PCDHGB3 (protocadherin gamma subfamily B, 3) - Rat Genome Database

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Gene: PCDHGB3 (protocadherin gamma subfamily B, 3) Homo sapiens
Analyze
Symbol: PCDHGB3
Name: protocadherin gamma subfamily B, 3
RGD ID: 1343116
HGNC Page HGNC:8710
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PCDH-GAMMA-B3; protocadherin gamma-B3
RGD Orthologs
Rat
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,370,242 - 141,512,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,370,242 - 141,512,975 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,749,809 - 140,892,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,730,146 - 140,872,730 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,730,145 - 140,732,590NCBI
Celera5136,826,787 - 136,969,282 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,895,037 - 136,037,386 (+)NCBIHuRef
CHM1_15140,183,169 - 140,325,823 (+)NCBICHM1_1
T2T-CHM13v2.05141,895,870 - 142,038,959 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10380929   PMID:10716726   PMID:10817752   PMID:10835267   PMID:11230163   PMID:12477932   PMID:21873635   PMID:27472898   PMID:28514442   PMID:29676528   PMID:33961781  


Genomics

Comparative Map Data
PCDHGB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,370,242 - 141,512,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,370,242 - 141,512,975 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,749,809 - 140,892,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,730,146 - 140,872,730 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,730,145 - 140,732,590NCBI
Celera5136,826,787 - 136,969,282 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,895,037 - 136,037,386 (+)NCBIHuRef
CHM1_15140,183,169 - 140,325,823 (+)NCBICHM1_1
T2T-CHM13v2.05141,895,870 - 142,038,959 (+)NCBIT2T-CHM13v2.0
Pcdhgb8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81829,839,560 - 29,919,095 (+)NCBIGRCr8
mRatBN7.21829,588,327 - 29,667,865 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1829,493,954 - 29,667,868 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1829,692,665 - 29,772,190 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01830,454,672 - 30,534,170 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01829,789,998 - 29,869,511 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01830,909,318 - 30,971,113 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1830,909,490 - 30,912,592 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01830,603,545 - 30,662,065 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41830,669,478 - 30,754,205 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11830,696,295 - 30,698,325 (+)NCBI
Celera1829,234,816 - 29,311,954 (+)NCBICelera
Cytogenetic Map18p11NCBI
PCDHGB3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12343,987,811 - 43,992,714 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603433,861,224 - 33,867,923 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PCDHGB3
501 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_003735.2(PCDHGA12):c.1619C>T (p.Pro540Leu) single nucleotide variant Malignant melanoma [RCV000061164] Chr5:141432378 [GRCh38]
Chr5:140811945 [GRCh37]
Chr5:140792129 [NCBI36]
Chr5:5q31.3
not provided
NM_032402.1(PCDHGC3):c.1630A>C (p.Thr544Pro) single nucleotide variant Malignant melanoma [RCV000061165] Chr5:141477746 [GRCh38]
Chr5:140857313 [GRCh37]
Chr5:140837497 [NCBI36]
Chr5:5q31.3
not provided
NM_018918.2(PCDHGA5):c.2337C>T (p.Leu779=) single nucleotide variant Malignant melanoma [RCV000066742] Chr5:141366667 [GRCh38]
Chr5:140746234 [GRCh37]
Chr5:140726418 [NCBI36]
Chr5:5q31.3
not provided
NM_018918.2(PCDHGA5):c.2338C>T (p.Leu780Phe) single nucleotide variant Malignant melanoma [RCV000066743] Chr5:141366668 [GRCh38]
Chr5:140746235 [GRCh37]
Chr5:140726419 [NCBI36]
Chr5:5q31.3
not provided
NM_032097.2(PCDHGB3):c.1245C>T (p.Ile415=) single nucleotide variant Malignant melanoma [RCV000066744] Chr5:141371639 [GRCh38]
Chr5:140751206 [GRCh37]
Chr5:140731390 [NCBI36]
Chr5:5q31.3
not provided
NM_018913.2(PCDHGA10):c.1863C>T (p.Phe621=) single nucleotide variant Malignant melanoma [RCV000066748] Chr5:141415038 [GRCh38]
Chr5:140794605 [GRCh37]
Chr5:140774789 [NCBI36]
Chr5:5q31.3
not provided
NM_018929.2(PCDHGC5):c.2080C>T (p.Leu694Phe) single nucleotide variant Malignant melanoma [RCV000066749] Chr5:141491320 [GRCh38]
Chr5:140870887 [GRCh37]
Chr5:140851071 [NCBI36]
Chr5:5q31.3
not provided
NM_032097.2(PCDHGB3):c.1708G>A (p.Glu570Lys) single nucleotide variant Malignant melanoma [RCV000066745] Chr5:141372102 [GRCh38]
Chr5:140751669 [GRCh37]
Chr5:140731853 [NCBI36]
Chr5:5q31.3
not provided
NM_014004.2(PCDHGA8):c.2079C>T (p.Leu693=) single nucleotide variant Malignant melanoma [RCV000066746] Chr5:141394892 [GRCh38]
Chr5:140774459 [GRCh37]
Chr5:140754643 [NCBI36]
Chr5:5q31.3
not provided
NM_018928.3(PCDHGC4):c.462G>A (p.Leu154=) single nucleotide variant not provided [RCV000122561] Chr5:141485635 [GRCh38]
Chr5:140865202 [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 5q31.3-32(chr5:141089988-149530678)x3 copy number gain See cases [RCV000139504] Chr5:141089988..149530678 [GRCh38]
Chr5:140469572..148910241 [GRCh37]
Chr5:140449756..148890434 [NCBI36]
Chr5:5q31.3-32
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
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_003735.3(PCDHGA12):c.1448A>G (p.Glu483Gly) single nucleotide variant Inborn genetic diseases [RCV003268387] Chr5:141432207 [GRCh38]
Chr5:140811774 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.262G>A (p.Asp88Asn) single nucleotide variant Inborn genetic diseases [RCV003266765] Chr5:141418121 [GRCh38]
Chr5:140797688 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1598A>G (p.Gln533Arg) single nucleotide variant Inborn genetic diseases [RCV003268656] Chr5:141419457 [GRCh38]
Chr5:140799024 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1436C>A (p.Pro479His) single nucleotide variant Inborn genetic diseases [RCV003267182] Chr5:141432195 [GRCh38]
Chr5:140811762 [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
GRCh37/hg19 5q31.3(chr5:140800486-140807631)x3 copy number gain See cases [RCV000446668] Chr5:140800486..140807631 [GRCh37]
Chr5:5q31.3
uncertain significance
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
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_003736.4(PCDHGB4):c.811G>A (p.Glu271Lys) single nucleotide variant Inborn genetic diseases [RCV003253053] Chr5:141388695 [GRCh38]
Chr5:140768262 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1610G>A (p.Arg537Gln) single nucleotide variant Inborn genetic diseases [RCV003296480] Chr5:141490850 [GRCh38]
Chr5:140870417 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.2084C>T (p.Ala695Val) single nucleotide variant Inborn genetic diseases [RCV003272381] Chr5:141410286 [GRCh38]
Chr5:140789853 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1357G>C (p.Asp453His) single nucleotide variant Inborn genetic diseases [RCV003258593] Chr5:141409559 [GRCh38]
Chr5:140789126 [GRCh37]
Chr5:5q31.3
likely benign
NM_032088.2(PCDHGA8):c.1696G>T (p.Ala566Ser) single nucleotide variant Inborn genetic diseases [RCV003255197] Chr5:141394509 [GRCh38]
Chr5:140774076 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.2236G>T (p.Ala746Ser) single nucleotide variant Inborn genetic diseases [RCV003259790] Chr5:141478352 [GRCh38]
Chr5:140857919 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1585C>G (p.Gln529Glu) single nucleotide variant Inborn genetic diseases [RCV003251459] Chr5:141432344 [GRCh38]
Chr5:140811911 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.2035G>A (p.Asp679Asn) single nucleotide variant Inborn genetic diseases [RCV003300234] Chr5:141400162 [GRCh38]
Chr5:140779729 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1474G>A (p.Ala492Thr) single nucleotide variant Inborn genetic diseases [RCV003255270] Chr5:141384373 [GRCh38]
Chr5:140763940 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1786G>A (p.Ala596Thr) single nucleotide variant Inborn genetic diseases [RCV003257683] Chr5:141372180 [GRCh38]
Chr5:140751747 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1681C>T (p.Pro561Ser) single nucleotide variant Inborn genetic diseases [RCV003248649] Chr5:141399808 [GRCh38]
Chr5:140779375 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.970G>A (p.Ala324Thr) single nucleotide variant Inborn genetic diseases [RCV003291367] Chr5:141477086 [GRCh38]
Chr5:140856653 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1579A>G (p.Thr527Ala) single nucleotide variant Inborn genetic diseases [RCV003288837] Chr5:141419438 [GRCh38]
Chr5:140799005 [GRCh37]
Chr5:5q31.3
likely benign
NM_032088.2(PCDHGA8):c.1840C>T (p.Pro614Ser) single nucleotide variant Inborn genetic diseases [RCV003286797] Chr5:141394653 [GRCh38]
Chr5:140774220 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.955A>G (p.Ile319Val) single nucleotide variant Inborn genetic diseases [RCV003288149] Chr5:141418814 [GRCh38]
Chr5:140798381 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.1904G>A (p.Arg635His) single nucleotide variant Inborn genetic diseases [RCV003265172] Chr5:141400031 [GRCh38]
Chr5:140779598 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1611G>C (p.Gln537His) single nucleotide variant Inborn genetic diseases [RCV003302411] Chr5:141419470 [GRCh38]
Chr5:140799037 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.194T>C (p.Val65Ala) single nucleotide variant Inborn genetic diseases [RCV003287441] Chr5:141421421 [GRCh38]
Chr5:140800988 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1138G>A (p.Gly380Ser) single nucleotide variant Inborn genetic diseases [RCV003285797] Chr5:141393951 [GRCh38]
Chr5:140773518 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.1706G>A (p.Arg569Gln) single nucleotide variant Inborn genetic diseases [RCV003281239] Chr5:141486879 [GRCh38]
Chr5:140866446 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.718C>T (p.Pro240Ser) single nucleotide variant Inborn genetic diseases [RCV003247344] Chr5:141393531 [GRCh38]
Chr5:140773098 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1987G>A (p.Ala663Thr) single nucleotide variant Inborn genetic diseases [RCV003270148] Chr5:141376070 [GRCh38]
Chr5:140755637 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.655G>A (p.Asp219Asn) single nucleotide variant Inborn genetic diseases [RCV003277945] Chr5:141418514 [GRCh38]
Chr5:140798081 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.659C>T (p.Pro220Leu) single nucleotide variant Inborn genetic diseases [RCV003249762] Chr5:141393472 [GRCh38]
Chr5:140773039 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.2134C>T (p.Arg712Cys) single nucleotide variant Inborn genetic diseases [RCV003267015] Chr5:141390018 [GRCh38]
Chr5:140769585 [GRCh37]
Chr5:5q31.3
uncertain significance
GRCh37/hg19 5q31.3(chr5:140676272-140929172)x3 copy number gain See cases [RCV000512526] Chr5:140676272..140929172 [GRCh37]
Chr5:5q31.3
likely benign
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
NM_018913.3(PCDHGA10):c.2188C>T (p.Gln730Ter) single nucleotide variant not provided [RCV000963848] Chr5:141415363 [GRCh38]
Chr5:140794930 [GRCh37]
Chr5:5q31.3
likely benign
NM_018913.3(PCDHGA10):c.651C>T (p.Thr217=) single nucleotide variant not provided [RCV000962128] Chr5:141413826 [GRCh38]
Chr5:140793393 [GRCh37]
Chr5:5q31.3
benign
NM_018925.3(PCDHGB5):c.2092C>T (p.Leu698Phe) single nucleotide variant Inborn genetic diseases [RCV003267426] Chr5:141400219 [GRCh38]
Chr5:140779786 [GRCh37]
Chr5:5q31.3
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_018913.3(PCDHGA10):c.2673C>T (p.His891=) single nucleotide variant not provided [RCV000928114] Chr5:141511035 [GRCh38]
Chr5:140890602 [GRCh37]
Chr5:5q31.3
likely benign
NM_018929.3(PCDHGC5):c.2121C>A (p.Val707=) single nucleotide variant not provided [RCV000903600] Chr5:141491361 [GRCh38]
Chr5:140870928 [GRCh37]
Chr5:5q31.3
benign
NM_018913.3(PCDHGA10):c.2640C>T (p.Ser880=) single nucleotide variant not provided [RCV000914990] Chr5:141511002 [GRCh38]
Chr5:140890569 [GRCh37]
Chr5:5q31.3
likely benign
NM_002588.4(PCDHGC3):c.2178A>G (p.Leu726=) single nucleotide variant not provided [RCV000963442] Chr5:141478294 [GRCh38]
Chr5:140857861 [GRCh37]
Chr5:5q31.3
benign
NM_018927.4(PCDHGB7):c.2116G>A (p.Ala706Thr) single nucleotide variant Inborn genetic diseases [RCV003244116] Chr5:141419975 [GRCh38]
Chr5:140799542 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1006G>C (p.Asp336His) single nucleotide variant Inborn genetic diseases [RCV003247500] Chr5:141371400 [GRCh38]
Chr5:140750967 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.251G>T (p.Arg84Leu) single nucleotide variant not provided [RCV000894333] Chr5:141413426 [GRCh38]
Chr5:140792993 [GRCh37]
Chr5:5q31.3
likely benign
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3 copy number gain not provided [RCV000848228] Chr5:140424333..148985999 [GRCh37]
Chr5:5q31.3-32
uncertain significance
NM_003736.4(PCDHGB4):c.962A>G (p.Asp321Gly) single nucleotide variant Inborn genetic diseases [RCV003246314] Chr5:141388846 [GRCh38]
Chr5:140768413 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1423A>T (p.Thr475Ser) single nucleotide variant Inborn genetic diseases [RCV003291026] Chr5:141394236 [GRCh38]
Chr5:140773803 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.27C>A (p.Asp9Glu) single nucleotide variant Inborn genetic diseases [RCV003273861] Chr5:141421254 [GRCh38]
Chr5:140800821 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.962C>A (p.Ala321Asp) single nucleotide variant Inborn genetic diseases [RCV003272063] Chr5:141403914 [GRCh38]
Chr5:140783481 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.178A>T (p.Ser60Cys) single nucleotide variant Inborn genetic diseases [RCV003240393] Chr5:141476294 [GRCh38]
Chr5:140855861 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1783G>A (p.Asp595Asn) single nucleotide variant Inborn genetic diseases [RCV003248577] Chr5:141404735 [GRCh38]
Chr5:140784302 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1361A>G (p.His454Arg) single nucleotide variant Inborn genetic diseases [RCV003271780] Chr5:141394174 [GRCh38]
Chr5:140773741 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.1082G>T (p.Gly361Val) single nucleotide variant Inborn genetic diseases [RCV003247521] Chr5:141388966 [GRCh38]
Chr5:140768533 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2131G>A (p.Val711Met) single nucleotide variant Inborn genetic diseases [RCV003239662] Chr5:141423358 [GRCh38]
