PLXNA4 (plexin A4) - Rat Genome Database

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Gene: PLXNA4 (plexin A4) Homo sapiens
Analyze
Symbol: PLXNA4
Name: plexin A4
RGD ID: 1602663
HGNC Page HGNC:9102
Description: Predicted to enable semaphorin receptor activity. Predicted to be involved in several processes, including nervous system development; positive regulation of axonogenesis; and semaphorin-plexin signaling pathway. Predicted to act upstream of or within nervous system development; regulation of axon extension involved in axon guidance; and regulation of negative chemotaxis. Predicted to be located in membrane. Predicted to be part of semaphorin receptor complex. Predicted to be active in cerebellar climbing fiber to Purkinje cell synapse and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp434G0625; DKFZp434G0625PRO34003; DKFZp566O0546; FAYV2820; FLJ35026; FLJ38287; PLEXA4; plexin A4, A; plexin-A4; PLXNA4A; PLXNA4B; PRO34003
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387132,123,340 - 132,648,688 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7132,123,340 - 132,648,688 (-)EnsemblGRCh38hg38GRCh38
GRCh377131,808,099 - 132,333,447 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367131,458,631 - 131,983,987 (-)NCBINCBI36Build 36hg18NCBI36
Build 347131,269,944 - 131,370,450NCBI
Celera7126,560,410 - 127,085,672 (-)NCBICelera
Cytogenetic Map7q32.3NCBI
HuRef7126,124,398 - 126,649,403 (-)NCBIHuRef
CHM1_17131,743,547 - 132,268,963 (-)NCBICHM1_1
T2T-CHM13v2.07133,444,537 - 133,970,190 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9074931   PMID:10520995   PMID:10997877   PMID:11604131   PMID:12477932   PMID:12690205   PMID:12853948   PMID:12975309   PMID:14702039   PMID:15489334   PMID:17207965   PMID:19401682  
PMID:19909241   PMID:19913121   PMID:20379614   PMID:20628086   PMID:21832283   PMID:21873635   PMID:22424883   PMID:22566634   PMID:23362303   PMID:23509962   PMID:23593239   PMID:24204828  
PMID:24244438   PMID:24684796   PMID:24939585   PMID:25043464   PMID:25518740   PMID:25921289   PMID:26186194   PMID:26945060   PMID:26972000   PMID:27378688   PMID:28514442   PMID:29661844  
PMID:29676528   PMID:29898965   PMID:31405213   PMID:31536960   PMID:32814053   PMID:33017352   PMID:33961781   PMID:34234248   PMID:35163445   PMID:35575683   PMID:36215168   PMID:37071682  


Genomics

Comparative Map Data
PLXNA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387132,123,340 - 132,648,688 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7132,123,340 - 132,648,688 (-)EnsemblGRCh38hg38GRCh38
GRCh377131,808,099 - 132,333,447 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367131,458,631 - 131,983,987 (-)NCBINCBI36Build 36hg18NCBI36
Build 347131,269,944 - 131,370,450NCBI
Celera7126,560,410 - 127,085,672 (-)NCBICelera
Cytogenetic Map7q32.3NCBI
HuRef7126,124,398 - 126,649,403 (-)NCBIHuRef
CHM1_17131,743,547 - 132,268,963 (-)NCBICHM1_1
T2T-CHM13v2.07133,444,537 - 133,970,190 (-)NCBIT2T-CHM13v2.0
Plxna4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39632,121,478 - 32,565,127 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl632,121,203 - 32,565,127 (-)EnsemblGRCm39 Ensembl
GRCm38632,144,543 - 32,588,192 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl632,144,268 - 32,588,192 (-)EnsemblGRCm38mm10GRCm38
MGSCv37632,094,543 - 32,538,192 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36632,080,285 - 32,518,350 (-)NCBIMGSCv36mm8
Celera632,131,794 - 32,576,227 (-)NCBICelera
Cytogenetic Map6A3.3NCBI
cM Map612.9NCBI
Plxna4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8461,687,483 - 62,129,467 (-)NCBIGRCr8
mRatBN7.2460,720,246 - 61,162,206 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl460,720,255 - 61,162,206 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx465,683,455 - 66,140,923 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0461,599,261 - 62,056,703 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0460,001,623 - 60,459,091 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0459,439,489 - 59,883,637 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl459,445,767 - 59,809,321 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0459,185,891 - 59,625,441 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4459,254,319 - 59,692,187 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1459,530,019 - 59,968,678 (-)NCBI
Celera455,807,378 - 56,248,398 (-)NCBICelera
Cytogenetic Map4q22NCBI
Plxna4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541035,281,648 - 35,713,453 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541035,281,042 - 35,714,094 (+)NCBIChiLan1.0ChiLan1.0
PLXNA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26168,954,235 - 169,406,838 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1720,964,479 - 21,489,269 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07124,097,028 - 124,621,504 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17136,607,795 - 137,059,706 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7136,643,657 - 136,992,405 (-)Ensemblpanpan1.1panPan2
PLXNA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1144,683,569 - 5,110,113 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl144,680,882 - 5,103,050 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha144,344,388 - 4,770,614 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0144,419,335 - 4,847,251 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl144,421,153 - 4,842,617 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1144,622,751 - 5,050,482 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0144,368,126 - 4,795,816 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0144,510,104 - 4,938,016 (+)NCBIUU_Cfam_GSD_1.0
Plxna4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511822,892,653 - 23,318,229 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365793,092,924 - 3,444,012 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365793,025,251 - 3,449,347 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLXNA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1816,427,673 - 16,973,768 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11816,475,250 - 16,977,821 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PLXNA4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121100,779,307 - 101,223,184 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21100,781,779 - 101,158,801 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660422,152,838 - 2,604,602 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Plxna4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247833,658,835 - 4,285,638 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247833,831,320 - 4,292,594 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLXNA4
651 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3 copy number gain See cases [RCV000051072] Chr7:128747478..134018250 [GRCh38]
Chr7:128387532..133703003 [GRCh37]
Chr7:128174768..133353543 [NCBI36]
Chr7:7q32.1-33		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1 copy number loss See cases [RCV000054171] Chr7:126859732..132750936 [GRCh38]
Chr7:126499786..132435696 [GRCh37]
Chr7:126287022..132086236 [NCBI36]
Chr7:7q31.33-32.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
NM_020911.1(PLXNA4):c.4765G>A (p.Val1589Met) single nucleotide variant Malignant melanoma [RCV000067640] Chr7:132147999 [GRCh38]
Chr7:131832758 [GRCh37]
Chr7:131483298 [NCBI36]
Chr7:7q32.3		 not provided
NM_020911.1(PLXNA4):c.3418C>T (p.Pro1140Ser) single nucleotide variant Malignant melanoma [RCV000067641] Chr7:132181455 [GRCh38]
Chr7:131866214 [GRCh37]
Chr7:131516754 [NCBI36]
Chr7:7q32.3		 not provided
NM_020911.1(PLXNA4):c.3348G>A (p.Glu1116=) single nucleotide variant Malignant melanoma [RCV000067642] Chr7:132181525 [GRCh38]
Chr7:131866284 [GRCh37]
Chr7:131516824 [NCBI36]
Chr7:7q32.3		 not provided
NM_181775.3(PLXNA4):c.1562C>T (p.Ser521Phe) single nucleotide variant Malignant melanoma [RCV000067643] Chr7:132484823 [GRCh38]
Chr7:132169582 [GRCh37]
Chr7:131820122 [NCBI36]
Chr7:7q32.3		 not provided
NM_181775.3(PLXNA4):c.1417G>A (p.Gly473Arg) single nucleotide variant Malignant melanoma [RCV000067644] Chr7:132484968 [GRCh38]
Chr7:132169727 [GRCh37]
Chr7:131820267 [NCBI36]
Chr7:7q32.3		 not provided
NM_001105543.1(PLXNA4):c.1234C>T (p.Pro412Ser) single nucleotide variant Malignant melanoma [RCV000067645] Chr7:132489429 [GRCh38]
Chr7:132174188 [GRCh37]
Chr7:131824728 [NCBI36]
Chr7:7q32.3		 not provided
NM_020911.2(PLXNA4):c.693G>A (p.Ser231=) single nucleotide variant PLXNA4-related disorder [RCV003943960] Chr7:132508001 [GRCh38]
Chr7:132192760 [GRCh37]
Chr7:131843300 [NCBI36]
Chr7:7q32.3		 likely benign|not provided
NM_020911.2(PLXNA4):c.666C>T (p.Phe222=) single nucleotide variant PLXNA4-related disorder [RCV004743748] Chr7:132508028 [GRCh38]
Chr7:132192787 [GRCh37]
Chr7:131843327 [NCBI36]
Chr7:7q32.3		 likely benign|not provided
NM_001105543.1(PLXNA4):c.573G>A (p.Gly191=) single nucleotide variant Malignant melanoma [RCV000067648] Chr7:132508121 [GRCh38]
Chr7:132192880 [GRCh37]
Chr7:131843420 [NCBI36]
Chr7:7q32.3		 not provided
NM_020911.1(PLXNA4):c.4286+1512G>T single nucleotide variant Lung cancer [RCV000105612] Chr7:132166792 [GRCh38]
Chr7:131851551 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.1(PLXNA4):c.2098-3241C>A single nucleotide variant Lung cancer [RCV000105613] Chr7:132214384 [GRCh38]
Chr7:131899143 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.1(PLXNA4):c.2098-3763C>A single nucleotide variant Lung cancer [RCV000105614] Chr7:132214906 [GRCh38]
Chr7:131899665 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.1(PLXNA4):c.1372-15610T>A single nucleotide variant Lung cancer [RCV000105615] Chr7:132313832 [GRCh38]
Chr7:131998591 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_001105543.1(PLXNA4):c.1372-26892G>C single nucleotide variant Lung cancer [RCV000105616] Chr7:132412187 [GRCh38]
Chr7:132096946 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_001105543.1(PLXNA4):c.1372-27525A>T single nucleotide variant Lung cancer [RCV000105617] Chr7:132412820 [GRCh38]
Chr7:132097579 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_001105543.1(PLXNA4):c.1188+2968A>T single nucleotide variant Lung cancer [RCV000105618] Chr7:132504538 [GRCh38]
Chr7:132189297 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_181775.3(PLXNA4):c.-87+50176C>T single nucleotide variant Lung cancer [RCV000105619] Chr7:132595752 [GRCh38]
Chr7:132280511 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_181775.3(PLXNA4):c.-87+37036G>T single nucleotide variant Lung cancer [RCV000105620] Chr7:132608892 [GRCh38]
Chr7:132293651 [GRCh37]
Chr7:7q32.3		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1 copy number loss See cases [RCV000142552] Chr7:124170657..134163594 [GRCh38]
Chr7:123810711..133848346 [GRCh37]
Chr7:123597947..133498886 [NCBI36]
Chr7:7q31.33-33		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1 copy number loss See cases [RCV000448552] Chr7:131642114..139107211 [GRCh37]
Chr7:7q32.3-34		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q32.2-32.3(chr7:130295389-132435722)x3 copy number gain See cases [RCV000447779] Chr7:130295389..132435722 [GRCh37]
Chr7:7q32.2-32.3		 uncertain significance
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34		 likely pathogenic
NM_020911.2(PLXNA4):c.3477G>A (p.Thr1159=) single nucleotide variant PLXNA4-related disorder [RCV003916059]|not provided [RCV000961829] Chr7:132181396 [GRCh38]
Chr7:131866155 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.82C>T (p.Arg28Trp) single nucleotide variant not provided [RCV000947071] Chr7:132508612 [GRCh38]
Chr7:132193371 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1539T>C (p.Tyr513=) single nucleotide variant not provided [RCV000967068] Chr7:132241131 [GRCh38]
Chr7:131925890 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1270G>A (p.Val424Ile) single nucleotide variant not provided [RCV000879847] Chr7:132489393 [GRCh38]
Chr7:132174152 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.2496C>T (p.Cys832=) single nucleotide variant PLXNA4-related disorder [RCV003940712]|not provided [RCV000892340] Chr7:132202736 [GRCh38]
Chr7:131887495 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1513G>A (p.Val505Ile) single nucleotide variant not provided [RCV000892391] Chr7:132241157 [GRCh38]
Chr7:131925916 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.3335C>T (p.Thr1112Ile) single nucleotide variant not provided [RCV000948791] Chr7:132181538 [GRCh38]
Chr7:131866297 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.118T>C (p.Phe40Leu) single nucleotide variant not provided [RCV000971546] Chr7:132508576 [GRCh38]
Chr7:132193335 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.2382A>C (p.Pro794=) single nucleotide variant PLXNA4-related disorder [RCV004743204]|not provided [RCV000926377] Chr7:132203336 [GRCh38]
Chr7:131888095 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1203C>T (p.Asp401=) single nucleotide variant not provided [RCV000965761] Chr7:132489460 [GRCh38]
Chr7:132174219 [GRCh37]
Chr7:7q32.3		 benign
GRCh37/hg19 7q32.3(chr7:132310999-132385783)x1 copy number loss not provided [RCV001006014] Chr7:132310999..132385783 [GRCh37]
Chr7:7q32.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_020911.2(PLXNA4):c.4500+8C>T single nucleotide variant PLXNA4-related disorder [RCV003913292]|not provided [RCV000949941] Chr7:132164134 [GRCh38]
Chr7:131848893 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1249G>A (p.Asp417Asn) single nucleotide variant not provided [RCV000964480] Chr7:132489414 [GRCh38]
Chr7:132174173 [GRCh37]
Chr7:7q32.3		 benign
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_020911.2(PLXNA4):c.1033C>T (p.Arg345Trp) single nucleotide variant PLXNA4-related disorder [RCV003933061]|not provided [RCV000916972] Chr7:132507661 [GRCh38]
Chr7:132192420 [GRCh37]
Chr7:7q32.3		 likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_020911.2(PLXNA4):c.3567G>A (p.Pro1189=) single nucleotide variant PLXNA4-related disorder [RCV003940739]|not provided [RCV000893398] Chr7:132180658 [GRCh38]
Chr7:131865417 [GRCh37]
Chr7:7q32.3		 likely benign
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q32.3-33(chr7:131443245-133276729)x3 copy number gain not provided [RCV001006013] Chr7:131443245..133276729 [GRCh37]
Chr7:7q32.3-33		 uncertain significance
NM_020911.2(PLXNA4):c.4974C>T (p.His1658=) single nucleotide variant PLXNA4-related disorder [RCV003948360]|not provided [RCV000885332] Chr7:132146591 [GRCh38]
Chr7:131831350 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5056-5T>C single nucleotide variant not provided [RCV000905392] Chr7:132145293 [GRCh38]
Chr7:131830052 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.4497C>A (p.Thr1499=) single nucleotide variant not provided [RCV000905393] Chr7:132164145 [GRCh38]
Chr7:131848904 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.4501-4T>G single nucleotide variant not provided [RCV000892316] Chr7:132159636 [GRCh38]
Chr7:131844395 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1926C>T (p.Thr642=) single nucleotide variant PLXNA4-related disorder [RCV003895668]|not provided [RCV000932238] Chr7:132226217 [GRCh38]
Chr7:131910976 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.954G>A (p.Ala318=) single nucleotide variant PLXNA4-related disorder [RCV003975621]|not provided [RCV000890566] Chr7:132507740 [GRCh38]
Chr7:132192499 [GRCh37]
Chr7:7q32.3		 benign|likely benign
NM_020911.2(PLXNA4):c.471G>A (p.Glu157=) single nucleotide variant PLXNA4-related disorder [RCV003975622]|not provided [RCV000890567] Chr7:132508223 [GRCh38]
Chr7:132192982 [GRCh37]
Chr7:7q32.3		 benign|likely benign
NM_020911.2(PLXNA4):c.2433C>T (p.Cys811=) single nucleotide variant not provided [RCV000912557] Chr7:132202799 [GRCh38]
Chr7:131887558 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.2334C>T (p.Pro778=) single nucleotide variant not provided [RCV000912558] Chr7:132203384 [GRCh38]
Chr7:131888143 [GRCh37]
Chr7:7q32.3		 benign
GRCh37/hg19 7q32.3-33(chr7:130604326-133333388)x3 copy number gain not provided [RCV001006012] Chr7:130604326..133333388 [GRCh37]
Chr7:7q32.3-33		 uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q32.2-33(chr7:129997717-133355098)x3 copy number gain not provided [RCV001006011] Chr7:129997717..133355098 [GRCh37]
Chr7:7q32.2-33		 uncertain significance
GRCh37/hg19 7q32.2-33(chr7:129605827-133093756)x3 copy number gain not provided [RCV001258971] Chr7:129605827..133093756 [GRCh37]
Chr7:7q32.2-33		 uncertain significance
GRCh37/hg19 7q32.2-32.3(chr7:130295389-132435722) copy number gain not specified [RCV002053731] Chr7:130295389..132435722 [GRCh37]
Chr7:7q32.2-32.3		 uncertain significance
GRCh37/hg19 7q31.33-33(chr7:124103982-134693590) copy number loss not specified [RCV002053726] Chr7:124103982..134693590 [GRCh37]
Chr7:7q31.33-33		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q31.33-33(chr7:123967475-132729981) copy number loss not specified [RCV002053723] Chr7:123967475..132729981 [GRCh37]
Chr7:7q31.33-33		 pathogenic
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_020911.2(PLXNA4):c.2117G>A (p.Arg706Gln) single nucleotide variant PLXNA4-related disorder [RCV003410332]|not specified [RCV004314529] Chr7:132211124 [GRCh38]
Chr7:131895883 [GRCh37]
Chr7:7q32.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1 copy number loss not provided [RCV002473525] Chr7:129147455..132777678 [GRCh37]
Chr7:7q32.1-33		 uncertain significance
NM_020911.2(PLXNA4):c.1972G>A (p.Val658Ile) single nucleotide variant PLXNA4-related disorder [RCV003420418]|not specified [RCV004086018] Chr7:132226171 [GRCh38]
Chr7:131910930 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.562G>A (p.Ala188Thr) single nucleotide variant not specified [RCV004133045] Chr7:132508132 [GRCh38]
Chr7:132192891 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1927G>C (p.Gly643Arg) single nucleotide variant PLXNA4-related disorder [RCV004747249]|not specified [RCV004172915] Chr7:132226216 [GRCh38]
