.Tyr305His) single nucleotide variant Inborn genetic diseases [RCV002940866] Chr5:140876385 [GRCh38]
Chr5:140255970 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1230C>A (p.Asp410Glu) single nucleotide variant Inborn genetic diseases [RCV002747243] Chr5:140876702 [GRCh38]
Chr5:140256287 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1501C>A (p.Arg501Ser) single nucleotide variant Inborn genetic diseases [RCV002807367] Chr5:140870604 [GRCh38]
Chr5:140250189 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.401C>G (p.Pro134Arg) single nucleotide variant Inborn genetic diseases [RCV002807401] Chr5:140828492 [GRCh38]
Chr5:140208077 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.2231C>A (p.Ala744Glu) single nucleotide variant Inborn genetic diseases [RCV002703194] Chr5:140788521 [GRCh38]
Chr5:140168106 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1414T>C (p.Cys472Arg) single nucleotide variant Inborn genetic diseases [RCV002807501] Chr5:140829505 [GRCh38]
Chr5:140209090 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.658C>T (p.Pro220Ser) single nucleotide variant Inborn genetic diseases [RCV002674193] Chr5:140807845 [GRCh38]
Chr5:140187430 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1549T>C (p.Tyr517His) single nucleotide variant Inborn genetic diseases [RCV002836092] Chr5:140823324 [GRCh38]
Chr5:140202909 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.1067T>G (p.Val356Gly) single nucleotide variant Inborn genetic diseases [RCV002940412] Chr5:140967833 [GRCh38]
Chr5:140347418 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.859A>G (p.Thr287Ala) single nucleotide variant Inborn genetic diseases [RCV002960878] Chr5:140842180 [GRCh38]
Chr5:140221765 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.329C>T (p.Ala110Val) single nucleotide variant Inborn genetic diseases [RCV002677144] Chr5:140786619 [GRCh38]
Chr5:140166204 [GRCh37]
Chr5:5q31.3
likely benign
NM_018901.4(PCDHA10):c.485G>T (p.Gly162Val) single nucleotide variant Inborn genetic diseases [RCV002724122] Chr5:140856533 [GRCh38]
Chr5:140236118 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.320A>T (p.Glu107Val) single nucleotide variant Inborn genetic diseases [RCV002680333] Chr5:140841641 [GRCh38]
Chr5:140221226 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.256G>A (p.Val86Met) single nucleotide variant Inborn genetic diseases [RCV002680586] Chr5:140841577 [GRCh38]
Chr5:140221162 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.982C>G (p.Pro328Ala) single nucleotide variant Inborn genetic diseases [RCV002652547] Chr5:140822757 [GRCh38]
Chr5:140202342 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.700G>A (p.Asp234Asn) single nucleotide variant Inborn genetic diseases [RCV002677139] Chr5:140849195 [GRCh38]
Chr5:140228780 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1715G>A (p.Gly572Asp) single nucleotide variant Inborn genetic diseases [RCV002680038] Chr5:140850210 [GRCh38]
Chr5:140229795 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.4G>A (p.Val2Met) single nucleotide variant Inborn genetic diseases [RCV002724933] Chr5:140834387 [GRCh38]
Chr5:140213972 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1637G>A (p.Gly546Asp) single nucleotide variant Inborn genetic diseases [RCV002944737] Chr5:140877109 [GRCh38]
Chr5:140256694 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.2039C>G (p.Ser680Trp) single nucleotide variant Inborn genetic diseases [RCV002944738] Chr5:140836422 [GRCh38]
Chr5:140216007 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1165G>T (p.Ala389Ser) single nucleotide variant Inborn genetic diseases [RCV002944880] Chr5:140928057 [GRCh38]
Chr5:140307642 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.22G>A (p.Asp8Asn) single nucleotide variant Inborn genetic diseases [RCV002678683] Chr5:140801219 [GRCh38]
Chr5:140180804 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.622A>G (p.Ile208Val) single nucleotide variant Inborn genetic diseases [RCV002655957] Chr5:140807809 [GRCh38]
Chr5:140187394 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1608C>A (p.Ser536Arg) single nucleotide variant Inborn genetic diseases [RCV002652548] Chr5:140850103 [GRCh38]
Chr5:140229688 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1514C>G (p.Ser505Trp) single nucleotide variant Inborn genetic diseases [RCV002679795] Chr5:140842835 [GRCh38]
Chr5:140222420 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.962C>T (p.Ala321Val) single nucleotide variant Inborn genetic diseases [RCV002723730] Chr5:140822737 [GRCh38]
Chr5:140202322 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.992C>T (p.Ser331Leu) single nucleotide variant Inborn genetic diseases [RCV002657442] Chr5:140802189 [GRCh38]
Chr5:140181774 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1921G>A (p.Asp641Asn) single nucleotide variant Inborn genetic diseases [RCV002657470] Chr5:140850416 [GRCh38]
Chr5:140230001 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.109G>C (p.Glu37Gln) single nucleotide variant Inborn genetic diseases [RCV002679451] Chr5:140786399 [GRCh38]
Chr5:140165984 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1250G>A (p.Ser417Asn) single nucleotide variant Inborn genetic diseases [RCV002680247] Chr5:140876722 [GRCh38]
Chr5:140256307 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1438C>T (p.Arg480Trp) single nucleotide variant Inborn genetic diseases [RCV002677367] Chr5:140849933 [GRCh38]
