ARHGEF10 (Rho guanine nucleotide exchange factor 10) - Rat Genome Database

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Gene: ARHGEF10 (Rho guanine nucleotide exchange factor 10) Homo sapiens
Analyze
Symbol: ARHGEF10
Name: Rho guanine nucleotide exchange factor 10
RGD ID: 1346816
HGNC Page HGNC:14103
Description: Enables guanyl-nucleotide exchange factor activity and kinesin binding activity. Involved in microtubule cytoskeleton organization; myelination in peripheral nervous system; and positive regulation of stress fiber assembly. Located in centrosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686H0726; GEF10; MGC131664; Rho guanine nucleotide exchange factor (GEF) 10; SNCV
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3881,823,300 - 1,958,641 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl81,823,926 - 1,958,641 (+)EnsemblGRCh38hg38GRCh38
GRCh3781,772,092 - 1,906,807 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3681,759,556 - 1,894,214 (+)NCBINCBI36Build 36hg18NCBI36
Build 3481,808,165 - 1,894,206NCBI
Celera81,715,545 - 1,849,273 (+)NCBICelera
Cytogenetic Map8p23.3NCBI
HuRef81,586,197 - 1,723,095 (+)NCBIHuRef
CHM1_181,772,111 - 1,906,332 (+)NCBICHM1_1
T2T-CHM13v2.081,601,800 - 1,736,745 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centrosome  (IBA,IDA,IEA)
cytosol  (NAS,TAS)

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. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9205841   PMID:9314494   PMID:12168954   PMID:12477932   PMID:14508709   PMID:15146197   PMID:15489334   PMID:16896804   PMID:17893707   PMID:19615732   PMID:19635168   PMID:20042462  
PMID:20379614   PMID:21719701   PMID:21743172   PMID:21873635   PMID:22863883   PMID:23412934   PMID:25343990   PMID:26143528   PMID:26186194   PMID:26760575   PMID:27550519   PMID:27934548  
PMID:28448737   PMID:28514442   PMID:29246731   PMID:29507755   PMID:29568061   PMID:30021884   PMID:31372216   PMID:31477830   PMID:32203420   PMID:32296183   PMID:33658012   PMID:33711283  
PMID:33957083   PMID:33961781   PMID:34079125   PMID:34672954   PMID:35337019   PMID:35384245   PMID:35439318   PMID:35914814   PMID:36215168   PMID:36931259   PMID:37232246   PMID:38113892  


Genomics

Comparative Map Data
ARHGEF10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3881,823,300 - 1,958,641 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl81,823,926 - 1,958,641 (+)EnsemblGRCh38hg38GRCh38
GRCh3781,772,092 - 1,906,807 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3681,759,556 - 1,894,214 (+)NCBINCBI36Build 36hg18NCBI36
Build 3481,808,165 - 1,894,206NCBI
Celera81,715,545 - 1,849,273 (+)NCBICelera
Cytogenetic Map8p23.3NCBI
HuRef81,586,197 - 1,723,095 (+)NCBIHuRef
CHM1_181,772,111 - 1,906,332 (+)NCBICHM1_1
T2T-CHM13v2.081,601,800 - 1,736,745 (+)NCBIT2T-CHM13v2.0
Arhgef10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39814,956,405 - 15,051,085 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl814,961,663 - 15,051,085 (+)EnsemblGRCm39 Ensembl
GRCm38814,906,412 - 15,001,085 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl814,911,663 - 15,001,085 (+)EnsemblGRCm38mm10GRCm38
MGSCv37814,911,717 - 15,001,085 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36814,928,877 - 15,000,415 (+)NCBIMGSCv36mm8
Celera815,075,995 - 15,165,401 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map87.59NCBI
Arhgef10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81681,349,429 - 81,440,439 (-)NCBIGRCr8
mRatBN7.21674,647,147 - 74,738,784 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1674,647,153 - 74,738,173 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01679,725,629 - 79,817,065 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1679,725,643 - 79,793,619 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01679,302,340 - 79,392,426 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41679,458,304 - 79,547,225 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1672,465,044 - 72,554,359 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Arhgef10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540357,818,837 - 57,907,324 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540357,820,003 - 57,907,324 (-)NCBIChiLan1.0ChiLan1.0
ARHGEF10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2716,542,465 - 16,702,258 (+)NCBINHGRI_mPanPan1-v2
Mhudiblu_PPA_v085,381,357 - 5,541,094 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.181,747,801 - 1,862,917 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl81,724,413 - 1,862,917 (+)Ensemblpanpan1.1panPan2
ARHGEF10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11654,293,534 - 54,378,706 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1654,293,435 - 54,347,555 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1649,689,515 - 49,778,687 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01661,881,132 - 61,970,321 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11654,329,445 - 54,418,473 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01659,789,595 - 59,878,802 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01660,173,735 - 60,263,094 (-)NCBIUU_Cfam_GSD_1.0
Arhgef10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049431,011,978 - 1,103,474 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366151,048,536 - 1,102,242 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366151,012,009 - 1,103,468 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGEF10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1533,370,126 - 33,446,598 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11533,370,093 - 33,465,852 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21537,931,757 - 37,986,440 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGEF10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.181,487,076 - 1,620,387 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl81,502,226 - 1,620,389 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605443,381,468 - 43,516,813 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arhgef10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248611,006,948 - 1,082,106 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624861992,824 - 1,083,048 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARHGEF10
651 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000521194] Chr8:1858055 [GRCh38]
Chr8:1806221 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.995C>T (p.Thr332Ile) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000002634] Chr8:1882669 [GRCh38]
Chr8:1830835 [GRCh37]
Chr8:8p23.3		 pathogenic
