PCDHGA6 (protocadherin gamma subfamily A, 6) - Rat Genome Database

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Gene: PCDHGA6 (protocadherin gamma subfamily A, 6) Homo sapiens
Analyze
Symbol: PCDHGA6
Name: protocadherin gamma subfamily A, 6
RGD ID: 1343927
HGNC Page HGNC:8704
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PCDH-GAMMA-A6; protocadherin gamma-A6
RGD Orthologs
Mouse
Rat
Dog
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
GRCh385141,373,891 - 141,512,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,373,891 - 141,512,975 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,753,458 - 140,892,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,733,835 - 140,872,730 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,733,834 - 140,736,291NCBI
Celera5136,830,476 - 136,969,282 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,898,726 - 136,037,386 (+)NCBIHuRef
CHM1_15140,186,858 - 140,325,823 (+)NCBICHM1_1
T2T-CHM13v2.05141,899,519 - 142,038,959 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10380929   PMID:10716726   PMID:10817752   PMID:10835267   PMID:11230163   PMID:12477932   PMID:21873635   PMID:22944692   PMID:23686814   PMID:31796584   PMID:33961781  


Genomics

Comparative Map Data
PCDHGA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,373,891 - 141,512,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,373,891 - 141,512,975 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,753,458 - 140,892,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,733,835 - 140,872,730 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,733,834 - 140,736,291NCBI
Celera5136,830,476 - 136,969,282 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,898,726 - 136,037,386 (+)NCBIHuRef
CHM1_15140,186,858 - 140,325,823 (+)NCBICHM1_1
T2T-CHM13v2.05141,899,519 - 142,038,959 (+)NCBIT2T-CHM13v2.0
Pcdhga6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,840,154 - 37,974,923 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,840,092 - 37,974,926 (+)EnsemblGRCm39 Ensembl
GRCm381837,707,101 - 37,841,870 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1837,707,039 - 37,841,873 (+)EnsemblGRCm38mm10GRCm38
MGSCv371837,866,883 - 38,001,524 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,833,203 - 37,967,844 (+)NCBIMGSCv36mm8
Celera1839,040,298 - 39,185,349 (+)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1819.57NCBI
Pcdhga6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01830,855,236 - 30,863,958 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1830,856,847 - 30,859,261 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01830,549,451 - 30,553,696 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Cytogenetic Map18p11NCBI
LOC100685940
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1236,350,982 - 36,355,644 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha233,402,603 - 33,408,669 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0236,804,436 - 36,810,529 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1233,879,352 - 33,885,418 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0234,690,344 - 34,696,407 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0235,498,042 - 35,504,107 (+)NCBIUU_Cfam_GSD_1.0

Variants

.
Variants in PCDHGA6
467 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_003735.2(PCDHGA12):c.1619C>T (p.Pro540Leu) single nucleotide variant Malignant melanoma [RCV000061164] Chr5:141432378 [GRCh38]
Chr5:140811945 [GRCh37]
Chr5:140792129 [NCBI36]
Chr5:5q31.3
not provided
NM_032402.1(PCDHGC3):c.1630A>C (p.Thr544Pro) single nucleotide variant Malignant melanoma [RCV000061165] Chr5:141477746 [GRCh38]
Chr5:140857313 [GRCh37]
Chr5:140837497 [NCBI36]
Chr5:5q31.3
not provided
NM_032097.2(PCDHGB3):c.1245C>T (p.Ile415=) single nucleotide variant Malignant melanoma [RCV000066744] Chr5:141371639 [GRCh38]
Chr5:140751206 [GRCh37]
Chr5:140731390 [NCBI36]
Chr5:5q31.3
not provided
NM_018913.2(PCDHGA10):c.1863C>T (p.Phe621=) single nucleotide variant Malignant melanoma [RCV000066748] Chr5:141415038 [GRCh38]
Chr5:140794605 [GRCh37]
Chr5:140774789 [NCBI36]
Chr5:5q31.3
not provided
NM_018929.2(PCDHGC5):c.2080C>T (p.Leu694Phe) single nucleotide variant Malignant melanoma [RCV000066749] Chr5:141491320 [GRCh38]
Chr5:140870887 [GRCh37]
Chr5:140851071 [NCBI36]
Chr5:5q31.3
not provided
NM_032097.2(PCDHGB3):c.1708G>A (p.Glu570Lys) single nucleotide variant Malignant melanoma [RCV000066745] Chr5:141372102 [GRCh38]
Chr5:140751669 [GRCh37]
Chr5:140731853 [NCBI36]
Chr5:5q31.3
not provided
NM_014004.2(PCDHGA8):c.2079C>T (p.Leu693=) single nucleotide variant Malignant melanoma [RCV000066746] Chr5:141394892 [GRCh38]
Chr5:140774459 [GRCh37]
Chr5:140754643 [NCBI36]
Chr5:5q31.3
not provided
NM_018928.3(PCDHGC4):c.462G>A (p.Leu154=) single nucleotide variant not provided [RCV000122561] Chr5:141485635 [GRCh38]
Chr5:140865202 [GRCh37]
Chr5:5q31.3
uncertain significance
GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1 copy number loss See cases [RCV000136949] Chr5:140963199..142322798 [GRCh38]
Chr5:140453735..141702363 [GRCh37]
Chr5:140322968..141682547 [NCBI36]
Chr5:5q31.3
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3 copy number gain See cases [RCV000139504] Chr5:141089988..149530678 [GRCh38]
Chr5:140469572..148910241 [GRCh37]
Chr5:140449756..148890434 [NCBI36]
Chr5:5q31.3-32
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_003735.3(PCDHGA12):c.1448A>G (p.Glu483Gly) single nucleotide variant Inborn genetic diseases [RCV003268387] Chr5:141432207 [GRCh38]
Chr5:140811774 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.262G>A (p.Asp88Asn) single nucleotide variant Inborn genetic diseases [RCV003266765] Chr5:141418121 [GRCh38]
Chr5:140797688 [GRCh37]
Chr5:5q31.3
uncertain significance
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_018929.3(PCDHGC5):c.1610G>A (p.Arg537Gln) single nucleotide variant Inborn genetic diseases [RCV003296480] Chr5:141490850 [GRCh38]
Chr5:140870417 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1357G>C (p.Asp453His) single nucleotide variant Inborn genetic diseases [RCV003258593] Chr5:141409559 [GRCh38]
Chr5:140789126 [GRCh37]
Chr5:5q31.3
likely benign
NM_032088.2(PCDHGA8):c.1696G>T (p.Ala566Ser) single nucleotide variant Inborn genetic diseases [RCV003255197] Chr5:141394509 [GRCh38]
Chr5:140774076 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.2236G>T (p.Ala746Ser) single nucleotide variant Inborn genetic diseases [RCV003259790] Chr5:141478352 [GRCh38]
Chr5:140857919 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1585C>G (p.Gln529Glu) single nucleotide variant Inborn genetic diseases [RCV003251459] Chr5:141432344 [GRCh38]
Chr5:140811911 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.2035G>A (p.Asp679Asn) single nucleotide variant Inborn genetic diseases [RCV003300234] Chr5:141400162 [GRCh38]
Chr5:140779729 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1474G>A (p.Ala492Thr) single nucleotide variant Inborn genetic diseases [RCV003255270] Chr5:141384373 [GRCh38]
Chr5:140763940 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_032088.2(PCDHGA8):c.1840C>T (p.Pro614Ser) single nucleotide variant Inborn genetic diseases [RCV003286797] Chr5:141394653 [GRCh38]
Chr5:140774220 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.955A>G (p.Ile319Val) single nucleotide variant Inborn genetic diseases [RCV003288149] Chr5:141418814 [GRCh38]
Chr5:140798381 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.1904G>A (p.Arg635His) single nucleotide variant Inborn genetic diseases [RCV003265172] Chr5:141400031 [GRCh38]
Chr5:140779598 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1611G>C (p.Gln537His) single nucleotide variant Inborn genetic diseases [RCV003302411] Chr5:141419470 [GRCh38]
Chr5:140799037 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_018914.3(PCDHGA11):c.194T>C (p.Val65Ala) single nucleotide variant Inborn genetic diseases [RCV003287441] Chr5:141421421 [GRCh38]