Chr5:140229518 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1708G>A (p.Val570Met) single nucleotide variant Inborn genetic diseases [RCV002678677] Chr5:140843029 [GRCh38]
Chr5:140222614 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1234G>T (p.Ala412Ser) single nucleotide variant Inborn genetic diseases [RCV002944796] Chr5:140842555 [GRCh38]
Chr5:140222140 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.1349C>T (p.Thr450Ile) single nucleotide variant Inborn genetic diseases [RCV002679517] Chr5:140968115 [GRCh38]
Chr5:140347700 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1449C>A (p.Asp483Glu) single nucleotide variant Inborn genetic diseases [RCV002723355] Chr5:140849944 [GRCh38]
Chr5:140229529 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.2293C>A (p.Pro765Thr) single nucleotide variant Inborn genetic diseases [RCV002679582] Chr5:140797257 [GRCh38]
Chr5:140176842 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.358A>G (p.Asn120Asp) single nucleotide variant Inborn genetic diseases [RCV003296310] Chr5:140869461 [GRCh38]
Chr5:140249046 [GRCh37]
Chr5:5q31.3
likely benign
NM_031857.2(PCDHA9):c.445G>A (p.Asp149Asn) single nucleotide variant Inborn genetic diseases [RCV003299258] Chr5:140848940 [GRCh38]
Chr5:140228525 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.196G>A (p.Val66Met) single nucleotide variant Inborn genetic diseases [RCV003255727] Chr5:140875668 [GRCh38]
Chr5:140255253 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1546A>C (p.Lys516Gln) single nucleotide variant Inborn genetic diseases [RCV003255731] Chr5:140883814 [GRCh38]
Chr5:140263399 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1139G>C (p.Gly380Ala) single nucleotide variant Inborn genetic diseases [RCV003189838] Chr5:140787429 [GRCh38]
Chr5:140167014 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1508C>T (p.Ser503Leu) single nucleotide variant Inborn genetic diseases [RCV003189871] Chr5:140850003 [GRCh38]
Chr5:140229588 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2276C>T (p.Ser759Phe) single nucleotide variant Inborn genetic diseases [RCV003195597] Chr5:140871379 [GRCh38]
Chr5:140250964 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.2104A>C (p.Ile702Leu) single nucleotide variant Inborn genetic diseases [RCV003206976] Chr5:140797068 [GRCh38]
Chr5:140176653 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1529T>C (p.Val510Ala) single nucleotide variant Inborn genetic diseases [RCV003184400] Chr5:140787819 [GRCh38]
Chr5:140167404 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.848C>T (p.Thr283Met) single nucleotide variant Inborn genetic diseases [RCV003215307] Chr5:140802045 [GRCh38]
Chr5:140181630 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1231G>T (p.Ala411Ser) single nucleotide variant Inborn genetic diseases [RCV003192734] Chr5:140857279 [GRCh38]
Chr5:140236864 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.356T>G (p.Val119Gly) single nucleotide variant Inborn genetic diseases [RCV003192738] Chr5:140801553 [GRCh38]
Chr5:140181138 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1999T>A (p.Phe667Ile) single nucleotide variant Inborn genetic diseases [RCV003220292] Chr5:140928891 [GRCh38]
Chr5:140308476 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.2018C>G (p.Pro673Arg) single nucleotide variant Inborn genetic diseases [RCV003200951] Chr5:140928910 [GRCh38]
Chr5:140308495 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1763G>A (p.Gly588Asp) single nucleotide variant Inborn genetic diseases [RCV003220591] Chr5:140802960 [GRCh38]
Chr5:140182545 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.853C>T (p.Leu285Phe) single nucleotide variant Inborn genetic diseases [RCV003203854] Chr5:140822628 [GRCh38]
Chr5:140202213 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.2090A>T (p.Tyr697Phe) single nucleotide variant Inborn genetic diseases [RCV003190906] Chr5:140858138 [GRCh38]
Chr5:140237723 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.263C>G (p.Ser88Cys) single nucleotide variant Inborn genetic diseases [RCV003173238] Chr5:140875735 [GRCh38]
Chr5:140255320 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1372T>C (p.Ser458Pro) single nucleotide variant Inborn genetic diseases [RCV003185543] Chr5:140849867 [GRCh38]
Chr5:140229452 [GRCh37]
Chr5:5q31.3
likely benign
NM_018903.4(PCDHA12):c.1853C>T (p.Ala618Val) single nucleotide variant Inborn genetic diseases [RCV003214217] Chr5:140877325 [GRCh38]
Chr5:140256910 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.166C>A (p.Leu56Met) single nucleotide variant Inborn genetic diseases [RCV003180795] Chr5:140795130 [GRCh38]
Chr5:140174715 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1882A>G (p.Thr628Ala) single nucleotide variant Inborn genetic diseases [RCV003216981] Chr5:140809069 [GRCh38]
Chr5:140188654 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.776A>G (p.Gln259Arg) single nucleotide variant Inborn genetic diseases [RCV003211443] Chr5:140967542 [GRCh38]
Chr5:140347127 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.2072C>A (p.Ala691Glu) single nucleotide variant Inborn genetic diseases [RCV003179757] Chr5:140843393 [GRCh38]
Chr5:140222978 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1970C>T (p.Pro657Leu) single nucleotide variant Inborn genetic diseases [RCV003206299] Chr5:140823745 [GRCh38]
Chr5:140203330 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1885G>A (p.Glu629Lys) single nucleotide variant Inborn genetic diseases [RCV003210304] Chr5:140870988 [GRCh38]