Chr7:131910975 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1101T>G (p.Ile367Met) single nucleotide variant not specified [RCV004111095] Chr7:132507593 [GRCh38]
Chr7:132192352 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1343T>C (p.Val448Ala) single nucleotide variant PLXNA4-related disorder [RCV004741522]|not specified [RCV004147459] Chr7:132489320 [GRCh38]
Chr7:132174079 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1473C>A (p.His491Gln) single nucleotide variant PLXNA4-related disorder [RCV003420533]|not specified [RCV004237515] Chr7:132298121 [GRCh38]
Chr7:131982880 [GRCh37]
Chr7:7q32.3		 likely benign|uncertain significance
NM_020911.2(PLXNA4):c.1259G>A (p.Arg420His) single nucleotide variant PLXNA4-related disorder [RCV003926753]|not specified [RCV004074176] Chr7:132489404 [GRCh38]
Chr7:132174163 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2081G>A (p.Arg694Gln) single nucleotide variant PLXNA4-related disorder [RCV003404145]|not specified [RCV004082483] Chr7:132223543 [GRCh38]
Chr7:131908302 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.620A>G (p.Asn207Ser) single nucleotide variant not specified [RCV004100840] Chr7:132508074 [GRCh38]
Chr7:132192833 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.248C>T (p.Thr83Met) single nucleotide variant PLXNA4-related disorder [RCV003900880]|not specified [RCV004076550] Chr7:132508446 [GRCh38]
Chr7:132193205 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1549G>A (p.Gly517Ser) single nucleotide variant PLXNA4-related disorder [RCV003410220]|not specified [RCV004205926] Chr7:132241121 [GRCh38]
Chr7:131925880 [GRCh37]
Chr7:7q32.3		 likely benign|uncertain significance
NM_020911.2(PLXNA4):c.922C>T (p.Arg308Cys) single nucleotide variant PLXNA4-related disorder [RCV004747260]|not specified [RCV004243967] Chr7:132507772 [GRCh38]
Chr7:132192531 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2290A>C (p.Asn764His) single nucleotide variant not specified [RCV004125151] Chr7:132210951 [GRCh38]
Chr7:131895710 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.188T>C (p.Ile63Thr) single nucleotide variant not specified [RCV004171806] Chr7:132508506 [GRCh38]
Chr7:132193265 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1775A>G (p.Asn592Ser) single nucleotide variant PLXNA4-related disorder [RCV004741519]|not specified [RCV004134248] Chr7:132227558 [GRCh38]
Chr7:131912317 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1303G>C (p.Val435Leu) single nucleotide variant PLXNA4-related disorder [RCV004744643]|not specified [RCV004085740] Chr7:132489360 [GRCh38]
Chr7:132174119 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2576G>A (p.Arg859His) single nucleotide variant PLXNA4-related disorder [RCV004741536]|not specified [RCV004205599] Chr7:132202656 [GRCh38]
Chr7:131887415 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1097G>T (p.Arg366Leu) single nucleotide variant not specified [RCV004171907] Chr7:132507597 [GRCh38]
Chr7:132192356 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1630C>T (p.Arg544Trp) single nucleotide variant PLXNA4-related disorder [RCV004741529]|not specified [RCV004170895] Chr7:132228444 [GRCh38]
Chr7:131913203 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.113G>A (p.Arg38Gln) single nucleotide variant not specified [RCV004203249] Chr7:132508581 [GRCh38]
Chr7:132193340 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.937G>A (p.Ala313Thr) single nucleotide variant not specified [RCV004168304] Chr7:132507757 [GRCh38]
Chr7:132192516 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1996G>A (p.Val666Met) single nucleotide variant not specified [RCV004237083] Chr7:132223628 [GRCh38]
Chr7:131908387 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.139C>A (p.Pro47Thr) single nucleotide variant not specified [RCV004121056] Chr7:132508555 [GRCh38]
Chr7:132193314 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1816G>T (p.Val606Leu) single nucleotide variant not specified [RCV004133932] Chr7:132227517 [GRCh38]
Chr7:131912276 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1613G>A (p.Arg538Gln) single nucleotide variant PLXNA4-related disorder [RCV003420602]|not specified [RCV004260163] Chr7:132228461 [GRCh38]
Chr7:131913220 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.583T>C (p.Tyr195His) single nucleotide variant not specified [RCV004264189] Chr7:132508111 [GRCh38]
Chr7:132192870 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2504G>A (p.Arg835His) single nucleotide variant not specified [RCV004270678] Chr7:132202728 [GRCh38]
Chr7:131887487 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1621C>T (p.Arg541Trp) single nucleotide variant not specified [RCV004283063] Chr7:132228453 [GRCh38]
Chr7:131913212 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1678C>T (p.Arg560Trp) single nucleotide variant PLXNA4-related disorder [RCV004741784]|not specified [RCV004509376] Chr7:132228396 [GRCh38]
Chr7:131913155 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1996G>T (p.Val666Leu) single nucleotide variant not specified [RCV004314392] Chr7:132223628 [GRCh38]
Chr7:131908387 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1198A>G (p.Ile400Val) single nucleotide variant not specified [RCV004361990] Chr7:132489465 [GRCh38]
Chr7:132174224 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.301G>A (p.Val101Ile) single nucleotide variant not specified [RCV004345163] Chr7:132508393 [GRCh38]
Chr7:132193152 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2788G>A (p.Val930Met) single nucleotide variant PLXNA4-related disorder [RCV003419076] Chr7:132194130 [GRCh38]
Chr7:131878889 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.95C>T (p.Pro32Leu) single nucleotide variant PLXNA4-related disorder [RCV003419209] Chr7:132508599 [GRCh38]
Chr7:132193358 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4022C>T (p.Pro1341Leu) single nucleotide variant PLXNA4-related disorder [RCV003419218] Chr7:132168568 [GRCh38]
Chr7:131853327 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5200G>A (p.Val1734Ile) single nucleotide variant PLXNA4-related disorder [RCV003394324] Chr7:132145144 [GRCh38]
Chr7:131829903 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1448G>A (p.Arg483Gln) single nucleotide variant PLXNA4-related disorder [RCV004741594]|not specified [RCV004339628] Chr7:132298146 [GRCh38]
Chr7:131982905 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2294C>T (p.Thr765Ile) single nucleotide variant PLXNA4-related disorder [RCV003408678] Chr7:132210947 [GRCh38]
Chr7:131895706 [GRCh37]
Chr7:7q32.3		 likely benign|uncertain significance
NM_020911.2(PLXNA4):c.1127G>A (p.Arg376Gln) single nucleotide variant PLXNA4-related disorder [RCV003402862] Chr7:132507567 [GRCh38]
Chr7:132192326 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2545T>G (p.Ser849Ala) single nucleotide variant PLXNA4-related disorder [RCV003399818] Chr7:132202687 [GRCh38]
Chr7:131887446 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2124C>G (p.Asp708Glu) single nucleotide variant PLXNA4-related disorder [RCV003402732] Chr7:132211117 [GRCh38]
Chr7:131895876 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1907A>T (p.Gln636Leu) single nucleotide variant PLXNA4-related disorder [RCV003399809] Chr7:132226236 [GRCh38]
Chr7:131910995 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2162C>T (p.Thr721Met) single nucleotide variant PLXNA4-related disorder [RCV003399813] Chr7:132211079 [GRCh38]
Chr7:131895838 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4067C>A (p.Ala1356Asp) single nucleotide variant PLXNA4-related disorder [RCV003399846] Chr7:132168523 [GRCh38]
Chr7:131853282 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2695G>A (p.Val899Met) single nucleotide variant PLXNA4-related disorder [RCV003419097] Chr7:132198528 [GRCh38]
Chr7:131883287 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1372-87030G>A single nucleotide variant PLXNA4-related disorder [RCV003397655] Chr7:132385252 [GRCh38]
Chr7:132070011 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1372-87033C>T single nucleotide variant PLXNA4-related disorder [RCV003939022]|not provided [RCV003434136] Chr7:132385255 [GRCh38]
Chr7:132070014 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1372-87025C>T single nucleotide variant PLXNA4-related disorder [RCV003399495] Chr7:132385247 [GRCh38]
Chr7:132070006 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1823A>G (p.Asn608Ser) single nucleotide variant PLXNA4-related disorder [RCV003399628]|not specified [RCV004654202] Chr7:132227510 [GRCh38]
Chr7:131912269 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1371+4292G>T single nucleotide variant PLXNA4-related disorder [RCV003418792] Chr7:132485000 [GRCh38]
Chr7:132169759 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3727G>A (p.Ala1243Thr) single nucleotide variant PLXNA4-related disorder [RCV003418828] Chr7:132179834 [GRCh38]
Chr7:131864593 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3689C>A (p.Pro1230Gln) single nucleotide variant PLXNA4-related disorder [RCV003418848] Chr7:132179872 [GRCh38]
Chr7:131864631 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1604C>T (p.Thr535Ile) single nucleotide variant PLXNA4-related disorder [RCV003419239] Chr7:132241066 [GRCh38]
Chr7:131925825 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2663G>A (p.Arg888His) single nucleotide variant PLXNA4-related disorder [RCV003419096] Chr7:132198560 [GRCh38]
Chr7:131883319 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3794G>A (p.Arg1265His) single nucleotide variant PLXNA4-related disorder [RCV003419107] Chr7:132179767 [GRCh38]
Chr7:131864526 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1998G>A (p.Val666=) single nucleotide variant PLXNA4-related disorder [RCV003399703] Chr7:132223626 [GRCh38]
Chr7:131908385 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3966G>T (p.Met1322Ile) single nucleotide variant PLXNA4-related disorder [RCV003402820] Chr7:132174829 [GRCh38]
Chr7:131859588 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2335G>A (p.Val779Met) single nucleotide variant PLXNA4-related disorder [RCV003429105] Chr7:132203383 [GRCh38]
Chr7:131888142 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4903C>T (p.Arg1635Cys) single nucleotide variant PLXNA4-related disorder [RCV003412018] Chr7:132146662 [GRCh38]
Chr7:131831421 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2362C>T (p.His788Tyr) single nucleotide variant PLXNA4-related disorder [RCV003405961] Chr7:132203356 [GRCh38]
Chr7:131888115 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3739G>A (p.Gly1247Ser) single nucleotide variant PLXNA4-related disorder [RCV003408790] Chr7:132179822 [GRCh38]
Chr7:131864581 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3337G>A (p.Glu1113Lys) single nucleotide variant PLXNA4-related disorder [RCV003429058] Chr7:132181536 [GRCh38]
Chr7:131866295 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3373G>A (p.Val1125Ile) single nucleotide variant PLXNA4-related disorder [RCV003412183] Chr7:132181500 [GRCh38]
Chr7:131866259 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1399G>A (p.Ala467Thr) single nucleotide variant PLXNA4-related disorder [RCV003420806] Chr7:132298195 [GRCh38]
Chr7:131982954 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1372-87071G>A single nucleotide variant PLXNA4-related disorder [RCV003412230] Chr7:132385293 [GRCh38]
Chr7:132070052 [GRCh37]
Chr7:7q32.3		 likely benign|uncertain significance
NM_020911.2(PLXNA4):c.3745C>A (p.Leu1249Ile) single nucleotide variant PLXNA4-related disorder [RCV003412243] Chr7:132179816 [GRCh38]
Chr7:131864575 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4278G>C (p.Leu1426=) single nucleotide variant PLXNA4-related disorder [RCV003412224] Chr7:132168312 [GRCh38]
Chr7:131853071 [GRCh37]
Chr7:7q32.3		 likely benign|uncertain significance
NM_020911.2(PLXNA4):c.299T>A (p.Ile100Asn) single nucleotide variant PLXNA4-related disorder [RCV003408714] Chr7:132508395 [GRCh38]
Chr7:132193154 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1131C>T (p.Gly377=) single nucleotide variant PLXNA4-related disorder [RCV003408719] Chr7:132507563 [GRCh38]
Chr7:132192322 [GRCh37]
Chr7:7q32.3		 likely benign|uncertain significance
NM_020911.2(PLXNA4):c.4819G>A (p.Ala1607Thr) single nucleotide variant PLXNA4-related disorder [RCV003408720] Chr7:132147945 [GRCh38]
Chr7:131832704 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2378A>G (p.Asn793Ser) single nucleotide variant PLXNA4-related disorder [RCV003408752] Chr7:132203340 [GRCh38]
Chr7:131888099 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.209G>A (p.Arg70Gln) single nucleotide variant PLXNA4-related disorder [RCV003408676] Chr7:132508485 [GRCh38]
Chr7:132193244 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4780G>A (p.Val1594Met) single nucleotide variant PLXNA4-related disorder [RCV003402649] Chr7:132147984 [GRCh38]
Chr7:131832743 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1646G>A (p.Arg549His) single nucleotide variant PLXNA4-related disorder [RCV003402694] Chr7:132228428 [GRCh38]
Chr7:131913187 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2743G>A (p.Val915Met) single nucleotide variant PLXNA4-related disorder [RCV003427892] Chr7:132194175 [GRCh38]
Chr7:131878934 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4201G>A (p.Ala1401Thr) single nucleotide variant not provided [RCV003423767] Chr7:132168389 [GRCh38]
Chr7:131853148 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1864C>T (p.Arg622Trp) single nucleotide variant PLXNA4-related disorder [RCV003392800] Chr7:132227469 [GRCh38]
Chr7:131912228 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4667G>A (p.Arg1556Gln) single nucleotide variant PLXNA4-related disorder [RCV003410381] Chr7:132148640 [GRCh38]
Chr7:131833399 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2253C>T (p.Pro751=) single nucleotide variant PLXNA4-related disorder [RCV003954200]|not provided [RCV003423768] Chr7:132210988 [GRCh38]
Chr7:131895747 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.904C>T (p.Arg302Cys) single nucleotide variant PLXNA4-related disorder [RCV003392859] Chr7:132507790 [GRCh38]
Chr7:132192549 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4540G>A (p.Glu1514Lys) single nucleotide variant PLXNA4-related disorder [RCV003392887] Chr7:132159593 [GRCh38]
Chr7:131844352 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1371+4322T>A single nucleotide variant PLXNA4-related disorder [RCV003410400] Chr7:132484970 [GRCh38]
Chr7:132169729 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4156G>A (p.Val1386Met) single nucleotide variant PLXNA4-related disorder [RCV003410646] Chr7:132168434 [GRCh38]
Chr7:131853193 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5539A>G (p.Met1847Val) single nucleotide variant PLXNA4-related disorder [RCV003410610] Chr7:132133099 [GRCh38]
Chr7:131817858 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1622G>A (p.Arg541Gln) single nucleotide variant PLXNA4-related disorder [RCV003410389] Chr7:132228452 [GRCh38]
Chr7:131913211 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4927C>A (p.Pro1643Thr) single nucleotide variant PLXNA4-related disorder [RCV003414562] Chr7:132146638 [GRCh38]
Chr7:131831397 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2780C>T (p.Ala927Val) single nucleotide variant PLXNA4-related disorder [RCV003414570] Chr7:132194138 [GRCh38]
Chr7:131878897 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4721T>C (p.Ile1574Thr) single nucleotide variant PLXNA4-related disorder [RCV003417087] Chr7:132148586 [GRCh38]
Chr7:131833345 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3785G>A (p.Arg1262His) single nucleotide variant PLXNA4-related disorder [RCV003418743] Chr7:132179776 [GRCh38]
Chr7:131864535 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3304G>A (p.Ala1102Thr) single nucleotide variant PLXNA4-related disorder [RCV003410606] Chr7:132181569 [GRCh38]
Chr7:131866328 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.142G>A (p.Ala48Thr) single nucleotide variant PLXNA4-related disorder [RCV003417120] Chr7:132508552 [GRCh38]
Chr7:132193311 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1915T>G (p.Ser639Ala) single nucleotide variant PLXNA4-related disorder [RCV003417022] Chr7:132226228 [GRCh38]
Chr7:131910987 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2624A>G (p.Lys875Arg) single nucleotide variant PLXNA4-related disorder [RCV003429117] Chr7:132198599 [GRCh38]
Chr7:131883358 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1372-87024G>A single nucleotide variant PLXNA4-related disorder [RCV003417150] Chr7:132385246 [GRCh38]
Chr7:132070005 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3293C>T (p.Ala1098Val) single nucleotide variant PLXNA4-related disorder [RCV003402977] Chr7:132181580 [GRCh38]
Chr7:131866339 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2011C>T (p.Arg671Cys) single nucleotide variant PLXNA4-related disorder [RCV003427983] Chr7:132223613 [GRCh38]
Chr7:131908372 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.896G>A (p.Gly299Asp) single nucleotide variant PLXNA4-related disorder [RCV003405953] Chr7:132507798 [GRCh38]
Chr7:132192557 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4633C>T (p.Arg1545Trp) single nucleotide variant PLXNA4-related disorder [RCV003402745] Chr7:132159500 [GRCh38]
Chr7:131844259 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.692C>T (p.Ser231Leu) single nucleotide variant PLXNA4-related disorder [RCV003404324] Chr7:132508002 [GRCh38]
Chr7:132192761 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.280A>G (p.Lys94Glu) single nucleotide variant PLXNA4-related disorder [RCV003420860] Chr7:132508414 [GRCh38]