Chr5:140800988 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1361A>G (p.His454Arg) single nucleotide variant Inborn genetic diseases [RCV003271780] Chr5:141394174 [GRCh38]
Chr5:140773741 [GRCh37]
Chr5:5q31.3
likely benign
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_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_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_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_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_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
GRCh37/hg19 5q31.3(chr5:140676272-140929172)x3 copy number gain See cases [RCV000512526] Chr5:140676272..140929172 [GRCh37]
Chr5:5q31.3
likely benign
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 copy number loss not provided [RCV000682600] Chr5:139147238..141540491 [GRCh37]
Chr5:5q31.2-31.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_018913.3(PCDHGA10):c.651C>T (p.Thr217=) single nucleotide variant not provided [RCV000962128] Chr5:141413826 [GRCh38]
Chr5:140793393 [GRCh37]
Chr5:5q31.3
benign
NM_018925.3(PCDHGB5):c.2092C>T (p.Leu698Phe) single nucleotide variant Inborn genetic diseases [RCV003267426] Chr5:141400219 [GRCh38]
Chr5:140779786 [GRCh37]
Chr5:5q31.3
uncertain significance
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
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_018913.3(PCDHGA10):c.2673C>T (p.His891=) single nucleotide variant not provided [RCV000928114] Chr5:141511035 [GRCh38]
Chr5:140890602 [GRCh37]
Chr5:5q31.3
likely benign
NM_018929.3(PCDHGC5):c.2121C>A (p.Val707=) single nucleotide variant not provided [RCV000903600] Chr5:141491361 [GRCh38]
Chr5:140870928 [GRCh37]
Chr5:5q31.3
benign
NM_018913.3(PCDHGA10):c.2188C>T (p.Gln730Ter) single nucleotide variant not provided [RCV000963848] Chr5:141415363 [GRCh38]
Chr5:140794930 [GRCh37]
Chr5:5q31.3
likely benign
NM_018927.4(PCDHGB7):c.2116G>A (p.Ala706Thr) single nucleotide variant Inborn genetic diseases [RCV003244116] Chr5:141419975 [GRCh38]
Chr5:140799542 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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
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_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_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_018913.3(PCDHGA10):c.251G>T (p.Arg84Leu) single nucleotide variant not provided [RCV000894333] Chr5:141413426 [GRCh38]
Chr5:140792993 [GRCh37]
Chr5:5q31.3
likely benign
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3 copy number gain not provided [RCV000848228] Chr5:140424333..148985999 [GRCh37]
Chr5:5q31.3-32
uncertain significance
NM_003736.4(PCDHGB4):c.962A>G (p.Asp321Gly) single nucleotide variant Inborn genetic diseases [RCV003246314] Chr5:141388846 [GRCh38]
Chr5:140768413 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_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_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_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_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_018925.3(PCDHGB5):c.1022C>T (p.Pro341Leu) single nucleotide variant Inborn genetic diseases [RCV003291471] Chr5:141399149 [GRCh38]
Chr5:140778716 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1312A>T (p.Ile438Phe) single nucleotide variant Inborn genetic diseases [RCV003275237] Chr5:141375395 [GRCh38]
Chr5:140754962 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_018926.3(PCDHGB6):c.199C>A (p.Arg67=) single nucleotide variant not provided [RCV000888699] Chr5:141408401 [GRCh38]
Chr5:140787968 [GRCh37]
Chr5:5q31.3
benign
NM_002588.4(PCDHGC3):c.2178A>G (p.Leu726=) single nucleotide variant not provided [RCV000963442] Chr5:141478294 [GRCh38]
Chr5:140857861 [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_018913.3(PCDHGA10):c.1834C>T (p.Leu612=) single nucleotide variant not provided [RCV000975082] Chr5:141415009 [GRCh38]
Chr5:140794576 [GRCh37]
Chr5:5q31.3
benign
NM_018929.3(PCDHGC5):c.1965A>G (p.Ser655=) single nucleotide variant not provided [RCV000975083] Chr5:141491205 [GRCh38]
Chr5:140870772 [GRCh37]
Chr5:5q31.3
benign
NM_018913.3(PCDHGA10):c.1932A>G (p.Gln644=) single nucleotide variant not provided [RCV000956313] Chr5:141415107 [GRCh38]
Chr5:140794674 [GRCh37]
Chr5:5q31.3
likely benign
NM_018929.3(PCDHGC5):c.1173G>A (p.Pro391=) single nucleotide variant not provided [RCV000956314] Chr5:141490413 [GRCh38]
Chr5:140869980 [GRCh37]
Chr5:5q31.3
benign
NM_018929.3(PCDHGC5):c.1407G>A (p.Pro469=) single nucleotide variant not provided [RCV000956315] Chr5:141490647 [GRCh38]
Chr5:140870214 [GRCh37]
Chr5:5q31.3
benign
NM_018929.3(PCDHGC5):c.2013T>C (p.Pro671=) single nucleotide variant not provided [RCV000956316] Chr5:141491253 [GRCh38]
Chr5:140870820 [GRCh37]
Chr5:5q31.3
benign
NM_018913.3(PCDHGA10):c.32C>G (p.Ser11Ter) single nucleotide variant not provided [RCV000912014] Chr5:141413207 [GRCh38]
Chr5:140792774 [GRCh37]
Chr5:5q31.3
likely benign
NM_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_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
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.1449C>G (p.Asp483Glu) single nucleotide variant Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248460] Chr5:141486622 [GRCh38]
Chr5:140866189 [GRCh37]
Chr5:5q31.3
pathogenic
NM_018928.3(PCDHGC4):c.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.324del (p.Phe108fs) deletion Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248463] Chr5:141485495 [GRCh38]
Chr5:140865062 [GRCh37]
Chr5:5q31.3
pathogenic
NM_018928.3(PCDHGC4):c.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
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_018914.3(PCDHGA11):c.1046C>A (p.Thr349Asn) single nucleotide variant Inborn genetic diseases [RCV003295056] Chr5:141422273 [GRCh38]
Chr5:140801840 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.2041C>G (p.Pro681Ala) single nucleotide variant Inborn genetic diseases [RCV003276469] Chr5:141432800 [GRCh38]
Chr5:140812367 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.191T>C (p.Leu64Pro) single nucleotide variant Inborn genetic diseases [RCV003242204] Chr5:141485364 [GRCh38]
Chr5:140864931 [GRCh37]
Chr5:5q31.3
uncertain significance
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_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_003736.4(PCDHGB4):c.2266C>A (p.His756Asn) single nucleotide variant Inborn genetic diseases [RCV003260976] Chr5:141390150 [GRCh38]
Chr5:140769717 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1306A>G (p.Thr436Ala) single nucleotide variant Inborn genetic diseases [RCV003262761] Chr5:141384205 [GRCh38]
Chr5:140763772 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1043A>G (p.Gln348Arg) single nucleotide variant Inborn genetic diseases [RCV003286132] Chr5:141388927 [GRCh38]
Chr5:140768494 [GRCh37]
Chr5:5q31.3
uncertain significance
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3 copy number gain not provided [RCV002474614] Chr5:140082762..140773954 [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_018921.3(PCDHGA9):c.661C>T (p.Arg221Cys) single nucleotide variant Inborn genetic diseases [RCV003264834] Chr5:141403613 [GRCh38]
Chr5:140783180 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.121C>A (p.Leu41Met) single nucleotide variant Inborn genetic diseases [RCV002771913] Chr5:141417980 [GRCh38]
Chr5:140797547 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_003736.4(PCDHGB4):c.1466T>G (p.Ile489Ser) single nucleotide variant Inborn genetic diseases [RCV003287196] Chr5:141389350 [GRCh38]
Chr5:140768917 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1933C>T (p.Arg645Cys) single nucleotide variant Inborn genetic diseases [RCV002816841] Chr5:141389817 [GRCh38]
Chr5:140769384 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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.2237T>C (p.Val746Ala) single nucleotide variant Inborn genetic diseases [RCV002880006] Chr5:141385136 [GRCh38]