Chr5:140250573 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2165G>T (p.Trp722Leu) single nucleotide variant Inborn genetic diseases [RCV003174299] Chr5:140871268 [GRCh38]
Chr5:140250853 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.517A>G (p.Met173Val) single nucleotide variant Inborn genetic diseases [RCV003212950] Chr5:140927409 [GRCh38]
Chr5:140306994 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1006G>T (p.Val336Phe) single nucleotide variant Inborn genetic diseases [RCV003287180] Chr5:140787296 [GRCh38]
Chr5:140166881 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1735G>A (p.Glu579Lys) single nucleotide variant Inborn genetic diseases [RCV003186468] Chr5:140802932 [GRCh38]
Chr5:140182517 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.5T>A (p.Val2Glu) single nucleotide variant Inborn genetic diseases [RCV003212071] Chr5:140786295 [GRCh38]
Chr5:140165880 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.125C>A (p.Thr42Asn) single nucleotide variant Inborn genetic diseases [RCV003209565] Chr5:140821900 [GRCh38]
Chr5:140201485 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1337C>G (p.Ala446Gly) single nucleotide variant Inborn genetic diseases [RCV003209566] Chr5:140849832 [GRCh38]
Chr5:140229417 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1688C>T (p.Pro563Leu) single nucleotide variant Inborn genetic diseases [RCV003209680] Chr5:140836071 [GRCh38]
Chr5:140215656 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.630A>C (p.Leu210Phe) single nucleotide variant Inborn genetic diseases [RCV003188357] Chr5:140807817 [GRCh38]
Chr5:140187402 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1964G>A (p.Gly655Asp) single nucleotide variant Inborn genetic diseases [RCV003214989] Chr5:140809151 [GRCh38]
Chr5:140188736 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1079G>T (p.Arg360Leu) single nucleotide variant Inborn genetic diseases [RCV003208151] Chr5:140829170 [GRCh38]
Chr5:140208755 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.2075A>T (p.Glu692Val) single nucleotide variant Inborn genetic diseases [RCV003220479] Chr5:140836458 [GRCh38]
Chr5:140216043 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1778T>C (p.Val593Ala) single nucleotide variant Inborn genetic diseases [RCV003217805] Chr5:140823553 [GRCh38]
Chr5:140203138 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1781G>C (p.Arg594Pro) single nucleotide variant Inborn genetic diseases [RCV003211428] Chr5:140823556 [GRCh38]
Chr5:140203141 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1384G>A (p.Val462Met) single nucleotide variant Inborn genetic diseases [RCV003212674] Chr5:140835767 [GRCh38]
Chr5:140215352 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1671C>G (p.Asp557Glu) single nucleotide variant Inborn genetic diseases [RCV003190907] Chr5:140842992 [GRCh38]
Chr5:140222577 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.278A>T (p.Glu93Val) single nucleotide variant Inborn genetic diseases [RCV003196536] Chr5:140848773 [GRCh38]
Chr5:140228358 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1633G>A (p.Gly545Ser) single nucleotide variant Inborn genetic diseases [RCV003183740] Chr5:140823408 [GRCh38]
Chr5:140202993 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.521C>T (p.Pro174Leu) single nucleotide variant Inborn genetic diseases [RCV003179209] Chr5:140786811 [GRCh38]
Chr5:140166396 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1866C>A (p.Phe622Leu) single nucleotide variant Inborn genetic diseases [RCV003200135] Chr5:140809053 [GRCh38]
Chr5:140188638 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1655A>C (p.Gln552Pro) single nucleotide variant Inborn genetic diseases [RCV003199993] Chr5:140796619 [GRCh38]
Chr5:140176204 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1578G>C (p.Glu526Asp) single nucleotide variant Inborn genetic diseases [RCV003202220] Chr5:140787868 [GRCh38]
Chr5:140167453 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.510A>T (p.Lys170Asn) single nucleotide variant Inborn genetic diseases [RCV003206100] Chr5:140856558 [GRCh38]
Chr5:140236143 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.272G>T (p.Arg91Leu) single nucleotide variant Inborn genetic diseases [RCV003198796] Chr5:140856320 [GRCh38]
Chr5:140235905 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1375G>A (p.Glu459Lys) single nucleotide variant Inborn genetic diseases [RCV003198933] Chr5:140808562 [GRCh38]
Chr5:140188147 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.668C>T (p.Thr223Ile) single nucleotide variant Inborn genetic diseases [RCV003206101] Chr5:140849163 [GRCh38]
Chr5:140228748 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.2248T>A (p.Ser750Thr) single nucleotide variant Inborn genetic diseases [RCV003199051] Chr5:140824023 [GRCh38]
Chr5:140203608 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1931G>A (p.Arg644His) single nucleotide variant Inborn genetic diseases [RCV003206354] Chr5:140803128 [GRCh38]
Chr5:140182713 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1841G>T (p.Gly614Val) single nucleotide variant Inborn genetic diseases [RCV003211509] Chr5:140803038 [GRCh38]
Chr5:140182623 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.533T>G (p.Phe178Cys) single nucleotide variant Inborn genetic diseases [RCV003199407] Chr5:140849028 [GRCh38]
Chr5:140228613 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1114A>G (p.Ser372Gly) single nucleotide variant Inborn genetic diseases [RCV003214244] Chr5:140870217 [GRCh38]
