PCDHGA1 (protocadherin gamma subfamily A, 1) - Rat Genome Database

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Gene: PCDHGA1 (protocadherin gamma subfamily A, 1) Homo sapiens
Analyze
Symbol: PCDHGA1
Name: protocadherin gamma subfamily A, 1
RGD ID: 1353144
HGNC Page HGNC:8696
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: MGC138287; MGC138289; PCDH-GAMMA-A1; protocadherin gamma-A1
RGD Orthologs
Mouse
Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,330,514 - 141,512,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,330,514 - 141,512,975 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,710,081 - 140,892,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,690,436 - 140,872,730 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,690,435 - 140,692,907NCBI
Celera5136,787,078 - 136,969,282 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,855,319 - 136,037,386 (+)NCBIHuRef
CHM1_15140,143,455 - 140,325,823 (+)NCBICHM1_1
T2T-CHM13v2.05141,855,819 - 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:20379614   PMID:21873635   PMID:35256949  


Genomics

Comparative Map Data
PCDHGA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,330,514 - 141,512,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,330,514 - 141,512,975 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,710,081 - 140,892,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,690,436 - 140,872,730 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,690,435 - 140,692,907NCBI
Celera5136,787,078 - 136,969,282 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,855,319 - 136,037,386 (+)NCBIHuRef
CHM1_15140,143,455 - 140,325,823 (+)NCBICHM1_1
T2T-CHM13v2.05141,855,819 - 142,038,959 (+)NCBIT2T-CHM13v2.0
Pcdhga1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,794,828 - 37,974,923 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,794,846 - 37,974,926 (+)EnsemblGRCm39 Ensembl
GRCm381837,661,775 - 37,841,870 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1837,661,793 - 37,841,873 (+)EnsemblGRCm38mm10GRCm38
MGSCv371837,821,599 - 38,001,524 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,787,919 - 37,967,844 (+)NCBIMGSCv36mm8
Celera1838,994,463 - 39,185,349 (+)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1819.54NCBI
Pcdhga1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81829,738,639 - 29,919,095 (+)NCBIGRCr8
mRatBN7.21829,487,404 - 29,667,865 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1829,493,954 - 29,667,868 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl1829,487,482 - 29,492,857 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1829,591,744 - 29,772,190 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01830,353,755 - 30,534,170 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01829,689,080 - 29,869,511 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01830,808,404 - 30,971,113 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1830,808,404 - 30,810,824 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01830,502,814 - 30,662,065 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41830,568,805 - 30,754,205 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1829,133,935 - 29,311,954 (+)NCBICelera
Cytogenetic Map18p11NCBI

Variants

.
Variants in PCDHGA1
765 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_018912.2(PCDHGA1):c.1789G>A (p.Asp597Asn) single nucleotide variant Malignant melanoma [RCV000066730] Chr5:141332473 [GRCh38]
Chr5:140712040 [GRCh37]
Chr5:140692224 [NCBI36]
Chr5:5q31.3
not provided
NM_018912.2(PCDHGA1):c.2112C>T (p.Phe704=) single nucleotide variant Malignant melanoma [RCV000066731] Chr5:141332796 [GRCh38]
Chr5:140712363 [GRCh37]
Chr5:140692547 [NCBI36]
Chr5:5q31.3
not provided
NM_018915.3(PCDHGA2):c.1377C>T (p.Thr459=) single nucleotide variant Malignant melanoma [RCV000061161] Chr5:141340348 [GRCh38]
Chr5:140719915 [GRCh37]
Chr5:140700099 [NCBI36]
Chr5:5q31.3
not provided
NM_018915.3(PCDHGA2):c.1384C>T (p.Pro462Ser) single nucleotide variant Malignant melanoma [RCV000061162] Chr5:141340355 [GRCh38]
Chr5:140719922 [GRCh37]
Chr5:140700106 [NCBI36]
Chr5:5q31.3
not provided
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_018915.3(PCDHGA2):c.1793C>T (p.Ser598Leu) single nucleotide variant Malignant melanoma [RCV000066733] Chr5:141340764 [GRCh38]
Chr5:140720331 [GRCh37]
Chr5:140700515 [NCBI36]
Chr5:5q31.3
not provided
NM_018915.3(PCDHGA2):c.2273C>T (p.Ser758Phe) single nucleotide variant Malignant melanoma [RCV000066734] Chr5:141341244 [GRCh38]
Chr5:140720811 [GRCh37]
Chr5:140700995 [NCBI36]
Chr5:5q31.3
not provided
NM_018916.3(PCDHGA3):c.452G>A (p.Arg151Gln) single nucleotide variant Malignant melanoma [RCV000066735] Chr5:141344485 [GRCh38]
Chr5:140724052 [GRCh37]
Chr5:140704236 [NCBI36]
Chr5:5q31.3
not provided
NM_018916.3(PCDHGA3):c.876C>T (p.Phe292=) single nucleotide variant Malignant melanoma [RCV000066736] Chr5:141344909 [GRCh38]
Chr5:140724476 [GRCh37]
Chr5:140704660 [NCBI36]
Chr5:5q31.3
not provided
NM_018917.3(PCDHGA4):c.2340C>T (p.Phe780=) single nucleotide variant Malignant melanoma [RCV000066737] Chr5:141357447 [GRCh38]
Chr5:140737014 [GRCh37]
Chr5:140717198 [NCBI36]
Chr5:5q31.3
not provided
NM_018923.2(PCDHGB2):c.435C>T (p.Ser145=) single nucleotide variant Malignant melanoma [RCV000066738] Chr5:141360570 [GRCh38]
Chr5:140740137 [GRCh37]
Chr5:140720321 [NCBI36]
Chr5:5q31.3
not provided
NM_018923.2(PCDHGB2):c.1240G>A (p.Glu414Lys) single nucleotide variant Malignant melanoma [RCV000066739] Chr5:141361375 [GRCh38]
Chr5:140740942 [GRCh37]
Chr5:140721126 [NCBI36]
Chr5:5q31.3
not provided
NM_018923.2(PCDHGB2):c.2246C>T (p.Pro749Leu) single nucleotide variant Malignant melanoma [RCV000066740] Chr5:141362381 [GRCh38]
Chr5:140741948 [GRCh37]
Chr5:140722132 [NCBI36]
Chr5:5q31.3
not provided
NM_018918.2(PCDHGA5):c.625G>A (p.Asp209Asn) single nucleotide variant Malignant melanoma [RCV000066741] Chr5:141364955 [GRCh38]
Chr5:140744522 [GRCh37]
Chr5:140724706 [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_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_018912.2(PCDHGA1):c.2421+23781C>G single nucleotide variant Lung cancer [RCV000095354] Chr5:141356886 [GRCh38]
Chr5:140736453 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.3(PCDHGA3):c.1923C>T (p.Ser641=) single nucleotide variant Malignant melanoma [RCV000061163] Chr5:141345956 [GRCh38]
Chr5:140725523 [GRCh37]
Chr5:140705707 [NCBI36]
Chr5:5q31.3
not provided
NM_018915.3(PCDHGA2):c.1031C>T (p.Ala344Val) single nucleotide variant Malignant melanoma [RCV000066732] Chr5:141340002 [GRCh38]
Chr5:140719569 [GRCh37]
Chr5:140699753 [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_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_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_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_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_018915.4(PCDHGA2):c.2191A>G (p.Ser731Gly) single nucleotide variant Inborn genetic diseases [RCV003254301] Chr5:141341162 [GRCh38]
Chr5:140720729 [GRCh37]
Chr5:5q31.3
likely benign
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_018916.4(PCDHGA3):c.1877T>A (p.Val626Glu) single nucleotide variant Inborn genetic diseases [RCV003240700] Chr5:141345910 [GRCh38]
Chr5:140725477 [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_018912.3(PCDHGA1):c.1706C>A (p.Thr569Lys) single nucleotide variant Inborn genetic diseases [RCV003248155] Chr5:141332390 [GRCh38]
Chr5:140711957 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.220G>A (p.Val74Ile) single nucleotide variant Inborn genetic diseases [RCV003300233] Chr5:141350480 [GRCh38]
Chr5:140730047 [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_018923.3(PCDHGB2):c.320A>T (p.Asp107Val) single nucleotide variant Inborn genetic diseases [RCV003277043] Chr5:141360455 [GRCh38]
Chr5:140740022 [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_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_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_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_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_018915.4(PCDHGA2):c.508T>C (p.Tyr170His) single nucleotide variant Inborn genetic diseases [RCV003304361] Chr5:141339479 [GRCh38]
Chr5:140719046 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.1033C>T (p.Pro345Ser) single nucleotide variant Inborn genetic diseases [RCV003259964] Chr5:141345066 [GRCh38]
Chr5:140724633 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.569A>G (p.Lys190Arg) single nucleotide variant Inborn genetic diseases [RCV003308508] Chr5:141344602 [GRCh38]
Chr5:140724169 [GRCh37]
Chr5:5q31.3
uncertain significance
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.1584C>G (p.Phe528Leu) single nucleotide variant Inborn genetic diseases [RCV003302410] Chr5:141419443 [GRCh38]
Chr5:140799010 [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_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_018918.3(PCDHGA5):c.604C>T (p.Arg202Cys) single nucleotide variant Inborn genetic diseases [RCV003281578] Chr5:141364934 [GRCh38]
Chr5:140744501 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.1525G>C (p.Val509Leu) single nucleotide variant Inborn genetic diseases [RCV003305722] Chr5:141351785 [GRCh38]
Chr5:140731352 [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_018918.3(PCDHGA5):c.194G>T (p.Arg65Leu) single nucleotide variant Inborn genetic diseases [RCV003285455] Chr5:141364524 [GRCh38]
Chr5:140744091 [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_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_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_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_018918.3(PCDHGA5):c.1115A>C (p.His372Pro) single nucleotide variant Inborn genetic diseases [RCV003277216] Chr5:141365445 [GRCh38]
Chr5:140745012 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.1646G>A (p.Ser549Asn) single nucleotide variant Inborn genetic diseases [RCV003245490] Chr5:141340617 [GRCh38]
Chr5:140720184 [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_018916.4(PCDHGA3):c.572A>G (p.Tyr191Cys) single nucleotide variant Inborn genetic diseases [RCV003277541] Chr5:141344605 [GRCh38]
Chr5:140724172 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.1397C>T (p.Ser466Phe) single nucleotide variant Inborn genetic diseases [RCV003273454] Chr5:141351657 [GRCh38]
Chr5:140731224 [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_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_018917.4(PCDHGA4):c.293T>C (p.Val98Ala) single nucleotide variant Inborn genetic diseases [RCV003292817] Chr5:141355400 [GRCh38]