Chr5:140764703 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.442C>T (p.Pro148Ser) single nucleotide variant Inborn genetic diseases [RCV002841447] Chr5:141393255 [GRCh38]
Chr5:140772822 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.118C>A (p.Gln40Lys) single nucleotide variant Inborn genetic diseases [RCV002753807] Chr5:141485291 [GRCh38]
Chr5:140864858 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.2027T>A (p.Val676Glu) single nucleotide variant Inborn genetic diseases [RCV002839687] Chr5:141400154 [GRCh38]
Chr5:140779721 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2232C>A (p.Asp744Glu) single nucleotide variant Inborn genetic diseases [RCV002859629] Chr5:141385131 [GRCh38]
Chr5:140764698 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.2266T>A (p.Ser756Thr) single nucleotide variant Inborn genetic diseases [RCV002729753] Chr5:141487439 [GRCh38]
Chr5:140867006 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1775G>T (p.Arg592Leu) single nucleotide variant Inborn genetic diseases [RCV002682879] Chr5:141477891 [GRCh38]
Chr5:140857458 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1286C>A (p.Thr429Lys) single nucleotide variant Inborn genetic diseases [RCV002728805] Chr5:141375369 [GRCh38]
Chr5:140754936 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.778G>A (p.Gly260Ser) single nucleotide variant Inborn genetic diseases [RCV002685215] Chr5:141476894 [GRCh38]
Chr5:140856461 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_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_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_018913.3(PCDHGA10):c.2035C>G (p.Leu679Val) single nucleotide variant Inborn genetic diseases [RCV002859056] Chr5:141415210 [GRCh38]
Chr5:140794777 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1052C>G (p.Ser351Cys) single nucleotide variant Inborn genetic diseases [RCV002752010] Chr5:141393865 [GRCh38]
Chr5:140773432 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_018925.3(PCDHGB5):c.1466C>A (p.Ala489Asp) single nucleotide variant Inborn genetic diseases [RCV002778436] Chr5:141399593 [GRCh38]
Chr5:140779160 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.2293A>C (p.Lys765Gln) single nucleotide variant Inborn genetic diseases [RCV002794110] Chr5:141433052 [GRCh38]
Chr5:140812619 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.494G>A (p.Gly165Glu) single nucleotide variant Inborn genetic diseases [RCV002753651] Chr5:141476610 [GRCh38]
Chr5:140856177 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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.1960G>A (p.Ala654Thr) single nucleotide variant Inborn genetic diseases [RCV002968319] Chr5:141389844 [GRCh38]
Chr5:140769411 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.989G>A (p.Arg330Gln) single nucleotide variant Inborn genetic diseases [RCV002778929] Chr5:141418848 [GRCh38]
Chr5:140798415 [GRCh37]
Chr5:5q31.3
likely benign
NM_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_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_018928.3(PCDHGC4):c.74G>C (p.Gly25Ala) single nucleotide variant Inborn genetic diseases [RCV002688535] Chr5:141485247 [GRCh38]
Chr5:140864814 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.601G>C (p.Asp201His) single nucleotide variant Inborn genetic diseases [RCV002974299] Chr5:141393414 [GRCh38]
Chr5:140772981 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.74G>T (p.Arg25Leu) single nucleotide variant Inborn genetic diseases [RCV002778656] Chr5:141421301 [GRCh38]
Chr5:140800868 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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.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_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_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_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_003735.3(PCDHGA12):c.1883C>T (p.Thr628Met) single nucleotide variant Inborn genetic diseases [RCV002688016] Chr5:141432642 [GRCh38]
Chr5:140812209 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2377G>A (p.Val793Ile) single nucleotide variant Inborn genetic diseases [RCV002688549] Chr5:141405329 [GRCh38]
Chr5:140784896 [GRCh37]
Chr5:5q31.3
likely benign
NM_018919.3(PCDHGA6):c.1193T>C (p.Val398Ala) single nucleotide variant Inborn genetic diseases [RCV002684568] Chr5:141375276 [GRCh38]
Chr5:140754843 [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.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.967C>T (p.Arg323Cys) single nucleotide variant Inborn genetic diseases [RCV002902754] Chr5:141490207 [GRCh38]
Chr5:140869774 [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_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_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.2375G>T (p.Ser792Ile) single nucleotide variant Inborn genetic diseases [RCV002907058] Chr5:141487548 [GRCh38]
Chr5:140867115 [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_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_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_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_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_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_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_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_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_018925.3(PCDHGB5):c.1903C>T (p.Arg635Cys) single nucleotide variant Inborn genetic diseases [RCV002836903] Chr5:141400030 [GRCh38]
Chr5:140779597 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.718C>T (p.Pro240Ser) single nucleotide variant Inborn genetic diseases [RCV002968459] Chr5:141383617 [GRCh38]
Chr5:140763184 [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_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_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.506G>T (p.Ser169Ile) single nucleotide variant Inborn genetic diseases [RCV002732936] Chr5:141383405 [GRCh38]
Chr5:140762972 [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_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_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_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_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_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_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_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_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_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_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_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_032088.2(PCDHGA8):c.2206C>G (p.Pro736Ala) single nucleotide variant Inborn genetic diseases [RCV002707906] Chr5:141395019 [GRCh38]
Chr5:140774586 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1345G>T (p.Ala449Ser) single nucleotide variant Inborn genetic diseases [RCV002868362] Chr5:141409547 [GRCh38]
Chr5:140789114 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.383A>G (p.Asp128Gly) single nucleotide variant Inborn genetic diseases [RCV002981104] Chr5:141393196 [GRCh38]
Chr5:140772763 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1121G>A (p.Arg374Gln) single nucleotide variant Inborn genetic diseases [RCV002761827] Chr5:141404073 [GRCh38]
Chr5:140783640 [GRCh37]
Chr5:5q31.3
likely benign
NM_002588.4(PCDHGC3):c.1679G>A (p.Arg560His) single nucleotide variant Inborn genetic diseases [RCV002758563] Chr5:141477795 [GRCh38]
Chr5:140857362 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_018914.3(PCDHGA11):c.28C>T (p.Arg10Cys) single nucleotide variant Inborn genetic diseases [RCV002758796] Chr5:141421255 [GRCh38]
Chr5:140800822 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1436C>T (p.Pro479Leu) single nucleotide variant Inborn genetic diseases [RCV002762265] Chr5:141432195 [GRCh38]