Chr5:140249802 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.291G>C (p.Gln97His) single nucleotide variant Inborn genetic diseases [RCV003199557] Chr5:140786581 [GRCh38]
Chr5:140166166 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.143C>T (p.Ala48Val) single nucleotide variant Inborn genetic diseases [RCV003282780] Chr5:140856191 [GRCh38]
Chr5:140235776 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1277C>G (p.Thr426Ser) single nucleotide variant Inborn genetic diseases [RCV003302403] Chr5:140883545 [GRCh38]
Chr5:140263130 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1318A>C (p.Ser440Arg) single nucleotide variant Inborn genetic diseases [RCV003302404] Chr5:140883586 [GRCh38]
Chr5:140263171 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1361C>T (p.Ala454Val) single nucleotide variant Inborn genetic diseases [RCV003302405] Chr5:140883629 [GRCh38]
Chr5:140263214 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1440G>C (p.Gln480His) single nucleotide variant Inborn genetic diseases [RCV003302407] Chr5:140883708 [GRCh38]
Chr5:140263293 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1674C>G (p.Asn558Lys) single nucleotide variant Inborn genetic diseases [RCV003178009] Chr5:140857722 [GRCh38]
Chr5:140237307 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.95G>C (p.Arg32Pro) single nucleotide variant Inborn genetic diseases [RCV003175093] Chr5:140795059 [GRCh38]
Chr5:140174644 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.802G>T (p.Asp268Tyr) single nucleotide variant Inborn genetic diseases [RCV003300429] Chr5:140801999 [GRCh38]
Chr5:140181584 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1352A>G (p.Asn451Ser) single nucleotide variant Inborn genetic diseases [RCV003281429] Chr5:140829443 [GRCh38]
Chr5:140209028 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.2351A>T (p.Glu784Val) single nucleotide variant Inborn genetic diseases [RCV003258178] Chr5:140797315 [GRCh38]
Chr5:140176900 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2233G>A (p.Gly745Arg) single nucleotide variant Inborn genetic diseases [RCV003203954] Chr5:140871336 [GRCh38]
Chr5:140250921 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.151G>A (p.Asp51Asn) single nucleotide variant Inborn genetic diseases [RCV003210264] Chr5:140882419 [GRCh38]
Chr5:140262004 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1504C>T (p.Arg502Cys) single nucleotide variant Inborn genetic diseases [RCV003172936] Chr5:140808691 [GRCh38]
Chr5:140188276 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.647A>T (p.Asp216Val) single nucleotide variant Inborn genetic diseases [RCV003210331] Chr5:140795611 [GRCh38]
Chr5:140175196 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.221T>C (p.Leu74Pro) single nucleotide variant Inborn genetic diseases [RCV003173233] Chr5:140856269 [GRCh38]
Chr5:140235854 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.2090A>G (p.Asn697Ser) single nucleotide variant Inborn genetic diseases [RCV003197913] Chr5:140884358 [GRCh38]
Chr5:140263943 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1780G>A (p.Val594Met) single nucleotide variant Inborn genetic diseases [RCV003304142] Chr5:140829871 [GRCh38]
Chr5:140209456 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.702T>A (p.Asp234Glu) single nucleotide variant Inborn genetic diseases [RCV003205826] Chr5:140807889 [GRCh38]
Chr5:140187474 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1123G>C (p.Val375Leu) single nucleotide variant Inborn genetic diseases [RCV003205958] Chr5:140928015 [GRCh38]
Chr5:140307600 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1828G>A (p.Glu610Lys) single nucleotide variant Inborn genetic diseases [RCV003192737] Chr5:140788118 [GRCh38]
Chr5:140167703 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1933T>C (p.Tyr645His) single nucleotide variant Inborn genetic diseases [RCV003186017] Chr5:140788223 [GRCh38]
Chr5:140167808 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1288G>A (p.Gly430Ser) single nucleotide variant Inborn genetic diseases [RCV003215237] Chr5:140870391 [GRCh38]
Chr5:140249976 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1504C>T (p.Pro502Ser) single nucleotide variant Inborn genetic diseases [RCV003217990] Chr5:140823279 [GRCh38]
Chr5:140202864 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1984G>A (p.Ala662Thr) single nucleotide variant Inborn genetic diseases [RCV003220690] Chr5:140858032 [GRCh38]
Chr5:140237617 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1750T>C (p.Ser584Pro) single nucleotide variant Inborn genetic diseases [RCV003184022] Chr5:140877222 [GRCh38]
Chr5:140256807 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1844G>A (p.Gly615Asp) single nucleotide variant Inborn genetic diseases [RCV003215818] Chr5:140870947 [GRCh38]
Chr5:140250532 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1253C>T (p.Ser418Leu) single nucleotide variant Inborn genetic diseases [RCV003220956] Chr5:140823028 [GRCh38]
Chr5:140202613 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.319G>A (p.Glu107Lys) single nucleotide variant Inborn genetic diseases [RCV003194112] Chr5:140786609 [GRCh38]
Chr5:140166194 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.2054G>A (p.Gly685Asp) single nucleotide variant Inborn genetic diseases [RCV003206733] Chr5:140788344 [GRCh38]
Chr5:140167929 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.2306C>A (p.Ala769Asp) single nucleotide variant Inborn genetic diseases [RCV003197571] Chr5:140858354 [GRCh38]