Chr5:140734967 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018923.3(PCDHGB2):c.83C>G (p.Ala28Gly) single nucleotide variant Inborn genetic diseases [RCV003292829] Chr5:141360218 [GRCh38]
Chr5:140739785 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018923.3(PCDHGB2):c.1976C>T (p.Thr659Met) single nucleotide variant Inborn genetic diseases [RCV003275109] Chr5:141362111 [GRCh38]
Chr5:140741678 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.425T>C (p.Ile142Thr) single nucleotide variant Inborn genetic diseases [RCV003242877] Chr5:141339396 [GRCh38]
Chr5:140718963 [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_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_018922.3(PCDHGB1):c.1572C>G (p.Phe524Leu) single nucleotide variant Inborn genetic diseases [RCV003266753] Chr5:141351832 [GRCh38]
Chr5:140731399 [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_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
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_018915.4(PCDHGA2):c.1505C>G (p.Ser502Cys) single nucleotide variant Inborn genetic diseases [RCV003267682] Chr5:141340476 [GRCh38]
Chr5:140720043 [GRCh37]
Chr5:5q31.3
uncertain significance
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_018918.3(PCDHGA5):c.2071C>T (p.Leu691Phe) single nucleotide variant Inborn genetic diseases [RCV003245725] Chr5:141366401 [GRCh38]
Chr5:140745968 [GRCh37]
Chr5:5q31.3
likely benign
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_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.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.262G>A (p.Asp88Asn) single nucleotide variant Inborn genetic diseases [RCV003266765] Chr5:141418121 [GRCh38]
Chr5:140797688 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.2436C>G (p.Ser812Arg) single nucleotide variant Inborn genetic diseases [RCV003244775] Chr5:141357543 [GRCh38]
Chr5:140737110 [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_018917.4(PCDHGA4):c.1028C>T (p.Ser343Phe) single nucleotide variant Inborn genetic diseases [RCV003248641] Chr5:141356135 [GRCh38]
Chr5:140735702 [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_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_018918.3(PCDHGA5):c.425T>C (p.Val142Ala) single nucleotide variant Inborn genetic diseases [RCV003288991] Chr5:141364755 [GRCh38]
Chr5:140744322 [GRCh37]
Chr5:5q31.3
uncertain significance
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
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_018916.4(PCDHGA3):c.1852T>G (p.Ser618Ala) single nucleotide variant Inborn genetic diseases [RCV003288836] Chr5:141345885 [GRCh38]
Chr5:140725452 [GRCh37]
Chr5:5q31.3
likely benign
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_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_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_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_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_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_018917.4(PCDHGA4):c.100G>A (p.Ala34Thr) single nucleotide variant Inborn genetic diseases [RCV003251522] Chr5:141355207 [GRCh38]
Chr5:140734774 [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_018918.3(PCDHGA5):c.638C>T (p.Thr213Ile) single nucleotide variant Inborn genetic diseases [RCV003239773] Chr5:141364968 [GRCh38]
Chr5:140744535 [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_018912.3(PCDHGA1):c.695T>C (p.Val232Ala) single nucleotide variant Inborn genetic diseases [RCV003241517] Chr5:141331379 [GRCh38]
Chr5:140710946 [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_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_018922.3(PCDHGB1):c.1886G>A (p.Gly629Asp) single nucleotide variant Inborn genetic diseases [RCV003251488] Chr5:141352146 [GRCh38]
Chr5:140731713 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.1142C>T (p.Thr381Ile) single nucleotide variant Inborn genetic diseases [RCV003292050] Chr5:141356249 [GRCh38]
Chr5:140735816 [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_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_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_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_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_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_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
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_018912.3(PCDHGA1):c.2421+11388A>C single nucleotide variant not provided [RCV001720919] Chr5:141344493 [GRCh38]
Chr5:140724060 [GRCh37]
Chr5:5q31.3
benign
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_018916.4(PCDHGA3):c.2005C>T (p.Pro669Ser) single nucleotide variant Inborn genetic diseases [RCV002901093] Chr5:141346038 [GRCh38]
Chr5:140725605 [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_018912.3(PCDHGA1):c.2421+29089A>G single nucleotide variant not provided [RCV001687927] Chr5:141362194 [GRCh38]
Chr5:140741761 [GRCh37]
Chr5:5q31.3
benign
NM_018922.3(PCDHGB1):c.2409+9502G>C single nucleotide variant not provided [RCV001645180] Chr5:141362171 [GRCh38]
Chr5:140741738 [GRCh37]
Chr5:5q31.3
benign
NM_018912.3(PCDHGA1):c.2421+22543G>A single nucleotide variant not provided [RCV001684883] Chr5:141355648 [GRCh38]
Chr5:140735215 [GRCh37]
Chr5:5q31.3
benign
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.324del (p.Phe108fs) deletion Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248463] Chr5:141485495 [GRCh38]
Chr5:140865062 [GRCh37]
Chr5:5q31.3
pathogenic
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.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_018912.3(PCDHGA1):c.2210G>T (p.Gly737Val) single nucleotide variant Inborn genetic diseases [RCV003254077] Chr5:141332894 [GRCh38]
Chr5:140712461 [GRCh37]
Chr5:5q31.3
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_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_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_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.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
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_018916.4(PCDHGA3):c.1390A>G (p.Asn464Asp) single nucleotide variant Inborn genetic diseases [RCV003297962] Chr5:141345423 [GRCh38]
Chr5:140724990 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.1280A>C (p.His427Pro) single nucleotide variant Inborn genetic diseases [RCV003281421] Chr5:141365610 [GRCh38]
Chr5:140745177 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018912.3(PCDHGA1):c.598T>G (p.Leu200Val) single nucleotide variant Inborn genetic diseases [RCV003305060] Chr5:141331282 [GRCh38]
Chr5:140710849 [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_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_018917.4(PCDHGA4):c.2471T>G (p.Ile824Arg) single nucleotide variant Inborn genetic diseases [RCV003301043] Chr5:141357578 [GRCh38]
Chr5:140737145 [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
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3 copy number gain not provided [RCV002474614] Chr5:140082762..140773954 [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_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
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_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_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_018915.4(PCDHGA2):c.2023C>G (p.Leu675Val) single nucleotide variant Inborn genetic diseases [RCV002990262] Chr5:141340994 [GRCh38]
Chr5:140720561 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.2220T>A (p.Phe740Leu) single nucleotide variant Inborn genetic diseases [RCV003287726] Chr5:141346253 [GRCh38]
Chr5:140725820 [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_018922.3(PCDHGB1):c.2393C>A (p.Pro798His) single nucleotide variant Inborn genetic diseases [RCV003307158] Chr5:141352653 [GRCh38]
Chr5:140732220 [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_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_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_018922.3(PCDHGB1):c.647A>G (p.Asp216Gly) single nucleotide variant Inborn genetic diseases [RCV002683965] Chr5:141350907 [GRCh38]
Chr5:140730474 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.1820A>G (p.Glu607Gly) single nucleotide variant Inborn genetic diseases [RCV002902773] Chr5:141356927 [GRCh38]
Chr5:140736494 [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_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_018916.4(PCDHGA3):c.1543T>A (p.Tyr515Asn) single nucleotide variant Inborn genetic diseases [RCV002682749] Chr5:141345576 [GRCh38]
Chr5:140725143 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.1003G>A (p.Val335Ile) single nucleotide variant Inborn genetic diseases [RCV002753532] Chr5:141339974 [GRCh38]
Chr5:140719541 [GRCh37]
Chr5:5q31.3
likely benign
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_018923.3(PCDHGB2):c.1208A>G (p.Lys403Arg) single nucleotide variant Inborn genetic diseases [RCV002687584] Chr5:141361343 [GRCh38]
Chr5:140740910 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.275G>A (p.Arg92Gln) single nucleotide variant Inborn genetic diseases [RCV002753259] Chr5:141364605 [GRCh38]
Chr5:140744172 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.1349C>T (p.Pro450Leu) single nucleotide variant Inborn genetic diseases [RCV002906031] Chr5:141365679 [GRCh38]
Chr5:140745246 [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_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_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_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_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_018918.3(PCDHGA5):c.1409C>A (p.Ser470Tyr) single nucleotide variant Inborn genetic diseases [RCV002687178] Chr5:141365739 [GRCh38]
Chr5:140745306 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.2176G>A (p.Gly726Ser) single nucleotide variant Inborn genetic diseases [RCV002907275] Chr5:141352436 [GRCh38]
Chr5:140732003 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018912.3(PCDHGA1):c.571C>T (p.His191Tyr) single nucleotide variant Inborn genetic diseases [RCV002772330] Chr5:141331255 [GRCh38]
Chr5:140710822 [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_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_018916.4(PCDHGA3):c.1907A>G (p.Asp636Gly) single nucleotide variant Inborn genetic diseases [RCV002901520] Chr5:141345940 [GRCh38]
Chr5:140725507 [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_018916.4(PCDHGA3):c.187G>C (p.Gly63Arg) single nucleotide variant Inborn genetic diseases [RCV003013033] Chr5:141344220 [GRCh38]