Chr7:132193173 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4676G>A (p.Ser1559Asn) single nucleotide variant PLXNA4-related disorder [RCV003402849] Chr7:132148631 [GRCh38]
Chr7:131833390 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2813G>A (p.Arg938Gln) single nucleotide variant PLXNA4-related disorder [RCV003414079] Chr7:132194105 [GRCh38]
Chr7:131878864 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5611G>A (p.Asp1871Asn) single nucleotide variant PLXNA4-related disorder [RCV003400486] Chr7:132130553 [GRCh38]
Chr7:131815312 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4739G>A (p.Arg1580Gln) single nucleotide variant PLXNA4-related disorder [RCV003420973] Chr7:132148568 [GRCh38]
Chr7:131833327 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.220C>G (p.Leu74Val) single nucleotide variant PLXNA4-related disorder [RCV003402244] Chr7:132508474 [GRCh38]
Chr7:132193233 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4870A>G (p.Met1624Val) single nucleotide variant PLXNA4-related disorder [RCV003393234] Chr7:132146695 [GRCh38]
Chr7:131831454 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2888G>A (p.Arg963Gln) single nucleotide variant PLXNA4-related disorder [RCV003418781] Chr7:132187576 [GRCh38]
Chr7:131872335 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1605T>A (p.Thr535=) single nucleotide variant PLXNA4-related disorder [RCV004741783]|not specified [RCV004509375] Chr7:132228469 [GRCh38]
Chr7:131913228 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.560C>T (p.Thr187Met) single nucleotide variant not specified [RCV004509379] Chr7:132508134 [GRCh38]
Chr7:132192893 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.229G>C (p.Asp77His) single nucleotide variant not specified [RCV004509378] Chr7:132508465 [GRCh38]
Chr7:132193224 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1415C>T (p.Thr472Met) single nucleotide variant not specified [RCV004509374] Chr7:132298179 [GRCh38]
Chr7:131982938 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1371+4285G>A single nucleotide variant PLXNA4-related disorder [RCV003939601] Chr7:132485007 [GRCh38]
Chr7:132169766 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2349C>T (p.Val783=) single nucleotide variant PLXNA4-related disorder [RCV003892240] Chr7:132203369 [GRCh38]
Chr7:131888128 [GRCh37]
Chr7:7q32.3		 likely benign
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 copy number loss not specified [RCV003986721] Chr7:120582003..137699953 [GRCh37]
Chr7:7q31.31-33		 pathogenic
NM_020911.2(PLXNA4):c.3112G>C (p.Glu1038Gln) single nucleotide variant PLXNA4-related disorder [RCV003954800] Chr7:132185345 [GRCh38]
Chr7:131870104 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4425C>T (p.Asp1475=) single nucleotide variant PLXNA4-related disorder [RCV003954889] Chr7:132164217 [GRCh38]
Chr7:131848976 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4321A>C single nucleotide variant PLXNA4-related disorder [RCV003954906] Chr7:132484971 [GRCh38]
Chr7:132169730 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5352G>T (p.Thr1784=) single nucleotide variant PLXNA4-related disorder [RCV003954880] Chr7:132140685 [GRCh38]
Chr7:131825444 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4065C>T (p.Phe1355=) single nucleotide variant PLXNA4-related disorder [RCV003954924] Chr7:132168525 [GRCh38]
Chr7:131853284 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3384G>C (p.Leu1128=) single nucleotide variant PLXNA4-related disorder [RCV003893600] Chr7:132181489 [GRCh38]
Chr7:131866248 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5649A>C (p.Leu1883=) single nucleotide variant PLXNA4-related disorder [RCV003899680] Chr7:132130515 [GRCh38]
Chr7:131815274 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.750T>C (p.Ser250=) single nucleotide variant PLXNA4-related disorder [RCV003893982] Chr7:132507944 [GRCh38]
Chr7:132192703 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.264G>A (p.Pro88=) single nucleotide variant PLXNA4-related disorder [RCV003949615] Chr7:132508430 [GRCh38]
Chr7:132193189 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5513G>A (p.Arg1838Gln) single nucleotide variant PLXNA4-related disorder [RCV003894348] Chr7:132133125 [GRCh38]
Chr7:131817884 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1938C>T (p.Phe646=) single nucleotide variant PLXNA4-related disorder [RCV003966877] Chr7:132226205 [GRCh38]
Chr7:131910964 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5475C>T (p.Ser1825=) single nucleotide variant PLXNA4-related disorder [RCV003971971] Chr7:132133163 [GRCh38]
Chr7:131817922 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5590-5C>T single nucleotide variant PLXNA4-related disorder [RCV003967103] Chr7:132130579 [GRCh38]
Chr7:131815338 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3510G>A (p.Pro1170=) single nucleotide variant PLXNA4-related disorder [RCV003901549] Chr7:132180715 [GRCh38]
Chr7:131865474 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.630G>A (p.Ala210=) single nucleotide variant PLXNA4-related disorder [RCV003901673] Chr7:132508064 [GRCh38]
Chr7:132192823 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1372-87032G>A single nucleotide variant PLXNA4-related disorder [RCV003896477] Chr7:132385254 [GRCh38]
Chr7:132070013 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2277C>T (p.Ser759=) single nucleotide variant PLXNA4-related disorder [RCV003951379] Chr7:132210964 [GRCh38]
Chr7:131895723 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1372-87073A>G single nucleotide variant PLXNA4-related disorder [RCV003967385] Chr7:132385295 [GRCh38]
Chr7:132070054 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.5304C>T (p.Asp1768=) single nucleotide variant PLXNA4-related disorder [RCV003952194] Chr7:132140733 [GRCh38]
Chr7:131825492 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3158+7G>A single nucleotide variant PLXNA4-related disorder [RCV003896912] Chr7:132185292 [GRCh38]
Chr7:131870051 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1573C>A (p.Pro525Thr) single nucleotide variant PLXNA4-related disorder [RCV003904012] Chr7:132241097 [GRCh38]
Chr7:131925856 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1371+4349C>A single nucleotide variant PLXNA4-related disorder [RCV003903991] Chr7:132484943 [GRCh38]
Chr7:132169702 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4331A>C single nucleotide variant PLXNA4-related disorder [RCV003919631] Chr7:132484961 [GRCh38]
Chr7:132169720 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1815C>G (p.Val605=) single nucleotide variant PLXNA4-related disorder [RCV003982163] Chr7:132227518 [GRCh38]
Chr7:131912277 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.3297C>T (p.Pro1099=) single nucleotide variant PLXNA4-related disorder [RCV003893643] Chr7:132181576 [GRCh38]
Chr7:131866335 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.642C>T (p.Phe214=) single nucleotide variant PLXNA4-related disorder [RCV003893732] Chr7:132508052 [GRCh38]
Chr7:132192811 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3537G>A (p.Leu1179=) single nucleotide variant PLXNA4-related disorder [RCV003899696] Chr7:132180688 [GRCh38]
Chr7:131865447 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2370C>T (p.Asn790=) single nucleotide variant PLXNA4-related disorder [RCV003893835] Chr7:132203348 [GRCh38]
Chr7:131888107 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4458C>T (p.Ser1486=) single nucleotide variant PLXNA4-related disorder [RCV003956786] Chr7:132164184 [GRCh38]
Chr7:131848943 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.649G>A (p.Val217Ile) single nucleotide variant PLXNA4-related disorder [RCV003961359] Chr7:132508045 [GRCh38]
Chr7:132192804 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3492+3G>A single nucleotide variant PLXNA4-related disorder [RCV003894537] Chr7:132181378 [GRCh38]
Chr7:131866137 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1097G>A (p.Arg366His) single nucleotide variant PLXNA4-related disorder [RCV003894656] Chr7:132507597 [GRCh38]
Chr7:132192356 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2299-7G>T single nucleotide variant PLXNA4-related disorder [RCV003914013] Chr7:132203426 [GRCh38]
Chr7:131888185 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1140G>A (p.Thr380=) single nucleotide variant PLXNA4-related disorder [RCV003983495] Chr7:132507554 [GRCh38]
Chr7:132192313 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.840C>T (p.Leu280=) single nucleotide variant PLXNA4-related disorder [RCV003983497] Chr7:132507854 [GRCh38]
Chr7:132192613 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3644G>A (p.Arg1215His) single nucleotide variant PLXNA4-related disorder [RCV003944146] Chr7:132179917 [GRCh38]
Chr7:131864676 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1578C>T (p.His526=) single nucleotide variant PLXNA4-related disorder [RCV003901450] Chr7:132241092 [GRCh38]
Chr7:131925851 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.112C>T (p.Arg38Trp) single nucleotide variant PLXNA4-related disorder [RCV003983645] Chr7:132508582 [GRCh38]
Chr7:132193341 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2812C>T (p.Arg938Trp) single nucleotide variant PLXNA4-related disorder [RCV003983650] Chr7:132194106 [GRCh38]
Chr7:131878865 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5670G>A (p.Met1890Ile) single nucleotide variant PLXNA4-related disorder [RCV003983675] Chr7:132130494 [GRCh38]
Chr7:131815253 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1012G>A (p.Val338Ile) single nucleotide variant PLXNA4-related disorder [RCV003901945]|not specified [RCV004369746] Chr7:132507682 [GRCh38]
Chr7:132192441 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4737G>A (p.Lys1579=) single nucleotide variant PLXNA4-related disorder [RCV003983707] Chr7:132148570 [GRCh38]
Chr7:131833329 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3319C>T (p.His1107Tyr) single nucleotide variant PLXNA4-related disorder [RCV003958898] Chr7:132181554 [GRCh38]
Chr7:131866313 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3493-7T>C single nucleotide variant PLXNA4-related disorder [RCV003962202] Chr7:132180739 [GRCh38]
Chr7:131865498 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1742C>T (p.Thr581Met) single nucleotide variant PLXNA4-related disorder [RCV003962316] Chr7:132227591 [GRCh38]
Chr7:131912350 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5199C>T (p.His1733=) single nucleotide variant PLXNA4-related disorder [RCV003958994] Chr7:132145145 [GRCh38]
Chr7:131829904 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.228C>T (p.Ser76=) single nucleotide variant PLXNA4-related disorder [RCV003981205] Chr7:132508466 [GRCh38]
Chr7:132193225 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.504A>G (p.Ser168=) single nucleotide variant PLXNA4-related disorder [RCV003984559] Chr7:132508190 [GRCh38]
Chr7:132192949 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.4040G>A (p.Arg1347His) single nucleotide variant PLXNA4-related disorder [RCV003959294] Chr7:132168550 [GRCh38]
Chr7:131853309 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1604+10A>C single nucleotide variant PLXNA4-related disorder [RCV003904492] Chr7:132241056 [GRCh38]
Chr7:131925815 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.78C>T (p.Leu26=) single nucleotide variant PLXNA4-related disorder [RCV003923948] Chr7:132508616 [GRCh38]
Chr7:132193375 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5226-5C>T single nucleotide variant PLXNA4-related disorder [RCV003969033] Chr7:132140816 [GRCh38]
Chr7:131825575 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2298+8G>A single nucleotide variant PLXNA4-related disorder [RCV003901903] Chr7:132210935 [GRCh38]
Chr7:131895694 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2601A>G (p.Thr867=) single nucleotide variant PLXNA4-related disorder [RCV003964599] Chr7:132198622 [GRCh38]
Chr7:131883381 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5226-4G>A single nucleotide variant PLXNA4-related disorder [RCV003954812] Chr7:132140815 [GRCh38]
Chr7:131825574 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4200C>T (p.Tyr1400=) single nucleotide variant PLXNA4-related disorder [RCV003954890] Chr7:132168390 [GRCh38]
Chr7:131853149 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.498C>T (p.Ser166=) single nucleotide variant PLXNA4-related disorder [RCV003898950] Chr7:132508196 [GRCh38]
Chr7:132192955 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5590-4G>A single nucleotide variant PLXNA4-related disorder [RCV003966959] Chr7:132130578 [GRCh38]
Chr7:131815337 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.960C>T (p.Ala320=) single nucleotide variant PLXNA4-related disorder [RCV003921479] Chr7:132507734 [GRCh38]
Chr7:132192493 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4434G>A (p.Thr1478=) single nucleotide variant PLXNA4-related disorder [RCV003966979] Chr7:132164208 [GRCh38]
Chr7:131848967 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3126C>T (p.Ile1042=) single nucleotide variant PLXNA4-related disorder [RCV003969579] Chr7:132185331 [GRCh38]
Chr7:131870090 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5265G>A (p.Pro1755=) single nucleotide variant PLXNA4-related disorder [RCV003969848] Chr7:132140772 [GRCh38]
Chr7:131825531 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1416G>A (p.Thr472=) single nucleotide variant PLXNA4-related disorder [RCV003902272] Chr7:132298178 [GRCh38]
Chr7:131982937 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3426G>A (p.Pro1142=) single nucleotide variant PLXNA4-related disorder [RCV003979012] Chr7:132181447 [GRCh38]
Chr7:131866206 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.3492+9A>T single nucleotide variant PLXNA4-related disorder [RCV003919839] Chr7:132181372 [GRCh38]
Chr7:131866131 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+8T>C single nucleotide variant PLXNA4-related disorder [RCV003957343] Chr7:132489284 [GRCh38]
Chr7:132174043 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2739-8C>T single nucleotide variant PLXNA4-related disorder [RCV003921799] Chr7:132194187 [GRCh38]
Chr7:131878946 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2395+8A>T single nucleotide variant PLXNA4-related disorder [RCV003966838] Chr7:132203315 [GRCh38]
Chr7:131888074 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3303C>T (p.Leu1101=) single nucleotide variant PLXNA4-related disorder [RCV003966846] Chr7:132181570 [GRCh38]
Chr7:131866329 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2907G>A (p.Gly969=) single nucleotide variant PLXNA4-related disorder [RCV003899553] Chr7:132187557 [GRCh38]
Chr7:131872316 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2163G>A (p.Thr721=) single nucleotide variant PLXNA4-related disorder [RCV003893657] Chr7:132211078 [GRCh38]
Chr7:131895837 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.645G>A (p.Ala215=) single nucleotide variant PLXNA4-related disorder [RCV003956849] Chr7:132508049 [GRCh38]
Chr7:132192808 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3178G>A (p.Val1060Ile) single nucleotide variant PLXNA4-related disorder [RCV003924697] Chr7:132182171 [GRCh38]
Chr7:131866930 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2463C>T (p.Phe821=) single nucleotide variant PLXNA4-related disorder [RCV003964114] Chr7:132202769 [GRCh38]
Chr7:131887528 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2395+10_2395+23del deletion PLXNA4-related disorder [RCV003979335] Chr7:132203300..132203313 [GRCh38]
Chr7:131888059..131888072 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1971C>T (p.Ser657=) single nucleotide variant PLXNA4-related disorder [RCV003961875] Chr7:132226172 [GRCh38]
Chr7:131910931 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3511C>T (p.Pro1171Ser) single nucleotide variant PLXNA4-related disorder [RCV003937198] Chr7:132180714 [GRCh38]
Chr7:131865473 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5636T>G (p.Leu1879Arg) single nucleotide variant PLXNA4-related disorder [RCV003937200] Chr7:132130528 [GRCh38]
Chr7:131815287 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3492+5A>T single nucleotide variant PLXNA4-related disorder [RCV003907298] Chr7:132181376 [GRCh38]
Chr7:131866135 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.925C>T (p.Leu309=) single nucleotide variant PLXNA4-related disorder [RCV003894245] Chr7:132507769 [GRCh38]
Chr7:132192528 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.141C>T (p.Pro47=) single nucleotide variant PLXNA4-related disorder [RCV003921464] Chr7:132508553 [GRCh38]
Chr7:132193312 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4431G>A single nucleotide variant PLXNA4-related disorder [RCV003957158] Chr7:132484861 [GRCh38]
Chr7:132169620 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.923G>A (p.Arg308His) single nucleotide variant PLXNA4-related disorder [RCV003921625] Chr7:132507771 [GRCh38]
Chr7:132192530 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1188G>A (p.Ala396=) single nucleotide variant PLXNA4-related disorder [RCV003896747] Chr7:132507506 [GRCh38]
Chr7:132192265 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3663C>T (p.Tyr1221=) single nucleotide variant PLXNA4-related disorder [RCV003931944] Chr7:132179898 [GRCh38]
Chr7:131864657 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2655G>A (p.Leu885=) single nucleotide variant PLXNA4-related disorder [RCV003949685] Chr7:132198568 [GRCh38]
Chr7:131883327 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2739-10C>T single nucleotide variant PLXNA4-related disorder [RCV003943855] Chr7:132194189 [GRCh38]
Chr7:131878948 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4302G>C single nucleotide variant PLXNA4-related disorder [RCV003914241] Chr7:132484990 [GRCh38]
Chr7:132169749 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1008C>T (p.Phe336=) single nucleotide variant PLXNA4-related disorder [RCV003957252] Chr7:132507686 [GRCh38]