Chr5:140802925 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.1091A>C (p.Glu364Ala) single nucleotide variant Inborn genetic diseases [RCV003246193] Chr5:141486264 [GRCh38]
Chr5:140865831 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1696C>T (p.Pro566Ser) single nucleotide variant Inborn genetic diseases [RCV003274734] Chr5:141422923 [GRCh38]
Chr5:140802490 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1369G>T (p.Val457Phe) single nucleotide variant Inborn genetic diseases [RCV003272506] Chr5:141389253 [GRCh38]
Chr5:140768820 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.509G>A (p.Ser170Asn) single nucleotide variant Inborn genetic diseases [RCV003249258] Chr5:141421736 [GRCh38]
Chr5:140801303 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.890C>T (p.Pro297Leu) single nucleotide variant Inborn genetic diseases [RCV003291368] Chr5:141486063 [GRCh38]
Chr5:140865630 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1022C>T (p.Pro341Leu) single nucleotide variant Inborn genetic diseases [RCV003291471] Chr5:141399149 [GRCh38]
Chr5:140778716 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1312A>T (p.Ile438Phe) single nucleotide variant Inborn genetic diseases [RCV003275237] Chr5:141375395 [GRCh38]
Chr5:140754962 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.120G>T (p.Glu40Asp) single nucleotide variant Inborn genetic diseases [RCV003292269] Chr5:141370514 [GRCh38]
Chr5:140750081 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1000A>G (p.Thr334Ala) single nucleotide variant Inborn genetic diseases [RCV003241653] Chr5:141414175 [GRCh38]
Chr5:140793742 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1199A>C (p.Asn400Thr) single nucleotide variant Inborn genetic diseases [RCV003292385] Chr5:141371593 [GRCh38]
Chr5:140751160 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.714C>G (p.Asn238Lys) single nucleotide variant Inborn genetic diseases [RCV003276009] Chr5:141431473 [GRCh38]
Chr5:140811040 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1258A>C (p.Ile420Leu) single nucleotide variant Inborn genetic diseases [RCV003252583] Chr5:141375341 [GRCh38]
Chr5:140754908 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.191T>C (p.Leu64Pro) single nucleotide variant Inborn genetic diseases [RCV003242204] Chr5:141485364 [GRCh38]
Chr5:140864931 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.199C>A (p.Arg67=) single nucleotide variant not provided [RCV000888699] Chr5:141408401 [GRCh38]
Chr5:140787968 [GRCh37]
Chr5:5q31.3
benign
NM_002588.4(PCDHGC3):c.2646A>G (p.Gly882=) single nucleotide variant not provided [RCV000897354] Chr5:141511014 [GRCh38]
Chr5:140890581 [GRCh37]
Chr5:5q31.3
benign
NM_018913.3(PCDHGA10):c.1834C>T (p.Leu612=) single nucleotide variant not provided [RCV000975082] Chr5:141415009 [GRCh38]
Chr5:140794576 [GRCh37]
Chr5:5q31.3
benign
NM_018929.3(PCDHGC5):c.1965A>G (p.Ser655=) single nucleotide variant not provided [RCV000975083] Chr5:141491205 [GRCh38]
Chr5:140870772 [GRCh37]
Chr5:5q31.3
benign
NM_018913.3(PCDHGA10):c.1932A>G (p.Gln644=) single nucleotide variant not provided [RCV000956313] Chr5:141415107 [GRCh38]
Chr5:140794674 [GRCh37]
Chr5:5q31.3
likely benign
NM_018929.3(PCDHGC5):c.1173G>A (p.Pro391=) single nucleotide variant not provided [RCV000956314] Chr5:141490413 [GRCh38]
Chr5:140869980 [GRCh37]
Chr5:5q31.3
benign
NM_018929.3(PCDHGC5):c.1407G>A (p.Pro469=) single nucleotide variant not provided [RCV000956315] Chr5:141490647 [GRCh38]
Chr5:140870214 [GRCh37]
Chr5:5q31.3
benign
NM_018929.3(PCDHGC5):c.2013T>C (p.Pro671=) single nucleotide variant not provided [RCV000956316] Chr5:141491253 [GRCh38]
Chr5:140870820 [GRCh37]
Chr5:5q31.3
benign
NM_018913.3(PCDHGA10):c.32C>G (p.Ser11Ter) single nucleotide variant not provided [RCV000912014] Chr5:141413207 [GRCh38]
Chr5:140792774 [GRCh37]
Chr5:5q31.3
likely benign
NM_018928.3(PCDHGC4):c.683_762del (p.Leu228fs) deletion Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002465045] Chr5:141485851..141485930 [GRCh38]
Chr5:140865418..140865497 [GRCh37]
Chr5:5q31.3
likely pathogenic
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_018928.3(PCDHGC4):c.1463C>T (p.Ala488Val) single nucleotide variant Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248462] Chr5:141486636 [GRCh38]
Chr5:140866203 [GRCh37]
Chr5:5q31.3
pathogenic
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_018928.3(PCDHGC4):c.324del (p.Phe108fs) deletion Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248463] Chr5:141485495 [GRCh38]
Chr5:140865062 [GRCh37]
Chr5:5q31.3
pathogenic
NM_018928.3(PCDHGC4):c.118C>T (p.Gln40Ter) single nucleotide variant Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248461] Chr5:141485291 [GRCh38]
Chr5:140864858 [GRCh37]
Chr5:5q31.3
pathogenic
NM_018928.3(PCDHGC4):c.2139dup (p.Lys714Ter) duplication Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002259562] Chr5:141487311..141487312 [GRCh38]
Chr5:140866878..140866879 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_018914.3(PCDHGA11):c.1046C>A (p.Thr349Asn) single nucleotide variant Inborn genetic diseases [RCV003295056] Chr5:141422273 [GRCh38]
Chr5:140801840 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.2041C>G (p.Pro681Ala) single nucleotide variant Inborn genetic diseases [RCV003276469] Chr5:141432800 [GRCh38]
Chr5:140812367 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.1449C>G (p.Asp483Glu) single nucleotide variant Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248460] Chr5:141486622 [GRCh38]
Chr5:140866189 [GRCh37]
Chr5:5q31.3
pathogenic
NM_018928.3(PCDHGC4):c.1243C>T (p.Arg415Ter) single nucleotide variant Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248464] Chr5:141486416 [GRCh38]
Chr5:140865983 [GRCh37]
Chr5:5q31.3
pathogenic
NM_003736.4(PCDHGB4):c.2266C>A (p.His756Asn) single nucleotide variant Inborn genetic diseases [RCV003260976] Chr5:141390150 [GRCh38]
Chr5:140769717 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1306A>G (p.Thr436Ala) single nucleotide variant Inborn genetic diseases [RCV003262761] Chr5:141384205 [GRCh38]
Chr5:140763772 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1043A>G (p.Gln348Arg) single nucleotide variant Inborn genetic diseases [RCV003286132] Chr5:141388927 [GRCh38]
Chr5:140768494 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.815G>A (p.Gly272Asp) single nucleotide variant Inborn genetic diseases [RCV003264821] Chr5:141371209 [GRCh38]
Chr5:140750776 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1801A>G (p.Asn601Asp) single nucleotide variant Inborn genetic diseases [RCV002837430] Chr5:141372195 [GRCh38]
Chr5:140751762 [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_018913.3(PCDHGA10):c.2020C>G (p.Gln674Glu) single nucleotide variant Inborn genetic diseases [RCV002902832] Chr5:141415195 [GRCh38]
Chr5:140794762 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.1441G>A (p.Gly481Ser) single nucleotide variant Inborn genetic diseases [RCV002902842] Chr5:141399568 [GRCh38]
Chr5:140779135 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.661C>T (p.Arg221Cys) single nucleotide variant Inborn genetic diseases [RCV003264834] Chr5:141403613 [GRCh38]
Chr5:140783180 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.121C>A (p.Leu41Met) single nucleotide variant Inborn genetic diseases [RCV002771913] Chr5:141417980 [GRCh38]
Chr5:140797547 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.827A>G (p.Asn276Ser) single nucleotide variant Inborn genetic diseases [RCV002901821] Chr5:141476943 [GRCh38]
Chr5:140856510 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1466T>G (p.Ile489Ser) single nucleotide variant Inborn genetic diseases [RCV003287196] Chr5:141389350 [GRCh38]
Chr5:140768917 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1933C>T (p.Arg645Cys) single nucleotide variant Inborn genetic diseases [RCV002816841] Chr5:141389817 [GRCh38]
Chr5:140769384 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2237T>C (p.Val746Ala) single nucleotide variant Inborn genetic diseases [RCV002880006] Chr5:141385136 [GRCh38]
Chr5:140764703 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1901T>C (p.Val634Ala) single nucleotide variant Inborn genetic diseases [RCV002859975] Chr5:141478017 [GRCh38]
Chr5:140857584 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.442C>T (p.Pro148Ser) single nucleotide variant Inborn genetic diseases [RCV002841447] Chr5:141393255 [GRCh38]
Chr5:140772822 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.118C>A (p.Gln40Lys) single nucleotide variant Inborn genetic diseases [RCV002753807] Chr5:141485291 [GRCh38]
Chr5:140864858 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.2027T>A (p.Val676Glu) single nucleotide variant Inborn genetic diseases [RCV002839687] Chr5:141400154 [GRCh38]
Chr5:140779721 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.557C>G (p.Pro186Arg) single nucleotide variant Inborn genetic diseases [RCV002816968] Chr5:141418416 [GRCh38]
Chr5:140797983 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2232C>A (p.Asp744Glu) single nucleotide variant Inborn genetic diseases [RCV002859629] Chr5:141385131 [GRCh38]
Chr5:140764698 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.2266T>A (p.Ser756Thr) single nucleotide variant Inborn genetic diseases [RCV002729753] Chr5:141487439 [GRCh38]
Chr5:140867006 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1775G>T (p.Arg592Leu) single nucleotide variant Inborn genetic diseases [RCV002682879] Chr5:141477891 [GRCh38]
Chr5:140857458 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1286C>A (p.Thr429Lys) single nucleotide variant Inborn genetic diseases [RCV002728805] Chr5:141375369 [GRCh38]
Chr5:140754936 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.778G>A (p.Gly260Ser) single nucleotide variant Inborn genetic diseases [RCV002685215] Chr5:141476894 [GRCh38]
Chr5:140856461 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1496G>A (p.Arg499Gln) single nucleotide variant Inborn genetic diseases [RCV002753291] Chr5:141371890 [GRCh38]
Chr5:140751457 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.56T>C (p.Leu19Pro) single nucleotide variant Inborn genetic diseases [RCV002749595] Chr5:141374139 [GRCh38]
Chr5:140753706 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1903G>T (p.Asp635Tyr) single nucleotide variant Inborn genetic diseases [RCV002901981] Chr5:141423130 [GRCh38]
Chr5:140802697 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.718C>T (p.Pro240Ser) single nucleotide variant Inborn genetic diseases [RCV002968459] Chr5:141383617 [GRCh38]
Chr5:140763184 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1604A>G (p.Gln535Arg) single nucleotide variant Inborn genetic diseases [RCV002945187] Chr5:141414779 [GRCh38]
Chr5:140794346 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2110A>G (p.Ile704Val) single nucleotide variant Inborn genetic diseases [RCV002969637] Chr5:141423337 [GRCh38]
Chr5:140802904 [GRCh37]
Chr5:5q31.3
likely benign
NM_003735.3(PCDHGA12):c.1781T>A (p.Val594Glu) single nucleotide variant Inborn genetic diseases [RCV002774150] Chr5:141432540 [GRCh38]
Chr5:140812107 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.2035C>G (p.Leu679Val) single nucleotide variant Inborn genetic diseases [RCV002859056] Chr5:141415210 [GRCh38]
Chr5:140794777 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1052C>G (p.Ser351Cys) single nucleotide variant Inborn genetic diseases [RCV002752010] Chr5:141393865 [GRCh38]
Chr5:140773432 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1232C>T (p.Thr411Ile) single nucleotide variant Inborn genetic diseases [RCV002989990] Chr5:141399359 [GRCh38]
Chr5:140778926 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1635C>A (p.Asn545Lys) single nucleotide variant Inborn genetic diseases [RCV002990382] Chr5:141375718 [GRCh38]
Chr5:140755285 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.361G>A (p.Val121Met) single nucleotide variant Inborn genetic diseases [RCV002997300] Chr5:141383260 [GRCh38]
Chr5:140762827 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2353A>C (p.Ser785Arg) single nucleotide variant Inborn genetic diseases [RCV002969884] Chr5:141423580 [GRCh38]
Chr5:140803147 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1466C>A (p.Ala489Asp) single nucleotide variant Inborn genetic diseases [RCV002778436] Chr5:141399593 [GRCh38]
Chr5:140779160 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.2293A>C (p.Lys765Gln) single nucleotide variant Inborn genetic diseases [RCV002794110] Chr5:141433052 [GRCh38]
Chr5:140812619 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.494G>A (p.Gly165Glu) single nucleotide variant Inborn genetic diseases [RCV002753651] Chr5:141476610 [GRCh38]
Chr5:140856177 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1960G>A (p.Ala654Thr) single nucleotide variant Inborn genetic diseases [RCV002968319] Chr5:141389844 [GRCh38]
Chr5:140769411 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.989G>A (p.Arg330Gln) single nucleotide variant Inborn genetic diseases [RCV002778929] Chr5:141418848 [GRCh38]
Chr5:140798415 [GRCh37]
Chr5:5q31.3
likely benign
NM_018928.3(PCDHGC4):c.1405C>T (p.Arg469Cys) single nucleotide variant Inborn genetic diseases [RCV003012605] Chr5:141486578 [GRCh38]
Chr5:140866145 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.2206C>T (p.Pro736Ser) single nucleotide variant Inborn genetic diseases [RCV002778744] Chr5:141376289 [GRCh38]
Chr5:140755856 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.617C>A (p.Thr206Asn) single nucleotide variant Inborn genetic diseases [RCV002774407] Chr5:141403569 [GRCh38]
Chr5:140783136 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.74G>C (p.Gly25Ala) single nucleotide variant Inborn genetic diseases [RCV002688535] Chr5:141485247 [GRCh38]
Chr5:140864814 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.601G>C (p.Asp201His) single nucleotide variant Inborn genetic diseases [RCV002974299] Chr5:141393414 [GRCh38]
Chr5:140772981 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.74G>T (p.Arg25Leu) single nucleotide variant Inborn genetic diseases [RCV002778656] Chr5:141421301 [GRCh38]
Chr5:140800868 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.56T>A (p.Phe19Tyr) single nucleotide variant Inborn genetic diseases [RCV002865473] Chr5:141485229 [GRCh38]
Chr5:140864796 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.1289C>T (p.Ala430Val) single nucleotide variant Inborn genetic diseases [RCV002772906] Chr5:141486462 [GRCh38]