Chr5:140811762 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.302G>T (p.Arg101Leu) single nucleotide variant Inborn genetic diseases [RCV002762282] Chr5:141383201 [GRCh38]
Chr5:140762768 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_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_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_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_018929.3(PCDHGC5):c.218G>A (p.Arg73His) single nucleotide variant Inborn genetic diseases [RCV002693330] Chr5:141489458 [GRCh38]
Chr5:140869025 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.1237A>G (p.Asn413Asp) single nucleotide variant Inborn genetic diseases [RCV002738383] Chr5:141389121 [GRCh38]
Chr5:140768688 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.824C>A (p.Ala275Asp) single nucleotide variant Inborn genetic diseases [RCV002844391] Chr5:141388708 [GRCh38]
Chr5:140768275 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_018920.4(PCDHGA7):c.70T>C (p.Trp24Arg) single nucleotide variant Inborn genetic diseases [RCV002759323] Chr5:141382969 [GRCh38]
Chr5:140762536 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2351G>A (p.Gly784Asp) single nucleotide variant Inborn genetic diseases [RCV002868150] Chr5:141491591 [GRCh38]
Chr5:140871158 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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.730C>T (p.His244Tyr) single nucleotide variant Inborn genetic diseases [RCV002691515] Chr5:141393543 [GRCh38]
Chr5:140773110 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1790C>T (p.Ala597Val) single nucleotide variant Inborn genetic diseases [RCV002758030] Chr5:141414965 [GRCh38]
Chr5:140794532 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.676G>A (p.Ala226Thr) single nucleotide variant Inborn genetic diseases [RCV002868179] Chr5:141408878 [GRCh38]
Chr5:140788445 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1355A>G (p.Gln452Arg) single nucleotide variant Inborn genetic diseases [RCV002739882] Chr5:141389239 [GRCh38]
Chr5:140768806 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.244G>C (p.Gly82Arg) single nucleotide variant Inborn genetic diseases [RCV002757992] Chr5:141393057 [GRCh38]
Chr5:140772624 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1915C>A (p.Arg639Ser) single nucleotide variant Inborn genetic diseases [RCV002784135] Chr5:141389799 [GRCh38]
Chr5:140769366 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1205A>G (p.Tyr402Cys) single nucleotide variant Inborn genetic diseases [RCV002951415] Chr5:141419064 [GRCh38]
Chr5:140798631 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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.1922G>A (p.Ser641Asn) single nucleotide variant Inborn genetic diseases [RCV002660507] Chr5:141432681 [GRCh38]
Chr5:140812248 [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.464T>C (p.Met155Thr) single nucleotide variant Inborn genetic diseases [RCV002758189] Chr5:141374547 [GRCh38]
Chr5:140754114 [GRCh37]
Chr5:5q31.3
likely benign
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_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.1894C>T (p.Arg632Cys) single nucleotide variant Inborn genetic diseases [RCV002661377] Chr5:141478010 [GRCh38]
Chr5:140857577 [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_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_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.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_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_018920.4(PCDHGA7):c.619G>A (p.Val207Ile) single nucleotide variant Inborn genetic diseases [RCV002758156] Chr5:141383518 [GRCh38]
Chr5:140763085 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.1070T>C (p.Val357Ala) single nucleotide variant Inborn genetic diseases [RCV002887039] Chr5:141399197 [GRCh38]
Chr5:140778764 [GRCh37]
Chr5:5q31.3
uncertain significance
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_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_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_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_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_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_018925.3(PCDHGB5):c.1310A>T (p.His437Leu) single nucleotide variant Inborn genetic diseases [RCV002797668] Chr5:141399437 [GRCh38]
Chr5:140779004 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1928T>A (p.Val643Glu) single nucleotide variant Inborn genetic diseases [RCV002704066] Chr5:141384827 [GRCh38]
Chr5:140764394 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.941G>A (p.Arg314His) single nucleotide variant Inborn genetic diseases [RCV002978781] Chr5:141490181 [GRCh38]
Chr5:140869748 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_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_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_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_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_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_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_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_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_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_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_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_018913.3(PCDHGA10):c.1856G>T (p.Gly619Val) single nucleotide variant Inborn genetic diseases [RCV002768460] Chr5:141415031 [GRCh38]
Chr5:140794598 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1802A>C (p.Asn601Thr) single nucleotide variant Inborn genetic diseases [RCV002768560] Chr5:141432561 [GRCh38]
Chr5:140812128 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1450C>T (p.Pro484Ser) single nucleotide variant Inborn genetic diseases [RCV002955393] Chr5:141477566 [GRCh38]
Chr5:140857133 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1714G>A (p.Glu572Lys) single nucleotide variant Inborn genetic diseases [RCV002742108] Chr5:141490954 [GRCh38]
Chr5:140870521 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.862T>A (p.Phe288Ile) single nucleotide variant Inborn genetic diseases [RCV002955588] Chr5:141398989 [GRCh38]
Chr5:140778556 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.649G>A (p.Gly217Arg) single nucleotide variant Inborn genetic diseases [RCV002787534] Chr5:141485822 [GRCh38]
Chr5:140865389 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_018926.3(PCDHGB6):c.83C>T (p.Thr28Ile) single nucleotide variant Inborn genetic diseases [RCV002802373] Chr5:141408285 [GRCh38]
Chr5:140787852 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1129C>T (p.Arg377Trp) single nucleotide variant Inborn genetic diseases [RCV002743829] Chr5:141490369 [GRCh38]
Chr5:140869936 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.326T>C (p.Val109Ala) single nucleotide variant Inborn genetic diseases [RCV002802692] Chr5:141388210 [GRCh38]
Chr5:140767777 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.605G>T (p.Arg202Leu) single nucleotide variant Inborn genetic diseases [RCV002789895] Chr5:141431364 [GRCh38]
Chr5:140810931 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1505A>C (p.Tyr502Ser) single nucleotide variant Inborn genetic diseases [RCV002915848] Chr5:141389389 [GRCh38]
Chr5:140768956 [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_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_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_018926.3(PCDHGB6):c.2375A>G (p.His792Arg) single nucleotide variant Inborn genetic diseases [RCV002788827] Chr5:141410577 [GRCh38]
Chr5:140790144 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1372T>G (p.Ser458Ala) single nucleotide variant Inborn genetic diseases [RCV002764657] Chr5:141384271 [GRCh38]
Chr5:140763838 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1978C>G (p.Leu660Val) single nucleotide variant Inborn genetic diseases [RCV002956637] Chr5:141376061 [GRCh38]