Chr5:140723787 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018912.3(PCDHGA1):c.638C>T (p.Thr213Ile) single nucleotide variant Inborn genetic diseases [RCV002882703] Chr5:141331322 [GRCh38]
Chr5:140710889 [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
NM_018916.4(PCDHGA3):c.1061G>A (p.Ser354Asn) single nucleotide variant Inborn genetic diseases [RCV002865225] Chr5:141345094 [GRCh38]
Chr5:140724661 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.1618C>T (p.Pro540Ser) single nucleotide variant Inborn genetic diseases [RCV002779856] Chr5:141345651 [GRCh38]
Chr5:140725218 [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_018916.4(PCDHGA3):c.1696G>T (p.Ala566Ser) single nucleotide variant Inborn genetic diseases [RCV002753315] Chr5:141345729 [GRCh38]
Chr5:140725296 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.635T>C (p.Met212Thr) single nucleotide variant Inborn genetic diseases [RCV002689604] Chr5:141350895 [GRCh38]
Chr5:140730462 [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_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.2293A>C (p.Lys765Gln) single nucleotide variant Inborn genetic diseases [RCV002794110] Chr5:141433052 [GRCh38]
Chr5:140812619 [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_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_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_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_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_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_018917.4(PCDHGA4):c.2188G>A (p.Ala730Thr) single nucleotide variant Inborn genetic diseases [RCV002689602] Chr5:141357295 [GRCh38]
Chr5:140736862 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.1654G>A (p.Val552Met) single nucleotide variant Inborn genetic diseases [RCV002732859] Chr5:141340625 [GRCh38]
Chr5:140720192 [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_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_018922.3(PCDHGB1):c.22G>A (p.Glu8Lys) single nucleotide variant Inborn genetic diseases [RCV002968744] Chr5:141350282 [GRCh38]
Chr5:140729849 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018923.3(PCDHGB2):c.1648G>C (p.Val550Leu) single nucleotide variant Inborn genetic diseases [RCV002836752] Chr5:141361783 [GRCh38]
Chr5:140741350 [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_018915.4(PCDHGA2):c.2152C>T (p.Arg718Cys) single nucleotide variant Inborn genetic diseases [RCV002883523] Chr5:141341123 [GRCh38]
Chr5:140720690 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.191T>C (p.Leu64Pro) single nucleotide variant Inborn genetic diseases [RCV002772501] Chr5:141350451 [GRCh38]
Chr5:140730018 [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_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_018917.4(PCDHGA4):c.1658A>C (p.Tyr553Ser) single nucleotide variant Inborn genetic diseases [RCV002686543] Chr5:141356765 [GRCh38]
Chr5:140736332 [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_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_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_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_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_018923.3(PCDHGB2):c.284T>C (p.Ile95Thr) single nucleotide variant Inborn genetic diseases [RCV002901872] Chr5:141360419 [GRCh38]
Chr5:140739986 [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_018917.4(PCDHGA4):c.466G>T (p.Asp156Tyr) single nucleotide variant Inborn genetic diseases [RCV002727400] Chr5:141355573 [GRCh38]
Chr5:140735140 [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_018918.3(PCDHGA5):c.679C>T (p.His227Tyr) single nucleotide variant Inborn genetic diseases [RCV002973500] Chr5:141365009 [GRCh38]
Chr5:140744576 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018912.3(PCDHGA1):c.688A>G (p.Ile230Val) single nucleotide variant Inborn genetic diseases [RCV002945179] Chr5:141331372 [GRCh38]
Chr5:140710939 [GRCh37]
Chr5:5q31.3
likely benign
NM_018916.4(PCDHGA3):c.1529A>G (p.Asn510Ser) single nucleotide variant Inborn genetic diseases [RCV002686900] Chr5:141345562 [GRCh38]
Chr5:140725129 [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_018922.3(PCDHGB1):c.66G>T (p.Leu22Phe) single nucleotide variant Inborn genetic diseases [RCV002687480] Chr5:141350326 [GRCh38]
Chr5:140729893 [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_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_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_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_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_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.536C>T (p.Ser179Phe) single nucleotide variant Inborn genetic diseases [RCV002688484] Chr5:141370930 [GRCh38]
Chr5:140750497 [GRCh37]
Chr5:5q31.3
likely benign
NM_018917.4(PCDHGA4):c.1363G>A (p.Ala455Thr) single nucleotide variant Inborn genetic diseases [RCV002687143] Chr5:141356470 [GRCh38]
Chr5:140736037 [GRCh37]
Chr5:5q31.3
uncertain significance
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_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_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_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.2458G>A (p.Glu820Lys) single nucleotide variant Inborn genetic diseases [RCV002858887] Chr5:141357565 [GRCh38]
Chr5:140737132 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.1739C>T (p.Pro580Leu) single nucleotide variant Inborn genetic diseases [RCV002728872] Chr5:141351999 [GRCh38]
Chr5:140731566 [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_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_018923.3(PCDHGB2):c.224T>G (p.Phe75Cys) single nucleotide variant Inborn genetic diseases [RCV002905585] Chr5:141360359 [GRCh38]
Chr5:140739926 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.1034C>T (p.Pro345Leu) single nucleotide variant Inborn genetic diseases [RCV003012857] Chr5:141345067 [GRCh38]
Chr5:140724634 [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_018923.3(PCDHGB2):c.957C>G (p.Ile319Met) single nucleotide variant Inborn genetic diseases [RCV002879673] Chr5:141361092 [GRCh38]
Chr5:140740659 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018923.3(PCDHGB2):c.1949G>T (p.Gly650Val) single nucleotide variant Inborn genetic diseases [RCV002683939] Chr5:141362084 [GRCh38]
Chr5:140741651 [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_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_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_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_018922.3(PCDHGB1):c.1774G>A (p.Ala592Thr) single nucleotide variant Inborn genetic diseases [RCV002973713] Chr5:141352034 [GRCh38]
Chr5:140731601 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.1904G>T (p.Arg635Leu) single nucleotide variant Inborn genetic diseases [RCV002689603] Chr5:141352164 [GRCh38]
Chr5:140731731 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.2275A>G (p.Thr759Ala) single nucleotide variant Inborn genetic diseases [RCV002689922] Chr5:141352535 [GRCh38]
Chr5:140732102 [GRCh37]
Chr5:5q31.3
uncertain significance
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_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_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_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_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_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_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_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_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_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_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_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_018915.4(PCDHGA2):c.793A>G (p.Thr265Ala) single nucleotide variant Inborn genetic diseases [RCV002859662] Chr5:141339764 [GRCh38]
Chr5:140719331 [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_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_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_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_018912.3(PCDHGA1):c.1475T>C (p.Ile492Thr) single nucleotide variant Inborn genetic diseases [RCV002860174] Chr5:141332159 [GRCh38]
Chr5:140711726 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.2106C>G (p.Cys702Trp) single nucleotide variant Inborn genetic diseases [RCV002688149] Chr5:141341077 [GRCh38]
Chr5:140720644 [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_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_018915.4(PCDHGA2):c.511G>C (p.Ala171Pro) single nucleotide variant Inborn genetic diseases [RCV002799666] Chr5:141339482 [GRCh38]
Chr5:140719049 [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_018922.3(PCDHGB1):c.1868G>T (p.Arg623Leu) single nucleotide variant Inborn genetic diseases [RCV002849639] Chr5:141352128 [GRCh38]
Chr5:140731695 [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_018923.3(PCDHGB2):c.1535G>T (p.Gly512Val) single nucleotide variant Inborn genetic diseases [RCV002911255] Chr5:141361670 [GRCh38]
Chr5:140741237 [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_018912.3(PCDHGA1):c.328G>T (p.Val110Phe) single nucleotide variant Inborn genetic diseases [RCV002708369] Chr5:141331012 [GRCh38]
Chr5:140710579 [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_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_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_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_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_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_018912.3(PCDHGA1):c.665G>A (p.Arg222His) single nucleotide variant Inborn genetic diseases [RCV002980177] Chr5:141331349 [GRCh38]
Chr5:140710916 [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_018916.4(PCDHGA3):c.755G>T (p.Trp252Leu) single nucleotide variant Inborn genetic diseases [RCV002981795] Chr5:141344788 [GRCh38]
Chr5:140724355 [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_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_018916.4(PCDHGA3):c.2282C>A (p.Ala761Glu) single nucleotide variant Inborn genetic diseases [RCV002845251] Chr5:141346315 [GRCh38]
Chr5:140725882 [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_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_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_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_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_018917.4(PCDHGA4):c.1348A>G (p.Asn450Asp) single nucleotide variant Inborn genetic diseases [RCV002844321] Chr5:141356455 [GRCh38]