NM_014629.4(ARHGEF10):c.193G>A (p.Gly65Arg) single nucleotide variant not provided [RCV000520161] Chr8:1858115 [GRCh38]
Chr8:1806281 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.577C>T (p.Leu193Phe) single nucleotide variant not provided [RCV001508230] Chr8:1866557 [GRCh38]
Chr8:1814723 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.971T>C (p.Leu324Pro) single nucleotide variant not provided [RCV001508231] Chr8:1882645 [GRCh38]
Chr8:1830811 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3020C>T (p.Ser1007Phe) single nucleotide variant not provided [RCV001508235] Chr8:1929384 [GRCh38]
Chr8:1877550 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh38/hg38 8p23.3(chr8:244617-2017223)x1 copy number loss See cases [RCV000050296] Chr8:244617..2017223 [GRCh38]
Chr8:194617..1965389 [GRCh37]
Chr8:184617..2121457 [NCBI36]
Chr8:8p23.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000050621] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1 copy number loss See cases [RCV000050427] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:1891352-3929104)x1 copy number loss See cases [RCV000052748] Chr8:1891352..3929104 [GRCh38]
Chr8:1839518..3786626 [GRCh37]
Chr8:1826925..3774034 [NCBI36]
Chr8:8p23.3-23.2		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 copy number gain See cases [RCV000053600] Chr8:96310..12021806 [GRCh38]
Chr8:46310..11879315 [GRCh37]
Chr8:36310..11916724 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3 copy number gain See cases [RCV000053601] Chr8:219853..10165486 [GRCh38]
Chr8:169853..10022996 [GRCh37]
Chr8:159853..10060406 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3(chr8:202100-2017223)x1 copy number loss See cases [RCV000054204] Chr8:202100..2017223 [GRCh38]
Chr8:152100..1965389 [GRCh37]
Chr8:142100..2111713 [NCBI36]
Chr8:8p23.3		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1 copy number loss See cases [RCV000054205] Chr8:219853..3814398 [GRCh38]
Chr8:169853..3671920 [GRCh37]
Chr8:159853..3659328 [NCBI36]
Chr8:8p23.3-23.2		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1 copy number loss See cases [RCV000054206] Chr8:219853..7084815 [GRCh38]
Chr8:169853..6942337 [GRCh37]
Chr8:159853..6929747 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3(chr8:241330-1847998)x1 copy number loss See cases [RCV000054208] Chr8:241330..1847998 [GRCh38]
Chr8:191330..1796164 [GRCh37]
Chr8:181330..1783571 [NCBI36]
Chr8:8p23.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1 copy number loss See cases [RCV000054219] Chr8:241530..7195723 [GRCh38]
Chr8:191530..7053245 [GRCh37]
Chr8:181530..7040655 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1 copy number loss See cases [RCV000054220] Chr8:241530..3701826 [GRCh38]
Chr8:191530..3559348 [GRCh37]
Chr8:181530..3546756 [NCBI36]
Chr8:8p23.3-23.2		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:241530-4929678)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054221]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054221]|See cases [RCV000054221] Chr8:241530..4929678 [GRCh38]
Chr8:191530..4787200 [GRCh37]
Chr8:181530..4774608 [NCBI36]
Chr8:8p23.3-23.2		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:241530-4388060)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054223]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054223]|See cases [RCV000054223] Chr8:241530..4388060 [GRCh38]
Chr8:191530..4245582 [GRCh37]
Chr8:181530..4232990 [NCBI36]
Chr8:8p23.3-23.2		 pathogenic
GRCh38/hg38 8p23.3(chr8:1739267-1891412)x1 copy number loss See cases [RCV000054224] Chr8:1739267..1891412 [GRCh38]
Chr8:1687433..1839578 [GRCh37]
Chr8:1674840..1826985 [NCBI36]
Chr8:8p23.3		 pathogenic
NM_014629.2(ARHGEF10):c.2253C>T (p.Asn751=) single nucleotide variant Malignant melanoma [RCV000068231] Chr8:1923073 [GRCh38]
Chr8:1871239 [GRCh37]
Chr8:1858646 [NCBI36]
Chr8:8p23.3		 not provided
NM_014629.2(ARHGEF10):c.*894G>C single nucleotide variant Lung cancer [RCV000107258] Chr8:1958157 [GRCh38]
Chr8:1906323 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3869C>T (p.Ser1290Leu) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001285987]|not provided [RCV001871680] Chr8:1957097 [GRCh38]
Chr8:1905263 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV003137643]|Charcot-Marie-Tooth disease [RCV000144884]|not provided [RCV000144070] Chr8:1882687 [GRCh38]
Chr8:1830853 [GRCh37]
Chr8:8p23.3		 likely pathogenic|uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV003603043]|Charcot-Marie-Tooth disease [RCV000144885]|not provided [RCV000755828] Chr8:1923017 [GRCh38]
Chr8:1871183 [GRCh37]
Chr8:8p23.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1 copy number loss See cases [RCV000135293] Chr8:410369..7477103 [GRCh38]
Chr8:360369..7334625 [GRCh37]
Chr8:350369..7322035 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 copy number loss See cases [RCV000134879] Chr8:241530..10191595 [GRCh38]
Chr8:191530..10049105 [GRCh37]
Chr8:181530..10086515 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:241530-3212774)x1 copy number loss See cases [RCV000134919] Chr8:241530..3212774 [GRCh38]
Chr8:191530..3070296 [GRCh37]
Chr8:181530..3057703 [NCBI36]
Chr8:8p23.3-23.2		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3 copy number gain See cases [RCV000135437] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1 copy number loss See cases [RCV000135534] Chr8:241530..10867132 [GRCh38]
Chr8:191530..10724642 [GRCh37]
Chr8:181530..10762052 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3 copy number gain See cases [RCV000135993] Chr8:241605..7022824 [GRCh38]
Chr8:191605..6880346 [GRCh37]
Chr8:181605..6867756 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1 copy number loss See cases [RCV000135994] Chr8:241605..7022824 [GRCh38]
Chr8:191605..6880346 [GRCh37]
Chr8:181605..6867756 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1 copy number loss See cases [RCV000136824] Chr8:241530..7056554 [GRCh38]
Chr8:191530..6914076 [GRCh37]
Chr8:181530..6901486 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1 copy number loss See cases [RCV000136737] Chr8:241530..3331813 [GRCh38]
Chr8:191530..3189335 [GRCh37]
Chr8:181530..3176742 [NCBI36]
Chr8:8p23.3-23.2		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1 copy number loss See cases [RCV000137258] Chr8:226452..3189683 [GRCh38]
Chr8:176452..3047205 [GRCh37]
Chr8:166452..3034612 [NCBI36]
Chr8:8p23.3-23.2		 likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3 copy number gain See cases [RCV000137206] Chr8:782690..8222398 [GRCh38]
Chr8:732690..8079920 [GRCh37]
Chr8:722690..8117330 [NCBI36]