Chr5:140866029 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.458G>A (p.Arg153His) single nucleotide variant Inborn genetic diseases [RCV002749439] Chr5:141476574 [GRCh38]
Chr5:140856141 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1883C>T (p.Thr628Met) single nucleotide variant Inborn genetic diseases [RCV002688016] Chr5:141432642 [GRCh38]
Chr5:140812209 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.410G>A (p.Ser137Asn) single nucleotide variant Inborn genetic diseases [RCV002774613] Chr5:141403362 [GRCh38]
Chr5:140782929 [GRCh37]
Chr5:5q31.3
likely benign
NM_018919.3(PCDHGA6):c.49C>A (p.Leu17Ile) single nucleotide variant Inborn genetic diseases [RCV002837462] Chr5:141374132 [GRCh38]
Chr5:140753699 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1193T>C (p.Val398Ala) single nucleotide variant Inborn genetic diseases [RCV002684568] Chr5:141375276 [GRCh38]
Chr5:140754843 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.391C>T (p.Pro131Ser) single nucleotide variant Inborn genetic diseases [RCV002880018] Chr5:141418250 [GRCh38]
Chr5:140797817 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.95G>A (p.Arg32His) single nucleotide variant Inborn genetic diseases [RCV002754361] Chr5:141489335 [GRCh38]
Chr5:140868902 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.967C>T (p.Arg323Cys) single nucleotide variant Inborn genetic diseases [RCV002902754] Chr5:141490207 [GRCh38]
Chr5:140869774 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1531C>T (p.Pro511Ser) single nucleotide variant Inborn genetic diseases [RCV002841183] Chr5:141490771 [GRCh38]
Chr5:140870338 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2336C>T (p.Thr779Met) single nucleotide variant Inborn genetic diseases [RCV002753867] Chr5:141423563 [GRCh38]
Chr5:140803130 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.425T>A (p.Leu142Gln) single nucleotide variant Inborn genetic diseases [RCV002905933] Chr5:141413600 [GRCh38]
Chr5:140793167 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.536C>T (p.Ser179Phe) single nucleotide variant Inborn genetic diseases [RCV002688484] Chr5:141370930 [GRCh38]
Chr5:140750497 [GRCh37]
Chr5:5q31.3
likely benign
NM_018928.3(PCDHGC4):c.2375G>T (p.Ser792Ile) single nucleotide variant Inborn genetic diseases [RCV002907058] Chr5:141487548 [GRCh38]
Chr5:140867115 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.832G>C (p.Val278Leu) single nucleotide variant Inborn genetic diseases [RCV002751836] Chr5:141422059 [GRCh38]
Chr5:140801626 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.2765G>A (p.Arg922His) single nucleotide variant Inborn genetic diseases [RCV002973702] Chr5:141511049 [GRCh38]
Chr5:140890616 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1961C>A (p.Ala654Asp) single nucleotide variant Inborn genetic diseases [RCV002968320] Chr5:141389845 [GRCh38]
Chr5:140769412 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1841C>G (p.Pro614Arg) single nucleotide variant Inborn genetic diseases [RCV002969886] Chr5:141394654 [GRCh38]
Chr5:140774221 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1519G>A (p.Val507Met) single nucleotide variant Inborn genetic diseases [RCV002969887] Chr5:141371913 [GRCh38]
Chr5:140751480 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.376A>G (p.Ile126Val) single nucleotide variant Inborn genetic diseases [RCV002840789] Chr5:141431135 [GRCh38]
Chr5:140810702 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2138C>A (p.Ala713Glu) single nucleotide variant Inborn genetic diseases [RCV002684389] Chr5:141385037 [GRCh38]
Chr5:140764604 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1539C>G (p.Phe513Leu) single nucleotide variant Inborn genetic diseases [RCV002682145] Chr5:141389423 [GRCh38]
Chr5:140768990 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1475C>T (p.Ala492Val) single nucleotide variant Inborn genetic diseases [RCV002836816] Chr5:141384374 [GRCh38]
Chr5:140763941 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1903C>T (p.Arg635Cys) single nucleotide variant Inborn genetic diseases [RCV002836903] Chr5:141400030 [GRCh38]
Chr5:140779597 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.506G>A (p.Ser169Asn) single nucleotide variant Inborn genetic diseases [RCV002684047] Chr5:141383405 [GRCh38]
Chr5:140762972 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1937G>C (p.Gly646Ala) single nucleotide variant Inborn genetic diseases [RCV002753605] Chr5:141400064 [GRCh38]
Chr5:140779631 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2213C>T (p.Ser738Leu) single nucleotide variant Inborn genetic diseases [RCV002865793] Chr5:141385112 [GRCh38]
Chr5:140764679 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.506G>T (p.Ser169Ile) single nucleotide variant Inborn genetic diseases [RCV002732936] Chr5:141383405 [GRCh38]
Chr5:140762972 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.2092G>A (p.Val698Met) single nucleotide variant Inborn genetic diseases [RCV002859331] Chr5:141487265 [GRCh38]
Chr5:140866832 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1341C>G (p.Asn447Lys) single nucleotide variant Inborn genetic diseases [RCV002729146] Chr5:141422568 [GRCh38]
Chr5:140802135 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1354T>C (p.Phe452Leu) single nucleotide variant Inborn genetic diseases [RCV002837006] Chr5:141404306 [GRCh38]
Chr5:140783873 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.967C>G (p.Arg323Gly) single nucleotide variant Inborn genetic diseases [RCV003013072] Chr5:141490207 [GRCh38]
Chr5:140869774 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.389C>T (p.Ala130Val) single nucleotide variant Inborn genetic diseases [RCV002778258] Chr5:141485562 [GRCh38]
Chr5:140865129 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1045A>G (p.Ile349Val) single nucleotide variant Inborn genetic diseases [RCV002779149] Chr5:141393858 [GRCh38]
Chr5:140773425 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.684C>G (p.Ile228Met) single nucleotide variant Inborn genetic diseases [RCV002901752] Chr5:141489924 [GRCh38]
Chr5:140869491 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1014G>C (p.Leu338Phe) single nucleotide variant Inborn genetic diseases [RCV002837202] Chr5:141414189 [GRCh38]
Chr5:140793756 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1114C>T (p.Arg372Trp) single nucleotide variant Inborn genetic diseases [RCV002946234] Chr5:141409316 [GRCh38]
Chr5:140788883 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1603C>A (p.Arg535Ser) single nucleotide variant Inborn genetic diseases [RCV002777742] Chr5:141409805 [GRCh38]
Chr5:140789372 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2377G>A (p.Val793Ile) single nucleotide variant Inborn genetic diseases [RCV002688549] Chr5:141405329 [GRCh38]
Chr5:140784896 [GRCh37]
Chr5:5q31.3
likely benign
NM_018919.3(PCDHGA6):c.2217C>G (p.His739Gln) single nucleotide variant Inborn genetic diseases [RCV002973703] Chr5:141376300 [GRCh38]
Chr5:140755867 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.283C>T (p.Leu95Phe) single nucleotide variant Inborn genetic diseases [RCV002734274] Chr5:141403235 [GRCh38]
Chr5:140782802 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1972G>A (p.Val658Ile) single nucleotide variant Inborn genetic diseases [RCV002841943] Chr5:141384871 [GRCh38]
Chr5:140764438 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2326G>A (p.Val776Ile) single nucleotide variant Inborn genetic diseases [RCV002981184] Chr5:141385225 [GRCh38]
Chr5:140764792 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1894C>T (p.Arg632Cys) single nucleotide variant Inborn genetic diseases [RCV002661377] Chr5:141478010 [GRCh38]
Chr5:140857577 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.1254A>T (p.Lys418Asn) single nucleotide variant Inborn genetic diseases [RCV002760039] Chr5:141486427 [GRCh38]
Chr5:140865994 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1837G>A (p.Glu613Lys) single nucleotide variant Inborn genetic diseases [RCV002849338] Chr5:141384736 [GRCh38]
Chr5:140764303 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1843G>A (p.Ala615Thr) single nucleotide variant Inborn genetic diseases [RCV002844427] Chr5:141491083 [GRCh38]
Chr5:140870650 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.2206C>G (p.Pro736Ala) single nucleotide variant Inborn genetic diseases [RCV002707906] Chr5:141395019 [GRCh38]
Chr5:140774586 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1345G>T (p.Ala449Ser) single nucleotide variant Inborn genetic diseases [RCV002868362] Chr5:141409547 [GRCh38]
Chr5:140789114 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.383A>G (p.Asp128Gly) single nucleotide variant Inborn genetic diseases [RCV002981104] Chr5:141393196 [GRCh38]
Chr5:140772763 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.947C>T (p.Thr316Met) single nucleotide variant Inborn genetic diseases [RCV002884930] Chr5:141418806 [GRCh38]
Chr5:140798373 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1121G>A (p.Arg374Gln) single nucleotide variant Inborn genetic diseases [RCV002761827] Chr5:141404073 [GRCh38]
Chr5:140783640 [GRCh37]
Chr5:5q31.3
likely benign
NM_002588.4(PCDHGC3):c.1679G>A (p.Arg560His) single nucleotide variant Inborn genetic diseases [RCV002758563] Chr5:141477795 [GRCh38]
Chr5:140857362 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1668C>G (p.Asn556Lys) single nucleotide variant Inborn genetic diseases [RCV002707392] Chr5:141419527 [GRCh38]
Chr5:140799094 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.277G>A (p.Glu93Lys) single nucleotide variant Inborn genetic diseases [RCV003001506] Chr5:141374360 [GRCh38]
Chr5:140753927 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.688G>A (p.Val230Ile) single nucleotide variant Inborn genetic diseases [RCV002707437] Chr5:141374771 [GRCh38]
Chr5:140754338 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.710A>G (p.Asn237Ser) single nucleotide variant Inborn genetic diseases [RCV002981460] Chr5:141421937 [GRCh38]
Chr5:140801504 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.28C>T (p.Arg10Cys) single nucleotide variant Inborn genetic diseases [RCV002758796] Chr5:141421255 [GRCh38]
Chr5:140800822 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1436C>T (p.Pro479Leu) single nucleotide variant Inborn genetic diseases [RCV002762265] Chr5:141432195 [GRCh38]
Chr5:140811762 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.302G>T (p.Arg101Leu) single nucleotide variant Inborn genetic diseases [RCV002762282] Chr5:141383201 [GRCh38]
Chr5:140762768 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.266G>T (p.Arg89Leu) single nucleotide variant Inborn genetic diseases [RCV002703729] Chr5:141370660 [GRCh38]
Chr5:140750227 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.2173G>A (p.Asp725Asn) single nucleotide variant Inborn genetic diseases [RCV002911095] Chr5:141420032 [GRCh38]
Chr5:140799599 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.464T>C (p.Met155Thr) single nucleotide variant Inborn genetic diseases [RCV002758189] Chr5:141374547 [GRCh38]
Chr5:140754114 [GRCh37]
Chr5:5q31.3
likely benign
NM_002588.4(PCDHGC3):c.296G>T (p.Gly99Val) single nucleotide variant Inborn genetic diseases [RCV002910445] Chr5:141476412 [GRCh38]
Chr5:140855979 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.710A>T (p.Asp237Val) single nucleotide variant Inborn genetic diseases [RCV002704179] Chr5:141393523 [GRCh38]
Chr5:140773090 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.275G>T (p.Arg92Leu) single nucleotide variant Inborn genetic diseases [RCV002950208] Chr5:141370669 [GRCh38]
Chr5:140750236 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.435C>G (p.Ser145Arg) single nucleotide variant Inborn genetic diseases [RCV002977040] Chr5:141476551 [GRCh38]
Chr5:140856118 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1315G>A (p.Ala439Thr) single nucleotide variant Inborn genetic diseases [RCV002738005] Chr5:141394128 [GRCh38]
Chr5:140773695 [GRCh37]
Chr5:5q31.3
likely benign
NM_018913.3(PCDHGA10):c.1522T>A (p.Tyr508Asn) single nucleotide variant Inborn genetic diseases [RCV002661263] Chr5:141414697 [GRCh38]
Chr5:140794264 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1237A>G (p.Asn413Asp) single nucleotide variant Inborn genetic diseases [RCV002738383] Chr5:141389121 [GRCh38]
Chr5:140768688 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1452T>A (p.Asn484Lys) single nucleotide variant Inborn genetic diseases [RCV003000666] Chr5:141371846 [GRCh38]
Chr5:140751413 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1132G>A (p.Glu378Lys) single nucleotide variant Inborn genetic diseases [RCV002951942] Chr5:141431891 [GRCh38]
Chr5:140811458 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.824C>A (p.Ala275Asp) single nucleotide variant Inborn genetic diseases [RCV002844391] Chr5:141388708 [GRCh38]
Chr5:140768275 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.353G>A (p.Arg118His) single nucleotide variant Inborn genetic diseases [RCV002659935] Chr5:141489593 [GRCh38]
Chr5:140869160 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.665G>A (p.Arg222His) single nucleotide variant Inborn genetic diseases [RCV002910710] Chr5:141393478 [GRCh38]
Chr5:140773045 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.70T>C (p.Trp24Arg) single nucleotide variant Inborn genetic diseases [RCV002759323] Chr5:141382969 [GRCh38]
Chr5:140762536 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2351G>A (p.Gly784Asp) single nucleotide variant Inborn genetic diseases [RCV002868150] Chr5:141491591 [GRCh38]
Chr5:140871158 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1679C>T (p.Pro560Leu) single nucleotide variant Inborn genetic diseases [RCV002884366] Chr5:141372073 [GRCh38]
Chr5:140751640 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2392C>A (p.Pro798Thr) single nucleotide variant Inborn genetic diseases [RCV002797409] Chr5:141491632 [GRCh38]
Chr5:140871199 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.2288C>T (p.Pro763Leu) single nucleotide variant Inborn genetic diseases [RCV002737635] Chr5:141420147 [GRCh38]
Chr5:140799714 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.730C>T (p.His244Tyr) single nucleotide variant Inborn genetic diseases [RCV002691515] Chr5:141393543 [GRCh38]
Chr5:140773110 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1790C>T (p.Ala597Val) single nucleotide variant Inborn genetic diseases [RCV002758030] Chr5:141414965 [GRCh38]