Chr5:140736022 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.347T>C (p.Val116Ala) single nucleotide variant Inborn genetic diseases [RCV002910420] Chr5:141355454 [GRCh38]
Chr5:140735021 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.2048T>A (p.Ile683Lys) single nucleotide variant Inborn genetic diseases [RCV002869047] Chr5:141341019 [GRCh38]
Chr5:140720586 [GRCh37]
Chr5:5q31.3
likely benign
NM_018923.3(PCDHGB2):c.106T>C (p.Ser36Pro) single nucleotide variant Inborn genetic diseases [RCV002797738] Chr5:141360241 [GRCh38]
Chr5:140739808 [GRCh37]
Chr5:5q31.3
uncertain significance
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_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_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_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_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.1684G>T (p.Ala562Ser) single nucleotide variant Inborn genetic diseases [RCV002926284] Chr5:141399811 [GRCh38]
Chr5:140779378 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.1225G>T (p.Asp409Tyr) single nucleotide variant Inborn genetic diseases [RCV002784151] Chr5:141365555 [GRCh38]
Chr5:140745122 [GRCh37]
Chr5:5q31.3
uncertain significance
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_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_018912.3(PCDHGA1):c.1582A>G (p.Met528Val) single nucleotide variant Inborn genetic diseases [RCV002911394] Chr5:141332266 [GRCh38]
Chr5:140711833 [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_018923.3(PCDHGB2):c.2123T>C (p.Ile708Thr) single nucleotide variant Inborn genetic diseases [RCV002924666] Chr5:141362258 [GRCh38]
Chr5:140741825 [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_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_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_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_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_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_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_018918.3(PCDHGA5):c.1193T>C (p.Val398Ala) single nucleotide variant Inborn genetic diseases [RCV002868945] Chr5:141365523 [GRCh38]
Chr5:140745090 [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_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_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_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_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_018922.3(PCDHGB1):c.1775C>A (p.Ala592Glu) single nucleotide variant Inborn genetic diseases [RCV002977429] Chr5:141352035 [GRCh38]
Chr5:140731602 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.890C>A (p.Thr297Lys) single nucleotide variant Inborn genetic diseases [RCV002869692] Chr5:141339861 [GRCh38]
Chr5:140719428 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018912.3(PCDHGA1):c.574C>T (p.Pro192Ser) single nucleotide variant Inborn genetic diseases [RCV002998214] Chr5:141331258 [GRCh38]
Chr5:140710825 [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_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_018918.3(PCDHGA5):c.524A>G (p.Asn175Ser) single nucleotide variant Inborn genetic diseases [RCV002926278] Chr5:141364854 [GRCh38]
Chr5:140744421 [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_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_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_018916.4(PCDHGA3):c.1264C>G (p.Leu422Val) single nucleotide variant Inborn genetic diseases [RCV002781825] Chr5:141345297 [GRCh38]
Chr5:140724864 [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_018918.3(PCDHGA5):c.199G>A (p.Val67Ile) single nucleotide variant Inborn genetic diseases [RCV002799966] Chr5:141364529 [GRCh38]
Chr5:140744096 [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_018912.3(PCDHGA1):c.1718C>G (p.Thr573Ser) single nucleotide variant Inborn genetic diseases [RCV002888360] Chr5:141332402 [GRCh38]
Chr5:140711969 [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.2173G>A (p.Asp725Asn) single nucleotide variant Inborn genetic diseases [RCV002911095] Chr5:141420032 [GRCh38]
Chr5:140799599 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.724G>A (p.Val242Ile) single nucleotide variant Inborn genetic diseases [RCV002925192] Chr5:141355831 [GRCh38]
Chr5:140735398 [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_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_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_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_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.70T>C (p.Trp24Arg) single nucleotide variant Inborn genetic diseases [RCV002759323] Chr5:141382969 [GRCh38]
Chr5:140762536 [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_018915.4(PCDHGA2):c.1721G>T (p.Gly574Val) single nucleotide variant Inborn genetic diseases [RCV002691543] Chr5:141340692 [GRCh38]
Chr5:140720259 [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_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_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_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_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.218G>A (p.Arg73His) single nucleotide variant Inborn genetic diseases [RCV002693330] Chr5:141489458 [GRCh38]
Chr5:140869025 [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_018916.4(PCDHGA3):c.2297G>T (p.Ser766Ile) single nucleotide variant Inborn genetic diseases [RCV002980228] Chr5:141346330 [GRCh38]
Chr5:140725897 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.684C>G (p.Ile228Met) single nucleotide variant Inborn genetic diseases [RCV002912149] Chr5:141339655 [GRCh38]
Chr5:140719222 [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_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_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_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_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_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_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_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_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_018918.3(PCDHGA5):c.2242G>A (p.Ala748Thr) single nucleotide variant Inborn genetic diseases [RCV002758617] Chr5:141366572 [GRCh38]
Chr5:140746139 [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_018916.4(PCDHGA3):c.1982C>T (p.Thr661Ile) single nucleotide variant Inborn genetic diseases [RCV002952058] Chr5:141346015 [GRCh38]
Chr5:140725582 [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_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_018922.3(PCDHGB1):c.1828C>T (p.Pro610Ser) single nucleotide variant Inborn genetic diseases [RCV002786866] Chr5:141352088 [GRCh38]
Chr5:140731655 [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_018918.3(PCDHGA5):c.143T>C (p.Ile48Thr) single nucleotide variant Inborn genetic diseases [RCV002767560] Chr5:141364473 [GRCh38]
Chr5:140744040 [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_018918.3(PCDHGA5):c.1453G>T (p.Ala485Ser) single nucleotide variant Inborn genetic diseases [RCV002853530] Chr5:141365783 [GRCh38]
Chr5:140745350 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.2228T>C (p.Val743Ala) single nucleotide variant Inborn genetic diseases [RCV002668139] Chr5:141341199 [GRCh38]
Chr5:140720766 [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_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_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_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_018917.4(PCDHGA4):c.2345A>T (p.Gln782Leu) single nucleotide variant Inborn genetic diseases [RCV002987545] Chr5:141357452 [GRCh38]
Chr5:140737019 [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_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_018912.3(PCDHGA1):c.1465T>C (p.Tyr489His) single nucleotide variant Inborn genetic diseases [RCV002981812] Chr5:141332149 [GRCh38]
Chr5:140711716 [GRCh37]
Chr5:5q31.3
uncertain significance
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_018915.4(PCDHGA2):c.203C>A (p.Ser68Tyr) single nucleotide variant Inborn genetic diseases [RCV002893520] Chr5:141339174 [GRCh38]
Chr5:140718741 [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_018912.3(PCDHGA1):c.94C>A (p.His32Asn) single nucleotide variant Inborn genetic diseases [RCV002804083] Chr5:141330778 [GRCh38]
Chr5:140710345 [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_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_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_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_018916.4(PCDHGA3):c.1007C>T (p.Thr336Met) single nucleotide variant Inborn genetic diseases [RCV002665634] Chr5:141345040 [GRCh38]
Chr5:140724607 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018923.3(PCDHGB2):c.2056G>A (p.Ala686Thr) single nucleotide variant Inborn genetic diseases [RCV002931607] Chr5:141362191 [GRCh38]
Chr5:140741758 [GRCh37]
Chr5:5q31.3
likely benign
NM_018923.3(PCDHGB2):c.715C>G (p.Pro239Ala) single nucleotide variant Inborn genetic diseases [RCV002697483] Chr5:141360850 [GRCh38]
Chr5:140740417 [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_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_018916.4(PCDHGA3):c.2395G>A (p.Glu799Lys) single nucleotide variant Inborn genetic diseases [RCV002787900] Chr5:141346428 [GRCh38]
Chr5:140725995 [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_018917.4(PCDHGA4):c.538G>A (p.Gly180Arg) single nucleotide variant Inborn genetic diseases [RCV002697995] Chr5:141355645 [GRCh38]
Chr5:140735212 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.315A>C (p.Lys105Asn) single nucleotide variant Inborn genetic diseases [RCV002874350] Chr5:141344348 [GRCh38]
Chr5:140723915 [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_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_018912.3(PCDHGA1):c.270A>G (p.Ile90Met) single nucleotide variant Inborn genetic diseases [RCV002891573] Chr5:141330954 [GRCh38]
Chr5:140710521 [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_018915.4(PCDHGA2):c.40G>A (p.Val14Ile) single nucleotide variant Inborn genetic diseases [RCV002955749] Chr5:141339011 [GRCh38]
Chr5:140718578 [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_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_018915.4(PCDHGA2):c.2161A>G (p.Lys721Glu) single nucleotide variant Inborn genetic diseases [RCV002954793] Chr5:141341132 [GRCh38]
Chr5:140720699 [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_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_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_018923.3(PCDHGB2):c.525C>A (p.Asn175Lys) single nucleotide variant Inborn genetic diseases [RCV003004492] Chr5:141360660 [GRCh38]