Chr7:132192445 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1372-87055T>C single nucleotide variant PLXNA4-related disorder [RCV003921792] Chr7:132385277 [GRCh38]
Chr7:132070036 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3729A>G (p.Ala1243=) single nucleotide variant PLXNA4-related disorder [RCV003974516] Chr7:132179832 [GRCh38]
Chr7:131864591 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.4031G>A (p.Arg1344Gln) single nucleotide variant PLXNA4-related disorder [RCV003962268] Chr7:132168559 [GRCh38]
Chr7:131853318 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.83G>A (p.Arg28Gln) single nucleotide variant PLXNA4-related disorder [RCV003962267] Chr7:132508611 [GRCh38]
Chr7:132193370 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1372-86990G>A single nucleotide variant PLXNA4-related disorder [RCV003949866] Chr7:132385212 [GRCh38]
Chr7:132069971 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3930C>T (p.Ala1310=) single nucleotide variant PLXNA4-related disorder [RCV003914072] Chr7:132174865 [GRCh38]
Chr7:131859624 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2943C>T (p.Ala981=) single nucleotide variant PLXNA4-related disorder [RCV003957351] Chr7:132187521 [GRCh38]
Chr7:131872280 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5574C>A (p.Gly1858=) single nucleotide variant PLXNA4-related disorder [RCV003929758] Chr7:132133064 [GRCh38]
Chr7:131817823 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2901C>T (p.Ser967=) single nucleotide variant PLXNA4-related disorder [RCV003897044] Chr7:132187563 [GRCh38]
Chr7:131872322 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1372-87013G>A single nucleotide variant PLXNA4-related disorder [RCV003959114] Chr7:132385235 [GRCh38]
Chr7:132069994 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3882C>T (p.Ala1294=) single nucleotide variant PLXNA4-related disorder [RCV003966990] Chr7:132174913 [GRCh38]
Chr7:131859672 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1372-87037C>T single nucleotide variant PLXNA4-related disorder [RCV003967105] Chr7:132385259 [GRCh38]
Chr7:132070018 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2136G>A (p.Val712=) single nucleotide variant PLXNA4-related disorder [RCV003967118] Chr7:132211105 [GRCh38]
Chr7:131895864 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4776T>C (p.Gly1592=) single nucleotide variant PLXNA4-related disorder [RCV003902329] Chr7:132147988 [GRCh38]
Chr7:131832747 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3528C>T (p.Asn1176=) single nucleotide variant PLXNA4-related disorder [RCV003922110]|not provided [RCV004707839] Chr7:132180697 [GRCh38]
Chr7:131865456 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5608C>T (p.His1870Tyr) single nucleotide variant PLXNA4-related disorder [RCV003929813] Chr7:132130556 [GRCh38]
Chr7:131815315 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1728+9C>T single nucleotide variant PLXNA4-related disorder [RCV003904319] Chr7:132228337 [GRCh38]
Chr7:131913096 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.*5C>T single nucleotide variant PLXNA4-related disorder [RCV003904452] Chr7:132130474 [GRCh38]
Chr7:131815233 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2635C>A (p.Arg879=) single nucleotide variant PLXNA4-related disorder [RCV003904521] Chr7:132198588 [GRCh38]
Chr7:131883347 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2139C>T (p.Pro713=) single nucleotide variant PLXNA4-related disorder [RCV003904700] Chr7:132211102 [GRCh38]
Chr7:131895861 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1983-6G>T single nucleotide variant PLXNA4-related disorder [RCV003896376] Chr7:132223647 [GRCh38]
Chr7:131908406 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4144G>A (p.Asp1382Asn) single nucleotide variant PLXNA4-related disorder [RCV003951755] Chr7:132168446 [GRCh38]
Chr7:131853205 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3693C>A (p.Asp1231Glu) single nucleotide variant PLXNA4-related disorder [RCV003922211] Chr7:132179868 [GRCh38]
Chr7:131864627 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5547A>G (p.Ala1849=) single nucleotide variant PLXNA4-related disorder [RCV003979629] Chr7:132133091 [GRCh38]
Chr7:131817850 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.300C>T (p.Ile100=) single nucleotide variant PLXNA4-related disorder [RCV003904752] Chr7:132508394 [GRCh38]
Chr7:132193153 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1108C>A (p.Arg370=) single nucleotide variant PLXNA4-related disorder [RCV003969446] Chr7:132507586 [GRCh38]
Chr7:132192345 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.804C>A (p.Gly268=) single nucleotide variant PLXNA4-related disorder [RCV003933849] Chr7:132507890 [GRCh38]
Chr7:132192649 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.441C>T (p.Phe147=) single nucleotide variant PLXNA4-related disorder [RCV003952267] Chr7:132508253 [GRCh38]
Chr7:132193012 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1015T>A (p.Phe339Ile) single nucleotide variant PLXNA4-related disorder [RCV003962321] Chr7:132507679 [GRCh38]
Chr7:132192438 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3876C>A (p.Ala1292=) single nucleotide variant PLXNA4-related disorder [RCV003984595] Chr7:132174919 [GRCh38]
Chr7:131859678 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.4500+6C>T single nucleotide variant PLXNA4-related disorder [RCV003966840] Chr7:132164136 [GRCh38]
Chr7:131848895 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4359T>C single nucleotide variant PLXNA4-related disorder [RCV003969610] Chr7:132484933 [GRCh38]
Chr7:132169692 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3795C>T (p.Arg1265=) single nucleotide variant PLXNA4-related disorder [RCV003981520] Chr7:132179766 [GRCh38]
Chr7:131864525 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3177C>T (p.Ala1059=) single nucleotide variant PLXNA4-related disorder [RCV003964238] Chr7:132182172 [GRCh38]
Chr7:131866931 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3875-7G>A single nucleotide variant PLXNA4-related disorder [RCV003969526] Chr7:132174927 [GRCh38]
Chr7:131859686 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3702C>T (p.Leu1234=) single nucleotide variant PLXNA4-related disorder [RCV003898961] Chr7:132179859 [GRCh38]
Chr7:131864618 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1707C>T (p.Ser569=) single nucleotide variant PLXNA4-related disorder [RCV003969704] Chr7:132228367 [GRCh38]
Chr7:131913126 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4293G>A (p.Glu1431=) single nucleotide variant PLXNA4-related disorder [RCV003899006] Chr7:132165194 [GRCh38]
Chr7:131849953 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2257C>T (p.Leu753=) single nucleotide variant PLXNA4-related disorder [RCV003933966] Chr7:132210984 [GRCh38]
Chr7:131895743 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5564C>T (p.Ser1855Phe) single nucleotide variant PLXNA4-related disorder [RCV003952111] Chr7:132133074 [GRCh38]
Chr7:131817833 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3760G>A (p.Val1254Met) single nucleotide variant PLXNA4-related disorder [RCV003952112] Chr7:132179801 [GRCh38]
Chr7:131864560 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.119T>C (p.Phe40Ser) single nucleotide variant PLXNA4-related disorder [RCV003958938] Chr7:132508575 [GRCh38]
Chr7:132193334 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2719G>A (p.Gly907Ser) single nucleotide variant PLXNA4-related disorder [RCV003931791] Chr7:132198504 [GRCh38]
Chr7:131883263 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1347C>T (p.Gly449=) single nucleotide variant PLXNA4-related disorder [RCV003898917] Chr7:132489316 [GRCh38]
Chr7:132174075 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5363G>A (p.Arg1788Gln) single nucleotide variant PLXNA4-related disorder [RCV003898957] Chr7:132140674 [GRCh38]
Chr7:131825433 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.811A>C (p.Thr271Pro) single nucleotide variant PLXNA4-related disorder [RCV003898960] Chr7:132507883 [GRCh38]
Chr7:132192642 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3123C>T (p.Thr1041=) single nucleotide variant PLXNA4-related disorder [RCV003969691] Chr7:132185334 [GRCh38]
Chr7:131870093 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5196G>A (p.Pro1732=) single nucleotide variant PLXNA4-related disorder [RCV003954799] Chr7:132145148 [GRCh38]
Chr7:131829907 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.80C>A (p.Thr27Asn) single nucleotide variant PLXNA4-related disorder [RCV003959621] Chr7:132508614 [GRCh38]
Chr7:132193373 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3579C>T (p.Thr1193=) single nucleotide variant PLXNA4-related disorder [RCV003959639] Chr7:132180646 [GRCh38]
Chr7:131865405 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2139C>A (p.Pro713=) single nucleotide variant PLXNA4-related disorder [RCV003959655] Chr7:132211102 [GRCh38]
Chr7:131895861 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2246G>A (p.Arg749Gln) single nucleotide variant PLXNA4-related disorder [RCV003974242] Chr7:132210995 [GRCh38]
Chr7:131895754 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3738C>T (p.Gly1246=) single nucleotide variant PLXNA4-related disorder [RCV003904431] Chr7:132179823 [GRCh38]
Chr7:131864582 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3372C>T (p.Asn1124=) single nucleotide variant PLXNA4-related disorder [RCV003959397] Chr7:132181501 [GRCh38]
Chr7:131866260 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4975G>A (p.Glu1659Lys) single nucleotide variant not provided [RCV003887808] Chr7:132146590 [GRCh38]
Chr7:131831349 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.267C>T (p.Asp89=) single nucleotide variant PLXNA4-related disorder [RCV003934381] Chr7:132508427 [GRCh38]
Chr7:132193186 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1608C>T (p.Cys536=) single nucleotide variant PLXNA4-related disorder [RCV003904393] Chr7:132228466 [GRCh38]
Chr7:131913225 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3345C>T (p.Pro1115=) single nucleotide variant PLXNA4-related disorder [RCV003904669] Chr7:132181528 [GRCh38]
Chr7:131866287 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3705C>T (p.Ser1235=) single nucleotide variant PLXNA4-related disorder [RCV003904726] Chr7:132179856 [GRCh38]
Chr7:131864615 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2490C>A (p.Gly830=) single nucleotide variant PLXNA4-related disorder [RCV003976419] Chr7:132202742 [GRCh38]
Chr7:131887501 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4539C>T (p.Pro1513=) single nucleotide variant PLXNA4-related disorder [RCV003949249] Chr7:132159594 [GRCh38]
Chr7:131844353 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3108T>C (p.Tyr1036=) single nucleotide variant PLXNA4-related disorder [RCV003982011] Chr7:132185349 [GRCh38]
Chr7:131870108 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1248C>T (p.Ser416=) single nucleotide variant PLXNA4-related disorder [RCV003894126] Chr7:132489415 [GRCh38]
Chr7:132174174 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2587-3C>A single nucleotide variant PLXNA4-related disorder [RCV003959611] Chr7:132198639 [GRCh38]
Chr7:131883398 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2586+7C>T single nucleotide variant PLXNA4-related disorder [RCV003913857] Chr7:132202639 [GRCh38]
Chr7:131887398 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4749A>G (p.Thr1583=) single nucleotide variant PLXNA4-related disorder [RCV003971870] Chr7:132148558 [GRCh38]
Chr7:131833317 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5590-10C>T single nucleotide variant PLXNA4-related disorder [RCV003982440] Chr7:132130584 [GRCh38]
Chr7:131815343 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.867C>T (p.Ala289=) single nucleotide variant PLXNA4-related disorder [RCV003894600] Chr7:132507827 [GRCh38]
Chr7:132192586 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3875-8C>T single nucleotide variant PLXNA4-related disorder [RCV003971972] Chr7:132174928 [GRCh38]
Chr7:131859687 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.953C>T (p.Ala318Val) single nucleotide variant PLXNA4-related disorder [RCV003934526] Chr7:132507741 [GRCh38]
Chr7:132192500 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3294G>T (p.Ala1098=) single nucleotide variant PLXNA4-related disorder [RCV003968961] Chr7:132181579 [GRCh38]
Chr7:131866338 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.96G>A (p.Pro32=) single nucleotide variant PLXNA4-related disorder [RCV003946844] Chr7:132508598 [GRCh38]
Chr7:132193357 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.-10C>T single nucleotide variant PLXNA4-related disorder [RCV003944253] Chr7:132508703 [GRCh38]
Chr7:132193462 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1188+7A>G single nucleotide variant PLXNA4-related disorder [RCV003972008] Chr7:132507499 [GRCh38]
Chr7:132192258 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1314T>C (p.Tyr438=) single nucleotide variant PLXNA4-related disorder [RCV003921417] Chr7:132489349 [GRCh38]
Chr7:132174108 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5613T>C (p.Asp1871=) single nucleotide variant PLXNA4-related disorder [RCV003982508] Chr7:132130551 [GRCh38]
Chr7:131815310 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1398C>A (p.Asn466Lys) single nucleotide variant PLXNA4-related disorder [RCV003944216] Chr7:132298196 [GRCh38]
Chr7:131982955 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2799C>T (p.Cys933=) single nucleotide variant PLXNA4-related disorder [RCV003966945] Chr7:132194119 [GRCh38]
Chr7:131878878 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1605T>G (p.Thr535=) single nucleotide variant PLXNA4-related disorder [RCV003901571] Chr7:132228469 [GRCh38]
Chr7:131913228 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1420C>A (p.Gln474Lys) single nucleotide variant PLXNA4-related disorder [RCV003901870] Chr7:132298174 [GRCh38]
Chr7:131982933 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4230C>T (p.Ala1410=) single nucleotide variant PLXNA4-related disorder [RCV003912323] Chr7:132168360 [GRCh38]
Chr7:131853119 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2485C>T (p.Pro829Ser) single nucleotide variant PLXNA4-related disorder [RCV003893677] Chr7:132202747 [GRCh38]
Chr7:131887506 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5490C>T (p.Asn1830=) single nucleotide variant PLXNA4-related disorder [RCV003899461] Chr7:132133148 [GRCh38]
Chr7:131817907 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1299G>A (p.Thr433=) single nucleotide variant PLXNA4-related disorder [RCV003893675] Chr7:132489364 [GRCh38]
Chr7:132174123 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.492C>T (p.Asn164=) single nucleotide variant PLXNA4-related disorder [RCV003899868] Chr7:132508202 [GRCh38]
Chr7:132192961 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1473C>T (p.His491=) single nucleotide variant PLXNA4-related disorder [RCV003893915] Chr7:132298121 [GRCh38]
Chr7:131982880 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4286+10C>T single nucleotide variant PLXNA4-related disorder [RCV003949467] Chr7:132168294 [GRCh38]
Chr7:131853053 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4739G>T (p.Arg1580Leu) single nucleotide variant PLXNA4-related disorder [RCV003971944] Chr7:132148568 [GRCh38]
Chr7:131833327 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4437C>T (p.Gly1479=) single nucleotide variant PLXNA4-related disorder [RCV003971956] Chr7:132164205 [GRCh38]
Chr7:131848964 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2670C>T (p.Ile890=) single nucleotide variant PLXNA4-related disorder [RCV003966923] Chr7:132198553 [GRCh38]
Chr7:131883312 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.201C>T (p.Ala67=) single nucleotide variant PLXNA4-related disorder [RCV003901521] Chr7:132508493 [GRCh38]
Chr7:132193252 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4779C>T (p.Ser1593=) single nucleotide variant PLXNA4-related disorder [RCV003901865] Chr7:132147985 [GRCh38]
Chr7:131832744 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.369G>A (p.Lys123=) single nucleotide variant PLXNA4-related disorder [RCV003901964] Chr7:132508325 [GRCh38]
Chr7:132193084 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1309G>A (p.Ala437Thr) single nucleotide variant PLXNA4-related disorder [RCV003896469] Chr7:132489354 [GRCh38]
Chr7:132174113 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2952C>T (p.Asn984=) single nucleotide variant PLXNA4-related disorder [RCV003967172] Chr7:132187512 [GRCh38]
Chr7:131872271 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2094C>T (p.Pro698=) single nucleotide variant PLXNA4-related disorder [RCV003902217] Chr7:132223530 [GRCh38]
Chr7:131908289 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.126A>G (p.Thr42=) single nucleotide variant PLXNA4-related disorder [RCV003902218] Chr7:132508568 [GRCh38]
Chr7:132193327 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2211C>T (p.Tyr737=) single nucleotide variant PLXNA4-related disorder [RCV003979669] Chr7:132211030 [GRCh38]
Chr7:131895789 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3711C>T (p.Pro1237=) single nucleotide variant PLXNA4-related disorder [RCV003944765] Chr7:132179850 [GRCh38]
Chr7:131864609 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2360G>A (p.Gly787Glu) single nucleotide variant PLXNA4-related disorder [RCV003896974] Chr7:132203358 [GRCh38]
Chr7:131888117 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1158C>T (p.Leu386=) single nucleotide variant PLXNA4-related disorder [RCV003974602] Chr7:132507536 [GRCh38]
Chr7:132192295 [GRCh37]
Chr7:7q32.3		 benign
NM_020911.2(PLXNA4):c.1708G>A (p.Val570Ile) single nucleotide variant not specified [RCV004509377] Chr7:132228366 [GRCh38]