Chr5:140794532 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.676G>A (p.Ala226Thr) single nucleotide variant Inborn genetic diseases [RCV002868179] Chr5:141408878 [GRCh38]
Chr5:140788445 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1355A>G (p.Gln452Arg) single nucleotide variant Inborn genetic diseases [RCV002739882] Chr5:141389239 [GRCh38]
Chr5:140768806 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.244G>C (p.Gly82Arg) single nucleotide variant Inborn genetic diseases [RCV002757992] Chr5:141393057 [GRCh38]
Chr5:140772624 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.218G>A (p.Arg73His) single nucleotide variant Inborn genetic diseases [RCV002693330] Chr5:141489458 [GRCh38]
Chr5:140869025 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.1915C>A (p.Arg639Ser) single nucleotide variant Inborn genetic diseases [RCV002784135] Chr5:141389799 [GRCh38]
Chr5:140769366 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1205A>G (p.Tyr402Cys) single nucleotide variant Inborn genetic diseases [RCV002951415] Chr5:141419064 [GRCh38]
Chr5:140798631 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1554C>G (p.Cys518Trp) single nucleotide variant Inborn genetic diseases [RCV002926211] Chr5:141404506 [GRCh38]
Chr5:140784073 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.767A>G (p.Tyr256Cys) single nucleotide variant Inborn genetic diseases [RCV002661580] Chr5:141388651 [GRCh38]
Chr5:140768218 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1732G>A (p.Val578Met) single nucleotide variant Inborn genetic diseases [RCV002977519] Chr5:141419591 [GRCh38]
Chr5:140799158 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.664C>A (p.Arg222Ser) single nucleotide variant Inborn genetic diseases [RCV002952271] Chr5:141431423 [GRCh38]
Chr5:140810990 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1528C>T (p.Arg510Trp) single nucleotide variant Inborn genetic diseases [RCV002980903] Chr5:141371922 [GRCh38]
Chr5:140751489 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.619G>A (p.Val207Ile) single nucleotide variant Inborn genetic diseases [RCV002758156] Chr5:141383518 [GRCh38]
Chr5:140763085 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.1684G>T (p.Ala562Ser) single nucleotide variant Inborn genetic diseases [RCV002926284] Chr5:141399811 [GRCh38]
Chr5:140779378 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.2257T>G (p.Tyr753Asp) single nucleotide variant Inborn genetic diseases [RCV002888595] Chr5:141395070 [GRCh38]
Chr5:140774637 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1922G>A (p.Ser641Asn) single nucleotide variant Inborn genetic diseases [RCV002660507] Chr5:141432681 [GRCh38]
Chr5:140812248 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.421C>T (p.Arg141Cys) single nucleotide variant Inborn genetic diseases [RCV002739398] Chr5:141489661 [GRCh38]
Chr5:140869228 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1499T>A (p.Ile500Asn) single nucleotide variant Inborn genetic diseases [RCV002762009] Chr5:141414674 [GRCh38]
Chr5:140794241 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.371T>C (p.Ile124Thr) single nucleotide variant Inborn genetic diseases [RCV002704493] Chr5:141383270 [GRCh38]
Chr5:140762837 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1012C>G (p.Leu338Val) single nucleotide variant Inborn genetic diseases [RCV002848553] Chr5:141431771 [GRCh38]
Chr5:140811338 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1841C>T (p.Pro614Leu) single nucleotide variant Inborn genetic diseases [RCV002910780] Chr5:141394654 [GRCh38]
Chr5:140774221 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.253G>A (p.Val85Ile) single nucleotide variant Inborn genetic diseases [RCV002694432] Chr5:141383152 [GRCh38]
Chr5:140762719 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.2242T>A (p.Leu748Met) single nucleotide variant Inborn genetic diseases [RCV002924048] Chr5:141420101 [GRCh38]
Chr5:140799668 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1787A>G (p.His596Arg) single nucleotide variant Inborn genetic diseases [RCV003001227] Chr5:141399914 [GRCh38]
Chr5:140779481 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1535G>T (p.Gly512Val) single nucleotide variant Inborn genetic diseases [RCV002870008] Chr5:141404487 [GRCh38]
Chr5:140784054 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.2032C>A (p.Arg678Ser) single nucleotide variant Inborn genetic diseases [RCV002870009] Chr5:141372426 [GRCh38]
Chr5:140751993 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1070T>C (p.Val357Ala) single nucleotide variant Inborn genetic diseases [RCV002887039] Chr5:141399197 [GRCh38]
Chr5:140778764 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1652A>G (p.Asp551Gly) single nucleotide variant Inborn genetic diseases [RCV002844335] Chr5:141389536 [GRCh38]
Chr5:140769103 [GRCh37]
Chr5:5q31.3
likely benign
NM_003735.3(PCDHGA12):c.1607A>T (p.Asp536Val) single nucleotide variant Inborn genetic diseases [RCV002845512] Chr5:141432366 [GRCh38]
Chr5:140811933 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.2269G>A (p.Val757Ile) single nucleotide variant Inborn genetic diseases [RCV002998612] Chr5:141376352 [GRCh38]
Chr5:140755919 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1547A>G (p.Tyr516Cys) single nucleotide variant Inborn genetic diseases [RCV002692980] Chr5:141422774 [GRCh38]
Chr5:140802341 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1310A>T (p.His437Leu) single nucleotide variant Inborn genetic diseases [RCV002797668] Chr5:141399437 [GRCh38]
Chr5:140779004 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1928T>A (p.Val643Glu) single nucleotide variant Inborn genetic diseases [RCV002704066] Chr5:141384827 [GRCh38]
Chr5:140764394 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.941G>A (p.Arg314His) single nucleotide variant Inborn genetic diseases [RCV002978781] Chr5:141490181 [GRCh38]
Chr5:140869748 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2281A>T (p.Ile761Phe) single nucleotide variant Inborn genetic diseases [RCV002661994] Chr5:141423508 [GRCh38]
Chr5:140803075 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1477G>A (p.Ala493Thr) single nucleotide variant Inborn genetic diseases [RCV002739921] Chr5:141419336 [GRCh38]
Chr5:140798903 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.2291G>T (p.Arg764Leu) single nucleotide variant Inborn genetic diseases [RCV002707424] Chr5:141376374 [GRCh38]
Chr5:140755941 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1781T>C (p.Val594Ala) single nucleotide variant Inborn genetic diseases [RCV002888400] Chr5:141409983 [GRCh38]
Chr5:140789550 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1612G>C (p.Ala538Pro) single nucleotide variant Inborn genetic diseases [RCV002784983] Chr5:141414787 [GRCh38]
Chr5:140794354 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.719C>T (p.Pro240Leu) single nucleotide variant Inborn genetic diseases [RCV002978918] Chr5:141388603 [GRCh38]
Chr5:140768170 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1854C>G (p.Ser618Arg) single nucleotide variant Inborn genetic diseases [RCV002886927] Chr5:141372248 [GRCh38]
Chr5:140751815 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.509A>T (p.Tyr170Phe) single nucleotide variant Inborn genetic diseases [RCV002701807] Chr5:141408711 [GRCh38]
Chr5:140788278 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1960C>T (p.Leu654Phe) single nucleotide variant Inborn genetic diseases [RCV002712558] Chr5:141394773 [GRCh38]
Chr5:140774340 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2117C>T (p.Thr706Ile) single nucleotide variant Inborn genetic diseases [RCV002986559] Chr5:141405069 [GRCh38]
Chr5:140784636 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1634G>A (p.Arg545His) single nucleotide variant Inborn genetic diseases [RCV002803198] Chr5:141399761 [GRCh38]
Chr5:140779328 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.2231G>A (p.Ser744Asn) single nucleotide variant Inborn genetic diseases [RCV002744264] Chr5:141420090 [GRCh38]
Chr5:140799657 [GRCh37]
Chr5:5q31.3
likely benign
NM_018921.3(PCDHGA9):c.2129C>T (p.Thr710Met) single nucleotide variant Inborn genetic diseases [RCV002644870] Chr5:141405081 [GRCh38]
Chr5:140784648 [GRCh37]
Chr5:5q31.3
likely benign
NM_018914.3(PCDHGA11):c.277C>T (p.Arg93Trp) single nucleotide variant Inborn genetic diseases [RCV002830714] Chr5:141421504 [GRCh38]
Chr5:140801071 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.598C>G (p.Arg200Gly) single nucleotide variant Inborn genetic diseases [RCV002767610] Chr5:141476714 [GRCh38]
Chr5:140856281 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2304C>G (p.Asp768Glu) single nucleotide variant Inborn genetic diseases [RCV002668145] Chr5:141491544 [GRCh38]
Chr5:140871111 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.392C>G (p.Pro131Arg) single nucleotide variant Inborn genetic diseases [RCV002709237] Chr5:141398519 [GRCh38]
Chr5:140778086 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.18G>C (p.Arg6Ser) single nucleotide variant Inborn genetic diseases [RCV002830955] Chr5:141374101 [GRCh38]
Chr5:140753668 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1910C>T (p.Ala637Val) single nucleotide variant Inborn genetic diseases [RCV002696401] Chr5:141404862 [GRCh38]
Chr5:140784429 [GRCh37]
Chr5:5q31.3
likely benign
NM_018926.3(PCDHGB6):c.2369C>T (p.Pro790Leu) single nucleotide variant Inborn genetic diseases [RCV002853948] Chr5:141410571 [GRCh38]
Chr5:140790138 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1856G>T (p.Gly619Val) single nucleotide variant Inborn genetic diseases [RCV002768460] Chr5:141415031 [GRCh38]
Chr5:140794598 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1802A>C (p.Asn601Thr) single nucleotide variant Inborn genetic diseases [RCV002768560] Chr5:141432561 [GRCh38]
Chr5:140812128 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1450C>T (p.Pro484Ser) single nucleotide variant Inborn genetic diseases [RCV002955393] Chr5:141477566 [GRCh38]
Chr5:140857133 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1714G>A (p.Glu572Lys) single nucleotide variant Inborn genetic diseases [RCV002742108] Chr5:141490954 [GRCh38]
Chr5:140870521 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.862T>A (p.Phe288Ile) single nucleotide variant Inborn genetic diseases [RCV002955588] Chr5:141398989 [GRCh38]
Chr5:140778556 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.649G>A (p.Gly217Arg) single nucleotide variant Inborn genetic diseases [RCV002787534] Chr5:141485822 [GRCh38]
Chr5:140865389 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.1129C>T (p.Pro377Ser) single nucleotide variant Inborn genetic diseases [RCV002875241] Chr5:141486302 [GRCh38]
Chr5:140865869 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.2348A>T (p.Glu783Val) single nucleotide variant Inborn genetic diseases [RCV002931322] Chr5:141376431 [GRCh38]
Chr5:140755998 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.238C>G (p.Arg80Gly) single nucleotide variant Inborn genetic diseases [RCV003003534] Chr5:141403190 [GRCh38]
Chr5:140782757 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.83C>T (p.Thr28Ile) single nucleotide variant Inborn genetic diseases [RCV002802373] Chr5:141408285 [GRCh38]
Chr5:140787852 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1129C>T (p.Arg377Trp) single nucleotide variant Inborn genetic diseases [RCV002743829] Chr5:141490369 [GRCh38]
Chr5:140869936 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.326T>C (p.Val109Ala) single nucleotide variant Inborn genetic diseases [RCV002802692] Chr5:141388210 [GRCh38]
Chr5:140767777 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1733T>G (p.Leu578Arg) single nucleotide variant Inborn genetic diseases [RCV002764476] Chr5:141422960 [GRCh38]
Chr5:140802527 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.605G>T (p.Arg202Leu) single nucleotide variant Inborn genetic diseases [RCV002789895] Chr5:141431364 [GRCh38]
Chr5:140810931 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.991G>T (p.Val331Leu) single nucleotide variant Inborn genetic diseases [RCV002956010] Chr5:141388875 [GRCh38]
Chr5:140768442 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1505A>C (p.Tyr502Ser) single nucleotide variant Inborn genetic diseases [RCV002915848] Chr5:141389389 [GRCh38]
Chr5:140768956 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1601C>G (p.Ala534Gly) single nucleotide variant Inborn genetic diseases [RCV002665205] Chr5:141409803 [GRCh38]
Chr5:140789370 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.840A>T (p.Glu280Asp) single nucleotide variant Inborn genetic diseases [RCV002850057] Chr5:141414015 [GRCh38]
Chr5:140793582 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.2367G>T (p.Lys789Asn) single nucleotide variant Inborn genetic diseases [RCV002764626] Chr5:141487540 [GRCh38]
Chr5:140867107 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.277G>A (p.Glu93Lys) single nucleotide variant Inborn genetic diseases [RCV002929498] Chr5:141398404 [GRCh38]
Chr5:140777971 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1511C>A (p.Pro504His) single nucleotide variant Inborn genetic diseases [RCV003004249] Chr5:141414686 [GRCh38]
Chr5:140794253 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.2375A>G (p.His792Arg) single nucleotide variant Inborn genetic diseases [RCV002788827] Chr5:141410577 [GRCh38]
Chr5:140790144 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1372T>G (p.Ser458Ala) single nucleotide variant Inborn genetic diseases [RCV002764657] Chr5:141384271 [GRCh38]
Chr5:140763838 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1978C>G (p.Leu660Val) single nucleotide variant Inborn genetic diseases [RCV002956637] Chr5:141376061 [GRCh38]
Chr5:140755628 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1660G>T (p.Asp554Tyr) single nucleotide variant Inborn genetic diseases [RCV002709785] Chr5:141372054 [GRCh38]
Chr5:140751621 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.619G>A (p.Glu207Lys) single nucleotide variant Inborn genetic diseases [RCV002827363] Chr5:141413794 [GRCh38]
Chr5:140793361 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1321C>A (p.Gln441Lys) single nucleotide variant Inborn genetic diseases [RCV002874487] Chr5:141404273 [GRCh38]
Chr5:140783840 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1400G>A (p.Arg467Lys) single nucleotide variant Inborn genetic diseases [RCV002827395] Chr5:141404352 [GRCh38]