Chr5:140740227 [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_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_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_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_018912.3(PCDHGA1):c.2141A>T (p.His714Leu) single nucleotide variant Inborn genetic diseases [RCV002645318] Chr5:141332825 [GRCh38]
Chr5:140712392 [GRCh37]
Chr5:5q31.3
likely benign
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_018912.3(PCDHGA1):c.870A>C (p.Gln290His) single nucleotide variant Inborn genetic diseases [RCV002789353] Chr5:141331554 [GRCh38]
Chr5:140711121 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.2276T>A (p.Leu759His) single nucleotide variant Inborn genetic diseases [RCV002987154] Chr5:141366606 [GRCh38]
Chr5:140746173 [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_018915.4(PCDHGA2):c.1156C>T (p.Leu386Phe) single nucleotide variant Inborn genetic diseases [RCV002664823] Chr5:141340127 [GRCh38]
Chr5:140719694 [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_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_018915.4(PCDHGA2):c.631G>A (p.Val211Ile) single nucleotide variant Inborn genetic diseases [RCV002984067] Chr5:141339602 [GRCh38]
Chr5:140719169 [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_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_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_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_018915.4(PCDHGA2):c.1572G>T (p.Gln524His) single nucleotide variant Inborn genetic diseases [RCV002956928] Chr5:141340543 [GRCh38]
Chr5:140720110 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.1495G>T (p.Ala499Ser) single nucleotide variant Inborn genetic diseases [RCV002745188] Chr5:141365825 [GRCh38]
Chr5:140745392 [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_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_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_018923.3(PCDHGB2):c.1197G>T (p.Lys399Asn) single nucleotide variant Inborn genetic diseases [RCV002665927] Chr5:141361332 [GRCh38]
Chr5:140740899 [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_018923.3(PCDHGB2):c.272A>G (p.Asp91Gly) single nucleotide variant Inborn genetic diseases [RCV003003560] Chr5:141360407 [GRCh38]
Chr5:140739974 [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_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_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_018918.3(PCDHGA5):c.2390T>C (p.Val797Ala) single nucleotide variant Inborn genetic diseases [RCV002917056] Chr5:141366720 [GRCh38]
Chr5:140746287 [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_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_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_018915.4(PCDHGA2):c.2055C>G (p.Asn685Lys) single nucleotide variant Inborn genetic diseases [RCV002983395] Chr5:141341026 [GRCh38]
Chr5:140720593 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018923.3(PCDHGB2):c.1387G>C (p.Glu463Gln) single nucleotide variant Inborn genetic diseases [RCV003003762] Chr5:141361522 [GRCh38]
Chr5:140741089 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.26A>G (p.His9Arg) single nucleotide variant Inborn genetic diseases [RCV002789424] Chr5:141338997 [GRCh38]
Chr5:140718564 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.2227G>T (p.Val743Leu) single nucleotide variant Inborn genetic diseases [RCV002697854] Chr5:141366557 [GRCh38]
Chr5:140746124 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.2138C>T (p.Ala713Val) single nucleotide variant Inborn genetic diseases [RCV002765112] Chr5:141346171 [GRCh38]
Chr5:140725738 [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_018918.3(PCDHGA5):c.1336A>G (p.Asn446Asp) single nucleotide variant Inborn genetic diseases [RCV002930723] Chr5:141365666 [GRCh38]
Chr5:140745233 [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_018916.4(PCDHGA3):c.2225G>A (p.Gly742Asp) single nucleotide variant Inborn genetic diseases [RCV002802668] Chr5:141346258 [GRCh38]
Chr5:140725825 [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_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_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_018915.4(PCDHGA2):c.653G>T (p.Gly218Val) single nucleotide variant Inborn genetic diseases [RCV002827196] Chr5:141339624 [GRCh38]
Chr5:140719191 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.1865T>C (p.Val622Ala) single nucleotide variant Inborn genetic diseases [RCV002828005] Chr5:141356972 [GRCh38]
Chr5:140736539 [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_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_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_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_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_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_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_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_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_018923.3(PCDHGB2):c.1735C>T (p.Pro579Ser) single nucleotide variant Inborn genetic diseases [RCV002855088] Chr5:141361870 [GRCh38]
Chr5:140741437 [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_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_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_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_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_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_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_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_018918.3(PCDHGA5):c.2288C>T (p.Ser763Leu) single nucleotide variant Inborn genetic diseases [RCV002718540] Chr5:141366618 [GRCh38]
Chr5:140746185 [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_018918.3(PCDHGA5):c.301C>G (p.Leu101Val) single nucleotide variant Inborn genetic diseases [RCV002940936] Chr5:141364631 [GRCh38]
Chr5:140744198 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.1499C>T (p.Ala500Val) single nucleotide variant Inborn genetic diseases [RCV002939913] Chr5:141356606 [GRCh38]
Chr5:140736173 [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_018917.4(PCDHGA4):c.914A>G (p.Asn305Ser) single nucleotide variant Inborn genetic diseases [RCV002813423] Chr5:141356021 [GRCh38]
Chr5:140735588 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.2150G>A (p.Arg717Gln) single nucleotide variant Inborn genetic diseases [RCV002714747] Chr5:141346183 [GRCh38]
Chr5:140725750 [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_018917.4(PCDHGA4):c.731C>A (p.Thr244Lys) single nucleotide variant Inborn genetic diseases [RCV002748118] Chr5:141355838 [GRCh38]
Chr5:140735405 [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_018923.3(PCDHGB2):c.1163G>A (p.Gly388Glu) single nucleotide variant Inborn genetic diseases [RCV002936992] Chr5:141361298 [GRCh38]
Chr5:140740865 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.698A>G (p.Asn233Ser) single nucleotide variant Inborn genetic diseases [RCV002702566] Chr5:141350958 [GRCh38]
Chr5:140730525 [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.2089A>C (p.Ile697Leu) single nucleotide variant Inborn genetic diseases [RCV002669504] Chr5:141389973 [GRCh38]
Chr5:140769540 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.871A>G (p.Asn291Asp) single nucleotide variant Inborn genetic diseases [RCV002878556] Chr5:141351131 [GRCh38]
Chr5:140730698 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.1552C>T (p.Arg518Cys) single nucleotide variant Inborn genetic diseases [RCV002897771] Chr5:141340523 [GRCh38]
Chr5:140720090 [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_018917.4(PCDHGA4):c.1346A>G (p.Tyr449Cys) single nucleotide variant Inborn genetic diseases [RCV002668895] Chr5:141356453 [GRCh38]
Chr5:140736020 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.1771G>A (p.Val591Met) single nucleotide variant Inborn genetic diseases [RCV002935491] Chr5:141366101 [GRCh38]
Chr5:140745668 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.2128C>A (p.Arg710Ser) single nucleotide variant Inborn genetic diseases [RCV002668698] Chr5:141352388 [GRCh38]
Chr5:140731955 [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_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_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_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_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_018922.3(PCDHGB1):c.238G>T (p.Asp80Tyr) single nucleotide variant Inborn genetic diseases [RCV002878862] Chr5:141350498 [GRCh38]
Chr5:140730065 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.962C>T (p.Ala321Val) single nucleotide variant Inborn genetic diseases [RCV002668913] Chr5:141344995 [GRCh38]
Chr5:140724562 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.1235G>A (p.Arg412Lys) single nucleotide variant Inborn genetic diseases [RCV002896295] Chr5:141365565 [GRCh38]
Chr5:140745132 [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_018923.3(PCDHGB2):c.1843G>C (p.Gly615Arg) single nucleotide variant Inborn genetic diseases [RCV002920239] Chr5:141361978 [GRCh38]
Chr5:140741545 [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_018915.4(PCDHGA2):c.1901A>C (p.Asp634Ala) single nucleotide variant Inborn genetic diseases [RCV002855600] Chr5:141340872 [GRCh38]
Chr5:140720439 [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_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_018918.3(PCDHGA5):c.2045T>C (p.Ile682Thr) single nucleotide variant Inborn genetic diseases [RCV002769765] Chr5:141366375 [GRCh38]
Chr5:140745942 [GRCh37]
Chr5:5q31.3
likely benign
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_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_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_018912.3(PCDHGA1):c.2317C>T (p.Pro773Ser) single nucleotide variant Inborn genetic diseases [RCV002719731] Chr5:141333001 [GRCh38]
Chr5:140712568 [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_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_018923.3(PCDHGB2):c.1646G>A (p.Arg549His) single nucleotide variant Inborn genetic diseases [RCV002935504] Chr5:141361781 [GRCh38]
Chr5:140741348 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.2107G>A (p.Val703Ile) single nucleotide variant Inborn genetic diseases [RCV002936642] Chr5:141366437 [GRCh38]
Chr5:140746004 [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_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_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_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_018916.4(PCDHGA3):c.220C>G (p.Leu74Val) single nucleotide variant Inborn genetic diseases [RCV002809344] Chr5:141344253 [GRCh38]