Chr5:140237939 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.914T>C (p.Ile305Thr) single nucleotide variant Inborn genetic diseases [RCV003210209] Chr5:140787204 [GRCh38]
Chr5:140166789 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.857C>A (p.Ala286Glu) single nucleotide variant Inborn genetic diseases [RCV003189231] Chr5:140828948 [GRCh38]
Chr5:140208533 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.134T>C (p.Val45Ala) single nucleotide variant Inborn genetic diseases [RCV003194666] Chr5:140786424 [GRCh38]
Chr5:140166009 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1189C>A (p.Leu397Met) single nucleotide variant Inborn genetic diseases [RCV003217344] Chr5:140883457 [GRCh38]
Chr5:140263042 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1190T>G (p.Leu397Arg) single nucleotide variant Inborn genetic diseases [RCV003217345] Chr5:140883458 [GRCh38]
Chr5:140263043 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1685C>A (p.Ala562Glu) single nucleotide variant Inborn genetic diseases [RCV003219965] Chr5:140829776 [GRCh38]
Chr5:140209361 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1405C>G (p.Pro469Ala) single nucleotide variant Inborn genetic diseases [RCV003302406] Chr5:140883673 [GRCh38]
Chr5:140263258 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1180T>G (p.Phe394Val) single nucleotide variant Inborn genetic diseases [RCV003309429] Chr5:140822955 [GRCh38]
Chr5:140202540 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.1528G>A (p.Val510Met) single nucleotide variant Inborn genetic diseases [RCV003309522] Chr5:140796492 [GRCh38]
Chr5:140176077 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.2288G>A (p.Gly763Glu) single nucleotide variant Inborn genetic diseases [RCV003262729] Chr5:140843609 [GRCh38]
Chr5:140223194 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1628C>G (p.Pro543Arg) single nucleotide variant Inborn genetic diseases [RCV003306505] Chr5:140850123 [GRCh38]
Chr5:140229708 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1457A>G (p.Glu486Gly) single nucleotide variant Inborn genetic diseases [RCV003304812] Chr5:140842778 [GRCh38]
Chr5:140222363 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1649C>T (p.Thr550Met) single nucleotide variant Inborn genetic diseases [RCV003356844] Chr5:140850144 [GRCh38]
Chr5:140229729 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.2296G>A (p.Asp766Asn) single nucleotide variant Inborn genetic diseases [RCV003341086] Chr5:140858344 [GRCh38]
Chr5:140237929 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1734C>G (p.Ser578Arg) single nucleotide variant Inborn genetic diseases [RCV003341087] Chr5:140850229 [GRCh38]
Chr5:140229814 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1813T>A (p.Trp605Arg) single nucleotide variant Inborn genetic diseases [RCV003357481] Chr5:140857861 [GRCh38]
Chr5:140237446 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1726G>A (p.Ala576Thr) single nucleotide variant Inborn genetic diseases [RCV003359040] Chr5:140877198 [GRCh38]
Chr5:140256783 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1067G>A (p.Gly356Asp) single nucleotide variant Inborn genetic diseases [RCV003343417] Chr5:140927959 [GRCh38]
Chr5:140307544 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.605G>T (p.Arg202Leu) single nucleotide variant Inborn genetic diseases [RCV003378507] Chr5:140801802 [GRCh38]
Chr5:140181387 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.2197C>T (p.Arg733Cys) single nucleotide variant Inborn genetic diseases [RCV003344465] Chr5:140968963 [GRCh38]
Chr5:140348548 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.1525T>C (p.Ser509Pro) single nucleotide variant Inborn genetic diseases [RCV003358810] Chr5:140787815 [GRCh38]
Chr5:140167400 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.484A>C (p.Ile162Leu) single nucleotide variant Inborn genetic diseases [RCV003379299] Chr5:140786774 [GRCh38]
Chr5:140166359 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.2275T>G (p.Cys759Gly) single nucleotide variant Inborn genetic diseases [RCV003379300] Chr5:140836658 [GRCh38]
Chr5:140216243 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1915C>T (p.Arg639Trp) single nucleotide variant Inborn genetic diseases [RCV003359670] Chr5:140928807 [GRCh38]
Chr5:140308392 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.31G>T (p.Gly11Cys) single nucleotide variant Inborn genetic diseases [RCV003359629] Chr5:140848526 [GRCh38]
Chr5:140228111 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.951A>C (p.Glu317Asp) single nucleotide variant Inborn genetic diseases [RCV003344518] Chr5:140802148 [GRCh38]
Chr5:140181733 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.2171C>G (p.Ser724Trp) single nucleotide variant Inborn genetic diseases [RCV003358507] Chr5:140830262 [GRCh38]
Chr5:140209847 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1993C>T (p.Leu665Phe) single nucleotide variant Inborn genetic diseases [RCV003359955] Chr5:140858041 [GRCh38]
Chr5:140237626 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.2207C>A (p.Ala736Glu) single nucleotide variant Inborn genetic diseases [RCV003381089] Chr5:140968973 [GRCh38]
Chr5:140348558 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1378T>C (p.Tyr460His) single nucleotide variant Inborn genetic diseases [RCV003345568] Chr5:140802575 [GRCh38]
Chr5:140182160 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1923C>G (p.Asp641Glu) single nucleotide variant Inborn genetic diseases [RCV003361205] Chr5:140843244 [GRCh38]