Chr7:131913125 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.339T>C (p.Asn113=) single nucleotide variant PLXNA4-related disorder [RCV003904358] Chr7:132508355 [GRCh38]
Chr7:132193114 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.*6G>A single nucleotide variant PLXNA4-related disorder [RCV003904359] Chr7:132130473 [GRCh38]
Chr7:131815232 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4980C>T (p.His1660=) single nucleotide variant PLXNA4-related disorder [RCV003897208] Chr7:132146585 [GRCh38]
Chr7:131831344 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4176C>T (p.Thr1392=) single nucleotide variant PLXNA4-related disorder [RCV003897423] Chr7:132168414 [GRCh38]
Chr7:131853173 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.780A>T (p.Gln260His) single nucleotide variant not specified [RCV004651458] Chr7:132507914 [GRCh38]
Chr7:132192673 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1526C>T (p.Ser509Phe) single nucleotide variant PLXNA4-related disorder [RCV004724514] Chr7:132241144 [GRCh38]
Chr7:131925903 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2396-9C>A single nucleotide variant PLXNA4-related disorder [RCV004728112] Chr7:132202845 [GRCh38]
Chr7:131887604 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4482G>A (p.Gln1494=) single nucleotide variant PLXNA4-related disorder [RCV004728502] Chr7:132164160 [GRCh38]
Chr7:131848919 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3640-2A>G single nucleotide variant PLXNA4-related disorder [RCV004741817] Chr7:132179923 [GRCh38]
Chr7:131864682 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2587-2A>G single nucleotide variant PLXNA4-related disorder [RCV004741843] Chr7:132198638 [GRCh38]
Chr7:131883397 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.903G>A (p.Glu301=) single nucleotide variant PLXNA4-related disorder [RCV004741859] Chr7:132507791 [GRCh38]
Chr7:132192550 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.267C>A (p.Asp89Glu) single nucleotide variant PLXNA4-related disorder [RCV004741907] Chr7:132508427 [GRCh38]
Chr7:132193186 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2994-5T>A single nucleotide variant PLXNA4-related disorder [RCV004742847] Chr7:132185468 [GRCh38]
Chr7:131870227 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.522C>T (p.Val174=) single nucleotide variant PLXNA4-related disorder [RCV004742979] Chr7:132508172 [GRCh38]
Chr7:132192931 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.573G>C (p.Gly191=) single nucleotide variant PLXNA4-related disorder [RCV004743046] Chr7:132508121 [GRCh38]
Chr7:132192880 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2664C>T (p.Arg888=) single nucleotide variant PLXNA4-related disorder [RCV004743082] Chr7:132198559 [GRCh38]
Chr7:131883318 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1771G>A (p.Val591Ile) single nucleotide variant PLXNA4-related disorder [RCV004743107] Chr7:132227562 [GRCh38]
Chr7:131912321 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.27C>G (p.Thr9=) single nucleotide variant PLXNA4-related disorder [RCV004743776] Chr7:132508667 [GRCh38]
Chr7:132193426 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3131G>A (p.Arg1044Gln) single nucleotide variant PLXNA4-related disorder [RCV004743790] Chr7:132185326 [GRCh38]
Chr7:131870085 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3918C>T (p.Asp1306=) single nucleotide variant PLXNA4-related disorder [RCV004743857] Chr7:132174877 [GRCh38]
Chr7:131859636 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4411A>G single nucleotide variant PLXNA4-related disorder [RCV004743909] Chr7:132484881 [GRCh38]
Chr7:132169640 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3960C>T (p.Tyr1320=) single nucleotide variant PLXNA4-related disorder [RCV004743903] Chr7:132174835 [GRCh38]
Chr7:131859594 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2395+9G>A single nucleotide variant PLXNA4-related disorder [RCV004743965] Chr7:132203314 [GRCh38]
Chr7:131888073 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4472C>G single nucleotide variant PLXNA4-related disorder [RCV004744025] Chr7:132484820 [GRCh38]
Chr7:132169579 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.765C>T (p.Tyr255=) single nucleotide variant PLXNA4-related disorder [RCV004743997] Chr7:132507929 [GRCh38]
Chr7:132192688 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5595T>C (p.Leu1865=) single nucleotide variant PLXNA4-related disorder [RCV004744146] Chr7:132130569 [GRCh38]
Chr7:131815328 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5070G>A (p.Lys1690=) single nucleotide variant PLXNA4-related disorder [RCV004744669] Chr7:132145274 [GRCh38]
Chr7:131830033 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4511G>A (p.Cys1504Tyr) single nucleotide variant PLXNA4-related disorder [RCV004741846] Chr7:132159622 [GRCh38]
Chr7:131844381 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1722C>T (p.Asn574=) single nucleotide variant PLXNA4-related disorder [RCV004741918] Chr7:132228352 [GRCh38]
Chr7:131913111 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5492C>G (p.Ala1831Gly) single nucleotide variant PLXNA4-related disorder [RCV004742788] Chr7:132133146 [GRCh38]
Chr7:131817905 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2311G>A (p.Gly771Arg) single nucleotide variant PLXNA4-related disorder [RCV004742800] Chr7:132203407 [GRCh38]
Chr7:131888166 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2299-7G>A single nucleotide variant PLXNA4-related disorder [RCV004745961] Chr7:132203426 [GRCh38]
Chr7:131888185 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3668C>T (p.Pro1223Leu) single nucleotide variant PLXNA4-related disorder [RCV004746009] Chr7:132179893 [GRCh38]
Chr7:131864652 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5491G>A (p.Ala1831Thr) single nucleotide variant PLXNA4-related disorder [RCV004743004] Chr7:132133147 [GRCh38]
Chr7:131817906 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4991A>G (p.Lys1664Arg) single nucleotide variant PLXNA4-related disorder [RCV004742990] Chr7:132146574 [GRCh38]
Chr7:131831333 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.332C>T (p.Thr111Ile) single nucleotide variant PLXNA4-related disorder [RCV004743085] Chr7:132508362 [GRCh38]
Chr7:132193121 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4501-7C>T single nucleotide variant PLXNA4-related disorder [RCV004743063] Chr7:132159639 [GRCh38]
Chr7:131844398 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2350G>A (p.Val784Met) single nucleotide variant PLXNA4-related disorder [RCV004743157] Chr7:132203368 [GRCh38]
Chr7:131888127 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5610C>T (p.His1870=) single nucleotide variant PLXNA4-related disorder [RCV004743127] Chr7:132130554 [GRCh38]
Chr7:131815313 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4027T>C (p.Tyr1343His) single nucleotide variant PLXNA4-related disorder [RCV004743775] Chr7:132168563 [GRCh38]
Chr7:131853322 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3939G>A (p.Pro1313=) single nucleotide variant PLXNA4-related disorder [RCV004743749] Chr7:132174856 [GRCh38]
Chr7:131859615 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3113A>T (p.Glu1038Val) single nucleotide variant PLXNA4-related disorder [RCV004743876] Chr7:132185344 [GRCh38]
Chr7:131870103 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1332T>C (p.Ser444=) single nucleotide variant PLXNA4-related disorder [RCV004743928] Chr7:132489331 [GRCh38]
Chr7:132174090 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1614G>A (p.Arg538=) single nucleotide variant PLXNA4-related disorder [RCV004743948] Chr7:132228460 [GRCh38]
Chr7:131913219 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5484C>T (p.Asp1828=) single nucleotide variant PLXNA4-related disorder [RCV004743982] Chr7:132133154 [GRCh38]
Chr7:131817913 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4433C>T (p.Thr1478Met) single nucleotide variant PLXNA4-related disorder [RCV004744005] Chr7:132164209 [GRCh38]
Chr7:131848968 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.486T>G (p.Gly162=) single nucleotide variant PLXNA4-related disorder [RCV004744063] Chr7:132508208 [GRCh38]
Chr7:132192967 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.117A>G (p.Ser39=) single nucleotide variant PLXNA4-related disorder [RCV004744043] Chr7:132508577 [GRCh38]
Chr7:132193336 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4437C>A (p.Gly1479=) single nucleotide variant PLXNA4-related disorder [RCV004744080] Chr7:132164205 [GRCh38]
Chr7:131848964 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4716C>G (p.Thr1572=) single nucleotide variant PLXNA4-related disorder [RCV004746013] Chr7:132148591 [GRCh38]
Chr7:131833350 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4304G>A single nucleotide variant PLXNA4-related disorder [RCV004746021] Chr7:132484988 [GRCh38]
Chr7:132169747 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2784C>T (p.Gly928=) single nucleotide variant PLXNA4-related disorder [RCV004746104] Chr7:132194134 [GRCh38]
Chr7:131878893 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4038G>A (p.Glu1346=) single nucleotide variant PLXNA4-related disorder [RCV004746674] Chr7:132168552 [GRCh38]
Chr7:131853311 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2538G>C (p.Leu846=) single nucleotide variant PLXNA4-related disorder [RCV004746662] Chr7:132202694 [GRCh38]
Chr7:131887453 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4962A>G (p.Leu1654=) single nucleotide variant PLXNA4-related disorder [RCV004744689] Chr7:132146603 [GRCh38]
Chr7:131831362 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4005C>G (p.Leu1335=) single nucleotide variant PLXNA4-related disorder [RCV004744700] Chr7:132174790 [GRCh38]
Chr7:131859549 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4406A>G single nucleotide variant PLXNA4-related disorder [RCV004726333] Chr7:132484886 [GRCh38]
Chr7:132169645 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5220C>T (p.Ser1740=) single nucleotide variant PLXNA4-related disorder [RCV004746033] Chr7:132145124 [GRCh38]
Chr7:131829883 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5205C>T (p.Arg1735=) single nucleotide variant PLXNA4-related disorder [RCV004746081] Chr7:132145139 [GRCh38]
Chr7:131829898 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5361C>T (p.His1787=) single nucleotide variant PLXNA4-related disorder [RCV004746633] Chr7:132140676 [GRCh38]
Chr7:131825435 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.138G>A (p.Glu46=) single nucleotide variant PLXNA4-related disorder [RCV004746695] Chr7:132508556 [GRCh38]
Chr7:132193315 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1883-6T>A single nucleotide variant PLXNA4-related disorder [RCV004746705] Chr7:132226266 [GRCh38]
Chr7:131911025 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3689C>T (p.Pro1230Leu) single nucleotide variant PLXNA4-related disorder [RCV004746817] Chr7:132179872 [GRCh38]
Chr7:131864631 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2439G>A (p.Leu813=) single nucleotide variant PLXNA4-related disorder [RCV004746808] Chr7:132202793 [GRCh38]
Chr7:131887552 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2670C>A (p.Ile890=) single nucleotide variant PLXNA4-related disorder [RCV004746879] Chr7:132198553 [GRCh38]
Chr7:131883312 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2067C>A (p.Ser689=) single nucleotide variant PLXNA4-related disorder [RCV004746881] Chr7:132223557 [GRCh38]
Chr7:131908316 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3073A>G (p.Arg1025Gly) single nucleotide variant PLXNA4-related disorder [RCV004746891] Chr7:132185384 [GRCh38]
Chr7:131870143 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1371+4412T>G single nucleotide variant PLXNA4-related disorder [RCV004746944] Chr7:132484880 [GRCh38]
Chr7:132169639 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2217C>T (p.Cys739=) single nucleotide variant PLXNA4-related disorder [RCV004746928] Chr7:132211024 [GRCh38]
Chr7:131895783 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5105C>T (p.Thr1702Met) single nucleotide variant PLXNA4-related disorder [RCV004724297] Chr7:132145239 [GRCh38]
Chr7:131829998 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3254T>A (p.Ile1085Asn) single nucleotide variant PLXNA4-related disorder [RCV004726523] Chr7:132181619 [GRCh38]
Chr7:131866378 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2203C>T (p.Arg735Cys) single nucleotide variant PLXNA4-related disorder [RCV004724688] Chr7:132211038 [GRCh38]
Chr7:131895797 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1371+4317G>A single nucleotide variant PLXNA4-related disorder [RCV004741875] Chr7:132484975 [GRCh38]
Chr7:132169734 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1550G>A (p.Gly517Asp) single nucleotide variant PLXNA4-related disorder [RCV004741899] Chr7:132241120 [GRCh38]
Chr7:131925879 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3270C>T (p.Asn1090=) single nucleotide variant PLXNA4-related disorder [RCV004742723] Chr7:132181603 [GRCh38]
Chr7:131866362 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5496C>T (p.Tyr1832=) single nucleotide variant PLXNA4-related disorder [RCV004742773] Chr7:132133142 [GRCh38]
Chr7:131817901 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4501-6C>T single nucleotide variant PLXNA4-related disorder [RCV004742808] Chr7:132159638 [GRCh38]
Chr7:131844397 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2361G>A (p.Gly787=) single nucleotide variant PLXNA4-related disorder [RCV004742924] Chr7:132203357 [GRCh38]
Chr7:131888116 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2875C>T (p.Leu959=) single nucleotide variant PLXNA4-related disorder [RCV004742886] Chr7:132187589 [GRCh38]
Chr7:131872348 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3174C>T (p.Ile1058=) single nucleotide variant PLXNA4-related disorder [RCV004742997] Chr7:132182175 [GRCh38]
Chr7:131866934 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4355T>C single nucleotide variant PLXNA4-related disorder [RCV004743003] Chr7:132484937 [GRCh38]
Chr7:132169696 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2012G>A (p.Arg671His) single nucleotide variant PLXNA4-related disorder [RCV004743043] Chr7:132223612 [GRCh38]
Chr7:131908371 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1679G>A (p.Arg560Gln) single nucleotide variant PLXNA4-related disorder [RCV004743086] Chr7:132228395 [GRCh38]
Chr7:131913154 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.648C>T (p.Tyr216=) single nucleotide variant PLXNA4-related disorder [RCV004743083] Chr7:132508046 [GRCh38]
Chr7:132192805 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4884G>A (p.Thr1628=) single nucleotide variant PLXNA4-related disorder [RCV004743730] Chr7:132146681 [GRCh38]
Chr7:131831440 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1659G>A (p.Ser553=) single nucleotide variant PLXNA4-related disorder [RCV004743689] Chr7:132228415 [GRCh38]
Chr7:131913174 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.43C>A (p.Leu15Ile) single nucleotide variant PLXNA4-related disorder [RCV004743759] Chr7:132508651 [GRCh38]
Chr7:132193410 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.629C>T (p.Ala210Val) single nucleotide variant PLXNA4-related disorder [RCV004743789] Chr7:132508065 [GRCh38]
Chr7:132192824 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5195C>T (p.Pro1732Leu) single nucleotide variant PLXNA4-related disorder [RCV004743850] Chr7:132145149 [GRCh38]
Chr7:131829908 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1278G>A (p.Thr426=) single nucleotide variant PLXNA4-related disorder [RCV004743870] Chr7:132489385 [GRCh38]
Chr7:132174144 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5584G>A (p.Glu1862Lys) single nucleotide variant PLXNA4-related disorder [RCV004743866] Chr7:132133054 [GRCh38]
Chr7:131817813 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.438C>T (p.Leu146=) single nucleotide variant PLXNA4-related disorder [RCV004743951] Chr7:132508256 [GRCh38]
Chr7:132193015 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3819G>A (p.Arg1273=) single nucleotide variant PLXNA4-related disorder [RCV004743904] Chr7:132179742 [GRCh38]
Chr7:131864501 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3273T>C (p.Ala1091=) single nucleotide variant PLXNA4-related disorder [RCV004744003] Chr7:132181600 [GRCh38]
Chr7:131866359 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1296G>A (p.Met432Ile) single nucleotide variant PLXNA4-related disorder [RCV004729782] Chr7:132489367 [GRCh38]
Chr7:132174126 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.524C>G (p.Ser175Cys) single nucleotide variant PLXNA4-related disorder [RCV004729902] Chr7:132508170 [GRCh38]
Chr7:132192929 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5438G>A (p.Arg1813Lys) single nucleotide variant PLXNA4-related disorder [RCV004724354] Chr7:132140599 [GRCh38]
Chr7:131825358 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3546T>G (p.Thr1182=) single nucleotide variant PLXNA4-related disorder [RCV004744054] Chr7:132180679 [GRCh38]
Chr7:131865438 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4884G>C (p.Thr1628=) single nucleotide variant PLXNA4-related disorder [RCV004744119] Chr7:132146681 [GRCh38]
Chr7:131831440 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3191A>G (p.His1064Arg) single nucleotide variant PLXNA4-related disorder [RCV004744670] Chr7:132182158 [GRCh38]
Chr7:131866917 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2116C>A (p.Arg706=) single nucleotide variant PLXNA4-related disorder [RCV004729997] Chr7:132211125 [GRCh38]
Chr7:131895884 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2892G>A (p.Gly964=) single nucleotide variant PLXNA4-related disorder [RCV004728297] Chr7:132187572 [GRCh38]