Chr5:140783919 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1046C>A (p.Ala349Asp) single nucleotide variant Inborn genetic diseases [RCV002640789] Chr5:141477162 [GRCh38]
Chr5:140856729 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.988A>G (p.Asn330Asp) single nucleotide variant Inborn genetic diseases [RCV002713285] Chr5:141477104 [GRCh38]
Chr5:140856671 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.995T>C (p.Leu332Pro) single nucleotide variant Inborn genetic diseases [RCV002763057] Chr5:141414170 [GRCh38]
Chr5:140793737 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1661A>G (p.Asn554Ser) single nucleotide variant Inborn genetic diseases [RCV002826147] Chr5:141389545 [GRCh38]
Chr5:140769112 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1482C>G (p.Phe494Leu) single nucleotide variant Inborn genetic diseases [RCV002915644] Chr5:141477598 [GRCh38]
Chr5:140857165 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.349A>T (p.Arg117Trp) single nucleotide variant Inborn genetic diseases [RCV002956204] Chr5:141413524 [GRCh38]
Chr5:140793091 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.311T>C (p.Leu104Pro) single nucleotide variant Inborn genetic diseases [RCV002830488] Chr5:141370705 [GRCh38]
Chr5:140750272 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1036C>T (p.Pro346Ser) single nucleotide variant Inborn genetic diseases [RCV002787729] Chr5:141422263 [GRCh38]
Chr5:140801830 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1042C>G (p.Leu348Val) single nucleotide variant Inborn genetic diseases [RCV002987160] Chr5:141399169 [GRCh38]
Chr5:140778736 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.152A>C (p.Asp51Ala) single nucleotide variant Inborn genetic diseases [RCV003006720] Chr5:141430911 [GRCh38]
Chr5:140810478 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.193C>T (p.Arg65Cys) single nucleotide variant Inborn genetic diseases [RCV002712887] Chr5:141383092 [GRCh38]
Chr5:140762659 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.2180T>G (p.Phe727Cys) single nucleotide variant Inborn genetic diseases [RCV002802274] Chr5:141372574 [GRCh38]
Chr5:140752141 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1119C>A (p.Asp373Glu) single nucleotide variant Inborn genetic diseases [RCV002713040] Chr5:141393932 [GRCh38]
Chr5:140773499 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1616C>T (p.Ser539Leu) single nucleotide variant Inborn genetic diseases [RCV003004655] Chr5:141419475 [GRCh38]
Chr5:140799042 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1130G>A (p.Arg377Gln) single nucleotide variant Inborn genetic diseases [RCV002698663] Chr5:141490370 [GRCh38]
Chr5:140869937 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.619G>T (p.Asp207Tyr) single nucleotide variant Inborn genetic diseases [RCV002854115] Chr5:141485792 [GRCh38]
Chr5:140865359 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.432A>C (p.Glu144Asp) single nucleotide variant Inborn genetic diseases [RCV002931442] Chr5:141403384 [GRCh38]
Chr5:140782951 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.164A>G (p.Asp55Gly) single nucleotide variant Inborn genetic diseases [RCV002767967] Chr5:141413339 [GRCh38]
Chr5:140792906 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1714G>A (p.Asp572Asn) single nucleotide variant Inborn genetic diseases [RCV002767561] Chr5:141399841 [GRCh38]
Chr5:140779408 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.244G>A (p.Gly82Arg) single nucleotide variant Inborn genetic diseases [RCV002699148] Chr5:141408446 [GRCh38]
Chr5:140788013 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.280G>A (p.Glu94Lys) single nucleotide variant Inborn genetic diseases [RCV002712506] Chr5:141388164 [GRCh38]
Chr5:140767731 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2180C>T (p.Ala727Val) single nucleotide variant Inborn genetic diseases [RCV002929413] Chr5:141405132 [GRCh38]
Chr5:140784699 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1892C>T (p.Thr631Ile) single nucleotide variant Inborn genetic diseases [RCV002986525] Chr5:141372286 [GRCh38]
Chr5:140751853 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1519G>A (p.Val507Met) single nucleotide variant Inborn genetic diseases [RCV002787689] Chr5:141409721 [GRCh38]
Chr5:140789288 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.809A>T (p.Asp270Val) single nucleotide variant Inborn genetic diseases [RCV002954664] Chr5:141393622 [GRCh38]
Chr5:140773189 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1033C>G (p.Pro345Ala) single nucleotide variant Inborn genetic diseases [RCV002804827] Chr5:141371427 [GRCh38]
Chr5:140750994 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.2213A>G (p.Asn738Ser) single nucleotide variant Inborn genetic diseases [RCV002954813] Chr5:141400340 [GRCh38]
Chr5:140779907 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.2057C>A (p.Thr686Asn) single nucleotide variant Inborn genetic diseases [RCV002666229] Chr5:141432816 [GRCh38]
Chr5:140812383 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.292C>A (p.Gln98Lys) single nucleotide variant Inborn genetic diseases [RCV002826116] Chr5:141374375 [GRCh38]
Chr5:140753942 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.179C>A (p.Ala60Glu) single nucleotide variant Inborn genetic diseases [RCV002803256] Chr5:141374262 [GRCh38]
Chr5:140753829 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.451C>G (p.Arg151Gly) single nucleotide variant Inborn genetic diseases [RCV002986016] Chr5:141374534 [GRCh38]
Chr5:140754101 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1580A>G (p.Asp527Gly) single nucleotide variant Inborn genetic diseases [RCV002956604] Chr5:141394393 [GRCh38]
Chr5:140773960 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.31G>C (p.Gly11Arg) single nucleotide variant Inborn genetic diseases [RCV002788058] Chr5:141392844 [GRCh38]
Chr5:140772411 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.661C>A (p.Pro221Thr) single nucleotide variant Inborn genetic diseases [RCV002916781] Chr5:141418520 [GRCh38]
Chr5:140798087 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2080G>T (p.Val694Phe) single nucleotide variant Inborn genetic diseases [RCV002744993] Chr5:141405032 [GRCh38]
Chr5:140784599 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1085C>T (p.Pro362Leu) single nucleotide variant Inborn genetic diseases [RCV002789818] Chr5:141393898 [GRCh38]
Chr5:140773465 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.2389G>A (p.Gly797Arg) single nucleotide variant Inborn genetic diseases [RCV002699836] Chr5:141487562 [GRCh38]
Chr5:140867129 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2084T>C (p.Ile695Thr) single nucleotide variant Inborn genetic diseases [RCV003006603] Chr5:141491324 [GRCh38]
Chr5:140870891 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.2024T>G (p.Leu675Trp) single nucleotide variant Inborn genetic diseases [RCV002764780] Chr5:141394837 [GRCh38]
Chr5:140774404 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1340A>G (p.Asp447Gly) single nucleotide variant Inborn genetic diseases [RCV002763058] Chr5:141371734 [GRCh38]
Chr5:140751301 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1875G>C (p.Glu625Asp) single nucleotide variant Inborn genetic diseases [RCV002831275] Chr5:141372269 [GRCh38]
Chr5:140751836 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.993T>G (p.Cys331Trp) single nucleotide variant Inborn genetic diseases [RCV002714205] Chr5:141409195 [GRCh38]
Chr5:140788762 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.268A>C (p.Ile90Leu) single nucleotide variant Inborn genetic diseases [RCV002896933] Chr5:141485441 [GRCh38]
Chr5:140865008 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.2024C>G (p.Pro675Arg) single nucleotide variant Inborn genetic diseases [RCV002964782] Chr5:141400151 [GRCh38]
Chr5:140779718 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.2378C>T (p.Ser793Leu) single nucleotide variant Inborn genetic diseases [RCV002835950] Chr5:141400505 [GRCh38]
Chr5:140780072 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.574C>T (p.Pro192Ser) single nucleotide variant Inborn genetic diseases [RCV002718947] Chr5:141408776 [GRCh38]
Chr5:140788343 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1585A>T (p.Met529Leu) single nucleotide variant Inborn genetic diseases [RCV002836093] Chr5:141490825 [GRCh38]
Chr5:140870392 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1703G>A (p.Gly568Asp) single nucleotide variant Inborn genetic diseases [RCV002940110] Chr5:141419562 [GRCh38]
Chr5:140799129 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1744G>T (p.Ala582Ser) single nucleotide variant Inborn genetic diseases [RCV002835790] Chr5:141375827 [GRCh38]
Chr5:140755394 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1204T>A (p.Tyr402Asn) single nucleotide variant Inborn genetic diseases [RCV002813367] Chr5:141419063 [GRCh38]
Chr5:140798630 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.107C>T (p.Ser36Leu) single nucleotide variant Inborn genetic diseases [RCV002836064] Chr5:141408309 [GRCh38]
Chr5:140787876 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.719C>G (p.Pro240Arg) single nucleotide variant Inborn genetic diseases [RCV002672661] Chr5:141393532 [GRCh38]
Chr5:140773099 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1804G>C (p.Ala602Pro) single nucleotide variant Inborn genetic diseases [RCV002941407] Chr5:141384703 [GRCh38]
Chr5:140764270 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1647C>A (p.Ser549Arg) single nucleotide variant Inborn genetic diseases [RCV002940937] Chr5:141375730 [GRCh38]
Chr5:140755297 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.2335T>C (p.Cys779Arg) single nucleotide variant Inborn genetic diseases [RCV002748210] Chr5:141390219 [GRCh38]
Chr5:140769786 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1472T>G (p.Leu491Arg) single nucleotide variant Inborn genetic diseases [RCV002965815] Chr5:141375555 [GRCh38]
Chr5:140755122 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.410T>C (p.Ile137Thr) single nucleotide variant Inborn genetic diseases [RCV002988123] Chr5:141370804 [GRCh38]
Chr5:140750371 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1291C>A (p.Pro431Thr) single nucleotide variant Inborn genetic diseases [RCV002702486] Chr5:141375374 [GRCh38]
Chr5:140754941 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.2261C>T (p.Ser754Phe) single nucleotide variant Inborn genetic diseases [RCV002961814] Chr5:141395074 [GRCh38]
Chr5:140774641 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.442C>A (p.Pro148Thr) single nucleotide variant Inborn genetic diseases [RCV002934556] Chr5:141388326 [GRCh38]
Chr5:140767893 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1261C>T (p.Pro421Ser) single nucleotide variant Inborn genetic diseases [RCV002896889] Chr5:141477377 [GRCh38]
Chr5:140856944 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1723G>A (p.Gly575Ser) single nucleotide variant Inborn genetic diseases [RCV002920238] Chr5:141414898 [GRCh38]
Chr5:140794465 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1153G>A (p.Val385Met) single nucleotide variant Inborn genetic diseases [RCV002920461] Chr5:141490393 [GRCh38]
Chr5:140869960 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.890C>A (p.Pro297His) single nucleotide variant Inborn genetic diseases [RCV002769865] Chr5:141490130 [GRCh38]
Chr5:140869697 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.895G>C (p.Gly299Arg) single nucleotide variant Inborn genetic diseases [RCV002879186] Chr5:141374978 [GRCh38]
Chr5:140754545 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.286T>G (p.Cys96Gly) single nucleotide variant Inborn genetic diseases [RCV002988173] Chr5:141408488 [GRCh38]
Chr5:140788055 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.37T>A (p.Leu13Ile) single nucleotide variant Inborn genetic diseases [RCV002808524] Chr5:141402989 [GRCh38]
Chr5:140782556 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1439G>T (p.Gly480Val) single nucleotide variant Inborn genetic diseases [RCV002649246] Chr5:141389323 [GRCh38]
Chr5:140768890 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.373G>A (p.Asp125Asn) single nucleotide variant Inborn genetic diseases [RCV002935201] Chr5:141383272 [GRCh38]
Chr5:140762839 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2212T>G (p.Ser738Ala) single nucleotide variant Inborn genetic diseases [RCV002989208] Chr5:141385111 [GRCh38]
Chr5:140764678 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.2341G>A (p.Asp781Asn) single nucleotide variant Inborn genetic diseases [RCV002959517] Chr5:141390225 [GRCh38]
Chr5:140769792 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1990C>G (p.Leu664Val) single nucleotide variant Inborn genetic diseases [RCV002898060] Chr5:141415165 [GRCh38]
Chr5:140794732 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1555G>T (p.Asp519Tyr) single nucleotide variant Inborn genetic diseases [RCV002987917] Chr5:141389439 [GRCh38]
Chr5:140769006 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.286T>C (p.Cys96Arg) single nucleotide variant Inborn genetic diseases [RCV002669198] Chr5:141408488 [GRCh38]
Chr5:140788055 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.844C>T (p.Arg282Trp) single nucleotide variant Inborn genetic diseases [RCV002987983] Chr5:141393657 [GRCh38]
Chr5:140773224 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.1070A>G (p.Asp357Gly) single nucleotide variant Inborn genetic diseases [RCV002920340] Chr5:141388954 [GRCh38]
Chr5:140768521 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1436C>G (p.Pro479Arg) single nucleotide variant Inborn genetic diseases [RCV002940204] Chr5:141371830 [GRCh38]
Chr5:140751397 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2213C>T (p.Thr738Met) single nucleotide variant Inborn genetic diseases [RCV002936076] Chr5:141423440 [GRCh38]
Chr5:140803007 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1678C>A (p.Pro560Thr) single nucleotide variant Inborn genetic diseases [RCV002935091] Chr5:141394491 [GRCh38]
Chr5:140774058 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.707A>G (p.Asn236Ser) single nucleotide variant Inborn genetic diseases [RCV002673562] Chr5:141489947 [GRCh38]
Chr5:140869514 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.445C>T (p.Pro149Ser) single nucleotide variant Inborn genetic diseases [RCV002935684] Chr5:141421672 [GRCh38]