Chr5:140723820 [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_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_018917.4(PCDHGA4):c.1309A>T (p.Thr437Ser) single nucleotide variant Inborn genetic diseases [RCV002809418] Chr5:141356416 [GRCh38]
Chr5:140735983 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.1448A>G (p.Asp483Gly) single nucleotide variant Inborn genetic diseases [RCV002718946] Chr5:141365778 [GRCh38]
Chr5:140745345 [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_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_018923.3(PCDHGB2):c.1339G>A (p.Asp447Asn) single nucleotide variant Inborn genetic diseases [RCV002672450] Chr5:141361474 [GRCh38]
Chr5:140741041 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.461T>C (p.Ile154Thr) single nucleotide variant Inborn genetic diseases [RCV002855181] Chr5:141355568 [GRCh38]
Chr5:140735135 [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_018916.4(PCDHGA3):c.1316C>A (p.Thr439Asn) single nucleotide variant Inborn genetic diseases [RCV002748056] Chr5:141345349 [GRCh38]
Chr5:140724916 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.901G>A (p.Asp301Asn) single nucleotide variant Inborn genetic diseases [RCV002879185] Chr5:141356008 [GRCh38]
Chr5:140735575 [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_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_018912.3(PCDHGA1):c.512A>T (p.Gln171Leu) single nucleotide variant Inborn genetic diseases [RCV002669502] Chr5:141331196 [GRCh38]
Chr5:140710763 [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_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_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_018922.3(PCDHGB1):c.130C>G (p.Arg44Gly) single nucleotide variant Inborn genetic diseases [RCV002960547] Chr5:141350390 [GRCh38]
Chr5:140729957 [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_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_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.1804G>C (p.Ala602Pro) single nucleotide variant Inborn genetic diseases [RCV002941407] Chr5:141384703 [GRCh38]
Chr5:140764270 [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_018923.3(PCDHGB2):c.749C>T (p.Thr250Ile) single nucleotide variant Inborn genetic diseases [RCV002792921] Chr5:141360884 [GRCh38]
Chr5:140740451 [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_018917.4(PCDHGA4):c.1469C>T (p.Ala490Val) single nucleotide variant Inborn genetic diseases [RCV002674206] Chr5:141356576 [GRCh38]
Chr5:140736143 [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_018923.3(PCDHGB2):c.437C>G (p.Thr146Ser) single nucleotide variant Inborn genetic diseases [RCV002702518] Chr5:141360572 [GRCh38]
Chr5:140740139 [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_018918.3(PCDHGA5):c.728C>A (p.Thr243Asn) single nucleotide variant Inborn genetic diseases [RCV002723315] Chr5:141365058 [GRCh38]
Chr5:140744625 [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_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_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_018912.3(PCDHGA1):c.2263C>T (p.His755Tyr) single nucleotide variant Inborn genetic diseases [RCV002677148] Chr5:141332947 [GRCh38]
Chr5:140712514 [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_018917.4(PCDHGA4):c.277C>G (p.Arg93Gly) single nucleotide variant Inborn genetic diseases [RCV002678872] Chr5:141355384 [GRCh38]
Chr5:140734951 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.1183G>C (p.Glu395Gln) single nucleotide variant Inborn genetic diseases [RCV002655378] Chr5:141365513 [GRCh38]
Chr5:140745080 [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_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_018918.3(PCDHGA5):c.997G>C (p.Val333Leu) single nucleotide variant Inborn genetic diseases [RCV002724333] Chr5:141365327 [GRCh38]
Chr5:140744894 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.1203C>A (p.Asn401Lys) single nucleotide variant Inborn genetic diseases [RCV002652600] Chr5:141356310 [GRCh38]
Chr5:140735877 [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.1657G>C (p.Val553Leu) single nucleotide variant Inborn genetic diseases [RCV002656012] Chr5:141422884 [GRCh38]
Chr5:140802451 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.433C>A (p.Pro145Thr) single nucleotide variant Inborn genetic diseases [RCV002657074] Chr5:141350693 [GRCh38]
Chr5:140730260 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.189A>C (p.Lys63Asn) single nucleotide variant Inborn genetic diseases [RCV002724254] Chr5:141350449 [GRCh38]
Chr5:140730016 [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_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_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_018922.3(PCDHGB1):c.322G>A (p.Glu108Lys) single nucleotide variant Inborn genetic diseases [RCV002655173] Chr5:141350582 [GRCh38]
Chr5:140730149 [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_018912.3(PCDHGA1):c.1739T>G (p.Leu580Arg) single nucleotide variant Inborn genetic diseases [RCV002655968] Chr5:141332423 [GRCh38]
Chr5:140711990 [GRCh37]
Chr5:5q31.3
likely benign
NM_018915.4(PCDHGA2):c.1360C>T (p.Arg454Cys) single nucleotide variant Inborn genetic diseases [RCV002723610] Chr5:141340331 [GRCh38]
Chr5:140719898 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.1249A>G (p.Ile417Val) single nucleotide variant Inborn genetic diseases [RCV003277499] Chr5:141356356 [GRCh38]
Chr5:140735923 [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_018915.4(PCDHGA2):c.16A>C (p.Lys6Gln) single nucleotide variant Inborn genetic diseases [RCV003297443] Chr5:141338987 [GRCh38]
Chr5:140718554 [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_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_018922.3(PCDHGB1):c.1696G>T (p.Asp566Tyr) single nucleotide variant Inborn genetic diseases [RCV003280785] Chr5:141351956 [GRCh38]
Chr5:140731523 [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_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_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_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_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_018916.4(PCDHGA3):c.245G>A (p.Gly82Asp) single nucleotide variant Inborn genetic diseases [RCV003195902] Chr5:141344278 [GRCh38]
Chr5:140723845 [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_018915.4(PCDHGA2):c.1228C>T (p.Leu410Phe) single nucleotide variant Inborn genetic diseases [RCV003203404] Chr5:141340199 [GRCh38]
Chr5:140719766 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.259G>C (p.Ala87Pro) single nucleotide variant Inborn genetic diseases [RCV003215526] Chr5:141344292 [GRCh38]
Chr5:140723859 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.346A>C (p.Ile116Leu) single nucleotide variant Inborn genetic diseases [RCV003220537] Chr5:141344379 [GRCh38]
Chr5:140723946 [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_018915.4(PCDHGA2):c.1895T>G (p.Leu632Arg) single nucleotide variant Inborn genetic diseases [RCV003185214] Chr5:141340866 [GRCh38]
Chr5:140720433 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.1749A>T (p.Glu583Asp) single nucleotide variant Inborn genetic diseases [RCV003188846] Chr5:141366079 [GRCh38]
Chr5:140745646 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.1183A>G (p.Thr395Ala) single nucleotide variant Inborn genetic diseases [RCV003218789] Chr5:141356290 [GRCh38]
Chr5:140735857 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.878A>T (p.His293Leu) single nucleotide variant Inborn genetic diseases [RCV003196933] Chr5:141344911 [GRCh38]
Chr5:140724478 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018912.3(PCDHGA1):c.1208G>A (p.Arg403His) single nucleotide variant Inborn genetic diseases [RCV003173305] Chr5:141331892 [GRCh38]
Chr5:140711459 [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_018916.4(PCDHGA3):c.410A>G (p.Glu137Gly) single nucleotide variant Inborn genetic diseases [RCV003205601] Chr5:141344443 [GRCh38]
Chr5:140724010 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.2044G>A (p.Ala682Thr) single nucleotide variant Inborn genetic diseases [RCV003173474] Chr5:141341015 [GRCh38]
Chr5:140720582 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018912.3(PCDHGA1):c.1637T>A (p.Val546Glu) single nucleotide variant Inborn genetic diseases [RCV003194012] Chr5:141332321 [GRCh38]
Chr5:140711888 [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_018917.4(PCDHGA4):c.343T>G (p.Leu115Val) single nucleotide variant Inborn genetic diseases [RCV003216799] Chr5:141355450 [GRCh38]
Chr5:140735017 [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_018915.4(PCDHGA2):c.2011A>C (p.Ile671Leu) single nucleotide variant Inborn genetic diseases [RCV003194865] Chr5:141340982 [GRCh38]
Chr5:140720549 [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_018916.4(PCDHGA3):c.205A>G (p.Arg69Gly) single nucleotide variant Inborn genetic diseases [RCV003203909] Chr5:141344238 [GRCh38]
Chr5:140723805 [GRCh37]
Chr5:5q31.3
uncertain significance
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_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_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_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_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_018915.4(PCDHGA2):c.1024G>A (p.Asp342Asn) single nucleotide variant Inborn genetic diseases [RCV003202548] Chr5:141339995 [GRCh38]
Chr5:140719562 [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_018922.3(PCDHGB1):c.1567G>T (p.Ala523Ser) single nucleotide variant Inborn genetic diseases [RCV003173235] Chr5:141351827 [GRCh38]
Chr5:140731394 [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_018922.3(PCDHGB1):c.115C>G (p.Leu39Val) single nucleotide variant Inborn genetic diseases [RCV003188355] Chr5:141350375 [GRCh38]
Chr5:140729942 [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_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_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_018916.4(PCDHGA3):c.73G>A (p.Glu25Lys) single nucleotide variant Inborn genetic diseases [RCV003196203] Chr5:141344106 [GRCh38]
Chr5:140723673 [GRCh37]
Chr5:5q31.3
likely benign
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_018917.4(PCDHGA4):c.1076G>A (p.Arg359Gln) single nucleotide variant Inborn genetic diseases [RCV003190699] Chr5:141356183 [GRCh38]
Chr5:140735750 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.1636G>A (p.Val546Ile) single nucleotide variant Inborn genetic diseases [RCV003194960] Chr5:141340607 [GRCh38]