Chr5:140755628 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_002588.4(PCDHGC3):c.1046C>A (p.Ala349Asp) single nucleotide variant Inborn genetic diseases [RCV002640789] Chr5:141477162 [GRCh38]
Chr5:140856729 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.988A>G (p.Asn330Asp) single nucleotide variant Inborn genetic diseases [RCV002713285] Chr5:141477104 [GRCh38]
Chr5:140856671 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.995T>C (p.Leu332Pro) single nucleotide variant Inborn genetic diseases [RCV002763057] Chr5:141414170 [GRCh38]
Chr5:140793737 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1661A>G (p.Asn554Ser) single nucleotide variant Inborn genetic diseases [RCV002826147] Chr5:141389545 [GRCh38]
Chr5:140769112 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1482C>G (p.Phe494Leu) single nucleotide variant Inborn genetic diseases [RCV002915644] Chr5:141477598 [GRCh38]
Chr5:140857165 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.349A>T (p.Arg117Trp) single nucleotide variant Inborn genetic diseases [RCV002956204] Chr5:141413524 [GRCh38]
Chr5:140793091 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_018925.3(PCDHGB5):c.1042C>G (p.Leu348Val) single nucleotide variant Inborn genetic diseases [RCV002987160] Chr5:141399169 [GRCh38]
Chr5:140778736 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.152A>C (p.Asp51Ala) single nucleotide variant Inborn genetic diseases [RCV003006720] Chr5:141430911 [GRCh38]
Chr5:140810478 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_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_018921.3(PCDHGA9):c.432A>C (p.Glu144Asp) single nucleotide variant Inborn genetic diseases [RCV002931442] Chr5:141403384 [GRCh38]
Chr5:140782951 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.164A>G (p.Asp55Gly) single nucleotide variant Inborn genetic diseases [RCV002767967] Chr5:141413339 [GRCh38]
Chr5:140792906 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1714G>A (p.Asp572Asn) single nucleotide variant Inborn genetic diseases [RCV002767561] Chr5:141399841 [GRCh38]
Chr5:140779408 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.280G>A (p.Glu94Lys) single nucleotide variant Inborn genetic diseases [RCV002712506] Chr5:141388164 [GRCh38]
Chr5:140767731 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2180C>T (p.Ala727Val) single nucleotide variant Inborn genetic diseases [RCV002929413] Chr5:141405132 [GRCh38]
Chr5:140784699 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1519G>A (p.Val507Met) single nucleotide variant Inborn genetic diseases [RCV002787689] Chr5:141409721 [GRCh38]
Chr5:140789288 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.809A>T (p.Asp270Val) single nucleotide variant Inborn genetic diseases [RCV002954664] Chr5:141393622 [GRCh38]
Chr5:140773189 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_018919.3(PCDHGA6):c.292C>A (p.Gln98Lys) single nucleotide variant Inborn genetic diseases [RCV002826116] Chr5:141374375 [GRCh38]
Chr5:140753942 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.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_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.991G>T (p.Val331Leu) single nucleotide variant Inborn genetic diseases [RCV002956010] Chr5:141388875 [GRCh38]
Chr5:140768442 [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_018927.4(PCDHGB7):c.661C>A (p.Pro221Thr) single nucleotide variant Inborn genetic diseases [RCV002916781] Chr5:141418520 [GRCh38]
Chr5:140798087 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2080G>T (p.Val694Phe) single nucleotide variant Inborn genetic diseases [RCV002744993] Chr5:141405032 [GRCh38]
Chr5:140784599 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1085C>T (p.Pro362Leu) single nucleotide variant Inborn genetic diseases [RCV002789818] Chr5:141393898 [GRCh38]
Chr5:140773465 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_018919.3(PCDHGA6):c.1291C>A (p.Pro431Thr) single nucleotide variant Inborn genetic diseases [RCV002702486] Chr5:141375374 [GRCh38]
Chr5:140754941 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.2261C>T (p.Ser754Phe) single nucleotide variant Inborn genetic diseases [RCV002961814] Chr5:141395074 [GRCh38]
Chr5:140774641 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.442C>A (p.Pro148Thr) single nucleotide variant Inborn genetic diseases [RCV002934556] Chr5:141388326 [GRCh38]
Chr5:140767893 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1261C>T (p.Pro421Ser) single nucleotide variant Inborn genetic diseases [RCV002896889] Chr5:141477377 [GRCh38]
Chr5:140856944 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1723G>A (p.Gly575Ser) single nucleotide variant Inborn genetic diseases [RCV002920238] Chr5:141414898 [GRCh38]
Chr5:140794465 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.890C>A (p.Pro297His) single nucleotide variant Inborn genetic diseases [RCV002769865] Chr5:141490130 [GRCh38]
Chr5:140869697 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.895G>C (p.Gly299Arg) single nucleotide variant Inborn genetic diseases [RCV002879186] Chr5:141374978 [GRCh38]
Chr5:140754545 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.286T>G (p.Cys96Gly) single nucleotide variant Inborn genetic diseases [RCV002988173] Chr5:141408488 [GRCh38]
Chr5:140788055 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.37T>A (p.Leu13Ile) single nucleotide variant Inborn genetic diseases [RCV002808524] Chr5:141402989 [GRCh38]
Chr5:140782556 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1439G>T (p.Gly480Val) single nucleotide variant Inborn genetic diseases [RCV002649246] Chr5:141389323 [GRCh38]
Chr5:140768890 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.373G>A (p.Asp125Asn) single nucleotide variant Inborn genetic diseases [RCV002935201] Chr5:141383272 [GRCh38]
Chr5:140762839 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2212T>G (p.Ser738Ala) single nucleotide variant Inborn genetic diseases [RCV002989208] Chr5:141385111 [GRCh38]
Chr5:140764678 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1990C>G (p.Leu664Val) single nucleotide variant Inborn genetic diseases [RCV002898060] Chr5:141415165 [GRCh38]
Chr5:140794732 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.2341G>A (p.Asp781Asn) single nucleotide variant Inborn genetic diseases [RCV002959517] Chr5:141390225 [GRCh38]
Chr5:140769792 [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_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_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_018914.3(PCDHGA11):c.2213C>T (p.Thr738Met) single nucleotide variant Inborn genetic diseases [RCV002936076] Chr5:141423440 [GRCh38]
Chr5:140803007 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1678C>A (p.Pro560Thr) single nucleotide variant Inborn genetic diseases [RCV002935091] Chr5:141394491 [GRCh38]
Chr5:140774058 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.707A>G (p.Asn236Ser) single nucleotide variant Inborn genetic diseases [RCV002673562] Chr5:141489947 [GRCh38]
Chr5:140869514 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.445C>T (p.Pro149Ser) single nucleotide variant Inborn genetic diseases [RCV002935684] Chr5:141421672 [GRCh38]
Chr5:140801239 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_002588.4(PCDHGC3):c.1661A>G (p.Asn554Ser) single nucleotide variant Inborn genetic diseases [RCV002831843] Chr5:141477777 [GRCh38]
Chr5:140857344 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.577G>A (p.Val193Ile) single nucleotide variant Inborn genetic diseases [RCV002935255] Chr5:141413752 [GRCh38]
Chr5:140793319 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.2273C>T (p.Thr758Met) single nucleotide variant Inborn genetic diseases [RCV002898059] Chr5:141400400 [GRCh38]
Chr5:140779967 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.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_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_018926.3(PCDHGB6):c.2186C>A (p.Pro729His) single nucleotide variant Inborn genetic diseases [RCV002855482] Chr5:141410388 [GRCh38]