Chr5:140801239 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1606A>G (p.Thr536Ala) single nucleotide variant Inborn genetic diseases [RCV002964042] Chr5:141477722 [GRCh38]
Chr5:140857289 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1661A>G (p.Asn554Ser) single nucleotide variant Inborn genetic diseases [RCV002831843] Chr5:141477777 [GRCh38]
Chr5:140857344 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.577G>A (p.Val193Ile) single nucleotide variant Inborn genetic diseases [RCV002935255] Chr5:141413752 [GRCh38]
Chr5:140793319 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1513G>T (p.Val505Leu) single nucleotide variant Inborn genetic diseases [RCV002836208] Chr5:141371907 [GRCh38]
Chr5:140751474 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1942G>A (p.Asp648Asn) single nucleotide variant Inborn genetic diseases [RCV002648768] Chr5:141432701 [GRCh38]
Chr5:140812268 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.2273C>T (p.Thr758Met) single nucleotide variant Inborn genetic diseases [RCV002898059] Chr5:141400400 [GRCh38]
Chr5:140779967 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1258A>G (p.Ile420Val) single nucleotide variant Inborn genetic diseases [RCV002719076] Chr5:141384157 [GRCh38]
Chr5:140763724 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1534G>C (p.Gly512Arg) single nucleotide variant Inborn genetic diseases [RCV002941437] Chr5:141419393 [GRCh38]
Chr5:140798960 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2246T>C (p.Phe749Ser) single nucleotide variant Inborn genetic diseases [RCV002672930] Chr5:141385145 [GRCh38]
Chr5:140764712 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2191G>T (p.Gly731Cys) single nucleotide variant Inborn genetic diseases [RCV002940784] Chr5:141423418 [GRCh38]
Chr5:140802985 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.968G>A (p.Arg323His) single nucleotide variant Inborn genetic diseases [RCV003008772] Chr5:141490208 [GRCh38]
Chr5:140869775 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1888C>G (p.Arg630Gly) single nucleotide variant Inborn genetic diseases [RCV002855312] Chr5:141432647 [GRCh38]
Chr5:140812214 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1572G>T (p.Gln524His) single nucleotide variant Inborn genetic diseases [RCV003008792] Chr5:141384471 [GRCh38]
Chr5:140764038 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.2186C>A (p.Pro729His) single nucleotide variant Inborn genetic diseases [RCV002855482] Chr5:141410388 [GRCh38]
Chr5:140789955 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1061G>A (p.Ser354Asn) single nucleotide variant Inborn genetic diseases [RCV002896724] Chr5:141393874 [GRCh38]
Chr5:140773441 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.853G>A (p.Ala285Thr) single nucleotide variant Inborn genetic diseases [RCV002703193] Chr5:141409055 [GRCh38]
Chr5:140788622 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.427G>A (p.Val143Ile) single nucleotide variant Inborn genetic diseases [RCV003010866] Chr5:141421654 [GRCh38]
Chr5:140801221 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1182A>C (p.Leu394Phe) single nucleotide variant Inborn genetic diseases [RCV002836038] Chr5:141393995 [GRCh38]
Chr5:140773562 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.2246C>T (p.Ser749Phe) single nucleotide variant Inborn genetic diseases [RCV002939225] Chr5:141390130 [GRCh38]
Chr5:140769697 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1895T>A (p.Leu632Gln) single nucleotide variant Inborn genetic diseases [RCV002808094] Chr5:141384794 [GRCh38]
Chr5:140764361 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.703A>G (p.Thr235Ala) single nucleotide variant Inborn genetic diseases [RCV002941197] Chr5:141393516 [GRCh38]
Chr5:140773083 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.356T>C (p.Val119Ala) single nucleotide variant Inborn genetic diseases [RCV002680402] Chr5:141431115 [GRCh38]
Chr5:140810682 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1358C>T (p.Pro453Leu) single nucleotide variant Inborn genetic diseases [RCV002724914] Chr5:141375441 [GRCh38]
Chr5:140755008 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.32G>C (p.Ser11Thr) single nucleotide variant Inborn genetic diseases [RCV002944392] Chr5:141421259 [GRCh38]
Chr5:140800826 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.691A>C (p.Thr231Pro) single nucleotide variant Inborn genetic diseases [RCV002944523] Chr5:141393504 [GRCh38]
Chr5:140773071 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.366G>C (p.Glu122Asp) single nucleotide variant Inborn genetic diseases [RCV002944525] Chr5:141485539 [GRCh38]
Chr5:140865106 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.2051C>T (p.Ser684Phe) single nucleotide variant Inborn genetic diseases [RCV002680184] Chr5:141419910 [GRCh38]
Chr5:140799477 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1733A>G (p.His578Arg) single nucleotide variant Inborn genetic diseases [RCV002722350] Chr5:141389617 [GRCh38]
Chr5:140769184 [GRCh37]
Chr5:5q31.3
likely benign
NM_018919.3(PCDHGA6):c.2149C>A (p.Gln717Lys) single nucleotide variant Inborn genetic diseases [RCV002680594] Chr5:141376232 [GRCh38]
Chr5:140755799 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1510G>A (p.Gly504Arg) single nucleotide variant Inborn genetic diseases [RCV002678665] Chr5:141477626 [GRCh38]
Chr5:140857193 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1411A>G (p.Ile471Val) single nucleotide variant Inborn genetic diseases [RCV002652357] Chr5:141409613 [GRCh38]
Chr5:140789180 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.761A>T (p.Asp254Val) single nucleotide variant Inborn genetic diseases [RCV002652451] Chr5:141418620 [GRCh38]
Chr5:140798187 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1702G>A (p.Asp568Asn) single nucleotide variant Inborn genetic diseases [RCV002679502] Chr5:141389586 [GRCh38]
Chr5:140769153 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1657G>C (p.Val553Leu) single nucleotide variant Inborn genetic diseases [RCV002656012] Chr5:141422884 [GRCh38]
Chr5:140802451 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1425C>A (p.Ser475Arg) single nucleotide variant Inborn genetic diseases [RCV002677358] Chr5:141409627 [GRCh38]
Chr5:140789194 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.1189C>A (p.Leu397Ile) single nucleotide variant Inborn genetic diseases [RCV002678388] Chr5:141486362 [GRCh38]
Chr5:140865929 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1286C>A (p.Thr429Asn) single nucleotide variant Inborn genetic diseases [RCV002814225] Chr5:141384185 [GRCh38]
Chr5:140763752 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.286C>G (p.Leu96Val) single nucleotide variant Inborn genetic diseases [RCV003279262] Chr5:141421513 [GRCh38]
Chr5:140801080 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.412C>G (p.Leu138Val) single nucleotide variant Inborn genetic diseases [RCV003256689] Chr5:141485585 [GRCh38]
Chr5:140865152 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1153G>A (p.Glu385Lys) single nucleotide variant Inborn genetic diseases [RCV003299396] Chr5:141399280 [GRCh38]
Chr5:140778847 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2045T>C (p.Leu682Pro) single nucleotide variant Inborn genetic diseases [RCV003257183] Chr5:141423272 [GRCh38]
Chr5:140802839 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.1528G>A (p.Gly510Arg) single nucleotide variant Inborn genetic diseases [RCV003280474] Chr5:141389412 [GRCh38]
Chr5:140768979 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.31G>A (p.Gly11Arg) single nucleotide variant Inborn genetic diseases [RCV003219910] Chr5:141489271 [GRCh38]
Chr5:140868838 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.511A>G (p.Lys171Glu) single nucleotide variant Inborn genetic diseases [RCV003199889] Chr5:141408713 [GRCh38]
Chr5:140788280 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1577G>T (p.Arg526Leu) single nucleotide variant Inborn genetic diseases [RCV003220144] Chr5:141371971 [GRCh38]
Chr5:140751538 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.2297A>T (p.Asn766Ile) single nucleotide variant Inborn genetic diseases [RCV003209835] Chr5:141420156 [GRCh38]
Chr5:140799723 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1121C>T (p.Ser374Phe) single nucleotide variant Inborn genetic diseases [RCV003220402] Chr5:141389005 [GRCh38]
Chr5:140768572 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2443C>G (p.Leu815Val) single nucleotide variant Inborn genetic diseases [RCV003220538] Chr5:141491683 [GRCh38]
Chr5:140871250 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1754G>A (p.Gly585Asp) single nucleotide variant Inborn genetic diseases [RCV003201085] Chr5:141375837 [GRCh38]
Chr5:140755404 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1036G>A (p.Glu346Lys) single nucleotide variant Inborn genetic diseases [RCV003203956] Chr5:141431795 [GRCh38]
Chr5:140811362 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.32C>T (p.Ala11Val) single nucleotide variant Inborn genetic diseases [RCV003210669] Chr5:141370426 [GRCh38]
Chr5:140749993 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.850A>T (p.Ile284Phe) single nucleotide variant Inborn genetic diseases [RCV003203742] Chr5:141371244 [GRCh38]
Chr5:140750811 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.244G>C (p.Gly82Arg) single nucleotide variant Inborn genetic diseases [RCV003180560] Chr5:141403196 [GRCh38]
Chr5:140782763 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.69C>A (p.His23Gln) single nucleotide variant Inborn genetic diseases [RCV003189227] Chr5:141485242 [GRCh38]
Chr5:140864809 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1062C>G (p.Ser354Arg) single nucleotide variant Inborn genetic diseases [RCV003205045] Chr5:141431821 [GRCh38]
Chr5:140811388 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.868C>G (p.Gln290Glu) single nucleotide variant Inborn genetic diseases [RCV003173954] Chr5:141371262 [GRCh38]
Chr5:140750829 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.845A>G (p.Tyr282Cys) single nucleotide variant Inborn genetic diseases [RCV003192064] Chr5:141398972 [GRCh38]
Chr5:140778539 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1298G>C (p.Ser433Thr) single nucleotide variant Inborn genetic diseases [RCV003206952] Chr5:141414473 [GRCh38]
Chr5:140794040 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.682C>T (p.Leu228Phe) single nucleotide variant Inborn genetic diseases [RCV003212821] Chr5:141485855 [GRCh38]
Chr5:140865422 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.460G>C (p.Ala154Pro) single nucleotide variant Inborn genetic diseases [RCV003191248] Chr5:141421687 [GRCh38]
Chr5:140801254 [GRCh37]
Chr5:5q31.3
likely benign
NM_018919.3(PCDHGA6):c.2354A>G (p.Tyr785Cys) single nucleotide variant Inborn genetic diseases [RCV003179619] Chr5:141376437 [GRCh38]
Chr5:140756004 [GRCh37]
Chr5:5q31.3
likely benign
NM_018914.3(PCDHGA11):c.499T>G (p.Ser167Ala) single nucleotide variant Inborn genetic diseases [RCV003212994] Chr5:141421726 [GRCh38]
Chr5:140801293 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.401A>T (p.Gln134Leu) single nucleotide variant Inborn genetic diseases [RCV003287148] Chr5:141403353 [GRCh38]
Chr5:140782920 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.829A>G (p.Ile277Val) single nucleotide variant Inborn genetic diseases [RCV003210513] Chr5:141409031 [GRCh38]
Chr5:140788598 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.2311G>A (p.Val771Ile) single nucleotide variant Inborn genetic diseases [RCV003173298] Chr5:141420170 [GRCh38]
Chr5:140799737 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1507A>G (p.Met503Val) single nucleotide variant Inborn genetic diseases [RCV003195862] Chr5:141399634 [GRCh38]
Chr5:140779201 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.1400T>C (p.Ile467Thr) single nucleotide variant Inborn genetic diseases [RCV003183153] Chr5:141399527 [GRCh38]
Chr5:140779094 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.182T>G (p.Val61Gly) single nucleotide variant Inborn genetic diseases [RCV003173761] Chr5:141418041 [GRCh38]
Chr5:140797608 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1523A>C (p.Asn508Thr) single nucleotide variant Inborn genetic diseases [RCV003175322] Chr5:141432282 [GRCh38]
Chr5:140811849 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2030C>G (p.Ser677Cys) single nucleotide variant Inborn genetic diseases [RCV003212739] Chr5:141491270 [GRCh38]
Chr5:140870837 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.373G>A (p.Asp125Asn) single nucleotide variant Inborn genetic diseases [RCV003196439] Chr5:141393186 [GRCh38]
Chr5:140772753 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.885T>G (p.Asn295Lys) single nucleotide variant Inborn genetic diseases [RCV003196631] Chr5:141374968 [GRCh38]
Chr5:140754535 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.100C>T (p.Arg34Cys) single nucleotide variant Inborn genetic diseases [RCV003190958] Chr5:141417959 [GRCh38]
Chr5:140797526 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1552A>G (p.Ile518Val) single nucleotide variant Inborn genetic diseases [RCV003201369] Chr5:141477668 [GRCh38]
Chr5:140857235 [GRCh37]
Chr5:5q31.3
likely benign
NM_003735.3(PCDHGA12):c.698T>C (p.Leu233Pro) single nucleotide variant Inborn genetic diseases [RCV003200279] Chr5:141431457 [GRCh38]
Chr5:140811024 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1706C>T (p.Thr569Ile) single nucleotide variant Inborn genetic diseases [RCV003282314] Chr5:141375789 [GRCh38]
Chr5:140755356 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.334G>A (p.Gly112Ser) single nucleotide variant Inborn genetic diseases [RCV003199316] Chr5:141485507 [GRCh38]
Chr5:140865074 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.163G>A (p.Asp55Asn) single nucleotide variant Inborn genetic diseases [RCV003212014] Chr5:141485336 [GRCh38]
Chr5:140864903 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1983T>A (p.His661Gln) single nucleotide variant Inborn genetic diseases [RCV003212157] Chr5:141410185 [GRCh38]
Chr5:140789752 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1584C>G (p.Phe528Leu) single nucleotide variant Inborn genetic diseases [RCV003302410] Chr5:141419443 [GRCh38]
Chr5:140799010 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1135A>G (p.Asn379Asp) single nucleotide variant Inborn genetic diseases [RCV003178142] Chr5:141371529 [GRCh38]