Chr5:140222829 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1259C>G (p.Ala420Gly) single nucleotide variant Inborn genetic diseases [RCV003361654] Chr5:140842580 [GRCh38]
Chr5:140222165 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.1685C>T (p.Pro562Leu) single nucleotide variant Inborn genetic diseases [RCV003345963] Chr5:140823460 [GRCh38]
Chr5:140203045 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.2090A>G (p.Asn697Ser) single nucleotide variant Inborn genetic diseases [RCV003344776] Chr5:140830181 [GRCh38]
Chr5:140209766 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.830T>C (p.Ile277Thr) single nucleotide variant Inborn genetic diseases [RCV003361257] Chr5:140795794 [GRCh38]
Chr5:140175379 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.790G>T (p.Val264Phe) single nucleotide variant Inborn genetic diseases [RCV003360376] Chr5:140801987 [GRCh38]
Chr5:140181572 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.353A>T (p.His118Leu) single nucleotide variant Inborn genetic diseases [RCV003379413] Chr5:140786643 [GRCh38]
Chr5:140166228 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.1415G>C (p.Cys472Ser) single nucleotide variant Inborn genetic diseases [RCV003360475] Chr5:140835798 [GRCh38]
Chr5:140215383 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.125C>G (p.Thr42Ser) single nucleotide variant Inborn genetic diseases [RCV003345213] Chr5:140821900 [GRCh38]
Chr5:140201485 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.604G>A (p.Val202Met) single nucleotide variant Inborn genetic diseases [RCV003371568] Chr5:140927496 [GRCh38]
Chr5:140307081 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.274C>A (p.Arg92Ser) single nucleotide variant Inborn genetic diseases [RCV003368817] Chr5:140834657 [GRCh38]
Chr5:140214242 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.286T>G (p.Cys96Gly) single nucleotide variant Inborn genetic diseases [RCV003376152] Chr5:140882554 [GRCh38]
Chr5:140262139 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018906.3(PCDHA3):c.1726G>T (p.Ala576Ser) single nucleotide variant Inborn genetic diseases [RCV003371849] Chr5:140802923 [GRCh38]
Chr5:140182508 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.856G>A (p.Val286Met) single nucleotide variant Inborn genetic diseases [RCV003347967] Chr5:140927748 [GRCh38]
Chr5:140307333 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.2018G>A (p.Gly673Asp) single nucleotide variant Inborn genetic diseases [RCV003350590] Chr5:140830109 [GRCh38]
Chr5:140209694 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.848T>C (p.Leu283Ser) single nucleotide variant Inborn genetic diseases [RCV003383422] Chr5:140856896 [GRCh38]
Chr5:140236481 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018905.3(PCDHA2):c.627T>A (p.Asn209Lys) single nucleotide variant Inborn genetic diseases [RCV003364497] Chr5:140795591 [GRCh38]
Chr5:140175176 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1730C>T (p.Ala577Val) single nucleotide variant Inborn genetic diseases [RCV003376920] Chr5:140843051 [GRCh38]
Chr5:140222636 [GRCh37]
Chr5:5q31.3
likely benign
NM_018904.3(PCDHA13):c.140G>C (p.Arg47Pro) single nucleotide variant Inborn genetic diseases [RCV003366972] Chr5:140882408 [GRCh38]
Chr5:140261993 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018899.6(PCDHAC2):c.1582A>G (p.Ser528Gly) single nucleotide variant Inborn genetic diseases [RCV003348290] Chr5:140968348 [GRCh38]
Chr5:140347933 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.1214C>G (p.Ser405Trp) single nucleotide variant Inborn genetic diseases [RCV003351034] Chr5:140870317 [GRCh38]
Chr5:140249902 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.955C>T (p.Pro319Ser) single nucleotide variant Inborn genetic diseases [RCV003364726] Chr5:140835338 [GRCh38]
Chr5:140214923 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.719C>T (p.Pro240Leu) single nucleotide variant Inborn genetic diseases [RCV003355131] Chr5:140882987 [GRCh38]
Chr5:140262572 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1195A>T (p.Ile399Phe) single nucleotide variant Inborn genetic diseases [RCV003369708] Chr5:140928087 [GRCh38]
Chr5:140307672 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1289G>A (p.Gly430Glu) single nucleotide variant Inborn genetic diseases [RCV003348430] Chr5:140849784 [GRCh38]
Chr5:140229369 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1663G>A (p.Val555Met) single nucleotide variant Inborn genetic diseases [RCV003351272] Chr5:140842984 [GRCh38]
Chr5:140222569 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1664T>G (p.Val555Gly) single nucleotide variant Inborn genetic diseases [RCV003373969] Chr5:140877136 [GRCh38]
Chr5:140256721 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.2162G>T (p.Cys721Phe) single nucleotide variant Inborn genetic diseases [RCV003364932] Chr5:140858210 [GRCh38]
Chr5:140237795 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1637G>A (p.Gly546Asp) single nucleotide variant Inborn genetic diseases [RCV003374247] Chr5:140842958 [GRCh38]
Chr5:140222543 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.1070C>T (p.Pro357Leu) single nucleotide variant Inborn genetic diseases [RCV003384046] Chr5:140857118 [GRCh38]
Chr5:140236703 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.332A>T (p.Glu111Val) single nucleotide variant Inborn genetic diseases [RCV003374408] Chr5:140834715 [GRCh38]