Chr7:131872331 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3881C>T (p.Ala1294Val) single nucleotide variant PLXNA4-related disorder [RCV004741989] Chr7:132174914 [GRCh38]
Chr7:131859673 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3893C>T (p.Thr1298Met) single nucleotide variant PLXNA4-related disorder [RCV004742795] Chr7:132174902 [GRCh38]
Chr7:131859661 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2332C>A (p.Pro778Thr) single nucleotide variant PLXNA4-related disorder [RCV004742848] Chr7:132203386 [GRCh38]
Chr7:131888145 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.752G>A (p.Gly251Asp) single nucleotide variant PLXNA4-related disorder [RCV004742881] Chr7:132507942 [GRCh38]
Chr7:132192701 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1372-87068T>A single nucleotide variant PLXNA4-related disorder [RCV004742868] Chr7:132385290 [GRCh38]
Chr7:132070049 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1894G>A (p.Val632Ile) single nucleotide variant PLXNA4-related disorder [RCV004746075] Chr7:132226249 [GRCh38]
Chr7:131911008 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3752T>G (p.Ile1251Ser) single nucleotide variant PLXNA4-related disorder [RCV004746080] Chr7:132179809 [GRCh38]
Chr7:131864568 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3414C>T (p.Tyr1138=) single nucleotide variant PLXNA4-related disorder [RCV004746085] Chr7:132181459 [GRCh38]
Chr7:131866218 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2349C>A (p.Val783=) single nucleotide variant PLXNA4-related disorder [RCV004746094] Chr7:132203369 [GRCh38]
Chr7:131888128 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5439-6C>G single nucleotide variant PLXNA4-related disorder [RCV004746657] Chr7:132133205 [GRCh38]
Chr7:131817964 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1645C>A (p.Arg549Ser) single nucleotide variant PLXNA4-related disorder [RCV004746744] Chr7:132228429 [GRCh38]
Chr7:131913188 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2423G>A (p.Arg808His) single nucleotide variant PLXNA4-related disorder [RCV004746762] Chr7:132202809 [GRCh38]
Chr7:131887568 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3810G>A (p.Thr1270=) single nucleotide variant PLXNA4-related disorder [RCV004746790] Chr7:132179751 [GRCh38]
Chr7:131864510 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2081G>C (p.Arg694Pro) single nucleotide variant PLXNA4-related disorder [RCV004746815] Chr7:132223543 [GRCh38]
Chr7:131908302 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5352G>A (p.Thr1784=) single nucleotide variant PLXNA4-related disorder [RCV004746779] Chr7:132140685 [GRCh38]
Chr7:131825444 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1757A>C (p.Glu586Ala) single nucleotide variant PLXNA4-related disorder [RCV004746983] Chr7:132227576 [GRCh38]
Chr7:131912335 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4155C>T (p.Asn1385=) single nucleotide variant PLXNA4-related disorder [RCV004746990] Chr7:132168435 [GRCh38]
Chr7:131853194 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.13C>T (p.Pro5Ser) single nucleotide variant PLXNA4-related disorder [RCV004742901] Chr7:132508681 [GRCh38]
Chr7:132193440 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3699G>A (p.Pro1233=) single nucleotide variant PLXNA4-related disorder [RCV004742941] Chr7:132179862 [GRCh38]
Chr7:131864621 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2995C>A (p.Arg999=) single nucleotide variant PLXNA4-related disorder [RCV004743000] Chr7:132185462 [GRCh38]
Chr7:131870221 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.841G>A (p.Val281Met) single nucleotide variant PLXNA4-related disorder [RCV004743015] Chr7:132507853 [GRCh38]
Chr7:132192612 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1371+4484C>T single nucleotide variant PLXNA4-related disorder [RCV004743024] Chr7:132484808 [GRCh38]
Chr7:132169567 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2830C>T (p.Arg944Trp) single nucleotide variant PLXNA4-related disorder [RCV004743079] Chr7:132194088 [GRCh38]
Chr7:131878847 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.735C>T (p.Val245=) single nucleotide variant PLXNA4-related disorder [RCV004743089] Chr7:132507959 [GRCh38]
Chr7:132192718 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.786G>A (p.Glu262=) single nucleotide variant PLXNA4-related disorder [RCV004743162] Chr7:132507908 [GRCh38]
Chr7:132192667 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1610C>A (p.Thr537Asn) single nucleotide variant PLXNA4-related disorder [RCV004743165] Chr7:132228464 [GRCh38]
Chr7:131913223 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2742C>T (p.Ile914=) single nucleotide variant PLXNA4-related disorder [RCV004743141] Chr7:132194176 [GRCh38]
Chr7:131878935 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.886G>T (p.Val296Leu) single nucleotide variant PLXNA4-related disorder [RCV004743686] Chr7:132507808 [GRCh38]
Chr7:132192567 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4770A>G (p.Pro1590=) single nucleotide variant PLXNA4-related disorder [RCV004743725] Chr7:132147994 [GRCh38]
Chr7:131832753 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.910G>A (p.Gly304Arg) single nucleotide variant PLXNA4-related disorder [RCV004743934] Chr7:132507784 [GRCh38]
Chr7:132192543 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2665G>A (p.Asp889Asn) single nucleotide variant PLXNA4-related disorder [RCV004743999] Chr7:132198558 [GRCh38]
Chr7:131883317 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5421C>T (p.Tyr1807=) single nucleotide variant PLXNA4-related disorder [RCV004744075] Chr7:132140616 [GRCh38]
Chr7:131825375 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3964A>G (p.Met1322Val) single nucleotide variant PLXNA4-related disorder [RCV004744136] Chr7:132174831 [GRCh38]
Chr7:131859590 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.155A>G (p.Asn52Ser) single nucleotide variant PLXNA4-related disorder [RCV004744099] Chr7:132508539 [GRCh38]
Chr7:132193298 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4837G>T (p.Val1613Phe) single nucleotide variant PLXNA4-related disorder [RCV004746071] Chr7:132147927 [GRCh38]
Chr7:131832686 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.-1C>T single nucleotide variant PLXNA4-related disorder [RCV004746043] Chr7:132508694 [GRCh38]
Chr7:132193453 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4362T>C single nucleotide variant PLXNA4-related disorder [RCV004746086] Chr7:132484930 [GRCh38]
Chr7:132169689 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2634C>A (p.Ile878=) single nucleotide variant PLXNA4-related disorder [RCV004746686] Chr7:132198589 [GRCh38]
Chr7:131883348 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3656T>A (p.Met1219Lys) single nucleotide variant PLXNA4-related disorder [RCV004746754] Chr7:132179905 [GRCh38]
Chr7:131864664 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2464G>A (p.Ala822Thr) single nucleotide variant PLXNA4-related disorder [RCV004746853] Chr7:132202768 [GRCh38]
Chr7:131887527 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3315T>C (p.Pro1105=) single nucleotide variant PLXNA4-related disorder [RCV004746868] Chr7:132181558 [GRCh38]
Chr7:131866317 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4177G>A (p.Val1393Met) single nucleotide variant PLXNA4-related disorder [RCV004746848] Chr7:132168413 [GRCh38]
Chr7:131853172 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4039C>T (p.Arg1347Cys) single nucleotide variant PLXNA4-related disorder [RCV004746904] Chr7:132168551 [GRCh38]
Chr7:131853310 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4812C>G (p.Ala1604=) single nucleotide variant PLXNA4-related disorder [RCV004746819] Chr7:132147952 [GRCh38]
Chr7:131832711 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3336C>T (p.Thr1112=) single nucleotide variant PLXNA4-related disorder [RCV004746946] Chr7:132181537 [GRCh38]
Chr7:131866296 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1876G>A (p.Glu626Lys) single nucleotide variant PLXNA4-related disorder [RCV004746991] Chr7:132227457 [GRCh38]
Chr7:131912216 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2594C>T (p.Pro865Leu) single nucleotide variant PLXNA4-related disorder [RCV004729896] Chr7:132198629 [GRCh38]
Chr7:131883388 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2586+6C>T single nucleotide variant PLXNA4-related disorder [RCV004730168] Chr7:132202640 [GRCh38]
Chr7:131887399 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4337A>G single nucleotide variant PLXNA4-related disorder [RCV004728196] Chr7:132484955 [GRCh38]
Chr7:132169714 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1909C>T (p.Leu637Phe) single nucleotide variant PLXNA4-related disorder [RCV004728208] Chr7:132226234 [GRCh38]
Chr7:131910993 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.25A>G (p.Thr9Ala) single nucleotide variant PLXNA4-related disorder [RCV004728137] Chr7:132508669 [GRCh38]
Chr7:132193428 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2135T>G (p.Val712Gly) single nucleotide variant PLXNA4-related disorder [RCV004728391] Chr7:132211106 [GRCh38]
Chr7:131895865 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2637A>G (p.Arg879=) single nucleotide variant PLXNA4-related disorder [RCV004724273] Chr7:132198586 [GRCh38]
Chr7:131883345 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.111G>A (p.Gln37=) single nucleotide variant PLXNA4-related disorder [RCV004724275] Chr7:132508583 [GRCh38]
Chr7:132193342 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3175G>A (p.Ala1059Thr) single nucleotide variant PLXNA4-related disorder [RCV004724384] Chr7:132182174 [GRCh38]
Chr7:131866933 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5180A>G (p.His1727Arg) single nucleotide variant PLXNA4-related disorder [RCV004724574] Chr7:132145164 [GRCh38]
Chr7:131829923 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4093C>T (p.Leu1365=) single nucleotide variant PLXNA4-related disorder [RCV004724672] Chr7:132168497 [GRCh38]
Chr7:131853256 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.760G>T (p.Val254Phe) single nucleotide variant PLXNA4-related disorder [RCV004741879] Chr7:132507934 [GRCh38]
Chr7:132192693 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3793C>T (p.Arg1265Cys) single nucleotide variant PLXNA4-related disorder [RCV004729765] Chr7:132179768 [GRCh38]
Chr7:131864527 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.872A>G (p.Asn291Ser) single nucleotide variant PLXNA4-related disorder [RCV004729884] Chr7:132507822 [GRCh38]
Chr7:132192581 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3175G>T (p.Ala1059Ser) single nucleotide variant PLXNA4-related disorder [RCV004741964] Chr7:132182174 [GRCh38]
Chr7:131866933 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5232C>T (p.Pro1744=) single nucleotide variant PLXNA4-related disorder [RCV004742002] Chr7:132140805 [GRCh38]
Chr7:131825564 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4872_4874del (p.Met1624del) deletion PLXNA4-related disorder [RCV004742713] Chr7:132146691..132146693 [GRCh38]
Chr7:131831450..131831452 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1930A>G (p.Met644Val) single nucleotide variant PLXNA4-related disorder [RCV004742832] Chr7:132226213 [GRCh38]
Chr7:131910972 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3871del (p.Glu1291fs) deletion PLXNA4-related disorder [RCV004742845] Chr7:132179690 [GRCh38]
Chr7:131864449 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.608A>C (p.Lys203Thr) single nucleotide variant PLXNA4-related disorder [RCV004742829] Chr7:132508086 [GRCh38]
Chr7:132192845 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5593C>T (p.Leu1865Phe) single nucleotide variant PLXNA4-related disorder [RCV004742860] Chr7:132130571 [GRCh38]
Chr7:131815330 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2635C>T (p.Arg879Ter) single nucleotide variant PLXNA4-related disorder [RCV004742975] Chr7:132198588 [GRCh38]
Chr7:131883347 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4113G>A (p.Thr1371=) single nucleotide variant PLXNA4-related disorder [RCV004742965] Chr7:132168477 [GRCh38]
Chr7:131853236 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4501G>A (p.Val1501Ile) single nucleotide variant PLXNA4-related disorder [RCV004743009] Chr7:132159632 [GRCh38]
Chr7:131844391 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1743G>A (p.Thr581=) single nucleotide variant PLXNA4-related disorder [RCV004743094] Chr7:132227590 [GRCh38]
Chr7:131912349 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2238C>T (p.Ser746=) single nucleotide variant PLXNA4-related disorder [RCV004743712] Chr7:132211003 [GRCh38]
Chr7:131895762 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1443C>T (p.Val481=) single nucleotide variant PLXNA4-related disorder [RCV004743750] Chr7:132298151 [GRCh38]
Chr7:131982910 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2699A>T (p.Glu900Val) single nucleotide variant PLXNA4-related disorder [RCV004743752] Chr7:132198524 [GRCh38]
Chr7:131883283 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.905G>A (p.Arg302His) single nucleotide variant PLXNA4-related disorder [RCV004743769] Chr7:132507789 [GRCh38]
Chr7:132192548 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5587G>C (p.Glu1863Gln) single nucleotide variant PLXNA4-related disorder [RCV004743877] Chr7:132133051 [GRCh38]
Chr7:131817810 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1291C>T (p.Arg431Cys) single nucleotide variant PLXNA4-related disorder [RCV004744128] Chr7:132489372 [GRCh38]
Chr7:132174131 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2055C>T (p.Pro685=) single nucleotide variant PLXNA4-related disorder [RCV004744097] Chr7:132223569 [GRCh38]
Chr7:131908328 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4894G>A (p.Asp1632Asn) single nucleotide variant PLXNA4-related disorder [RCV004744674] Chr7:132146671 [GRCh38]
Chr7:131831430 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1548C>T (p.Cys516=) single nucleotide variant PLXNA4-related disorder [RCV004745963] Chr7:132241122 [GRCh38]
Chr7:131925881 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4660+5G>A single nucleotide variant PLXNA4-related disorder [RCV004746672] Chr7:132159468 [GRCh38]
Chr7:131844227 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4865-4G>A single nucleotide variant PLXNA4-related disorder [RCV004746679] Chr7:132146704 [GRCh38]
Chr7:131831463 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.858G>A (p.Glu286=) single nucleotide variant PLXNA4-related disorder [RCV004746771] Chr7:132507836 [GRCh38]
Chr7:132192595 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.276C>T (p.Asn92=) single nucleotide variant PLXNA4-related disorder [RCV004746861] Chr7:132508418 [GRCh38]
Chr7:132193177 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.145G>A (p.Glu49Lys) single nucleotide variant PLXNA4-related disorder [RCV004746970] Chr7:132508549 [GRCh38]
Chr7:132193308 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3786C>G (p.Arg1262=) single nucleotide variant PLXNA4-related disorder [RCV004746911] Chr7:132179775 [GRCh38]
Chr7:131864534 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2587-9T>C single nucleotide variant PLXNA4-related disorder [RCV004726486] Chr7:132198645 [GRCh38]
Chr7:131883404 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3407T>G (p.Phe1136Cys) single nucleotide variant PLXNA4-related disorder [RCV004726657] Chr7:132181466 [GRCh38]
Chr7:131866225 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1014C>T (p.Val338=) single nucleotide variant PLXNA4-related disorder [RCV004741900] Chr7:132507680 [GRCh38]
Chr7:132192439 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1939G>A (p.Ala647Thr) single nucleotide variant PLXNA4-related disorder [RCV004741929] Chr7:132226204 [GRCh38]
Chr7:131910963 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3674T>C (p.Met1225Thr) single nucleotide variant PLXNA4-related disorder [RCV004741890] Chr7:132179887 [GRCh38]
Chr7:131864646 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5331C>T (p.Thr1777=) single nucleotide variant PLXNA4-related disorder [RCV004741935] Chr7:132140706 [GRCh38]
Chr7:131825465 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4124A>G (p.Gln1375Arg) single nucleotide variant PLXNA4-related disorder [RCV004742701] Chr7:132168466 [GRCh38]
Chr7:131853225 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3328G>C (p.Asp1110His) single nucleotide variant PLXNA4-related disorder [RCV004742812] Chr7:132181545 [GRCh38]
Chr7:131866304 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1183A>G (p.Ser395Gly) single nucleotide variant PLXNA4-related disorder [RCV004742918] Chr7:132507511 [GRCh38]
Chr7:132192270 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3043C>T (p.Leu1015=) single nucleotide variant PLXNA4-related disorder [RCV004742946] Chr7:132185414 [GRCh38]
Chr7:131870173 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.948C>T (p.Ser316=) single nucleotide variant PLXNA4-related disorder [RCV004743168] Chr7:132507746 [GRCh38]
Chr7:132192505 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2754G>C (p.Met918Ile) single nucleotide variant PLXNA4-related disorder [RCV004743739] Chr7:132194164 [GRCh38]
Chr7:131878923 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2875C>A (p.Leu959Met) single nucleotide variant PLXNA4-related disorder [RCV004744001] Chr7:132187589 [GRCh38]
Chr7:131872348 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5054A>G (p.Lys1685Arg) single nucleotide variant PLXNA4-related disorder [RCV004743966] Chr7:132146511 [GRCh38]
Chr7:131831270 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.941A>T (p.Tyr314Phe) single nucleotide variant PLXNA4-related disorder [RCV004743994] Chr7:132507753 [GRCh38]