Chr5:140751096 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1939G>A (p.Val647Ile) single nucleotide variant Inborn genetic diseases [RCV003197142] Chr5:141423166 [GRCh38]
Chr5:140802733 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1924C>T (p.Leu642Phe) single nucleotide variant Inborn genetic diseases [RCV003208118] Chr5:141432683 [GRCh38]
Chr5:140812250 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1634A>G (p.His545Arg) single nucleotide variant Inborn genetic diseases [RCV003197636] Chr5:141490874 [GRCh38]
Chr5:140870441 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1892C>T (p.Ala631Val) single nucleotide variant Inborn genetic diseases [RCV003260945] Chr5:141394705 [GRCh38]
Chr5:140774272 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1104T>G (p.His368Gln) single nucleotide variant Inborn genetic diseases [RCV003260946] Chr5:141399231 [GRCh38]
Chr5:140778798 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.164A>G (p.Asp55Gly) single nucleotide variant Inborn genetic diseases [RCV003180224] Chr5:141392977 [GRCh38]
Chr5:140772544 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1731G>A (p.Met577Ile) single nucleotide variant Inborn genetic diseases [RCV003185475] Chr5:141409933 [GRCh38]
Chr5:140789500 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1966G>A (p.Ala656Thr) single nucleotide variant Inborn genetic diseases [RCV003175720] Chr5:141376049 [GRCh38]
Chr5:140755616 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1481C>A (p.Ser494Tyr) single nucleotide variant Inborn genetic diseases [RCV003198748] Chr5:141414656 [GRCh38]
Chr5:140794223 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1267T>G (p.Leu423Val) single nucleotide variant Inborn genetic diseases [RCV003179728] Chr5:141422494 [GRCh38]
Chr5:140802061 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.560A>T (p.Asp187Val) single nucleotide variant Inborn genetic diseases [RCV003183256] Chr5:141408762 [GRCh38]
Chr5:140788329 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.28C>G (p.Arg10Gly) single nucleotide variant Inborn genetic diseases [RCV003185687] Chr5:141421255 [GRCh38]
Chr5:140800822 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.664C>T (p.Pro222Ser) single nucleotide variant Inborn genetic diseases [RCV003179987] Chr5:141476780 [GRCh38]
Chr5:140856347 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.2252A>G (p.Gln751Arg) single nucleotide variant Inborn genetic diseases [RCV003215114] Chr5:141376335 [GRCh38]
Chr5:140755902 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.2125G>A (p.Val709Met) single nucleotide variant Inborn genetic diseases [RCV003195812] Chr5:141487298 [GRCh38]
Chr5:140866865 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.2192T>G (p.Val731Gly) single nucleotide variant Inborn genetic diseases [RCV003208569] Chr5:141372586 [GRCh38]
Chr5:140752153 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.2303T>G (p.Leu768Arg) single nucleotide variant Inborn genetic diseases [RCV003186009] Chr5:141376386 [GRCh38]
Chr5:140755953 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.736G>A (p.Val246Met) single nucleotide variant Inborn genetic diseases [RCV003215238] Chr5:141418595 [GRCh38]
Chr5:140798162 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1406C>G (p.Pro469Arg) single nucleotide variant Inborn genetic diseases [RCV003204042] Chr5:141490646 [GRCh38]
Chr5:140870213 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2401A>G (p.Ile801Val) single nucleotide variant Inborn genetic diseases [RCV003196337] Chr5:141405353 [GRCh38]
Chr5:140784920 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2378T>G (p.Leu793Trp) single nucleotide variant Inborn genetic diseases [RCV003186280] Chr5:141423605 [GRCh38]
Chr5:140803172 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2078A>G (p.Tyr693Cys) single nucleotide variant Inborn genetic diseases [RCV003180985] Chr5:141423305 [GRCh38]
Chr5:140802872 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1711G>C (p.Gly571Arg) single nucleotide variant Inborn genetic diseases [RCV003215819] Chr5:141375794 [GRCh38]
Chr5:140755361 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.136G>A (p.Gly46Arg) single nucleotide variant Inborn genetic diseases [RCV003220958] Chr5:141383035 [GRCh38]
Chr5:140762602 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.8G>A (p.Ser3Asn) single nucleotide variant Inborn genetic diseases [RCV003186619] Chr5:141398135 [GRCh38]
Chr5:140777702 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.407A>G (p.Glu136Gly) single nucleotide variant Inborn genetic diseases [RCV003200331] Chr5:141374490 [GRCh38]
Chr5:140754057 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2300C>A (p.Thr767Lys) single nucleotide variant Inborn genetic diseases [RCV003193587] Chr5:141491540 [GRCh38]
Chr5:140871107 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.2032G>C (p.Asp678His) single nucleotide variant Inborn genetic diseases [RCV003186657] Chr5:141389916 [GRCh38]
Chr5:140769483 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2170G>T (p.Asp724Tyr) single nucleotide variant Inborn genetic diseases [RCV003201204] Chr5:141491410 [GRCh38]
Chr5:140870977 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.526C>T (p.His176Tyr) single nucleotide variant Inborn genetic diseases [RCV003191079] Chr5:141393339 [GRCh38]
Chr5:140772906 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1540G>A (p.Ala514Thr) single nucleotide variant Inborn genetic diseases [RCV003175011] Chr5:141389424 [GRCh38]
Chr5:140768991 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.532T>C (p.Phe178Leu) single nucleotide variant Inborn genetic diseases [RCV003173125] Chr5:141408734 [GRCh38]
Chr5:140788301 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2423C>T (p.Pro808Leu) single nucleotide variant Inborn genetic diseases [RCV003191999] Chr5:141405375 [GRCh38]
Chr5:140784942 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.2266G>A (p.Glu756Lys) single nucleotide variant Inborn genetic diseases [RCV003173286] Chr5:141395079 [GRCh38]
Chr5:140774646 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1113C>G (p.Asp371Glu) single nucleotide variant Inborn genetic diseases [RCV003204512] Chr5:141388997 [GRCh38]
Chr5:140768564 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1627A>C (p.Ser543Arg) single nucleotide variant Inborn genetic diseases [RCV003302412] Chr5:141419486 [GRCh38]
Chr5:140799053 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1886G>A (p.Arg629His) single nucleotide variant Inborn genetic diseases [RCV003264729] Chr5:141491126 [GRCh38]
Chr5:140870693 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2348A>G (p.Gln783Arg) single nucleotide variant Inborn genetic diseases [RCV003310196] Chr5:141405300 [GRCh38]
Chr5:140784867 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1231G>A (p.Asp411Asn) single nucleotide variant Inborn genetic diseases [RCV003309123] Chr5:141404183 [GRCh38]
Chr5:140783750 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.989A>G (p.Asn330Ser) single nucleotide variant Inborn genetic diseases [RCV003309124] Chr5:141477105 [GRCh38]
Chr5:140856672 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.1511G>A (p.Ser504Asn) single nucleotide variant Inborn genetic diseases [RCV003338313] Chr5:141399638 [GRCh38]
Chr5:140779205 [GRCh37]
Chr5:5q31.3
likely benign
NM_018914.3(PCDHGA11):c.1018G>C (p.Asp340His) single nucleotide variant Inborn genetic diseases [RCV003339357] Chr5:141422245 [GRCh38]
Chr5:140801812 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2426G>A (p.Arg809Gln) single nucleotide variant Inborn genetic diseases [RCV003356760] Chr5:141491666 [GRCh38]
Chr5:140871233 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1862T>A (p.Leu621Gln) single nucleotide variant Inborn genetic diseases [RCV003357392] Chr5:141394675 [GRCh38]
Chr5:140774242 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.299C>G (p.Ser100Trp) single nucleotide variant Inborn genetic diseases [RCV003342285] Chr5:141370693 [GRCh38]
Chr5:140750260 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.2431C>A (p.Gln811Lys) single nucleotide variant Inborn genetic diseases [RCV003359175] Chr5:141494807 [GRCh38]
Chr5:140874374 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1852T>G (p.Ser618Ala) single nucleotide variant Inborn genetic diseases [RCV003343307] Chr5:141394665 [GRCh38]
Chr5:140774232 [GRCh37]
Chr5:5q31.3
likely benign
NM_018929.3(PCDHGC5):c.729A>T (p.Gln243His) single nucleotide variant Inborn genetic diseases [RCV003379302] Chr5:141489969 [GRCh38]
Chr5:140869536 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1057T>C (p.Ser353Pro) single nucleotide variant Inborn genetic diseases [RCV003343455] Chr5:141409259 [GRCh38]
Chr5:140788826 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1861C>G (p.Leu621Val) single nucleotide variant Inborn genetic diseases [RCV003343308] Chr5:141394674 [GRCh38]
Chr5:140774241 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1571C>A (p.Pro524His) single nucleotide variant Inborn genetic diseases [RCV003359110] Chr5:141477687 [GRCh38]
Chr5:140857254 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.408T>G (p.Ser136Arg) single nucleotide variant Inborn genetic diseases [RCV003378740] Chr5:141431167 [GRCh38]
Chr5:140810734 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1259T>A (p.Ile420Asn) single nucleotide variant Inborn genetic diseases [RCV003345506] Chr5:141375342 [GRCh38]
Chr5:140754909 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1310C>T (p.Thr437Ile) single nucleotide variant Inborn genetic diseases [RCV003345650] Chr5:141419169 [GRCh38]
Chr5:140798736 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1085C>T (p.Pro362Leu) single nucleotide variant Inborn genetic diseases [RCV003359748] Chr5:141422312 [GRCh38]
Chr5:140801879 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.838T>C (p.Ser280Pro) single nucleotide variant Inborn genetic diseases [RCV003346121] Chr5:141388722 [GRCh38]
Chr5:140768289 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2275C>T (p.Leu759Phe) single nucleotide variant Inborn genetic diseases [RCV003381559] Chr5:141385174 [GRCh38]
Chr5:140764741 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.250T>A (p.Leu84Ile) single nucleotide variant Inborn genetic diseases [RCV003386914] Chr5:141370644 [GRCh38]
Chr5:140750211 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1825C>T (p.Leu609Phe) single nucleotide variant Inborn genetic diseases [RCV003376390] Chr5:141432584 [GRCh38]
Chr5:140812151 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.360A>C (p.Glu120Asp) single nucleotide variant Inborn genetic diseases [RCV003372098] Chr5:141393173 [GRCh38]
Chr5:140772740 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1202A>T (p.Glu401Val) single nucleotide variant Inborn genetic diseases [RCV003383423] Chr5:141490442 [GRCh38]
Chr5:140870009 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.920T>C (p.Leu307Pro) single nucleotide variant Inborn genetic diseases [RCV003384833] Chr5:141375003 [GRCh38]
Chr5:140754570 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.476A>C (p.Asp159Ala) single nucleotide variant Inborn genetic diseases [RCV003349613] Chr5:141374559 [GRCh38]
Chr5:140754126 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1853C>T (p.Ser618Leu) single nucleotide variant Inborn genetic diseases [RCV003366952] Chr5:141394666 [GRCh38]
Chr5:140774233 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1739G>A (p.Arg580His) single nucleotide variant Inborn genetic diseases [RCV003349658] Chr5:141394552 [GRCh38]
Chr5:140774119 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.2411C>T (p.Pro804Leu) single nucleotide variant Inborn genetic diseases [RCV003351068] Chr5:141415586 [GRCh38]
Chr5:140795153 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1874C>A (p.Ala625Glu) single nucleotide variant Inborn genetic diseases [RCV003377265] Chr5:141400001 [GRCh38]
Chr5:140779568 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2014G>A (p.Glu672Lys) single nucleotide variant Inborn genetic diseases [RCV003367097] Chr5:141491254 [GRCh38]
Chr5:140870821 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.518G>C (p.Ser173Thr) single nucleotide variant Inborn genetic diseases [RCV003367675] Chr5:141374601 [GRCh38]
Chr5:140754168 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1683G>C (p.Glu561Asp) single nucleotide variant Inborn genetic diseases [RCV003375149] Chr5:141375766 [GRCh38]
Chr5:140755333 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1070T>G (p.Leu357Trp) single nucleotide variant Inborn genetic diseases [RCV003362281] Chr5:141409272 [GRCh38]
Chr5:140788839 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2281G>A (p.Ala761Thr) single nucleotide variant Inborn genetic diseases [RCV003347070] Chr5:141385180 [GRCh38]
Chr5:140764747 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2374C>T (p.Leu792Phe) single nucleotide variant Inborn genetic diseases [RCV003361815] Chr5:141423601 [GRCh38]
Chr5:140803168 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.592G>C (p.Glu198Gln) single nucleotide variant Inborn genetic diseases [RCV003349531] Chr5:141421819 [GRCh38]
Chr5:140801386 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.685C>T (p.His229Tyr) single nucleotide variant Inborn genetic diseases [RCV003364557] Chr5:141393498 [GRCh38]
Chr5:140773065 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.191T>G (p.Val64Gly) single nucleotide variant Inborn genetic diseases [RCV003350326] Chr5:141430950 [GRCh38]
Chr5:140810517 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018924.5(PCDHGB3):c.1648G>A (p.Val550Met) single nucleotide variant Inborn genetic diseases [RCV003350327] Chr5:141372042 [GRCh38]
Chr5:140751609 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.119A>G (p.Glu40Gly) single nucleotide variant Inborn genetic diseases [RCV003385341] Chr5:141408321 [GRCh38]
Chr5:140787888 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1512C>A (p.Ser504Arg) single nucleotide variant Inborn genetic diseases [RCV003347798] Chr5:141399639 [GRCh38]
Chr5:140779206 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.29G>A (p.Arg10Gln) single nucleotide variant Inborn genetic diseases [RCV003370430] Chr5:141398156 [GRCh38]
Chr5:140777723 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1869G>A (p.Thr623=) single nucleotide variant Inborn genetic diseases [RCV003386192] Chr5:141432628 [GRCh38]
Chr5:140812195 [GRCh37]
Chr5:5q31.3
likely benign