Chr5:140789955 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1061G>A (p.Ser354Asn) single nucleotide variant Inborn genetic diseases [RCV002896724] Chr5:141393874 [GRCh38]
Chr5:140773441 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.853G>A (p.Ala285Thr) single nucleotide variant Inborn genetic diseases [RCV002703193] Chr5:141409055 [GRCh38]
Chr5:140788622 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.427G>A (p.Val143Ile) single nucleotide variant Inborn genetic diseases [RCV003010866] Chr5:141421654 [GRCh38]
Chr5:140801221 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1182A>C (p.Leu394Phe) single nucleotide variant Inborn genetic diseases [RCV002836038] Chr5:141393995 [GRCh38]
Chr5:140773562 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.2246C>T (p.Ser749Phe) single nucleotide variant Inborn genetic diseases [RCV002939225] Chr5:141390130 [GRCh38]
Chr5:140769697 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1804G>C (p.Ala602Pro) single nucleotide variant Inborn genetic diseases [RCV002941407] Chr5:141384703 [GRCh38]
Chr5:140764270 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.286T>C (p.Cys96Arg) single nucleotide variant Inborn genetic diseases [RCV002669198] Chr5:141408488 [GRCh38]
Chr5:140788055 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1895T>A (p.Leu632Gln) single nucleotide variant Inborn genetic diseases [RCV002808094] Chr5:141384794 [GRCh38]
Chr5:140764361 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.703A>G (p.Thr235Ala) single nucleotide variant Inborn genetic diseases [RCV002941197] Chr5:141393516 [GRCh38]
Chr5:140773083 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.356T>C (p.Val119Ala) single nucleotide variant Inborn genetic diseases [RCV002680402] Chr5:141431115 [GRCh38]
Chr5:140810682 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1358C>T (p.Pro453Leu) single nucleotide variant Inborn genetic diseases [RCV002724914] Chr5:141375441 [GRCh38]
Chr5:140755008 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_018920.4(PCDHGA7):c.1286C>A (p.Thr429Asn) single nucleotide variant Inborn genetic diseases [RCV002814225] Chr5:141384185 [GRCh38]
Chr5:140763752 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.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_002588.4(PCDHGC3):c.1510G>A (p.Gly504Arg) single nucleotide variant Inborn genetic diseases [RCV002678665] Chr5:141477626 [GRCh38]
Chr5:140857193 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1411A>G (p.Ile471Val) single nucleotide variant Inborn genetic diseases [RCV002652357] Chr5:141409613 [GRCh38]
Chr5:140789180 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.761A>T (p.Asp254Val) single nucleotide variant Inborn genetic diseases [RCV002652451] Chr5:141418620 [GRCh38]
Chr5:140798187 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1702G>A (p.Asp568Asn) single nucleotide variant Inborn genetic diseases [RCV002679502] Chr5:141389586 [GRCh38]
Chr5:140769153 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1657G>C (p.Val553Leu) single nucleotide variant Inborn genetic diseases [RCV002656012] Chr5:141422884 [GRCh38]
Chr5:140802451 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1425C>A (p.Ser475Arg) single nucleotide variant Inborn genetic diseases [RCV002677358] Chr5:141409627 [GRCh38]
Chr5:140789194 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_018914.3(PCDHGA11):c.286C>G (p.Leu96Val) single nucleotide variant Inborn genetic diseases [RCV003279262] Chr5:141421513 [GRCh38]
Chr5:140801080 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.412C>G (p.Leu138Val) single nucleotide variant Inborn genetic diseases [RCV003256689] Chr5:141485585 [GRCh38]
Chr5:140865152 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1153G>A (p.Glu385Lys) single nucleotide variant Inborn genetic diseases [RCV003299396] Chr5:141399280 [GRCh38]
Chr5:140778847 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.2045T>C (p.Leu682Pro) single nucleotide variant Inborn genetic diseases [RCV003257183] Chr5:141423272 [GRCh38]
Chr5:140802839 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.1528G>A (p.Gly510Arg) single nucleotide variant Inborn genetic diseases [RCV003280474] Chr5:141389412 [GRCh38]
Chr5:140768979 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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.698T>C (p.Leu233Pro) single nucleotide variant Inborn genetic diseases [RCV003200279] Chr5:141431457 [GRCh38]
Chr5:140811024 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.407A>G (p.Glu136Gly) single nucleotide variant Inborn genetic diseases [RCV003200331] Chr5:141374490 [GRCh38]
Chr5:140754057 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.2297A>T (p.Asn766Ile) single nucleotide variant Inborn genetic diseases [RCV003209835] Chr5:141420156 [GRCh38]
Chr5:140799723 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1121C>T (p.Ser374Phe) single nucleotide variant Inborn genetic diseases [RCV003220402] Chr5:141389005 [GRCh38]
Chr5:140768572 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.2443C>G (p.Leu815Val) single nucleotide variant Inborn genetic diseases [RCV003220538] Chr5:141491683 [GRCh38]
Chr5:140871250 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_018921.3(PCDHGA9):c.244G>C (p.Gly82Arg) single nucleotide variant Inborn genetic diseases [RCV003180560] Chr5:141403196 [GRCh38]
Chr5:140782763 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.69C>A (p.His23Gln) single nucleotide variant Inborn genetic diseases [RCV003189227] Chr5:141485242 [GRCh38]
Chr5:140864809 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1062C>G (p.Ser354Arg) single nucleotide variant Inborn genetic diseases [RCV003205045] Chr5:141431821 [GRCh38]
Chr5:140811388 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_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_018914.3(PCDHGA11):c.499T>G (p.Ser167Ala) single nucleotide variant Inborn genetic diseases [RCV003212994] Chr5:141421726 [GRCh38]
Chr5:140801293 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.401A>T (p.Gln134Leu) single nucleotide variant Inborn genetic diseases [RCV003287148] Chr5:141403353 [GRCh38]
Chr5:140782920 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.829A>G (p.Ile277Val) single nucleotide variant Inborn genetic diseases [RCV003210513] Chr5:141409031 [GRCh38]
Chr5:140788598 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.2311G>A (p.Val771Ile) single nucleotide variant Inborn genetic diseases [RCV003173298] Chr5:141420170 [GRCh38]
Chr5:140799737 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1507A>G (p.Met503Val) single nucleotide variant Inborn genetic diseases [RCV003195862] Chr5:141399634 [GRCh38]
Chr5:140779201 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.1400T>C (p.Ile467Thr) single nucleotide variant Inborn genetic diseases [RCV003183153] Chr5:141399527 [GRCh38]
Chr5:140779094 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_018919.3(PCDHGA6):c.885T>G (p.Asn295Lys) single nucleotide variant Inborn genetic diseases [RCV003196631] Chr5:141374968 [GRCh38]
Chr5:140754535 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.100C>T (p.Arg34Cys) single nucleotide variant Inborn genetic diseases [RCV003190958] Chr5:141417959 [GRCh38]
Chr5:140797526 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.1552A>G (p.Ile518Val) single nucleotide variant Inborn genetic diseases [RCV003201369] Chr5:141477668 [GRCh38]
Chr5:140857235 [GRCh37]
Chr5:5q31.3
likely benign
NM_018919.3(PCDHGA6):c.1706C>T (p.Thr569Ile) single nucleotide variant Inborn genetic diseases [RCV003282314] Chr5:141375789 [GRCh38]
Chr5:140755356 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.334G>A (p.Gly112Ser) single nucleotide variant Inborn genetic diseases [RCV003199316] Chr5:141485507 [GRCh38]