Chr5:140214300 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.1193T>C (p.Val398Ala) single nucleotide variant Inborn genetic diseases [RCV003370887] Chr5:140876665 [GRCh38]
Chr5:140256250 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1444G>A (p.Ala482Thr) single nucleotide variant Inborn genetic diseases [RCV003353855] Chr5:140883712 [GRCh38]
Chr5:140263297 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.1700A>C (p.Glu567Ala) single nucleotide variant Inborn genetic diseases [RCV003347597] Chr5:140843021 [GRCh38]
Chr5:140222606 [GRCh37]
Chr5:5q31.3
likely benign
NM_018908.3(PCDHA5):c.1447G>A (p.Ala483Thr) single nucleotide variant Inborn genetic diseases [RCV003346925] Chr5:140823222 [GRCh38]
Chr5:140202807 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.849G>T (p.Arg283Ser) single nucleotide variant Inborn genetic diseases [RCV003372425] Chr5:140883117 [GRCh38]
Chr5:140262702 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.211G>T (p.Gly71Trp) single nucleotide variant Inborn genetic diseases [RCV003349756] Chr5:140856259 [GRCh38]
Chr5:140235844 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.2134G>T (p.Val712Leu) single nucleotide variant Inborn genetic diseases [RCV003373137] Chr5:140884402 [GRCh38]
Chr5:140263987 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1528G>A (p.Val510Met) single nucleotide variant Inborn genetic diseases [RCV003373138] Chr5:140829619 [GRCh38]
Chr5:140209204 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.2218G>A (p.Val740Met) single nucleotide variant Inborn genetic diseases [RCV003373139] Chr5:140788508 [GRCh38]
Chr5:140168093 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.2306T>C (p.Met769Thr) single nucleotide variant Inborn genetic diseases [RCV003364777] Chr5:140871409 [GRCh38]
Chr5:140250994 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1010T>C (p.Leu337Ser) single nucleotide variant Inborn genetic diseases [RCV003364396] Chr5:140883278 [GRCh38]
Chr5:140262863 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018908.3(PCDHA5):c.506A>G (p.Tyr169Cys) single nucleotide variant Inborn genetic diseases [RCV003356411] Chr5:140822281 [GRCh38]
Chr5:140201866 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018907.4(PCDHA4):c.1490G>T (p.Arg497Leu) single nucleotide variant Inborn genetic diseases [RCV003367237] Chr5:140808677 [GRCh38]
Chr5:140188262 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018900.4(PCDHA1):c.23G>A (p.Gly8Asp) single nucleotide variant Inborn genetic diseases [RCV003362593] Chr5:140786313 [GRCh38]
Chr5:140165898 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018911.3(PCDHA8):c.275G>T (p.Arg92Leu) single nucleotide variant Inborn genetic diseases [RCV003347236] Chr5:140841596 [GRCh38]
Chr5:140221181 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.989T>C (p.Val330Ala) single nucleotide variant Inborn genetic diseases [RCV003347858] Chr5:140927881 [GRCh38]
Chr5:140307466 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.995A>G (p.His332Arg) single nucleotide variant Inborn genetic diseases [RCV003374500] Chr5:140870098 [GRCh38]
Chr5:140249683 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018910.3(PCDHA7):c.2036C>G (p.Ser679Trp) single nucleotide variant Inborn genetic diseases [RCV003368461] Chr5:140836419 [GRCh38]
Chr5:140216004 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_031857.2(PCDHA9):c.1205A>G (p.Lys402Arg) single nucleotide variant Inborn genetic diseases [RCV003381902] Chr5:140849700 [GRCh38]
Chr5:140229285 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.182C>A (p.Pro61Gln) single nucleotide variant Inborn genetic diseases [RCV003383515] Chr5:140882450 [GRCh38]
Chr5:140262035 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.2141C>G (p.Thr714Arg) single nucleotide variant Inborn genetic diseases [RCV003383516] Chr5:140884409 [GRCh38]
Chr5:140263994 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018909.4(PCDHA6):c.1796C>T (p.Ala599Val) single nucleotide variant Inborn genetic diseases [RCV003386281] Chr5:140829887 [GRCh38]
Chr5:140209472 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018903.4(PCDHA12):c.145G>T (p.Ala49Ser) single nucleotide variant Inborn genetic diseases [RCV003375071] Chr5:140875617 [GRCh38]
Chr5:140255202 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018901.4(PCDHA10):c.154G>A (p.Gly52Arg) single nucleotide variant Inborn genetic diseases [RCV003363382] Chr5:140856202 [GRCh38]
Chr5:140235787 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018902.5(PCDHA11):c.653G>A (p.Gly218Glu) single nucleotide variant Inborn genetic diseases [RCV003366200] Chr5:140869756 [GRCh38]
Chr5:140249341 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1735T>G (p.Leu579Val) single nucleotide variant Inborn genetic diseases [RCV003369325] Chr5:140928627 [GRCh38]
Chr5:140308212 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018898.5(PCDHAC1):c.1771G>T (p.Gly591Cys) single nucleotide variant Inborn genetic diseases [RCV003386675] Chr5:140928663 [GRCh38]
Chr5:140308248 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.850C>G (p.Pro284Ala) single nucleotide variant Inborn genetic diseases [RCV003369648] Chr5:140883118 [GRCh38]
Chr5:140262703 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018904.3(PCDHA13):c.1955A>G (p.Lys652Arg) single nucleotide variant Inborn genetic diseases [RCV003371965] Chr5:140884223 [GRCh38]
Chr5:140263808 [GRCh37]
Chr5:5q31.3
uncertain significance