Chr8:8p23.3-23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 copy number gain See cases [RCV000137984] Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3 copy number gain See cases [RCV000138228] Chr8:226452..7981437 [GRCh38]
Chr8:176452..7838959 [GRCh37]
Chr8:166452..7876369 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1 copy number loss See cases [RCV000139342] Chr8:226452..7062751 [GRCh38]
Chr8:176452..6920273 [GRCh37]
Chr8:166452..6907683 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1 copy number loss See cases [RCV000139442] Chr8:226452..7084815 [GRCh38]
Chr8:176452..6942337 [GRCh37]
Chr8:166452..6929747 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:226452-2767932)x1 copy number loss See cases [RCV000139034] Chr8:226452..2767932 [GRCh38]
Chr8:176452..2625470 [GRCh37]
Chr8:166452..2612877 [NCBI36]
Chr8:8p23.3-23.2		 likely pathogenic|uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1 copy number loss See cases [RCV000140443] Chr8:208048..7124466 [GRCh38]
Chr8:158048..6981988 [GRCh37]
Chr8:148048..6969398 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1 copy number loss See cases [RCV000139890] Chr8:208048..7141592 [GRCh38]
Chr8:158048..6999114 [GRCh37]
Chr8:148048..6986524 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3(chr8:1786547-1944616)x3 copy number gain See cases [RCV000141290] Chr8:1786547..1944616 [GRCh38]
Chr8:1734713..1892782 [GRCh37]
Chr8:1722120..1880189 [NCBI36]
Chr8:8p23.3		 uncertain significance
GRCh38/hg38 8p23.3(chr8:1822990-1874458)x3 copy number gain See cases [RCV000141305] Chr8:1822990..1874458 [GRCh38]
Chr8:1771156..1822624 [GRCh37]
Chr8:1758563..1810031 [NCBI36]
Chr8:8p23.3		 uncertain significance
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3(chr8:226452-2017223)x1 copy number loss See cases [RCV000140845] Chr8:226452..2017223 [GRCh38]
Chr8:176452..1965389 [GRCh37]
Chr8:166452..2121457 [NCBI36]
Chr8:8p23.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1 copy number loss See cases [RCV000142811] Chr8:226452..4316172 [GRCh38]
Chr8:176452..4173694 [GRCh37]
Chr8:166452..4161102 [NCBI36]
Chr8:8p23.3-23.2		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1 copy number loss See cases [RCV000142596] Chr8:241530..10458484 [GRCh38]
Chr8:191530..10315994 [GRCh37]
Chr8:181530..10353404 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3 copy number gain See cases [RCV000143378] Chr8:208048..7141698 [GRCh38]
Chr8:158048..6999220 [GRCh37]
Chr8:148048..6986630 [NCBI36]
Chr8:8p23.3-23.1		 uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 copy number gain See cases [RCV000143248] Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4 copy number gain See cases [RCV000143758] Chr8:208048..7186524 [GRCh38]
Chr8:158048..7044046 [GRCh37]
Chr8:148048..7031456 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1 copy number loss See cases [RCV000143654] Chr8:208048..5615542 [GRCh38]
Chr8:158048..5473064 [GRCh37]
Chr8:148048..5460472 [NCBI36]
Chr8:8p23.3-23.2		 likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1 copy number loss See cases [RCV000143507] Chr8:208048..7087252 [GRCh38]
Chr8:158048..6944774 [GRCh37]
Chr8:148048..6932184 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1 copy number loss See cases [RCV000148128] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000148253] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3(chr8:244617-2017223)x1 copy number loss See cases [RCV000148251] Chr8:244617..2017223 [GRCh38]
Chr8:194617..1965389 [GRCh37]
Chr8:184617..2121457 [NCBI36]
Chr8:8p23.3		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3 copy number gain See cases [RCV000240124] Chr8:158991..13304906 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6944233)x1 copy number loss See cases [RCV000446038] Chr8:158048..6944233 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.831C>G (p.Asn277Lys) single nucleotide variant not provided [RCV000755829] Chr8:1876722 [GRCh38]
Chr8:1824888 [GRCh37]
Chr8:8p23.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.3(chr8:184617-2136799) copy number loss not provided [RCV000767675] Chr8:184617..2136799 [GRCh37]
Chr8:8p23.3		 likely pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444) copy number loss Tetralogy of Fallot [RCV000767677] Chr8:194617..7787444 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.1911A>G (p.Lys637=) single nucleotide variant not provided [RCV000757005] Chr8:1905660 [GRCh38]
Chr8:1853826 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) single nucleotide variant ARHGEF10-related condition [RCV003975302]|Autosomal dominant slowed nerve conduction velocity [RCV000757006]|Charcot-Marie-Tooth disease [RCV000789723]|not provided [RCV001672950] Chr8:1885635 [GRCh38]
Chr8:1833801 [GRCh37]
Chr8:8p23.3		 benign|uncertain significance
NM_014629.4(ARHGEF10):c.1113C>T (p.Phe371=) single nucleotide variant ARHGEF10-related condition [RCV003928259]|Autosomal dominant slowed nerve conduction velocity [RCV000757007]|not provided [RCV001655591] Chr8:1885638 [GRCh38]
Chr8:1833804 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1884876-1993327)x4 copy number gain See cases [RCV000239960] Chr8:1884876..1993327 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3 copy number gain See cases [RCV000239409] Chr8:164984..11860845 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:190822-6735381)x1 copy number loss See cases [RCV000240454] Chr8:190822..6735381 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.2401A>G (p.Thr801Ala) single nucleotide variant Inborn genetic diseases [RCV003266657] Chr8:1923787 [GRCh38]
Chr8:1871953 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2741C>T (p.Ser914Leu) single nucleotide variant not provided [RCV000521096] Chr8:1928470 [GRCh38]
Chr8:1876636 [GRCh37]
Chr8:8p23.3		 uncertain significance
Single allele deletion not provided [RCV000768453] Chr8:155001..6955001 [GRCh37]
Chr8:8p23.3-23.1		 likely pathogenic
NM_014629.4(ARHGEF10):c.630G>A (p.Glu210=) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000608905]|not provided [RCV001613404]|not specified [RCV001701118] Chr8:1869201 [GRCh38]
Chr8:1817367 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3398-16A>G single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000609339]|not provided [RCV002066918]|not specified [RCV001700249] Chr8:1952689 [GRCh38]
Chr8:1900855 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2045C>T (p.Ala682Val) single nucleotide variant not provided [RCV001508233]|not specified [RCV000414710] Chr8:1909372 [GRCh38]
Chr8:1857538 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2658C>A (p.Ser886Arg) single nucleotide variant not provided [RCV000415830] Chr8:1926424 [GRCh38]