Chr5:140865074 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.163G>A (p.Asp55Asn) single nucleotide variant Inborn genetic diseases [RCV003212014] Chr5:141485336 [GRCh38]
Chr5:140864903 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1983T>A (p.His661Gln) single nucleotide variant Inborn genetic diseases [RCV003212157] Chr5:141410185 [GRCh38]
Chr5:140789752 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1584C>G (p.Phe528Leu) single nucleotide variant Inborn genetic diseases [RCV003302410] Chr5:141419443 [GRCh38]
Chr5:140799010 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1924C>T (p.Leu642Phe) single nucleotide variant Inborn genetic diseases [RCV003208118] Chr5:141432683 [GRCh38]
Chr5:140812250 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1634A>G (p.His545Arg) single nucleotide variant Inborn genetic diseases [RCV003197636] Chr5:141490874 [GRCh38]
Chr5:140870441 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1892C>T (p.Ala631Val) single nucleotide variant Inborn genetic diseases [RCV003260945] Chr5:141394705 [GRCh38]
Chr5:140774272 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1104T>G (p.His368Gln) single nucleotide variant Inborn genetic diseases [RCV003260946] Chr5:141399231 [GRCh38]
Chr5:140778798 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.164A>G (p.Asp55Gly) single nucleotide variant Inborn genetic diseases [RCV003180224] Chr5:141392977 [GRCh38]
Chr5:140772544 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1731G>A (p.Met577Ile) single nucleotide variant Inborn genetic diseases [RCV003185475] Chr5:141409933 [GRCh38]
Chr5:140789500 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1966G>A (p.Ala656Thr) single nucleotide variant Inborn genetic diseases [RCV003175720] Chr5:141376049 [GRCh38]
Chr5:140755616 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018913.3(PCDHGA10):c.1481C>A (p.Ser494Tyr) single nucleotide variant Inborn genetic diseases [RCV003198748] Chr5:141414656 [GRCh38]
Chr5:140794223 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_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_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_018914.3(PCDHGA11):c.2078A>G (p.Tyr693Cys) single nucleotide variant Inborn genetic diseases [RCV003180985] Chr5:141423305 [GRCh38]
Chr5:140802872 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1711G>C (p.Gly571Arg) single nucleotide variant Inborn genetic diseases [RCV003215819] Chr5:141375794 [GRCh38]
Chr5:140755361 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.136G>A (p.Gly46Arg) single nucleotide variant Inborn genetic diseases [RCV003220958] Chr5:141383035 [GRCh38]
Chr5:140762602 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.8G>A (p.Ser3Asn) single nucleotide variant Inborn genetic diseases [RCV003186619] Chr5:141398135 [GRCh38]
Chr5:140777702 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_032088.2(PCDHGA8):c.526C>T (p.His176Tyr) single nucleotide variant Inborn genetic diseases [RCV003191079] Chr5:141393339 [GRCh38]
Chr5:140772906 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.1540G>A (p.Ala514Thr) single nucleotide variant Inborn genetic diseases [RCV003175011] Chr5:141389424 [GRCh38]
Chr5:140768991 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.532T>C (p.Phe178Leu) single nucleotide variant Inborn genetic diseases [RCV003173125] Chr5:141408734 [GRCh38]
Chr5:140788301 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2423C>T (p.Pro808Leu) single nucleotide variant Inborn genetic diseases [RCV003191999] Chr5:141405375 [GRCh38]
Chr5:140784942 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.2266G>A (p.Glu756Lys) single nucleotide variant Inborn genetic diseases [RCV003173286] Chr5:141395079 [GRCh38]
Chr5:140774646 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1627A>C (p.Ser543Arg) single nucleotide variant Inborn genetic diseases [RCV003302412] Chr5:141419486 [GRCh38]
Chr5:140799053 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018929.3(PCDHGC5):c.1886G>A (p.Arg629His) single nucleotide variant Inborn genetic diseases [RCV003264729] Chr5:141491126 [GRCh38]
Chr5:140870693 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.2348A>G (p.Gln783Arg) single nucleotide variant Inborn genetic diseases [RCV003310196] Chr5:141405300 [GRCh38]
Chr5:140784867 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.1231G>A (p.Asp411Asn) single nucleotide variant Inborn genetic diseases [RCV003309123] Chr5:141404183 [GRCh38]
Chr5:140783750 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.989A>G (p.Asn330Ser) single nucleotide variant Inborn genetic diseases [RCV003309124] Chr5:141477105 [GRCh38]
Chr5:140856672 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.1511G>A (p.Ser504Asn) single nucleotide variant Inborn genetic diseases [RCV003338313] Chr5:141399638 [GRCh38]
Chr5:140779205 [GRCh37]
Chr5:5q31.3
likely benign
NM_018914.3(PCDHGA11):c.1018G>C (p.Asp340His) single nucleotide variant Inborn genetic diseases [RCV003339357] Chr5:141422245 [GRCh38]
Chr5:140801812 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_018926.3(PCDHGB6):c.1057T>C (p.Ser353Pro) single nucleotide variant Inborn genetic diseases [RCV003343455] Chr5:141409259 [GRCh38]
Chr5:140788826 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_032088.2(PCDHGA8):c.1852T>G (p.Ser618Ala) single nucleotide variant Inborn genetic diseases [RCV003343307] Chr5:141394665 [GRCh38]
Chr5:140774232 [GRCh37]
Chr5:5q31.3
likely benign
NM_018929.3(PCDHGC5):c.729A>T (p.Gln243His) single nucleotide variant Inborn genetic diseases [RCV003379302] Chr5:141489969 [GRCh38]
Chr5:140869536 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_002588.4(PCDHGC3):c.1571C>A (p.Pro524His) single nucleotide variant Inborn genetic diseases [RCV003359110] Chr5:141477687 [GRCh38]
Chr5:140857254 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.408T>G (p.Ser136Arg) single nucleotide variant Inborn genetic diseases [RCV003378740] Chr5:141431167 [GRCh38]
Chr5:140810734 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1259T>A (p.Ile420Asn) single nucleotide variant Inborn genetic diseases [RCV003345506] Chr5:141375342 [GRCh38]
Chr5:140754909 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018927.4(PCDHGB7):c.1310C>T (p.Thr437Ile) single nucleotide variant Inborn genetic diseases [RCV003345650] Chr5:141419169 [GRCh38]
Chr5:140798736 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018914.3(PCDHGA11):c.1085C>T (p.Pro362Leu) single nucleotide variant Inborn genetic diseases [RCV003359748] Chr5:141422312 [GRCh38]
Chr5:140801879 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003736.4(PCDHGB4):c.838T>C (p.Ser280Pro) single nucleotide variant Inborn genetic diseases [RCV003346121] Chr5:141388722 [GRCh38]
Chr5:140768289 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2275C>T (p.Leu759Phe) single nucleotide variant Inborn genetic diseases [RCV003381559] Chr5:141385174 [GRCh38]
Chr5:140764741 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_018919.3(PCDHGA6):c.518G>C (p.Ser173Thr) single nucleotide variant Inborn genetic diseases [RCV003367675] Chr5:141374601 [GRCh38]
Chr5:140754168 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018919.3(PCDHGA6):c.1683G>C (p.Glu561Asp) single nucleotide variant Inborn genetic diseases [RCV003375149] Chr5:141375766 [GRCh38]
Chr5:140755333 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018926.3(PCDHGB6):c.1070T>G (p.Leu357Trp) single nucleotide variant Inborn genetic diseases [RCV003362281] Chr5:141409272 [GRCh38]
Chr5:140788839 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_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_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_018926.3(PCDHGB6):c.119A>G (p.Glu40Gly) single nucleotide variant Inborn genetic diseases [RCV003385341] Chr5:141408321 [GRCh38]
Chr5:140787888 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.1512C>A (p.Ser504Arg) single nucleotide variant Inborn genetic diseases [RCV003347798] Chr5:141399639 [GRCh38]