Chr5:140720174 [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_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_018923.3(PCDHGB2):c.1283G>A (p.Gly428Asp) single nucleotide variant Inborn genetic diseases [RCV003219887] Chr5:141361418 [GRCh38]
Chr5:140740985 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.2350A>T (p.Ser784Cys) single nucleotide variant Inborn genetic diseases [RCV003174209] Chr5:141366680 [GRCh38]
Chr5:140746247 [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_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_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_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_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_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_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_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_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_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.1036G>A (p.Glu346Lys) single nucleotide variant Inborn genetic diseases [RCV003203956] Chr5:141431795 [GRCh38]
Chr5:140811362 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.2462C>T (p.Pro821Leu) single nucleotide variant Inborn genetic diseases [RCV003175355] Chr5:141357569 [GRCh38]
Chr5:140737136 [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_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_018918.3(PCDHGA5):c.733T>C (p.Ser245Pro) single nucleotide variant Inborn genetic diseases [RCV003260685] Chr5:141365063 [GRCh38]
Chr5:140744630 [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_018922.3(PCDHGB1):c.1955C>T (p.Ala652Val) single nucleotide variant Inborn genetic diseases [RCV003208610] Chr5:141352215 [GRCh38]
Chr5:140731782 [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_018912.3(PCDHGA1):c.507C>G (p.Ser169Arg) single nucleotide variant Inborn genetic diseases [RCV003282269] Chr5:141331191 [GRCh38]
Chr5:140710758 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.296C>T (p.Ser99Phe) single nucleotide variant Inborn genetic diseases [RCV003205774] Chr5:141355403 [GRCh38]
Chr5:140734970 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.427G>T (p.Ala143Ser) single nucleotide variant Inborn genetic diseases [RCV003188353] Chr5:141350687 [GRCh38]
Chr5:140730254 [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_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_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_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_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_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_018918.3(PCDHGA5):c.2273C>G (p.Ser758Cys) single nucleotide variant Inborn genetic diseases [RCV003193170] Chr5:141366603 [GRCh38]
Chr5:140746170 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018923.3(PCDHGB2):c.2386G>T (p.Ala796Ser) single nucleotide variant Inborn genetic diseases [RCV003196321] Chr5:141362521 [GRCh38]
Chr5:140742088 [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_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_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_018922.3(PCDHGB1):c.2177G>A (p.Gly726Asp) single nucleotide variant Inborn genetic diseases [RCV003215770] Chr5:141352437 [GRCh38]
Chr5:140732004 [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_018918.3(PCDHGA5):c.1447G>A (p.Asp483Asn) single nucleotide variant Inborn genetic diseases [RCV003220957] Chr5:141365777 [GRCh38]
Chr5:140745344 [GRCh37]
Chr5:5q31.3
likely benign
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_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_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_018916.4(PCDHGA3):c.2365G>C (p.Glu789Gln) single nucleotide variant Inborn genetic diseases [RCV003206561] Chr5:141346398 [GRCh38]
Chr5:140725965 [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_018912.3(PCDHGA1):c.968A>G (p.Asp323Gly) single nucleotide variant Inborn genetic diseases [RCV003194347] Chr5:141331652 [GRCh38]
Chr5:140711219 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.2399T>C (p.Leu800Ser) single nucleotide variant Inborn genetic diseases [RCV003172802] Chr5:141352659 [GRCh38]
Chr5:140732226 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018912.3(PCDHGA1):c.1480G>A (p.Asp494Asn) single nucleotide variant Inborn genetic diseases [RCV003198526] Chr5:141332164 [GRCh38]
Chr5:140711731 [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_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_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_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_018916.4(PCDHGA3):c.1252T>C (p.Tyr418His) single nucleotide variant Inborn genetic diseases [RCV003219589] Chr5:141345285 [GRCh38]
Chr5:140724852 [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_018923.3(PCDHGB2):c.1703G>T (p.Gly568Val) single nucleotide variant Inborn genetic diseases [RCV003192183] Chr5:141361838 [GRCh38]
Chr5:140741405 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.1805C>T (p.Ala602Val) single nucleotide variant Inborn genetic diseases [RCV003262091] Chr5:141340776 [GRCh38]
Chr5:140720343 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018912.3(PCDHGA1):c.2227G>A (p.Val743Met) single nucleotide variant Inborn genetic diseases [RCV003262240] Chr5:141332911 [GRCh38]
Chr5:140712478 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018916.4(PCDHGA3):c.1475C>T (p.Thr492Ile) single nucleotide variant Inborn genetic diseases [RCV003309523] Chr5:141345508 [GRCh38]
Chr5:140725075 [GRCh37]
Chr5:5q31.3
likely benign
NM_018918.3(PCDHGA5):c.274C>G (p.Arg92Gly) single nucleotide variant Inborn genetic diseases [RCV003309626] Chr5:141364604 [GRCh38]
Chr5:140744171 [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_018923.3(PCDHGB2):c.1279G>A (p.Gly427Arg) single nucleotide variant Inborn genetic diseases [RCV003264910] Chr5:141361414 [GRCh38]
Chr5:140740981 [GRCh37]
Chr5:5q31.3
likely benign
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_018922.3(PCDHGB1):c.833T>C (p.Phe278Ser) single nucleotide variant Inborn genetic diseases [RCV003265748] Chr5:141351093 [GRCh38]
Chr5:140730660 [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_018918.3(PCDHGA5):c.187G>A (p.Gly63Arg) single nucleotide variant Inborn genetic diseases [RCV003339313] Chr5:141364517 [GRCh38]
Chr5:140744084 [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.1571C>A (p.Pro524His) single nucleotide variant Inborn genetic diseases [RCV003359110] Chr5:141477687 [GRCh38]
Chr5:140857254 [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_018912.3(PCDHGA1):c.335A>T (p.Asp112Val) single nucleotide variant Inborn genetic diseases [RCV003379301] Chr5:141331019 [GRCh38]
Chr5:140710586 [GRCh37]
Chr5:5q31.3
uncertain significance
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_018918.3(PCDHGA5):c.283C>G (p.Leu95Val) single nucleotide variant Inborn genetic diseases [RCV003378955] Chr5:141364613 [GRCh38]
Chr5:140744180 [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_018922.3(PCDHGB1):c.1246G>A (p.Val416Ile) single nucleotide variant Inborn genetic diseases [RCV003342970] Chr5:141351506 [GRCh38]
Chr5:140731073 [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_018923.3(PCDHGB2):c.1612G>A (p.Gly538Ser) single nucleotide variant Inborn genetic diseases [RCV003343531] Chr5:141361747 [GRCh38]
Chr5:140741314 [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_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_018923.3(PCDHGB2):c.1063C>A (p.Pro355Thr) single nucleotide variant Inborn genetic diseases [RCV003359845] Chr5:141361198 [GRCh38]
Chr5:140740765 [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_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_018923.3(PCDHGB2):c.958G>C (p.Glu320Gln) single nucleotide variant Inborn genetic diseases [RCV003360419] Chr5:141361093 [GRCh38]
Chr5:140740660 [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_018923.3(PCDHGB2):c.1909G>C (p.Ala637Pro) single nucleotide variant Inborn genetic diseases [RCV003354363] Chr5:141362044 [GRCh38]
Chr5:140741611 [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.1739G>A (p.Arg580His) single nucleotide variant Inborn genetic diseases [RCV003349658] Chr5:141394552 [GRCh38]
Chr5:140774119 [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_018912.3(PCDHGA1):c.1421T>C (p.Val474Ala) single nucleotide variant Inborn genetic diseases [RCV003354968] Chr5:141332105 [GRCh38]
Chr5:140711672 [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_018915.4(PCDHGA2):c.1138G>A (p.Ala380Thr) single nucleotide variant Inborn genetic diseases [RCV003352544] Chr5:141340109 [GRCh38]
Chr5:140719676 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.2188A>G (p.Ser730Gly) single nucleotide variant Inborn genetic diseases [RCV003378035] Chr5:141366518 [GRCh38]
Chr5:140746085 [GRCh37]
Chr5:5q31.3
likely benign
NM_018916.4(PCDHGA3):c.1876G>A (p.Val626Met) single nucleotide variant Inborn genetic diseases [RCV003383888] Chr5:141345909 [GRCh38]
Chr5:140725476 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.2008G>A (p.Asp670Asn) single nucleotide variant Inborn genetic diseases [RCV003351280] Chr5:141340979 [GRCh38]
Chr5:140720546 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.2368C>G (p.Leu790Val) single nucleotide variant Inborn genetic diseases [RCV003367603] Chr5:141357475 [GRCh38]
Chr5:140737042 [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_018912.3(PCDHGA1):c.1627A>G (p.Ser543Gly) single nucleotide variant Inborn genetic diseases [RCV003350048] Chr5:141332311 [GRCh38]
Chr5:140711878 [GRCh37]
Chr5:5q31.3
uncertain significance
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_018923.3(PCDHGB2):c.911A>T (p.Lys304Met) single nucleotide variant Inborn genetic diseases [RCV003365163] Chr5:141361046 [GRCh38]
Chr5:140740613 [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_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_018912.3(PCDHGA1):c.857A>T (p.His286Leu) single nucleotide variant Inborn genetic diseases [RCV003347120] Chr5:141331541 [GRCh38]
Chr5:140711108 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018918.3(PCDHGA5):c.1333G>C (p.Val445Leu) single nucleotide variant Inborn genetic diseases [RCV003346841] Chr5:141365663 [GRCh38]
Chr5:140745230 [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_018915.4(PCDHGA2):c.2389C>G (p.Leu797Val) single nucleotide variant Inborn genetic diseases [RCV003361795] Chr5:141341360 [GRCh38]
Chr5:140720927 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018922.3(PCDHGB1):c.934G>A (p.Val312Met) single nucleotide variant Inborn genetic diseases [RCV003362451] Chr5:141351194 [GRCh38]