Chr8:1874590 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2748A>G (p.Gln916=) single nucleotide variant not provided [RCV000416175] Chr8:1928477 [GRCh38]
Chr8:1876643 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000415093]|not provided [RCV001508234]|not specified [RCV001731670] Chr8:1909390 [GRCh38]
Chr8:1857556 [GRCh37]
Chr8:8p23.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6460877)x1 copy number loss See cases [RCV000449227] Chr8:158048..6460877 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:190822-6735327)x1 copy number loss See cases [RCV000446817] Chr8:190822..6735327 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:163166-6735327)x1 copy number loss See cases [RCV000447564] Chr8:163166..6735327 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_014629.4(ARHGEF10):c.2134G>T (p.Ala712Ser) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001330527]|not specified [RCV000421442] Chr8:1909461 [GRCh38]
Chr8:1857627 [GRCh37]
Chr8:8p23.3		 likely benign|uncertain significance
NM_014629.4(ARHGEF10):c.3589C>T (p.His1197Tyr) single nucleotide variant Inborn genetic diseases [RCV002524728]|not provided [RCV000430108] Chr8:1956817 [GRCh38]
Chr8:1904983 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2768T>C (p.Ile923Thr) single nucleotide variant Inborn genetic diseases [RCV003243128]|not provided [RCV000420362] Chr8:1928497 [GRCh38]
Chr8:1876663 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1 copy number loss See cases [RCV000447872] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.3(chr8:1445011-1797072) copy number gain Abnormal esophagus morphology [RCV000416706] Chr8:1445011..1797072 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1711955-2100729)x3 copy number gain See cases [RCV000447769] Chr8:1711955..2100729 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:1166068-12570914)x3 copy number gain See cases [RCV000448692] Chr8:1166068..12570914 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1 copy number loss See cases [RCV000510201] Chr8:158048..13309069 [GRCh37]
Chr8:8p23.3-22		 likely pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:158048-6004205)x1 copy number loss See cases [RCV000510446] Chr8:158048..6004205 [GRCh37]
Chr8:8p23.3-23.2		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_014629.4(ARHGEF10):c.3403C>G (p.Gln1135Glu) single nucleotide variant not provided [RCV000497803] Chr8:1952710 [GRCh38]
Chr8:1900876 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6982980)x1 copy number loss See cases [RCV000510343] Chr8:158048..6982980 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.38-10T>C single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000625164]|not provided [RCV000959003]|not specified [RCV001706652] Chr8:1857950 [GRCh38]
Chr8:1806116 [GRCh37]
Chr8:8p23.3		 benign|likely benign
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) single nucleotide variant ARHGEF10-related condition [RCV003915407]|Autosomal dominant slowed nerve conduction velocity [RCV000625166]|not provided [RCV002060166]|not specified [RCV001706651] Chr8:1909425 [GRCh38]
Chr8:1857591 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x3 copy number gain See cases [RCV000511784] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1		 uncertain significance
NM_014629.4(ARHGEF10):c.2728A>G (p.Ile910Val) single nucleotide variant not specified [RCV000507956] Chr8:1928457 [GRCh38]
Chr8:1876623 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-9749574)x1 copy number loss See cases [RCV000510827] Chr8:158048..9749574 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-7044046)x1 copy number loss See cases [RCV000511133] Chr8:158048..7044046 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_014629.4(ARHGEF10):c.1075+13A>G single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000616940]|not provided [RCV001672897]|not specified [RCV001700256] Chr8:1882762 [GRCh38]
Chr8:1830928 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2143+13T>G single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000603344]|not provided [RCV001712715]|not specified [RCV001701119] Chr8:1909483 [GRCh38]
Chr8:1857649 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3-23.1(chr8:191530-6644251) copy number loss Intellectual disability [RCV000626543] Chr8:191530..6644251 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000625168]|not provided [RCV000892341]|not specified [RCV001698669] Chr8:1928541 [GRCh38]
Chr8:1876707 [GRCh37]
Chr8:8p23.3		 benign|likely benign
NM_014629.4(ARHGEF10):c.2259+8T>C single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000625167]|not provided [RCV001701125] Chr8:1923087 [GRCh38]
Chr8:1871253 [GRCh37]
Chr8:8p23.3		 likely benign
GRCh37/hg19 8p23.3-23.2(chr8:1608588-2324956)x3 copy number gain See cases [RCV000512255] Chr8:1608588..2324956 [GRCh37]
Chr8:8p23.3-23.2		 likely benign
NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=) single nucleotide variant ARHGEF10-related condition [RCV003980211]|Autosomal dominant slowed nerve conduction velocity [RCV000625165]|not provided [RCV002060696]|not specified [RCV001700416] Chr8:1858063 [GRCh38]
Chr8:1806229 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918) copy number loss Autism [RCV000626544] Chr8:194617..6816918 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.387A>G (p.Val129=) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000602920]|not provided [RCV001683610]|not specified [RCV001701398] Chr8:1860090 [GRCh38]
Chr8:1808256 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3-23.2(chr8:158048-5474927)x1 copy number loss See cases [RCV000512599] Chr8:158048..5474927 [GRCh37]
Chr8:8p23.3-23.2		 pathogenic
NM_014629.4(ARHGEF10):c.3330T>G (p.Phe1110Leu) single nucleotide variant not provided [RCV000659093] Chr8:1945588 [GRCh38]
Chr8:1893754 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3(chr8:1668896-1924210)x3 copy number gain not provided [RCV000682961] Chr8:1668896..1924210 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3(chr8:1500844-1854917)x3 copy number gain not provided [RCV000682974] Chr8:1500844..1854917 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1 copy number loss not provided [RCV000683032] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1 copy number loss not provided [RCV000683036] Chr8:158048..10939681 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1688011-3000081)x3 copy number gain not provided [RCV000683009] Chr8:1688011..3000081 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:158048-4847772)x1 copy number loss not provided [RCV000683029] Chr8:158048..4847772 [GRCh37]