Chr5:140779206 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018925.3(PCDHGB5):c.29G>A (p.Arg10Gln) single nucleotide variant Inborn genetic diseases [RCV003370430] Chr5:141398156 [GRCh38]
Chr5:140777723 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003735.3(PCDHGA12):c.1869G>A (p.Thr623=) single nucleotide variant Inborn genetic diseases [RCV003386192] Chr5:141432628 [GRCh38]
Chr5:140812195 [GRCh37]
Chr5:5q31.3
likely benign
NM_032088.2(PCDHGA8):c.1136A>G (p.Asn379Ser) single nucleotide variant Inborn genetic diseases [RCV003374568] Chr5:141393949 [GRCh38]
Chr5:140773516 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.1640C>T (p.Ser547Leu) single nucleotide variant Inborn genetic diseases [RCV003348134] Chr5:141384539 [GRCh38]
Chr5:140764106 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.2282C>A (p.Ala761Glu) single nucleotide variant Inborn genetic diseases [RCV003368712] Chr5:141385181 [GRCh38]
Chr5:140764748 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_002588.4(PCDHGC3):c.921G>T (p.Lys307Asn) single nucleotide variant Inborn genetic diseases [RCV003354374] Chr5:141477037 [GRCh38]
Chr5:140856604 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_018925.3(PCDHGB5):c.1954G>A (p.Ala652Thr) single nucleotide variant Inborn genetic diseases [RCV003383629] Chr5:141400081 [GRCh38]
Chr5:140779648 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018921.3(PCDHGA9):c.748A>G (p.Lys250Glu) single nucleotide variant Inborn genetic diseases [RCV003371708] Chr5:141403700 [GRCh38]
Chr5:140783267 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.1433C>A (p.Ala478Glu) single nucleotide variant Inborn genetic diseases [RCV003376172] Chr5:141486606 [GRCh38]
Chr5:140866173 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018928.3(PCDHGC4):c.886C>T (p.His296Tyr) single nucleotide variant Inborn genetic diseases [RCV003363824] Chr5:141486059 [GRCh38]
Chr5:140865626 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018920.4(PCDHGA7):c.131T>C (p.Phe44Ser) single nucleotide variant Inborn genetic diseases [RCV003366564] Chr5:141383030 [GRCh38]
Chr5:140762597 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_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_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_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_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_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_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_018912.3(PCDHGA1):c.2502C>T (p.Thr834=) single nucleotide variant not provided [RCV003429858] Chr5:141505414 [GRCh38]
Chr5:140884981 [GRCh37]
Chr5:5q31.3
likely benign
NM_003736.4(PCDHGB4):c.2397+42563A>G single nucleotide variant not provided [RCV003428654] Chr5:141432844 [GRCh38]
Chr5:140812411 [GRCh37]
Chr5:5q31.3
benign
NM_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_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.1838G>C (p.Gly613Ala) single nucleotide variant not provided [RCV003429847] Chr5:141389722 [GRCh38]
Chr5:140769289 [GRCh37]
Chr5:5q31.3
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_018919.3(PCDHGA6):c.2210G>C (p.Gly737Ala) single nucleotide variant not provided [RCV003429844] Chr5:141376293 [GRCh38]
Chr5:140755860 [GRCh37]
Chr5:5q31.3
likely benign
NM_018925.3(PCDHGB5):c.2241C>T (p.Ser747=) single nucleotide variant not provided [RCV003429849] Chr5:141400368 [GRCh38]
Chr5:140779935 [GRCh37]
Chr5:5q31.3
likely benign
NM_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_018926.3(PCDHGB6):c.1962C>T (p.Leu654=) single nucleotide variant not provided [RCV003428652] Chr5:141410164 [GRCh38]
Chr5:140789731 [GRCh37]
Chr5:5q31.3
likely benign
NM_018926.3(PCDHGB6):c.1146C>T (p.Val382=) single nucleotide variant not provided [RCV003429852] Chr5:141409348 [GRCh38]
Chr5:140788915 [GRCh37]
Chr5:5q31.3
likely benign
NM_003735.3(PCDHGA12):c.1656G>A (p.Val552=) single nucleotide variant not provided [RCV003429857] Chr5:141432415 [GRCh38]
Chr5:140811982 [GRCh37]
Chr5:5q31.3
likely benign
NM_018928.3(PCDHGC4):c.2092G>C (p.Val698Leu) single nucleotide variant not provided [RCV003428655] Chr5:141487265 [GRCh38]
Chr5:140866832 [GRCh37]
Chr5:5q31.3
likely benign
NM_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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1152
Count of miRNA genes:638
Interacting mature miRNAs:748
Transcripts:ENST00000517434
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 5 1 10 2 5 2
Low 2014 2176 1340 263 925 105 3804 1679 2972 260 1333 1510 171 1 1197 2340 5 2
Below cutoff 416 688 357 334 881 333 547 515 752 144 108 96 3 7 448 1

Sequence


RefSeq Acc Id: ENST00000517434   ⟹   ENSP00000429601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,373,891 - 141,512,975 (+)Ensembl
RefSeq Acc Id: ENST00000610583   ⟹   ENSP00000479478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,373,993 - 141,379,642 (+)Ensembl
RefSeq Acc Id: NM_018919   ⟹   NP_061742
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,373,891 - 141,512,975 (+)NCBI
GRCh375140,749,811 - 140,892,546 (+)NCBI
Build 365140,733,835 - 140,872,730 (+)NCBI Archive
Celera5136,830,476 - 136,969,282 (+)RGD
HuRef5135,898,726 - 136,037,386 (+)ENTREZGENE
CHM1_15140,186,858 - 140,325,823 (+)NCBI
T2T-CHM13v2.05141,899,519 - 142,038,959 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032086   ⟹   NP_114475
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,373,891 - 141,379,645 (+)NCBI
GRCh375140,749,811 - 140,892,546 (+)NCBI
Build 365140,733,835 - 140,736,291 (+)NCBI Archive
Celera5136,830,476 - 136,969,282 (+)RGD
HuRef5135,898,726 - 136,037,386 (+)ENTREZGENE
CHM1_15140,186,858 - 140,189,314 (+)NCBI
T2T-CHM13v2.05141,899,519 - 141,905,284 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061742   ⟸   NM_018919
- Peptide Label: isoform 1 precursor
- UniProtKB: B2RN55 (UniProtKB/Swiss-Prot),   A6H8K7 (UniProtKB/Swiss-Prot),   Q9Y5D1 (UniProtKB/Swiss-Prot),   Q9Y5G7 (UniProtKB/Swiss-Prot),   Q59GD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_114475   ⟸   NM_032086
- Peptide Label: isoform 2 precursor
- UniProtKB: Q59GD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000429601   ⟸   ENST00000517434
RefSeq Acc Id: ENSP00000479478   ⟸   ENST00000610583
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5G7-F1-model_v2 AlphaFold Q9Y5G7 1-932 view protein structure

Promoters
RGD ID:6870970
Promoter ID:EPDNEW_H8649
Type:initiation region
Name:PCDHGA6_1
Description:protocadherin gamma subfamily A, 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8650  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,373,891 - 141,373,951EPDNEW
RGD ID:6870972
Promoter ID:EPDNEW_H8650
Type:multiple initiation site
Name:PCDHGA6_2
Description:protocadherin gamma subfamily A, 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8649  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,376,216 - 141,376,276EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8704 AgrOrtholog
COSMIC PCDHGA6 COSMIC
Ensembl Genes ENSG00000253731 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000517434 ENTREZGENE
  ENST00000517434.3 UniProtKB/Swiss-Prot
  ENST00000610583 ENTREZGENE
  ENST00000610583.1 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000253731 GTEx
HGNC ID HGNC:8704 ENTREZGENE
Human Proteome Map PCDHGA6 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56109 UniProtKB/Swiss-Prot
NCBI Gene 56109 ENTREZGENE
OMIM 606293 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTOCADHERIN GAMMA-A6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33052 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4IF48_HUMAN UniProtKB/TrEMBL
  A6H8K7 ENTREZGENE
  B2RN55 ENTREZGENE
  PCDG6_HUMAN UniProtKB/Swiss-Prot
  Q59GD1 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y5D1 ENTREZGENE
  Q9Y5G7 ENTREZGENE
UniProt Secondary A6H8K7 UniProtKB/Swiss-Prot
  B2RN55 UniProtKB/Swiss-Prot
  Q9Y5D1 UniProtKB/Swiss-Prot