Chr5:140730761 [GRCh37]
Chr5:5q31.3
likely benign
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_018916.4(PCDHGA3):c.1253A>G (p.Tyr418Cys) single nucleotide variant Inborn genetic diseases [RCV003350574] Chr5:141345286 [GRCh38]
Chr5:140724853 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.572C>A (p.Pro191Gln) single nucleotide variant Inborn genetic diseases [RCV003370324] Chr5:141355679 [GRCh38]
Chr5:140735246 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.1138G>T (p.Ala380Ser) single nucleotide variant Inborn genetic diseases [RCV003386050] Chr5:141340109 [GRCh38]
Chr5:140719676 [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.2282C>A (p.Ala761Glu) single nucleotide variant Inborn genetic diseases [RCV003368712] Chr5:141385181 [GRCh38]
Chr5:140764748 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018915.4(PCDHGA2):c.1511A>T (p.Tyr504Phe) single nucleotide variant Inborn genetic diseases [RCV003356360] Chr5:141340482 [GRCh38]
Chr5:140720049 [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_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_018915.4(PCDHGA2):c.1430A>G (p.His477Arg) single nucleotide variant Inborn genetic diseases [RCV003366123] Chr5:141340401 [GRCh38]
Chr5:140719968 [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_018922.3(PCDHGB1):c.766A>G (p.Thr256Ala) single nucleotide variant Inborn genetic diseases [RCV003354936] Chr5:141351026 [GRCh38]
Chr5:140730593 [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_018917.4(PCDHGA4):c.2290G>T (p.Ala764Ser) single nucleotide variant Inborn genetic diseases [RCV003386883] Chr5:141357397 [GRCh38]
Chr5:140736964 [GRCh37]
Chr5:5q31.3
uncertain significance
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.1781C>T (p.Ser594Leu) single nucleotide variant not provided [RCV003429848] Chr5:141399908 [GRCh38]
Chr5:140779475 [GRCh37]
Chr5:5q31.3
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_018915.4(PCDHGA2):c.1936A>G (p.Ile646Val) single nucleotide variant not provided [RCV003428647] Chr5:141340907 [GRCh38]
Chr5:140720474 [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.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_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_018915.4(PCDHGA2):c.1737C>T (p.Pro579=) single nucleotide variant not provided [RCV003428645] Chr5:141340708 [GRCh38]
Chr5:140720275 [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_018917.4(PCDHGA4):c.409C>T (p.Leu137=) single nucleotide variant not provided [RCV003429841] Chr5:141355516 [GRCh38]
Chr5:140735083 [GRCh37]
Chr5:5q31.3
likely benign
NM_018923.3(PCDHGB2):c.319G>A (p.Asp107Asn) single nucleotide variant not provided [RCV003429842] Chr5:141360454 [GRCh38]
Chr5:140740021 [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_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_018922.3(PCDHGB1):c.1232C>A (p.Thr411Lys) single nucleotide variant not provided [RCV003429840] Chr5:141351492 [GRCh38]
Chr5:140731059 [GRCh37]
Chr5:5q31.3
likely benign
NM_018918.3(PCDHGA5):c.1776A>G (p.Val592=) single nucleotide variant not provided [RCV003429843] Chr5:141366106 [GRCh38]
Chr5:140745673 [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_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_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_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_018922.3(PCDHGB1):c.1222C>A (p.Arg408=) single nucleotide variant not provided [RCV003428649] Chr5:141351482 [GRCh38]
Chr5:140731049 [GRCh37]
Chr5:5q31.3
likely benign
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_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_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_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_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_018915.4(PCDHGA2):c.1783G>A (p.Asp595Asn) single nucleotide variant not provided [RCV003428646] Chr5:141340754 [GRCh38]
Chr5:140720321 [GRCh37]
Chr5:5q31.3
likely benign
NM_018916.4(PCDHGA3):c.1143G>A (p.Gln381=) single nucleotide variant not provided [RCV003428648] Chr5:141345176 [GRCh38]
Chr5:140724743 [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_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_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_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_018912.3(PCDHGA1):c.991G>A (p.Val331Ile) single nucleotide variant Inborn genetic diseases [RCV003341405] Chr5:141331675 [GRCh38]
Chr5:140711242 [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
NM_018922.3(PCDHGB1):c.1727G>T (p.Arg576Leu) single nucleotide variant Inborn genetic diseases [RCV003342769] Chr5:141351987 [GRCh38]
Chr5:140731554 [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_018917.4(PCDHGA4):c.745G>C (p.Gly249Arg) single nucleotide variant Inborn genetic diseases [RCV003361249] Chr5:141355852 [GRCh38]
Chr5:140735419 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018917.4(PCDHGA4):c.364G>C (p.Asp122His) single nucleotide variant Inborn genetic diseases [RCV003344766] Chr5:141355471 [GRCh38]
Chr5:140735038 [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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1203
Count of miRNA genes:673
Interacting mature miRNAs:791
Transcripts:ENST00000378105, ENST00000517417
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
SHGC-83354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,728,207 - 140,728,513UniSTSGRCh37
Build 365140,708,391 - 140,708,697RGDNCBI36
Celera5136,805,032 - 136,805,338RGD
Cytogenetic Map5q31UniSTS
HuRef5135,873,282 - 135,873,588UniSTS
TNG Radiation Hybrid Map565207.0UniSTS
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_22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,726,366 - 140,726,815UniSTSGRCh37
Build 365140,706,550 - 140,706,999RGDNCBI36
Celera5136,803,191 - 136,803,640RGD
Cytogenetic Map5q31UniSTS
HuRef5135,871,437 - 135,871,890UniSTS
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
PCDHGA3_1505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,725,242 - 140,726,138UniSTSGRCh37
Build 365140,705,426 - 140,706,322RGDNCBI36
Celera5136,802,067 - 136,802,963RGD
HuRef5135,870,313 - 135,871,209UniSTS
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
PCDHGA2_2016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,720,348 - 140,721,099UniSTSGRCh37
Build 365140,700,532 - 140,701,283RGDNCBI36
Celera5136,797,174 - 136,797,925RGD
HuRef5135,865,420 - 135,866,171UniSTS
PCDHGA4_2560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,736,551 - 140,737,415UniSTSGRCh37
Build 365140,716,735 - 140,717,599RGDNCBI36
Celera5136,813,376 - 136,814,240RGD
HuRef5135,881,626 - 135,882,490UniSTS
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
PCDHGB1__2554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,731,812 - 140,732,459UniSTSGRCh37
Build 365140,711,996 - 140,712,643RGDNCBI36
Celera5136,808,637 - 136,809,284RGD
HuRef5135,876,887 - 135,877,534UniSTS
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
D11S2062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,732,048 - 140,732,247UniSTSGRCh37
Build 365140,712,232 - 140,712,431RGDNCBI36
Celera5136,808,873 - 136,809,072RGD
Cytogenetic Map5q31UniSTS
HuRef5135,877,123 - 135,877,322UniSTS
Whitehead-YAC Contig Map5 UniSTS
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1 1 1 6 2 4
Low 1334 1843 595 55 177 36 1788 1397 2338 136 1027 725 28 1 214 1536 4 1
Below cutoff 1076 688 999 442 1073 303 2547 789 1390 248 401 861 145 989 1252 2

Sequence


RefSeq Acc Id: ENST00000378105   ⟹   ENSP00000367345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,330,571 - 141,334,639 (+)Ensembl
RefSeq Acc Id: ENST00000517417   ⟹   ENSP00000431083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,330,514 - 141,512,975 (+)Ensembl
RefSeq Acc Id: NM_018912   ⟹   NP_061735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,330,514 - 141,512,975 (+)NCBI
GRCh375140,709,388 - 140,892,546 (+)NCBI
Build 365140,690,436 - 140,872,730 (+)NCBI Archive
Celera5136,787,078 - 136,969,282 (+)RGD
HuRef5135,855,319 - 136,037,386 (+)ENTREZGENE
CHM1_15140,143,455 - 140,325,823 (+)NCBI
T2T-CHM13v2.05141,855,819 - 142,038,959 (+)NCBI
Sequence:
RefSeq Acc Id: NM_031993   ⟹   NP_114382
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,330,514 - 141,334,639 (+)NCBI
GRCh375140,709,388 - 140,892,546 (+)NCBI
Build 365140,690,436 - 140,692,907 (+)NCBI Archive
Celera5136,787,078 - 136,969,282 (+)RGD
HuRef5135,855,319 - 136,037,386 (+)ENTREZGENE
CHM1_15140,143,455 - 140,145,926 (+)NCBI
T2T-CHM13v2.05141,855,819 - 141,860,285 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061735   ⟸   NM_018912
- Peptide Label: isoform 1 precursor
- UniProtKB: Q2M273 (UniProtKB/Swiss-Prot),   Q9Y5D6 (UniProtKB/Swiss-Prot),   Q9Y5H4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_114382   ⟸   NM_031993
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9Y5H4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000431083   ⟸   ENST00000517417
RefSeq Acc Id: ENSP00000367345   ⟸   ENST00000378105
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5H4-F1-model_v2 AlphaFold Q9Y5H4 1-931 view protein structure

Promoters
RGD ID:6870940
Promoter ID:EPDNEW_H8634
Type:initiation region
Name:PCDHGA1_1
Description:protocadherin gamma subfamily A, 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8635  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,330,522 - 141,330,582EPDNEW
RGD ID:6870942
Promoter ID:EPDNEW_H8635
Type:multiple initiation site
Name:PCDHGA1_2
Description:protocadherin gamma subfamily A, 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8634  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,330,779 - 141,330,839EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8696 AgrOrtholog
COSMIC PCDHGA1 COSMIC
Ensembl Genes ENSG00000204956 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378105 ENTREZGENE
  ENST00000378105.4 UniProtKB/Swiss-Prot
  ENST00000517417 ENTREZGENE
  ENST00000517417.3 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot
GTEx ENSG00000204956 GTEx
HGNC ID HGNC:8696 ENTREZGENE
Human Proteome Map PCDHGA1 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:56114 UniProtKB/Swiss-Prot
NCBI Gene 56114 ENTREZGENE
OMIM 606288 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot
  PTHR24028:SF108 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 PA33044 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 PCDG1_HUMAN UniProtKB/Swiss-Prot
  Q2M273 ENTREZGENE
  Q9Y5D6 ENTREZGENE
  Q9Y5H4 ENTREZGENE
UniProt Secondary Q2M273 UniProtKB/Swiss-Prot
  Q9Y5D6 UniProtKB/Swiss-Prot