Chr8:8p23.3-23.2		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2 copy number gain not provided [RCV000683037] Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3 copy number gain not provided [RCV000683034] Chr8:158048..9750676 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3 copy number gain not provided [RCV000683040] Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:158048-3096405)x3 copy number gain not provided [RCV000683022] Chr8:158048..3096405 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV000722105] Chr8:1903350 [GRCh38]
Chr8:1851516 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2493G>A (p.Glu831=) single nucleotide variant not provided [RCV001531700] Chr8:1925287 [GRCh38]
Chr8:1873453 [GRCh37]
Chr8:8p23.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-8948469)x1 copy number loss not provided [RCV000747246] Chr8:10213..8948469 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-10197718)x1 copy number loss not provided [RCV000747247] Chr8:10213..10197718 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:164984-10007227)x1 copy number loss not provided [RCV000747253] Chr8:164984..10007227 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3(chr8:1832844-1838167)x1 copy number loss not provided [RCV000747269] Chr8:1832844..1838167 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1832844-1838287)x0 copy number loss not provided [RCV000747270] Chr8:1832844..1838287 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1833801-1837837)x3 copy number gain not provided [RCV000747271] Chr8:1833801..1837837 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1833801-1837912)x0 copy number loss not provided [RCV000747272] Chr8:1833801..1837912 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1833801-1838038)x1 copy number loss not provided [RCV000747273] Chr8:1833801..1838038 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1833801-1838167)x1 copy number loss not provided [RCV000747274] Chr8:1833801..1838167 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1833801-1838287)x0 copy number loss not provided [RCV000747275] Chr8:1833801..1838287 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1836444-1838775)x1 copy number loss not provided [RCV000747276] Chr8:1836444..1838775 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1867207-1867867)x1 copy number loss not provided [RCV000747277] Chr8:1867207..1867867 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1905728-1937286)x3 copy number gain not provided [RCV000747278] Chr8:1905728..1937286 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3-23.2(chr8:1905728-2270852)x3 copy number gain not provided [RCV000747279] Chr8:1905728..2270852 [GRCh37]
Chr8:8p23.3-23.2		 benign
NM_014629.4(ARHGEF10):c.193+72T>G single nucleotide variant not provided [RCV001539574] Chr8:1858187 [GRCh38]
Chr8:1806353 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.961-7G>A single nucleotide variant ARHGEF10-related condition [RCV003976029]|not provided [RCV001713682]|not specified [RCV001700894] Chr8:1882628 [GRCh38]
Chr8:1830794 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.-47-86C>T single nucleotide variant not provided [RCV001648961] Chr8:1843267 [GRCh38]
Chr8:1791433 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1 copy number loss not provided [RCV000762736] Chr8:176814..7753583 [GRCh37]
Chr8:8p23.3-23.1		 likely pathogenic
NM_014629.4(ARHGEF10):c.1557+86G>A single nucleotide variant not provided [RCV001681392] Chr8:1896535 [GRCh38]
Chr8:1844701 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.193+53G>A single nucleotide variant not provided [RCV001648576] Chr8:1858168 [GRCh38]
Chr8:1806334 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.37+70C>T single nucleotide variant not provided [RCV001693170] Chr8:1843506 [GRCh38]
Chr8:1791672 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3828A>G (p.Ser1276=) single nucleotide variant not provided [RCV000947091] Chr8:1957056 [GRCh38]
Chr8:1905222 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001001862]|not provided [RCV000900507] Chr8:1860177 [GRCh38]
Chr8:1808343 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3915G>A (p.Ser1305=) single nucleotide variant not provided [RCV000905999] Chr8:1957143 [GRCh38]
Chr8:1905309 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1431C>T (p.Phe477=) single nucleotide variant not provided [RCV000885196] Chr8:1894563 [GRCh38]
Chr8:1842729 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3448A>G (p.Met1150Val) single nucleotide variant ARHGEF10-related condition [RCV003970482]|not provided [RCV000920881] Chr8:1952755 [GRCh38]
Chr8:1900921 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2501A>G (p.His834Arg) single nucleotide variant not provided [RCV000880833] Chr8:1925295 [GRCh38]
Chr8:1873461 [GRCh37]
Chr8:8p23.3		 benign|likely benign
NM_014629.4(ARHGEF10):c.3430G>T (p.Val1144Phe) single nucleotide variant not provided [RCV000880834] Chr8:1952737 [GRCh38]
Chr8:1900903 [GRCh37]
Chr8:8p23.3		 benign|likely benign
NM_014629.4(ARHGEF10):c.1081A>T (p.Arg361Ter) single nucleotide variant Myopathy [RCV000984330] Chr8:1885606 [GRCh38]
Chr8:1833772 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2755A>C (p.Thr919Pro) single nucleotide variant not provided [RCV000969220] Chr8:1928484 [GRCh38]
Chr8:1876650 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3973C>T (p.Pro1325Ser) single nucleotide variant not provided [RCV000967074] Chr8:1957201 [GRCh38]
Chr8:1905367 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3-22(chr8:194617-13947374) copy number gain not provided [RCV000767676] Chr8:194617..13947374 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:184617-6804328) copy number gain not provided [RCV000767678] Chr8:184617..6804328 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.1440+10C>T single nucleotide variant not provided [RCV000954690]|not specified [RCV001729757] Chr8:1894582 [GRCh38]
Chr8:1842748 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.194-3del deletion not provided [RCV000895685] Chr8:1859891 [GRCh38]
Chr8:1808057 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3398-7C>T single nucleotide variant not provided [RCV000958985] Chr8:1952698 [GRCh38]
Chr8:1900864 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3018G>A (p.Thr1006=) single nucleotide variant not provided [RCV000897958] Chr8:1929382 [GRCh38]
Chr8:1877548 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.38-8_38-4del deletion ARHGEF10-related condition [RCV003920507]|not provided [RCV000880264] Chr8:1857948..1857952 [GRCh38]