Chr7:132192512 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2383G>T (p.Ala795Ser) single nucleotide variant PLXNA4-related disorder [RCV004744049] Chr7:132203335 [GRCh38]
Chr7:131888094 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2609G>T (p.Arg870Leu) single nucleotide variant PLXNA4-related disorder [RCV004744135] Chr7:132198614 [GRCh38]
Chr7:131883373 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.192C>T (p.Tyr64=) single nucleotide variant PLXNA4-related disorder [RCV004746002] Chr7:132508502 [GRCh38]
Chr7:132193261 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1372-87038A>G single nucleotide variant PLXNA4-related disorder [RCV004746023] Chr7:132385260 [GRCh38]
Chr7:132070019 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4043T>C (p.Val1348Ala) single nucleotide variant PLXNA4-related disorder [RCV004746028] Chr7:132168547 [GRCh38]
Chr7:131853306 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3780T>C (p.Tyr1260=) single nucleotide variant PLXNA4-related disorder [RCV004746718] Chr7:132179781 [GRCh38]
Chr7:131864540 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.594C>T (p.Thr198=) single nucleotide variant PLXNA4-related disorder [RCV004746925] Chr7:132508100 [GRCh38]
Chr7:132192859 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4836C>T (p.Thr1612=) single nucleotide variant PLXNA4-related disorder [RCV004746993] Chr7:132147928 [GRCh38]
Chr7:131832687 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4231G>A (p.Asp1411Asn) single nucleotide variant PLXNA4-related disorder [RCV004747005] Chr7:132168359 [GRCh38]
Chr7:131853118 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1371+4420C>G single nucleotide variant PLXNA4-related disorder [RCV004728301] Chr7:132484872 [GRCh38]
Chr7:132169631 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2882C>T (p.Pro961Leu) single nucleotide variant PLXNA4-related disorder [RCV004726346] Chr7:132187582 [GRCh38]
Chr7:131872341 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2011C>A (p.Arg671Ser) single nucleotide variant PLXNA4-related disorder [RCV004726544] Chr7:132223613 [GRCh38]
Chr7:131908372 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2738+5G>C single nucleotide variant PLXNA4-related disorder [RCV004727952] Chr7:132198480 [GRCh38]
Chr7:131883239 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4504C>G (p.Leu1502Val) single nucleotide variant PLXNA4-related disorder [RCV004728337] Chr7:132159629 [GRCh38]
Chr7:131844388 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1371+4339C>T single nucleotide variant PLXNA4-related disorder [RCV004728521] Chr7:132484953 [GRCh38]
Chr7:132169712 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3230A>G (p.His1077Arg) single nucleotide variant PLXNA4-related disorder [RCV004724596] Chr7:132182119 [GRCh38]
Chr7:131866878 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.497G>A (p.Ser166Asn) single nucleotide variant PLXNA4-related disorder [RCV004724658] Chr7:132508197 [GRCh38]
Chr7:132192956 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1601A>G (p.Asn534Ser) single nucleotide variant PLXNA4-related disorder [RCV004741824] Chr7:132241069 [GRCh38]
Chr7:131925828 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.595A>G (p.Ile199Val) single nucleotide variant PLXNA4-related disorder [RCV004741833] Chr7:132508099 [GRCh38]
Chr7:132192858 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3137A>G (p.Glu1046Gly) single nucleotide variant PLXNA4-related disorder [RCV004741911] Chr7:132185320 [GRCh38]
Chr7:131870079 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1734C>T (p.Val578=) single nucleotide variant PLXNA4-related disorder [RCV004741930] Chr7:132227599 [GRCh38]
Chr7:131912358 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1017C>T (p.Phe339=) single nucleotide variant PLXNA4-related disorder [RCV004741990] Chr7:132507677 [GRCh38]
Chr7:132192436 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.295del (p.Arg99fs) deletion PLXNA4-related disorder [RCV004742772] Chr7:132508399 [GRCh38]
Chr7:132193158 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2694C>T (p.Gly898=) single nucleotide variant PLXNA4-related disorder [RCV004742734] Chr7:132198529 [GRCh38]
Chr7:131883288 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1723G>A (p.Val575Met) single nucleotide variant PLXNA4-related disorder [RCV004742816] Chr7:132228351 [GRCh38]
Chr7:131913110 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.934G>T (p.Ala312Ser) single nucleotide variant PLXNA4-related disorder [RCV004742817] Chr7:132507760 [GRCh38]
Chr7:132192519 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.494A>G (p.Glu165Gly) single nucleotide variant PLXNA4-related disorder [RCV004742863] Chr7:132508200 [GRCh38]
Chr7:132192959 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4057A>C (p.Lys1353Gln) single nucleotide variant PLXNA4-related disorder [RCV004742872] Chr7:132168533 [GRCh38]
Chr7:131853292 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4060C>T (p.Leu1354Phe) single nucleotide variant PLXNA4-related disorder [RCV004742835] Chr7:132168530 [GRCh38]
Chr7:131853289 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3387C>T (p.Leu1129=) single nucleotide variant PLXNA4-related disorder [RCV004742869] Chr7:132181486 [GRCh38]
Chr7:131866245 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4876C>T (p.Arg1626Trp) single nucleotide variant PLXNA4-related disorder [RCV004742935] Chr7:132146689 [GRCh38]
Chr7:131831448 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2856+10G>A single nucleotide variant PLXNA4-related disorder [RCV004742856] Chr7:132194052 [GRCh38]
Chr7:131878811 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1685C>T (p.Thr562Met) single nucleotide variant PLXNA4-related disorder [RCV004743035] Chr7:132228389 [GRCh38]
Chr7:131913148 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2595G>A (p.Pro865=) single nucleotide variant PLXNA4-related disorder [RCV004743110] Chr7:132198628 [GRCh38]
Chr7:131883387 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.539A>G (p.Asp180Gly) single nucleotide variant PLXNA4-related disorder [RCV004728102] Chr7:132508155 [GRCh38]
Chr7:132192914 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4012C>T (p.Leu1338Phe) single nucleotide variant PLXNA4-related disorder [RCV004728160] Chr7:132174783 [GRCh38]
Chr7:131859542 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1371+4449C>G single nucleotide variant PLXNA4-related disorder [RCV004728142] Chr7:132484843 [GRCh38]
Chr7:132169602 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1871T>A (p.Ile624Asn) single nucleotide variant PLXNA4-related disorder [RCV004743711] Chr7:132227462 [GRCh38]
Chr7:131912221 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4023G>A (p.Pro1341=) single nucleotide variant PLXNA4-related disorder [RCV004743692] Chr7:132168567 [GRCh38]
Chr7:131853326 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1371+4300G>A single nucleotide variant PLXNA4-related disorder [RCV004743782] Chr7:132484992 [GRCh38]
Chr7:132169751 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1896C>T (p.Val632=) single nucleotide variant PLXNA4-related disorder [RCV004743765] Chr7:132226247 [GRCh38]
Chr7:131911006 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1050G>A (p.Leu350=) single nucleotide variant PLXNA4-related disorder [RCV004743855] Chr7:132507644 [GRCh38]
Chr7:132192403 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4421T>C (p.Ile1474Thr) single nucleotide variant PLXNA4-related disorder [RCV004743956] Chr7:132164221 [GRCh38]
Chr7:131848980 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2032C>T (p.Arg678Trp) single nucleotide variant PLXNA4-related disorder [RCV004743958] Chr7:132223592 [GRCh38]
Chr7:131908351 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1375C>T (p.Arg459Trp) single nucleotide variant PLXNA4-related disorder [RCV004743974] Chr7:132298219 [GRCh38]
Chr7:131982978 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1005C>T (p.Leu335=) single nucleotide variant PLXNA4-related disorder [RCV004743969] Chr7:132507689 [GRCh38]
Chr7:132192448 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4545C>A (p.Val1515=) single nucleotide variant PLXNA4-related disorder [RCV004728345] Chr7:132159588 [GRCh38]
Chr7:131844347 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2040C>T (p.Val680=) single nucleotide variant PLXNA4-related disorder [RCV004744130] Chr7:132223584 [GRCh38]
Chr7:131908343 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3981A>G (p.Pro1327=) single nucleotide variant PLXNA4-related disorder [RCV004744150] Chr7:132174814 [GRCh38]
Chr7:131859573 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4238T>C (p.Ile1413Thr) single nucleotide variant PLXNA4-related disorder [RCV004744693] Chr7:132168352 [GRCh38]
Chr7:131853111 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.2857-9T>C single nucleotide variant PLXNA4-related disorder [RCV004744681] Chr7:132187616 [GRCh38]
Chr7:131872375 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3861G>T (p.Leu1287=) single nucleotide variant PLXNA4-related disorder [RCV004745982] Chr7:132179700 [GRCh38]
Chr7:131864459 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4098G>C (p.Leu1366=) single nucleotide variant PLXNA4-related disorder [RCV004745992] Chr7:132168492 [GRCh38]
Chr7:131853251 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1197C>T (p.Thr399=) single nucleotide variant PLXNA4-related disorder [RCV004746019] Chr7:132489466 [GRCh38]
Chr7:132174225 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5512C>T (p.Arg1838Trp) single nucleotide variant PLXNA4-related disorder [RCV004746055] Chr7:132133126 [GRCh38]
Chr7:131817885 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.-1C>G single nucleotide variant PLXNA4-related disorder [RCV004746058] Chr7:132508694 [GRCh38]
Chr7:132193453 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3850C>T (p.Arg1284Cys) single nucleotide variant PLXNA4-related disorder [RCV004746089] Chr7:132179711 [GRCh38]
Chr7:131864470 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3698C>T (p.Pro1233Leu) single nucleotide variant PLXNA4-related disorder [RCV004746069] Chr7:132179863 [GRCh38]
Chr7:131864622 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3923A>G (p.Asp1308Gly) single nucleotide variant PLXNA4-related disorder [RCV004746105] Chr7:132174872 [GRCh38]
Chr7:131859631 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.45C>T (p.Leu15=) single nucleotide variant PLXNA4-related disorder [RCV004746627] Chr7:132508649 [GRCh38]
Chr7:132193408 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.846G>A (p.Arg282=) single nucleotide variant PLXNA4-related disorder [RCV004746704] Chr7:132507848 [GRCh38]
Chr7:132192607 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1604+7A>G single nucleotide variant PLXNA4-related disorder [RCV004746701] Chr7:132241059 [GRCh38]
Chr7:131925818 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1686G>A (p.Thr562=) single nucleotide variant PLXNA4-related disorder [RCV004746758] Chr7:132228388 [GRCh38]
Chr7:131913147 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3738C>A (p.Gly1246=) single nucleotide variant PLXNA4-related disorder [RCV004746772] Chr7:132179823 [GRCh38]
Chr7:131864582 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.2586+8G>A single nucleotide variant PLXNA4-related disorder [RCV004746775] Chr7:132202638 [GRCh38]
Chr7:131887397 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1569C>T (p.Gly523=) single nucleotide variant PLXNA4-related disorder [RCV004746736] Chr7:132241101 [GRCh38]
Chr7:131925860 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.1416G>T (p.Thr472=) single nucleotide variant PLXNA4-related disorder [RCV004746737] Chr7:132298178 [GRCh38]
Chr7:131982937 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5259G>A (p.Lys1753=) single nucleotide variant PLXNA4-related disorder [RCV004746858] Chr7:132140778 [GRCh38]
Chr7:131825537 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3346G>A (p.Glu1116Lys) single nucleotide variant PLXNA4-related disorder [RCV004746876] Chr7:132181527 [GRCh38]
Chr7:131866286 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.591C>A (p.Pro197=) single nucleotide variant PLXNA4-related disorder [RCV004746835] Chr7:132508103 [GRCh38]
Chr7:132192862 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.4792G>C (p.Val1598Leu) single nucleotide variant PLXNA4-related disorder [RCV004746880] Chr7:132147972 [GRCh38]
Chr7:131832731 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3704G>C (p.Ser1235Thr) single nucleotide variant PLXNA4-related disorder [RCV004746836] Chr7:132179857 [GRCh38]
Chr7:131864616 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.3477G>T (p.Thr1159=) single nucleotide variant PLXNA4-related disorder [RCV004746863] Chr7:132181396 [GRCh38]
Chr7:131866155 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3968G>A (p.Arg1323Gln) single nucleotide variant PLXNA4-related disorder [RCV004746932] Chr7:132174827 [GRCh38]
Chr7:131859586 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.5614G>A (p.Asp1872Asn) single nucleotide variant PLXNA4-related disorder [RCV004746921] Chr7:132130550 [GRCh38]
Chr7:131815309 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.1644C>T (p.Pro548=) single nucleotide variant PLXNA4-related disorder [RCV004746980] Chr7:132228430 [GRCh38]
Chr7:131913189 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3656T>G (p.Met1219Arg) single nucleotide variant PLXNA4-related disorder [RCV004726358] Chr7:132179905 [GRCh38]
Chr7:131864664 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4661-7_4661-6dup duplication PLXNA4-related disorder [RCV004730048] Chr7:132148651..132148652 [GRCh38]
Chr7:131833410..131833411 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.5174A>G (p.Asp1725Gly) single nucleotide variant PLXNA4-related disorder [RCV004724298] Chr7:132145170 [GRCh38]
Chr7:131829929 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_020911.2(PLXNA4):c.4056G>A (p.Leu1352=) single nucleotide variant PLXNA4-related disorder [RCV004730133] Chr7:132168534 [GRCh38]
Chr7:131853293 [GRCh37]
Chr7:7q32.3		 likely benign
NM_020911.2(PLXNA4):c.3765C>T (p.Ala1255=) single nucleotide variant PLXNA4-related disorder [RCV004730266] Chr7:132179796 [GRCh38]
Chr7:131864555 [GRCh37]
Chr7:7q32.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9586
Count of miRNA genes:1375
Interacting mature miRNAs:1838
Transcripts:ENST00000321063, ENST00000359827, ENST00000378539, ENST00000423507, ENST00000496550
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597211417GWAS1307491_Hmathematical ability QTL GWAS1307491 (human)8e-13mathematical ability7132263058132263059Human
597076628GWAS1172702_HFEV change measurement, response to bronchodilator QTL GWAS1172702 (human)0.0000005FEV change measurement, response to bronchodilatorrespiratory system measurement (CMO:0000094)7132371489132371490Human
597461786GWAS1557860_Hsmoking status measurement QTL GWAS1557860 (human)1e-08smoking status measurement7132616642132616643Human
597036956GWAS1133030_Hfemoral neck bone mineral density QTL GWAS1133030 (human)0.000001bone mineralization trait (VT:0002896)bone mineral density (CMO:0001226)7132134524132134525Human
597227410GWAS1323484_Halcohol consumption measurement QTL GWAS1323484 (human)1e-08response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)7132222789132222790Human
597318166GWAS1414240_H3-hydroxylaurate measurement QTL GWAS1414240 (human)0.00000023-hydroxylaurate measurement7132256451132256452Human
597030681GWAS1126755_Hself reported educational attainment QTL GWAS1126755 (human)2e-08self reported educational attainment7132347736132347737Human
597276951GWAS1373025_Halcohol drinking QTL GWAS1373025 (human)2e-08alcohol drinking7132174737132174738Human
597201303GWAS1297377_Hgestational diabetes QTL GWAS1297377 (human)0.000007gestational diabetes7132256451132256452Human
597118087GWAS1214161_Hself reported educational attainment QTL GWAS1214161 (human)3e-09self reported educational attainment7132276270132276271Human
597533068GWAS1629142_Halcohol consumption measurement QTL GWAS1629142 (human)0.0000006response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)7132610485132610486Human
597117060GWAS1213134_Hmathematical ability QTL GWAS1213134 (human)5e-13mathematical ability7132263058132263059Human
597221379GWAS1317453_Hbipolar disorder QTL GWAS1317453 (human)4e-08bipolar disorder7132185838132185839Human
597135755GWAS1231829_Heducational attainment QTL GWAS1231829 (human)5e-08educational attainment7132382409132382410Human
597318407GWAS1414481_Hlinolenate [alpha or gamma; 18:3n3 or 6] measurement QTL GWAS1414481 (human)0.000002linolenate [alpha or gamma; 18:3n3 or 6] measurement7132256451132256452Human
597135754GWAS1231828_Heducational attainment QTL GWAS1231828 (human)5e-09educational attainment7132344470132344471Human
597179526GWAS1275600_Halcohol consumption measurement QTL GWAS1275600 (human)1e-13response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)7132230748132230749Human
597135753GWAS1231827_Heducational attainment QTL GWAS1231827 (human)9e-13educational attainment7132242411132242412Human
597135752GWAS1231826_Heducational attainment QTL GWAS1231826 (human)2e-11educational attainment7132175058132175059Human
597394308GWAS1490382_Hsmoking behaviour measurement QTL GWAS1490382 (human)5e-08smoking behaviour measurement7132624833132624834Human
407048034GWAS697010_Heconomic and social preference QTL GWAS697010 (human)0.000007economic and social preference7132144369132144370Human
597135925GWAS1231999_Hsmoking initiation QTL GWAS1231999 (human)8e-20smoking initiation7132306898132306899Human
597471294GWAS1567368_Hchronotype measurement QTL GWAS1567368 (human)1e-08chronotype measurement7132609553132609554Human
597501243GWAS1597317_Hsmoking initiation QTL GWAS1597317 (human)6e-11smoking initiation7132621247132621248Human
597318834GWAS1414908_Hmetabolite measurement QTL GWAS1414908 (human)0.0000006metabolite measurement7132256451132256452Human