NM_032088.2(PCDHGA8):c.1136A>G (p.Asn379Ser) single nucleotide variant Inborn genetic diseases [RCV003374568] Chr5:141393949 [GRCh38]
Chr5:140773516 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1640C>T (p.Ser547Leu) single nucleotide variant Inborn genetic diseases [RCV003348134] Chr5:141384539 [GRCh38]
Chr5:140764106 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2282C>A (p.Ala761Glu) single nucleotide variant Inborn genetic diseases [RCV003368712] Chr5:141385181 [GRCh38]
Chr5:140764748 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.921G>T (p.Lys307Asn) single nucleotide variant Inborn genetic diseases [RCV003354374] Chr5:141477037 [GRCh38]
Chr5:140856604 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1954G>A (p.Ala652Thr) single nucleotide variant Inborn genetic diseases [RCV003383629] Chr5:141400081 [GRCh38]
Chr5:140779648 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.748A>G (p.Lys250Glu) single nucleotide variant Inborn genetic diseases [RCV003371708] Chr5:141403700 [GRCh38]
Chr5:140783267 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.1433C>A (p.Ala478Glu) single nucleotide variant Inborn genetic diseases [RCV003376172] Chr5:141486606 [GRCh38]
Chr5:140866173 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.886C>T (p.His296Tyr) single nucleotide variant Inborn genetic diseases [RCV003363824] Chr5:141486059 [GRCh38]
Chr5:140865626 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.131T>C (p.Phe44Ser) single nucleotide variant Inborn genetic diseases [RCV003366564] Chr5:141383030 [GRCh38]
Chr5:140762597 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2022C>T (p.Asp674=) single nucleotide variant not provided [RCV003429845] Chr5:141384921 [GRCh38]
Chr5:140764488 [GRCh37]
Chr5:5q31.3
likely benign
NM_018912.3(PCDHGA1):c.2502C>T (p.Thr834=) single nucleotide variant not provided [RCV003429858] Chr5:141505414 [GRCh38]
Chr5:140884981 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.2397+42563A>G single nucleotide variant not provided [RCV003428654] Chr5:141432844 [GRCh38]
Chr5:140812411 [GRCh37]
Chr5:5q31.3
benign
NM_018921.3(PCDHGA9):c.315C>T (p.Asn105=) single nucleotide variant not provided [RCV003429851] Chr5:141403267 [GRCh38]
Chr5:140782834 [GRCh37]
Chr5:5q31.3
likely benign
NM_018926.3(PCDHGB6):c.2252C>T (p.Ser751Phe) single nucleotide variant not provided [RCV003429853] Chr5:141410454 [GRCh38]
Chr5:140790021 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.1838G>C (p.Gly613Ala) single nucleotide variant not provided [RCV003429847] Chr5:141389722 [GRCh38]
Chr5:140769289 [GRCh37]
Chr5:5q31.3
benign
NM_018913.3(PCDHGA10):c.2109G>C (p.Ala703=) single nucleotide variant not provided [RCV003429855] Chr5:141415284 [GRCh38]
Chr5:140794851 [GRCh37]
Chr5:5q31.3
likely benign
NM_018919.3(PCDHGA6):c.2210G>C (p.Gly737Ala) single nucleotide variant not provided [RCV003429844] Chr5:141376293 [GRCh38]
Chr5:140755860 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.2241C>T (p.Ser747=) single nucleotide variant not provided [RCV003429849] Chr5:141400368 [GRCh38]
Chr5:140779935 [GRCh37]
Chr5:5q31.3
likely benign
NM_018921.3(PCDHGA9):c.48A>G (p.Leu16=) single nucleotide variant not provided [RCV003429850] Chr5:141403000 [GRCh38]
Chr5:140782567 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.1500A>G (p.Ser500=) single nucleotide variant not provided [RCV003429846] Chr5:141389384 [GRCh38]
Chr5:140768951 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.1781C>T (p.Ser594Leu) single nucleotide variant not provided [RCV003429848] Chr5:141399908 [GRCh38]
Chr5:140779475 [GRCh37]
Chr5:5q31.3
benign
NM_018913.3(PCDHGA10):c.990A>G (p.Ala330=) single nucleotide variant not provided [RCV003429854] Chr5:141414165 [GRCh38]
Chr5:140793732 [GRCh37]
Chr5:5q31.3
likely benign
NM_003735.3(PCDHGA12):c.1110T>C (p.Asn370=) single nucleotide variant not provided [RCV003429856] Chr5:141431869 [GRCh38]
Chr5:140811436 [GRCh37]
Chr5:5q31.3
likely benign
NM_003735.3(PCDHGA12):c.1656G>A (p.Val552=) single nucleotide variant not provided [RCV003429857] Chr5:141432415 [GRCh38]
Chr5:140811982 [GRCh37]
Chr5:5q31.3
likely benign
NM_018928.3(PCDHGC4):c.2092G>C (p.Val698Leu) single nucleotide variant not provided [RCV003428655] Chr5:141487265 [GRCh38]
Chr5:140866832 [GRCh37]
Chr5:5q31.3
likely benign
NM_018926.3(PCDHGB6):c.1146C>T (p.Val382=) single nucleotide variant not provided [RCV003429852] Chr5:141409348 [GRCh38]
Chr5:140788915 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.818T>G (p.Val273Gly) single nucleotide variant not provided [RCV003428651] Chr5:141388702 [GRCh38]
Chr5:140768269 [GRCh37]
Chr5:5q31.3
likely benign
NM_018926.3(PCDHGB6):c.1962C>T (p.Leu654=) single nucleotide variant not provided [RCV003428652] Chr5:141410164 [GRCh38]
Chr5:140789731 [GRCh37]
Chr5:5q31.3
likely benign
NM_018926.3(PCDHGB6):c.2268T>C (p.Ile756=) single nucleotide variant not provided [RCV003428653] Chr5:141410470 [GRCh38]
Chr5:140790037 [GRCh37]
Chr5:5q31.3
likely benign
NM_018924.5(PCDHGB3):c.1839G>A (p.Glu613=) single nucleotide variant not provided [RCV003428650] Chr5:141372233 [GRCh38]
Chr5:140751800 [GRCh37]
Chr5:5q31.3
likely benign
NM_018927.4(PCDHGB7):c.1091T>A (p.Val364Glu) single nucleotide variant Inborn genetic diseases [RCV003361990] Chr5:141418950 [GRCh38]
Chr5:140798517 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.2089A>C (p.Ile697Leu) single nucleotide variant Inborn genetic diseases [RCV002669504] Chr5:141389973 [GRCh38]
Chr5:140769540 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1339G>C (p.Asp447His) single nucleotide variant Inborn genetic diseases [RCV003254885] Chr5:141409541 [GRCh38]
Chr5:140789108 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.503A>G (p.Gln168Arg) single nucleotide variant Inborn genetic diseases [RCV003358803] Chr5:141431262 [GRCh38]
Chr5:140810829 [GRCh37]
Chr5:5q31.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1116
Count of miRNA genes:624
Interacting mature miRNAs:713
Transcripts:ENST00000576222
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D5S2538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,832,408 - 140,832,635UniSTSGRCh37
GRCh375140,831,581 - 140,832,635UniSTSGRCh37
Build 365140,812,592 - 140,812,819RGDNCBI36
Celera5136,908,400 - 136,909,454UniSTS
Celera5136,909,227 - 136,909,454RGD
Cytogenetic Map5q31UniSTS
HuRef5135,977,049 - 135,977,276UniSTS
HuRef5135,976,222 - 135,977,276UniSTS
RH91455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,892,257 - 140,892,430UniSTSGRCh37
Build 365140,872,441 - 140,872,614RGDNCBI36
Celera5136,968,993 - 136,969,166RGD
Cytogenetic Map5q31UniSTS
HuRef5136,037,097 - 136,037,270UniSTS
GeneMap99-GB4 RH Map5531.52UniSTS
5q31-33_16  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,775,035 - 140,775,200UniSTSGRCh37
Build 365140,755,219 - 140,755,384RGDNCBI36
Celera5136,851,859 - 136,852,022RGD
Cytogenetic Map5q31UniSTS
HuRef5135,920,057 - 135,920,220UniSTS
5q31-33_17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,770,323 - 140,770,523UniSTSGRCh37
Build 365140,750,507 - 140,750,707RGDNCBI36
Celera5136,847,147 - 136,847,347RGD
Cytogenetic Map5q31UniSTS
HuRef5135,915,399 - 135,915,599UniSTS
5q31-33_24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,812,874 - 140,813,023UniSTSGRCh37
Build 365140,793,058 - 140,793,207RGDNCBI36
Celera5136,889,696 - 136,889,845RGD
Cytogenetic Map5q31UniSTS
PCDHGA9_1502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,784,155 - 140,785,032UniSTSGRCh37
Build 365140,764,339 - 140,765,216RGDNCBI36
Celera5136,860,977 - 136,861,854RGD
HuRef5135,929,175 - 135,930,052UniSTS
PCDHGC3__1203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,857,663 - 140,858,458UniSTSGRCh37
Build 365140,837,847 - 140,838,642RGDNCBI36
Celera5136,934,482 - 136,935,277RGD
HuRef5136,002,509 - 136,003,304UniSTS
PCDHGA6_2010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,755,307 - 140,756,045UniSTSGRCh37
GRCh375140,736,424 - 140,737,162UniSTSGRCh37
Build 365140,716,608 - 140,717,346RGDNCBI36
Celera5136,832,132 - 136,832,870UniSTS
Celera5136,813,249 - 136,813,987RGD
HuRef5135,900,382 - 135,901,120UniSTS
HuRef5135,881,499 - 135,882,237UniSTS
PCDHGB4_2544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,769,205 - 140,769,995UniSTSGRCh37
Build 365140,749,389 - 140,750,179RGDNCBI36
Celera5136,846,029 - 136,846,819RGD
HuRef5135,914,281 - 135,915,071UniSTS
PCDHGC4_2483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,866,700 - 140,867,556UniSTSGRCh37
Build 365140,846,884 - 140,847,740RGDNCBI36
Celera5136,943,519 - 136,944,375RGD
HuRef5136,011,538 - 136,012,394UniSTS
PCDHGA10_7046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,891,154 - 140,891,687UniSTSGRCh37
Build 365140,871,338 - 140,871,871RGDNCBI36
Celera5136,967,890 - 136,968,423RGD
HuRef5136,035,994 - 136,036,527UniSTS
PCDHGA10__7046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,794,669 - 140,795,482UniSTSGRCh37
Build 365140,774,853 - 140,775,666RGDNCBI36
Celera5136,871,491 - 136,872,304RGD
HuRef5135,939,865 - 135,940,678UniSTS
PCDHGB5_v510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,779,441 - 140,780,243UniSTSGRCh37
Build 365140,759,625 - 140,760,427RGDNCBI36
Celera5136,856,263 - 136,857,065RGD
HuRef5135,924,461 - 135,925,263UniSTS
AF053066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,774,916 - 140,775,206UniSTSGRCh37
Build 365140,755,100 - 140,755,390RGDNCBI36
Celera5136,851,740 - 136,852,028RGD
Cytogenetic Map5q31UniSTS
HuRef5135,919,938 - 135,920,226UniSTS
AF022189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,774,916 - 140,775,176UniSTSGRCh37
Build 365140,755,100 - 140,755,360RGDNCBI36
Celera5136,851,740 - 136,851,998RGD
Cytogenetic Map5q31UniSTS
HuRef5135,919,938 - 135,920,196UniSTS
AF022190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,880,757 - 140,881,058UniSTSGRCh37
Build 365140,860,941 - 140,861,242RGDNCBI36
Celera5136,957,497 - 136,957,794RGD
Cytogenetic Map5q31UniSTS
HuRef5136,025,593 - 136,025,890UniSTS
STS-R97031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,823,133 - 140,823,320UniSTSGRCh37
Build 365140,803,317 - 140,803,504RGDNCBI36
Celera5136,899,951 - 136,900,138RGD
Cytogenetic Map5q31UniSTS
HuRef5135,967,926 - 135,968,113UniSTS
GeneMap99-GB4 RH Map5531.52UniSTS
NCBI RH Map5889.1UniSTS
T03558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,892,346 - 140,892,445UniSTSGRCh37
Build 365140,872,530 - 140,872,629RGDNCBI36
Celera5136,969,082 - 136,969,181RGD
Cytogenetic Map5q31UniSTS
HuRef5136,037,186 - 136,037,285UniSTS
Whitehead-YAC Contig Map5 UniSTS
SHGC-76190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,891,057 - 140,891,205UniSTSGRCh37
Build 365140,871,241 - 140,871,389RGDNCBI36
Celera5136,967,793 - 136,967,941RGD
Cytogenetic Map5q31UniSTS
HuRef5136,035,897 - 136,036,045UniSTS
TNG Radiation Hybrid Map565309.0UniSTS
GeneMap99-GB4 RH Map1673.83UniSTS
Whitehead-RH Map1829.9UniSTS
NCBI RH Map11743.5UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 3 1 2
Low 1701 1977 1124 190 561 45 3429 1442 2262 148 1163 1362 153 1000 2187 3
Below cutoff 699 567 513 350 872 337 914 735 1439 228 236 225 17 204 598

Sequence


RefSeq Acc Id: ENST00000576222   ⟹   ENSP00000461862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,370,242 - 141,512,975 (+)Ensembl
RefSeq Acc Id: ENST00000618934   ⟹   ENSP00000483339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,370,395 - 141,372,839 (+)Ensembl
RefSeq Acc Id: NM_018924   ⟹   NP_061747
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,370,242 - 141,512,975 (+)NCBI
GRCh375140,749,962 - 140,892,546 (+)RGD
Build 365140,730,146 - 140,872,730 (+)NCBI Archive
Celera5136,826,787 - 136,969,282 (+)RGD
HuRef5135,895,037 - 136,037,386 (+)ENTREZGENE
CHM1_15140,183,038 - 140,325,823 (+)NCBI
T2T-CHM13v2.05141,895,870 - 142,038,959 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032097   ⟹   NP_115268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,370,242 - 141,372,839 (+)NCBI
GRCh375140,749,962 - 140,892,546 (+)RGD
Build 365140,730,146 - 140,732,590 (+)NCBI Archive
Celera5136,826,787 - 136,969,282 (+)RGD
HuRef5135,895,037 - 136,037,386 (+)ENTREZGENE
CHM1_15140,183,038 - 140,185,613 (+)NCBI
T2T-CHM13v2.05141,895,870 - 141,898,467 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061747   ⟸   NM_018924
- Peptide Label: isoform 1 precursor
- UniProtKB: A7E229 (UniProtKB/Swiss-Prot),   Q9Y5C7 (UniProtKB/Swiss-Prot),   Q9Y5G1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_115268   ⟸   NM_032097
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9Y5G1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000461862   ⟸   ENST00000576222
RefSeq Acc Id: ENSP00000483339   ⟸   ENST00000618934
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5G1-F1-model_v2 AlphaFold Q9Y5G1 1-929 view protein structure

Promoters
RGD ID:6803440
Promoter ID:HG_KWN:51343
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000398620,   NM_018924
Position:
Human AssemblyChrPosition (strand)Source
Build 365140,729,754 - 140,730,254 (+)MPROMDB
RGD ID:6870966
Promoter ID:EPDNEW_H8647
Type:initiation region
Name:PCDHGB3_1
Description:protocadherin gamma subfamily B, 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,370,244 - 141,370,304EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8710 AgrOrtholog
COSMIC PCDHGB3 COSMIC
Ensembl Genes ENSG00000262209 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000576222 ENTREZGENE
  ENST00000576222.2 UniProtKB/Swiss-Prot
  ENST00000618934 ENTREZGENE
  ENST00000618934.1 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot
GTEx ENSG00000262209 GTEx
HGNC ID HGNC:8710 ENTREZGENE
Human Proteome Map PCDHGB3 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot
  Cadherin-like_sf UniProtKB/Swiss-Prot
  Cadherin_C UniProtKB/Swiss-Prot
  Cadherin_CBD UniProtKB/Swiss-Prot
  Cadherin_CS UniProtKB/Swiss-Prot
  Cadherin_N UniProtKB/Swiss-Prot
KEGG Report hsa:56102 UniProtKB/Swiss-Prot
NCBI Gene 56102 ENTREZGENE
OMIM 606301 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot
  PROTOCADHERIN GAMMA-B3-RELATED UniProtKB/Swiss-Prot
Pfam Cadherin UniProtKB/Swiss-Prot
  Cadherin_2 UniProtKB/Swiss-Prot
  Cadherin_C_2 UniProtKB/Swiss-Prot
  Cadherin_tail UniProtKB/Swiss-Prot
PharmGKB PA33058 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot
  CADHERIN_2 UniProtKB/Swiss-Prot
SMART SM00112 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot
UniProt A7E229 ENTREZGENE
  L0R6M0_HUMAN UniProtKB/TrEMBL
  PCDGF_HUMAN UniProtKB/Swiss-Prot
  Q9Y5C7 ENTREZGENE
  Q9Y5G1 ENTREZGENE
UniProt Secondary A7E229 UniProtKB/Swiss-Prot
  Q9Y5C7 UniProtKB/Swiss-Prot