Chr8:1806114..1806118 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3705T>C (p.Gly1235=) single nucleotide variant not provided [RCV000887412] Chr8:1956933 [GRCh38]
Chr8:1905099 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3648C>T (p.Asp1216=) single nucleotide variant not provided [RCV000895279] Chr8:1956876 [GRCh38]
Chr8:1905042 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3665C>T (p.Ala1222Val) single nucleotide variant not provided [RCV000998981] Chr8:1956893 [GRCh38]
Chr8:1905059 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:1570389-2202358)x3 copy number gain not provided [RCV000847661] Chr8:1570389..2202358 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
GRCh37/hg19 8p23.3(chr8:1501991-2132155)x3 copy number gain not provided [RCV000848720] Chr8:1501991..2132155 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1 copy number loss not provided [RCV000847768] Chr8:158048..14214722 [GRCh37]
Chr8:8p23.3-22		 pathogenic
NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs) duplication Autosomal dominant slowed nerve conduction velocity [RCV000785129] Chr8:1957191..1957192 [GRCh38]
Chr8:1905357..1905358 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.604A>C (p.Asn202His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789724] Chr8:1866584 [GRCh38]
Chr8:1814750 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2097C>T (p.Ala699=) single nucleotide variant not provided [RCV000895686] Chr8:1909424 [GRCh38]
Chr8:1857590 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3-23.1(chr8:158048-6984438)x1 copy number loss not provided [RCV000847001] Chr8:158048..6984438 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1 copy number loss not provided [RCV000845663] Chr8:158048..9393052 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6828766)x1 copy number loss not provided [RCV000849211] Chr8:158048..6828766 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1854916-2281460)x3 copy number gain not provided [RCV000849022] Chr8:1854916..2281460 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:1854916-2281460)x3 copy number gain not provided [RCV000848627] Chr8:1854916..2281460 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:158048-4188901)x1 copy number loss not provided [RCV001006044] Chr8:158048..4188901 [GRCh37]
Chr8:8p23.3-23.2		 pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1848652-3051690)x3 copy number gain not provided [RCV001006049] Chr8:1848652..3051690 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
NM_014629.4(ARHGEF10):c.1845C>A (p.Tyr615Ter) single nucleotide variant not provided [RCV000998979] Chr8:1905594 [GRCh38]
Chr8:1853760 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2583G>C (p.Val861=) single nucleotide variant not provided [RCV000998980] Chr8:1925377 [GRCh38]
Chr8:1873543 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6219809)x1 copy number loss not provided [RCV000849116] Chr8:158048..6219809 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3(chr8:1734758-1886029)x3 copy number gain not provided [RCV000846275] Chr8:1734758..1886029 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.314C>T (p.Pro105Leu) single nucleotide variant Inborn genetic diseases [RCV003291439]|not provided [RCV003738416] Chr8:1860017 [GRCh38]
Chr8:1808183 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6940661)x1 copy number loss not provided [RCV000846153] Chr8:158048..6940661 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3 copy number gain not provided [RCV001006042] Chr8:158048..8102819 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1668896-2763888)x3 copy number gain not provided [RCV001006047] Chr8:1668896..2763888 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
NM_014629.4(ARHGEF10):c.541A>G (p.Thr181Ala) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001196131] Chr8:1864432 [GRCh38]
Chr8:1812598 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6969688)x1 copy number loss not provided [RCV000846342] Chr8:158048..6969688 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.1871A>C (p.Glu624Ala) single nucleotide variant Inborn genetic diseases [RCV003291820] Chr8:1905620 [GRCh38]
Chr8:1853786 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2697+103C>T single nucleotide variant not provided [RCV001609259] Chr8:1926566 [GRCh38]
Chr8:1874732 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1186G>A (p.Val396Ile) single nucleotide variant Inborn genetic diseases [RCV003292924] Chr8:1893572 [GRCh38]
Chr8:1841738 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1440+122A>G single nucleotide variant not provided [RCV001714641] Chr8:1894694 [GRCh38]
Chr8:1842860 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.481+89G>C single nucleotide variant not provided [RCV001685850] Chr8:1860273 [GRCh38]
Chr8:1808439 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.591C>T (p.Ala197=) single nucleotide variant not provided [RCV001714658] Chr8:1866571 [GRCh38]
Chr8:1814737 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1651-65C>T single nucleotide variant not provided [RCV001597810] Chr8:1903216 [GRCh38]
Chr8:1851382 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.623-134T>C single nucleotide variant not provided [RCV001717253] Chr8:1869060 [GRCh38]
Chr8:1817226 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1968-95G>A single nucleotide variant not provided [RCV001659197] Chr8:1909200 [GRCh38]
Chr8:1857366 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1968-94T>C single nucleotide variant not provided [RCV001612525] Chr8:1909201 [GRCh38]
Chr8:1857367 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1261-48G>C single nucleotide variant not provided [RCV001618161] Chr8:1894345 [GRCh38]
Chr8:1842511 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1647C>T (p.Leu549=) single nucleotide variant not provided [RCV001717506] Chr8:1898522 [GRCh38]
Chr8:1846688 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.679+122T>C single nucleotide variant not provided [RCV001615887] Chr8:1869372 [GRCh38]
Chr8:1817538 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.680-141G>C single nucleotide variant not provided [RCV001670459] Chr8:1876430 [GRCh38]
Chr8:1824596 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.38-82_38-81insTATC insertion not provided [RCV001609315] Chr8:1857875..1857876 [GRCh38]
Chr8:1806041..1806042 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.38-80ATCT[13] microsatellite not provided [RCV001621593] Chr8:1857879..1857880 [GRCh38]