597112252GWAS1208326_Hprotein measurement QTL GWAS1208326 (human)3e-08protein measurement7132550003132550004Human
406957805GWAS606781_Hage-related hearing impairment QTL GWAS606781 (human)0.000008age-related hearing impairment7132208726132208727Human
597374135GWAS1470209_Hfatty acid measurement QTL GWAS1470209 (human)0.000005fatty acid measurement7132640550132640551Human
597093435GWAS1189509_H3-hydroxypropylmercapturic acid measurement QTL GWAS1189509 (human)0.0000043-hydroxypropylmercapturic acid measurement7132133338132133339Human
597333431GWAS1429505_Halcohol consumption measurement QTL GWAS1429505 (human)3e-13response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)7132235218132235219Human
597190966GWAS1287040_Hlevel of Phosphatidylcholine (18:2_18:2) in blood serum QTL GWAS1287040 (human)4e-09level of Phosphatidylcholine (18:2_18:2) in blood serum7132360780132360781Human
597506348GWAS1602422_Hsmoking initiation QTL GWAS1602422 (human)3e-14smoking initiation7132617312132617313Human
597125422GWAS1221496_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS1221496 (human)1e-09attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement7132569129132569130Human
597330849GWAS1426923_Hcolorectal cancer QTL GWAS1426923 (human)3e-09colorectal cancer7132350882132350883Human
597222183GWAS1318257_HParkinson's disease symptom measurement QTL GWAS1318257 (human)0.00001Parkinson's disease symptom measurement7132355774132355775Human
597076567GWAS1172641_HFEV change measurement, response to bronchodilator QTL GWAS1172641 (human)8e-08FEV change measurement, response to bronchodilatorrespiratory system measurement (CMO:0000094)7132371489132371490Human
597176414GWAS1272488_Hprotein measurement QTL GWAS1272488 (human)2e-20protein measurement7132553252132553253Human
597451735GWAS1547809_Hurate measurement, bone density QTL GWAS1547809 (human)6e-12bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)7132639053132639054Human
597117528GWAS1213602_Hcognitive function measurement QTL GWAS1213602 (human)7e-10cognitive function measurement7132263058132263059Human
597090758GWAS1186832_Hconcussion QTL GWAS1186832 (human)4e-09brain integrity trait (VT:0010579)7132167513132167514Human
597110723GWAS1206797_Hsmoking status measurement QTL GWAS1206797 (human)1e-08smoking status measurement7132377062132377063Human
407027608GWAS676584_Hforced expiratory volume QTL GWAS676584 (human)0.000002forced expiratory volumeforced expiratory volume (CMO:0000254)7132504930132504931Human
597617732GWAS1674592_Hintracranial hemorrhage QTL GWAS1674592 (human)3e-11intracranial hemorrhage7132633693132633694Human
597351674GWAS1447748_Hbody height QTL GWAS1447748 (human)1e-13body height (VT:0001253)body height (CMO:0000106)7132130359132130360Human
597351675GWAS1447749_Hbody height QTL GWAS1447749 (human)2e-10body height (VT:0001253)body height (CMO:0000106)7132181324132181325Human
597351678GWAS1447752_Hbody height QTL GWAS1447752 (human)7e-12body height (VT:0001253)body height (CMO:0000106)7132502137132502138Human
597477241GWAS1573315_Hsmoking status measurement QTL GWAS1573315 (human)2e-09smoking status measurement7132620174132620175Human
597110897GWAS1206971_HDNA methylation QTL GWAS1206971 (human)4e-10DNA methylation7132221537132221538Human
597351676GWAS1447750_Hbody height QTL GWAS1447750 (human)5e-13body height (VT:0001253)body height (CMO:0000106)7132335077132335078Human
597141360GWAS1237434_Hsmoking initiation QTL GWAS1237434 (human)1e-17smoking initiation7132306898132306899Human
597351677GWAS1447751_Hbody height QTL GWAS1447751 (human)3e-10body height (VT:0001253)body height (CMO:0000106)7132371396132371397Human
407099051GWAS748027_Hcognition QTL GWAS748027 (human)0.000007cognition7132130584132130585Human
597330930GWAS1427004_Htumor necrosis factor-alpha measurement, response to BCG intravesical immunotherapy QTL GWAS1427004 (human)1e-08tumor necrosis factor-alpha measurement, response to BCG intravesical immunotherapyinflammatory exudate tumor necrosis factor level (CMO:0001435)7132304739132304741Human
597296241GWAS1392315_Hceramide measurement QTL GWAS1392315 (human)5e-08ceramide measurement7132259717132259718Human
597252983GWAS1349057_Hurate measurement, bone density QTL GWAS1349057 (human)5e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)7132545743132545744Human
597505395GWAS1601469_Hsmoking initiation QTL GWAS1601469 (human)2e-15smoking initiation7132590063132590064Human
407051315GWAS700291_Hdiet measurement, HOMA-B QTL GWAS700291 (human)0.000003diet measurement, HOMA-BHomeostatic Model Assessment of Beta cell function (CMO:0003211)7132168842132168843Human
597109347GWAS1205421_Hmathematical ability QTL GWAS1205421 (human)4e-10mathematical ability7132263058132263059Human
407053239GWAS702215_Hnicotine dependence symptom count QTL GWAS702215 (human)0.000004nicotine dependence symptom count7132339906132339907Human
597236205GWAS1332279_Hblood protein measurement QTL GWAS1332279 (human)3e-23blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)7132507148132507149Human
596956642GWAS1076161_Halcohol consumption measurement QTL GWAS1076161 (human)0.0000006alcohol consumption measurementethanol drink intake rate (CMO:0001407)7132610485132610486Human
597321319GWAS1417393_Hmetabolite measurement QTL GWAS1417393 (human)0.000004metabolite measurement7132256451132256452Human
407050684GWAS699660_Haconitate measurement QTL GWAS699660 (human)0.000002aconitate measurement7132428428132428429Human
597100008GWAS1196082_Hprotein measurement QTL GWAS1196082 (human)6e-09protein measurement7132550003132550004Human
597391716GWAS1487790_Hsmoking behavior QTL GWAS1487790 (human)5e-09smoking behavior7132617489132617490Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2324 2788 2226 4914 1654 2182 2 558 1447 397 2222 6571 5957 27 3721 757 1670 1517 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001105543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_927546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA253415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB046770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD243425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR003088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ901020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000321063   ⟹   ENSP00000323194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7132,123,340 - 132,576,470 (-)Ensembl
Ensembl Acc Id: ENST00000359827   ⟹   ENSP00000352882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7132,123,341 - 132,577,301 (-)Ensembl
Ensembl Acc Id: ENST00000378539   ⟹   ENSP00000367800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7132,484,758 - 132,648,688 (-)Ensembl
Ensembl Acc Id: ENST00000423507   ⟹   ENSP00000392772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7132,383,488 - 132,576,470 (-)Ensembl
Ensembl Acc Id: ENST00000496550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7132,140,604 - 132,145,507 (-)Ensembl
RefSeq Acc Id: NM_001105543   ⟹   NP_001099013
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,383,492 - 132,576,470 (-)NCBI
Build 367131,718,787 - 131,911,863 (-)NCBI Archive
HuRef7126,124,398 - 126,649,403 (-)NCBI
CHM1_17132,003,504 - 132,196,854 (-)NCBI
T2T-CHM13v2.07133,704,785 - 133,897,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001393897   ⟹   NP_001380826
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,123,340 - 132,576,470 (-)NCBI
T2T-CHM13v2.07133,444,537 - 133,897,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020911   ⟹   NP_065962
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,123,340 - 132,576,470 (-)NCBI
Build 367131,458,631 - 131,911,863 (-)NCBI Archive
HuRef7126,124,398 - 126,649,403 (-)NCBI
CHM1_17131,743,547 - 132,196,854 (-)NCBI
T2T-CHM13v2.07133,444,537 - 133,897,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181775   ⟹   NP_861440
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,484,762 - 132,648,688 (-)NCBI
Build 367131,820,061 - 131,983,987 (-)NCBI Archive
HuRef7126,124,398 - 126,649,403 (-)NCBI
CHM1_17132,104,781 - 132,268,963 (-)NCBI
T2T-CHM13v2.07133,806,045 - 133,970,190 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716171   ⟹   XP_006716234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,123,340 - 132,576,470 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516676   ⟹   XP_011514978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,168,929 - 132,576,470 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012779   ⟹   XP_016868268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,123,340 - 132,576,470 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421017   ⟹   XP_047276973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,123,340 - 132,576,470 (-)NCBI
RefSeq Acc Id: XM_047421018   ⟹   XP_047276974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,173,324 - 132,576,470 (-)NCBI
RefSeq Acc Id: XM_047421019   ⟹   XP_047276975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,383,492 - 132,576,470 (-)NCBI
RefSeq Acc Id: XM_054359308   ⟹   XP_054215283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07133,444,537 - 133,897,758 (-)NCBI
RefSeq Acc Id: XM_054359309   ⟹   XP_054215284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07133,444,537 - 133,897,758 (-)NCBI
RefSeq Acc Id: XM_054359310   ⟹   XP_054215285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07133,444,537 - 133,897,758 (-)NCBI
RefSeq Acc Id: XM_054359311   ⟹   XP_054215286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07133,490,229 - 133,897,758 (-)NCBI
RefSeq Acc Id: XM_054359312   ⟹   XP_054215287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07133,704,785 - 133,897,758 (-)NCBI
RefSeq Acc Id: XR_008487773
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07133,489,817 - 133,897,758 (-)NCBI
RefSeq Acc Id: XR_927546
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,168,517 - 132,576,470 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001099013 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380826 (Get FASTA)   NCBI Sequence Viewer  
  NP_065962 (Get FASTA)   NCBI Sequence Viewer  
  NP_861440 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716234 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514978 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868268 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276973 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276974 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276975 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215287 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH28744 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89209 (Get FASTA)   NCBI Sequence Viewer  
  ADO22537 (Get FASTA)   NCBI Sequence Viewer  
  BAB13376 (Get FASTA)   NCBI Sequence Viewer  
  BAC04587 (Get FASTA)   NCBI Sequence Viewer  
  BAC85615 (Get FASTA)   NCBI Sequence Viewer  
  CAB70707 (Get FASTA)   NCBI Sequence Viewer  
  CAD39161 (Get FASTA)   NCBI Sequence Viewer  
  EAL24076 (Get FASTA)   NCBI Sequence Viewer  
  EAL24077 (Get FASTA)   NCBI Sequence Viewer  
  EAW83793 (Get FASTA)   NCBI Sequence Viewer  
  EAW83794 (Get FASTA)   NCBI Sequence Viewer  
  EAW83795 (Get FASTA)   NCBI Sequence Viewer  
  EAW83796 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000323194
  ENSP00000323194.4
  ENSP00000352882
  ENSP00000352882.3
  ENSP00000367800
  ENSP00000367800.5
  ENSP00000392772
  ENSP00000392772.2
GenBank Protein Q9HCM2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_065962   ⟸   NM_020911
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9NTD4 (UniProtKB/Swiss-Prot),   Q9HCM2 (UniProtKB/Swiss-Prot),   Q8NEN3 (UniProtKB/Swiss-Prot),   Q8ND00 (UniProtKB/Swiss-Prot),   Q8N969 (UniProtKB/Swiss-Prot),   Q6ZW89 (UniProtKB/Swiss-Prot),   A4D1N6 (UniProtKB/Swiss-Prot),   Q6UWC6 (UniProtKB/Swiss-Prot),   E9PAM2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001099013   ⟸   NM_001105543
- Peptide Label: isoform 3 precursor
- UniProtKB: A0A384NYW6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_861440   ⟸   NM_181775
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A384NYW6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716234   ⟸   XM_006716171
- Peptide Label: isoform X1
- UniProtKB: Q9NTD4 (UniProtKB/Swiss-Prot),   Q9HCM2 (UniProtKB/Swiss-Prot),   Q8NEN3 (UniProtKB/Swiss-Prot),   Q8ND00 (UniProtKB/Swiss-Prot),   Q8N969 (UniProtKB/Swiss-Prot),   Q6ZW89 (UniProtKB/Swiss-Prot),   Q6UWC6 (UniProtKB/Swiss-Prot),   E9PAM2 (UniProtKB/Swiss-Prot),   A4D1N6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011514978   ⟸   XM_011516676
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868268   ⟸   XM_017012779
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000392772   ⟸   ENST00000423507
Ensembl Acc Id: ENSP00000352882   ⟸   ENST00000359827
Ensembl Acc Id: ENSP00000323194   ⟸   ENST00000321063
Ensembl Acc Id: ENSP00000367800   ⟸   ENST00000378539
RefSeq Acc Id: NP_001380826   ⟸   NM_001393897
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9NTD4 (UniProtKB/Swiss-Prot),   Q9HCM2 (UniProtKB/Swiss-Prot),   Q8NEN3 (UniProtKB/Swiss-Prot),   Q8ND00 (UniProtKB/Swiss-Prot),   Q8N969 (UniProtKB/Swiss-Prot),   Q6ZW89 (UniProtKB/Swiss-Prot),   Q6UWC6 (UniProtKB/Swiss-Prot),   E9PAM2 (UniProtKB/Swiss-Prot),   A4D1N6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047276973   ⟸   XM_047421017
- Peptide Label: isoform X1
- UniProtKB: Q9NTD4 (UniProtKB/Swiss-Prot),   Q9HCM2 (UniProtKB/Swiss-Prot),   Q8NEN3 (UniProtKB/Swiss-Prot),   Q8ND00 (UniProtKB/Swiss-Prot),   Q8N969 (UniProtKB/Swiss-Prot),   Q6ZW89 (UniProtKB/Swiss-Prot),   Q6UWC6 (UniProtKB/Swiss-Prot),   E9PAM2 (UniProtKB/Swiss-Prot),   A4D1N6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047276974   ⟸   XM_047421018
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047276975   ⟸   XM_047421019
- Peptide Label: isoform X4
- UniProtKB: A0A384NYW6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215285   ⟸   XM_054359310
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054215283   ⟸   XM_054359308
- Peptide Label: isoform X1
- UniProtKB: Q9NTD4 (UniProtKB/Swiss-Prot),   Q9HCM2 (UniProtKB/Swiss-Prot),   Q8NEN3 (UniProtKB/Swiss-Prot),   Q8ND00 (UniProtKB/Swiss-Prot),   Q8N969 (UniProtKB/Swiss-Prot),   Q6ZW89 (UniProtKB/Swiss-Prot),   Q6UWC6 (UniProtKB/Swiss-Prot),   E9PAM2 (UniProtKB/Swiss-Prot),   A4D1N6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054215284   ⟸   XM_054359309
- Peptide Label: isoform X1
- UniProtKB: Q9NTD4 (UniProtKB/Swiss-Prot),   Q9HCM2 (UniProtKB/Swiss-Prot),   Q8NEN3 (UniProtKB/Swiss-Prot),   Q8ND00 (UniProtKB/Swiss-Prot),   Q8N969 (UniProtKB/Swiss-Prot),   Q6ZW89 (UniProtKB/Swiss-Prot),   Q6UWC6 (UniProtKB/Swiss-Prot),   E9PAM2 (UniProtKB/Swiss-Prot),   A4D1N6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054215286   ⟸   XM_054359311
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054215287   ⟸   XM_054359312
- Peptide Label: isoform X4
- UniProtKB: A0A384NYW6 (UniProtKB/TrEMBL)
Protein Domains
IPT/TIG   PSI   Sema

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HCM2-F1-model_v2 AlphaFold Q9HCM2 1-1894 view protein structure

Promoters
RGD ID:7211949
Promoter ID:EPDNEW_H11720
Type:initiation region
Name:PLXNA4_1
Description:plexin A4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387132,577,315 - 132,577,375EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9102 AgrOrtholog
COSMIC PLXNA4 COSMIC
Ensembl Genes ENSG00000221866 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000321063 ENTREZGENE
  ENST00000321063.9 UniProtKB/Swiss-Prot
  ENST00000359827 ENTREZGENE
  ENST00000359827.7 UniProtKB/Swiss-Prot
  ENST00000378539 ENTREZGENE
  ENST00000378539.5 UniProtKB/Swiss-Prot
  ENST00000423507 ENTREZGENE
  ENST00000423507.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTPase Activation - p120gap, domain 1 UniProtKB/Swiss-Prot
  Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000221866 GTEx
HGNC ID HGNC:9102 ENTREZGENE
Human Proteome Map PLXNA4 Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IPT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plexin_cytoplasmic_RasGAP_dom UniProtKB/Swiss-Prot
  Plexin_RBD UniProtKB/Swiss-Prot
  Plexin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot
  Semap_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semap_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG1_plexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG2_plexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91584 UniProtKB/Swiss-Prot
NCBI Gene PLXNA4 ENTREZGENE
OMIM 604280 OMIM
PANTHER PLEXIN-A4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22625 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Plexin_cytopl UniProtKB/Swiss-Prot
  Plexin_RBD UniProtKB/Swiss-Prot
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG_plexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162399757 PharmGKB
PROSITE SEMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Plexin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF101912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48350 UniProtKB/Swiss-Prot
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NYW6 ENTREZGENE, UniProtKB/TrEMBL
  A4D1N6 ENTREZGENE
  A4D1N7_HUMAN UniProtKB/TrEMBL
  E9PAM2 ENTREZGENE
  PLXA4_HUMAN UniProtKB/Swiss-Prot
  Q6UWC6 ENTREZGENE
  Q6ZW89 ENTREZGENE
  Q8N969 ENTREZGENE
  Q8ND00 ENTREZGENE
  Q8NEN3 ENTREZGENE
  Q9HCM2 ENTREZGENE
  Q9NTD4 ENTREZGENE
UniProt Secondary A4D1N6 UniProtKB/Swiss-Prot
  E9PAM2 UniProtKB/Swiss-Prot
  Q6UWC6 UniProtKB/Swiss-Prot
  Q6ZW89 UniProtKB/Swiss-Prot
  Q8N969 UniProtKB/Swiss-Prot
  Q8ND00 UniProtKB/Swiss-Prot
  Q8NEN3 UniProtKB/Swiss-Prot
  Q9NTD4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 PLXNA4  plexin A4  PLXNA4A  plexin A4, A  Data merged from RGD:1351830 737654 PROVISIONAL
2014-09-17 PLXNA4  plexin A4  PLXNA4B  plexin A4, B  Symbol and/or name change 5135510 APPROVED