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_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_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_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_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_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_018900.4(PCDHA1):c.1345A>C (p.Asn449His) single nucleotide variant not provided [RCV003436466] Chr5:140787635 [GRCh38]
Chr5:140167220 [GRCh37]
Chr5:5q31.3
likely benign
NM_018900.4(PCDHA1):c.1761G>C (p.Ala587=) single nucleotide variant not provided [RCV003436467] Chr5:140788051 [GRCh38]
Chr5:140167636 [GRCh37]
Chr5:5q31.3
likely benign
NM_018906.3(PCDHA3):c.2058C>T (p.Ala686=) single nucleotide variant not provided [RCV003436472] Chr5:140803255 [GRCh38]
Chr5:140182840 [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_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_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_018905.3(PCDHA2):c.1866C>T (p.Phe622=) single nucleotide variant not provided [RCV003436469] Chr5:140796830 [GRCh38]
Chr5:140176415 [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_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_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_018906.3(PCDHA3):c.1338C>T (p.Ala446=) single nucleotide variant not provided [RCV003436471] Chr5:140802535 [GRCh38]
Chr5:140182120 [GRCh37]
Chr5:5q31.3
likely benign
NM_018900.4(PCDHA1):c.2394+59919G>C single nucleotide variant not provided [RCV003429793] Chr5:140848603 [GRCh38]
Chr5:140228188 [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_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+53642A>G single nucleotide variant not provided [RCV003429807] Chr5:140863214 [GRCh38]
Chr5:140242799 [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_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_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_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.405A>G (p.Ala135=) single nucleotide variant not provided [RCV003429783] Chr5:140807592 [GRCh38]
Chr5:140187177 [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_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_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_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.1863T>C (p.Phe621=) single nucleotide variant not provided [RCV003429802] Chr5:140857911 [GRCh38]
Chr5:140237496 [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.1428G>C (p.Thr476=) single nucleotide variant not provided [RCV003429815] Chr5:140883696 [GRCh38]
Chr5:140263281 [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.1161C>G (p.Leu387=) single nucleotide variant not provided [RCV003429820] Chr5:140967927 [GRCh38]
Chr5:140347512 [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_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_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_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_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_031857.2(PCDHA9):c.123C>T (p.His41=) single nucleotide variant not provided [RCV003429794] Chr5:140848618 [GRCh38]
Chr5:140228203 [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_018900.4(PCDHA1):c.2394+60504G>A single nucleotide variant not provided [RCV003429798] Chr5:140849188 [GRCh38]
Chr5:140228773 [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_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_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_018905.3(PCDHA2):c.420C>G (p.Ile140Met) single nucleotide variant not provided [RCV003436468] Chr5:140795384 [GRCh38]
Chr5:140174969 [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_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.2017C>T (p.Gln673Ter) single nucleotide variant not provided [RCV003429803] Chr5:140858065 [GRCh38]
Chr5:140237650 [GRCh37]
Chr5:5q31.3
likely benign
NM_018905.3(PCDHA2):c.2080G>A (p.Val694Met) single nucleotide variant not provided [RCV003436470] Chr5:140797044 [GRCh38]
Chr5:140176629 [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_018900.4(PCDHA1):c.2394+59913C>G single nucleotide variant not provided [RCV003428623] Chr5:140848597 [GRCh38]
Chr5:140228182 [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_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_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_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_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_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_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_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
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


Sequence


Promoters
RGD ID:6870912
Promoter ID:EPDNEW_H8621
Type:initiation region
Name:PCDHA13_2
Description:protocadherin alpha 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8622  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,882,124 - 140,882,184EPDNEW
RGD ID:6870914
Promoter ID:EPDNEW_H8622
Type:single initiation site
Name:PCDHA13_1
Description:protocadherin alpha 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8621  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,883,354 - 140,883,414EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC PCDHA@ COSMIC
GTEx PCDHA@ GTEx
HGNC ID HGNC:8662 ENTREZGENE
Human Proteome Map PCDHA@ Human Proteome Map
NCBI Gene PCDHA@ ENTREZGENE
PharmGKB PA35501 PharmGKB


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 PCDHA@  protocadherin alpha cluster, complex locus    protocadherin alpha cluster  Symbol and/or name change 5135510 APPROVED