Chr8:1806045..1806046 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3222+144A>T single nucleotide variant not provided [RCV001621760] Chr8:1934086 [GRCh38]
Chr8:1882252 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.193+51_193+52insGGTCCCCAGGTGGGTCCCCAGGTG microsatellite not provided [RCV001614646] Chr8:1858143..1858144 [GRCh38]
Chr8:1806309..1806310 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3994C>G (p.Pro1332Ala) single nucleotide variant Inborn genetic diseases [RCV003242181]|not provided [RCV003779923] Chr8:1957222 [GRCh38]
Chr8:1905388 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1952C>T (p.Ala651Val) single nucleotide variant Inborn genetic diseases [RCV003252712] Chr8:1905701 [GRCh38]
Chr8:1853867 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1260+4C>T single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001001937]|not provided [RCV000975173] Chr8:1893650 [GRCh38]
Chr8:1841816 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1991T>C (p.Met664Thr) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001000266]|not provided [RCV000975174] Chr8:1909318 [GRCh38]
Chr8:1857484 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.38-9T>A single nucleotide variant not provided [RCV000963357] Chr8:1857951 [GRCh38]
Chr8:1806117 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1631A>T (p.Gln544Leu) single nucleotide variant not provided [RCV000879746] Chr8:1898506 [GRCh38]
Chr8:1846672 [GRCh37]
Chr8:8p23.3		 likely benign|conflicting interpretations of pathogenicity
NM_014629.4(ARHGEF10):c.1557+18del deletion not provided [RCV000953262] Chr8:1896458 [GRCh38]
Chr8:1844624 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3123C>A (p.Gly1041=) single nucleotide variant not provided [RCV000897959] Chr8:1933843 [GRCh38]
Chr8:1882009 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.482-4G>C single nucleotide variant not provided [RCV000899668] Chr8:1864369 [GRCh38]
Chr8:1812535 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.939C>G (p.Leu313=) single nucleotide variant not provided [RCV000977842] Chr8:1880143 [GRCh38]
Chr8:1828309 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.645T>C (p.Asp215=) single nucleotide variant not provided [RCV000910494] Chr8:1869216 [GRCh38]
Chr8:1817382 [GRCh37]
Chr8:8p23.3		 likely benign
GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1 copy number loss not provided [RCV001006043] Chr8:158048..9025197 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.1822-4C>G single nucleotide variant not provided [RCV000956551] Chr8:1905567 [GRCh38]
Chr8:1853733 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3763G>A (p.Asp1255Asn) single nucleotide variant ARHGEF10-related condition [RCV003926045]|not provided [RCV000956552] Chr8:1956991 [GRCh38]
Chr8:1905157 [GRCh37]
Chr8:8p23.3		 benign|likely benign
NM_014629.4(ARHGEF10):c.973G>A (p.Val325Met) single nucleotide variant not provided [RCV000889219] Chr8:1882647 [GRCh38]
Chr8:1830813 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3519C>T (p.Thr1173=) single nucleotide variant not provided [RCV000889320] Chr8:1952826 [GRCh38]
Chr8:1900992 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1206T>C (p.Gly402=) single nucleotide variant not provided [RCV000956927] Chr8:1893592 [GRCh38]
Chr8:1841758 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2921+5G>C single nucleotide variant not provided [RCV000890512] Chr8:1928655 [GRCh38]
Chr8:1876821 [GRCh37]
Chr8:8p23.3		 benign|likely benign
NM_014629.4(ARHGEF10):c.570C>T (p.Asp190=) single nucleotide variant not provided [RCV002726202] Chr8:1866550 [GRCh38]
Chr8:1814716 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3738G>A (p.Ser1246=) single nucleotide variant not provided [RCV001621023] Chr8:1956966 [GRCh38]
Chr8:1905132 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1182+117C>T single nucleotide variant not provided [RCV001677372] Chr8:1885824 [GRCh38]
Chr8:1833990 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.38-80ATCT[11] microsatellite not provided [RCV001719249] Chr8:1857880..1857883 [GRCh38]
Chr8:1806046..1806049 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.680-184G>C single nucleotide variant not provided [RCV001677851] Chr8:1876387 [GRCh38]
Chr8:1824553 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3296T>C (p.Ile1099Thr) single nucleotide variant not provided [RCV002469790] Chr8:1945554 [GRCh38]
Chr8:1893720 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.37+36T>G single nucleotide variant not provided [RCV001718190] Chr8:1843472 [GRCh38]
Chr8:1791638 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.706A>G (p.Asn236Asp) single nucleotide variant not provided [RCV003106555] Chr8:1876597 [GRCh38]
Chr8:1824763 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:1756636-2324956)x3 copy number gain not provided [RCV001006048] Chr8:1756636..2324956 [GRCh37]
Chr8:8p23.3-23.2		 likely benign
NM_014629.4(ARHGEF10):c.151G>A (p.Glu51Lys) single nucleotide variant not provided [RCV001531699] Chr8:1858073 [GRCh38]
Chr8:1806239 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.844-36C>G single nucleotide variant not provided [RCV001717336] Chr8:1880012 [GRCh38]
Chr8:1828178 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2610+148T>C single nucleotide variant not provided [RCV001717463] Chr8:1925552 [GRCh38]
Chr8:1873718 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2144-16T>G single nucleotide variant not provided [RCV001717464] Chr8:1922948 [GRCh38]
Chr8:1871114 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1650+67C>T single nucleotide variant not provided [RCV001538510] Chr8:1898592 [GRCh38]
Chr8:1846758 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.546-103AC[12] microsatellite not provided [RCV001608612] Chr8:1866423..1866426 [GRCh38]
Chr8:1814589..1814592 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.193+178A>G single nucleotide variant not provided [RCV001608446] Chr8:1858293 [GRCh38]
Chr8:1806459 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3520+184A>G single nucleotide variant not provided [RCV001619550] Chr8:1953011 [GRCh38]
Chr8:1901177 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.193+91T>C single nucleotide variant not provided [RCV001687865] Chr8:1858206 [GRCh38]
Chr8:1806372 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.481+165C>T single nucleotide variant not provided [RCV001687867] Chr8:1860349 [GRCh38]
Chr8:1808515 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2388-44G>C single nucleotide variant not provided [RCV001539908] Chr8:1923730 [GRCh38]
Chr8:1871896 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.38-81_38-70del deletion not provided [RCV001676180] Chr8:1857876..1857887 [GRCh38]
Chr8:1806042..1806053 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3397+66C>A single nucleotide variant not provided [RCV001597878] Chr8:1945721 [GRCh38]
Chr8:1893887 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3521-88C>T single nucleotide variant not provided [RCV001721656] Chr8:1956661 [GRCh38]
Chr8:1904827 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.194-199A>G single nucleotide variant not provided [RCV001596386] Chr8:1859698 [GRCh38]
Chr8:1807864 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.38-89GATC[2] microsatellite not provided [RCV001718179] Chr8:1857871..1857874 [GRCh38]
Chr8:1806037..1806040 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.193+53_193+54insGTGGG insertion not provided [RCV001718235] Chr8:1858167..1858168 [GRCh38]
Chr8:1806333..1806334 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2144-138T>C single nucleotide variant not provided [RCV001614861] Chr8:1922826 [GRCh38]
Chr8:1870992 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.960+120T>C single nucleotide variant not provided [RCV001718180] Chr8:1880284 [GRCh38]
Chr8:1828450 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.680-148C>G single nucleotide variant not provided [RCV001718181] Chr8:1876423 [GRCh38]
Chr8:1824589 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2055T>C (p.Tyr685=) single nucleotide variant not provided [RCV001718192] Chr8:1909382 [GRCh38]
Chr8:1857548 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2144-174G>A single nucleotide variant not provided [RCV001620544] Chr8:1922790 [GRCh38]
Chr8:1870956 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3223-137C>T single nucleotide variant not provided [RCV001678501] Chr8:1945344 [GRCh38]
Chr8:1893510 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.193+100A>G single nucleotide variant not provided [RCV001617802] Chr8:1858215 [GRCh38]
Chr8:1806381 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.343G>T (p.Glu115Ter) single nucleotide variant Peripheral axonal neuropathy [RCV001007468] Chr8:1860046 [GRCh38]
Chr8:1808212 [GRCh37]
Chr8:8p23.3		 likely pathogenic
NM_014629.4(ARHGEF10):c.1968-168A>G single nucleotide variant not provided [RCV001670139] Chr8:1909127 [GRCh38]
Chr8:1857293 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001000176]|Inborn genetic diseases [RCV002549130]|not provided [RCV001869417] Chr8:1928638 [GRCh38]
Chr8:1876804 [GRCh37]
Chr8:8p23.3		 likely benign|uncertain significance
NM_014629.4(ARHGEF10):c.2950T>G (p.Ser984Ala) single nucleotide variant not provided [RCV001609580] Chr8:1929314 [GRCh38]
Chr8:1877480 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2580C>T (p.Pro860=) single nucleotide variant not provided [RCV001714645] Chr8:1925374 [GRCh38]
Chr8:1873540 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.37+60C>T single nucleotide variant not provided [RCV001707424] Chr8:1843496 [GRCh38]
Chr8:1791662 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.38-81G>T single nucleotide variant not provided [RCV001714657] Chr8:1857879 [GRCh38]
Chr8:1806045 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.193+52A>G single nucleotide variant not provided [RCV001650190] Chr8:1858167 [GRCh38]
Chr8:1806333 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3520+117G>C single nucleotide variant not provided [RCV001667437] Chr8:1952944 [GRCh38]
Chr8:1901110 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.37+83A>G single nucleotide variant not provided [RCV001615962] Chr8:1843519 [GRCh38]
Chr8:1791685 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.38-146T>C single nucleotide variant not provided [RCV001540048] Chr8:1857814 [GRCh38]
Chr8:1805980 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2736C>T (p.Ile912=) single nucleotide variant ARHGEF10-related condition [RCV003984072]|not provided [RCV001695710] Chr8:1928465 [GRCh38]
Chr8:1876631 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001000249]|not provided [RCV001700964] Chr8:1860104 [GRCh38]
Chr8:1808270 [GRCh37]
Chr8:8p23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014629.4(ARHGEF10):c.1812C>A (p.Tyr604Ter) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001002797] Chr8:1903442 [GRCh38]
Chr8:1851608 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2460C>G (p.Asn820Lys) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001196158]|not provided [RCV001863102] Chr8:1923846 [GRCh38]
Chr8:1872012 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1 copy number loss Cerebellar ataxia [RCV001251057] Chr8:176814..11472913 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3(chr8:1100251-2190480)x1 copy number loss not provided [RCV001258398] Chr8:1100251..2190480 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:158048-3476104)x1 copy number loss not provided [RCV001258403] Chr8:158048..3476104 [GRCh37]
Chr8:8p23.3-23.2		 pathogenic
NM_014629.4(ARHGEF10):c.194-208A>G single nucleotide variant not provided [RCV001536360] Chr8:1859689 [GRCh38]
Chr8:1807855 [GRCh37]
Chr8:8p23.3		 benign
GRCh37/hg19 8p23.3(chr8:1565070-2190480)x1 copy number loss not provided [RCV001258399] Chr8:1565070..2190480 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3(chr8:158048-2081207)x1 copy number loss not provided [RCV001260043] Chr8:158048..2081207 [GRCh37]
Chr8:8p23.3		 pathogenic|uncertain significance
GRCh37/hg19 8p23.3(chr8:1668896-1842353)x1 copy number loss not provided [RCV001260044] Chr8:1668896..1842353 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:411691-6999114)x1 copy number loss not provided [RCV001258401] Chr8:411691..6999114 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1565070-2254674)x3 copy number gain not provided [RCV001258402] Chr8:1565070..2254674 [GRCh37]
Chr8:8p23.3-23.2		 likely benign
NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001330526] Chr8:1894475 [GRCh38]
Chr8:1842641 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.76G>C (p.Glu26Gln) single nucleotide variant not provided [RCV001309112] Chr8:1857998 [GRCh38]
Chr8:1806164 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.4032A>G (p.Ile1344Met) single nucleotide variant not provided [RCV001310619] Chr8:1957260 [GRCh38]
Chr8:1905426 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.121G>T (p.Glu41Ter) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV001333768] Chr8:1858043 [GRCh38]
Chr8:1806209 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3171G>A (p.Ala1057=) single nucleotide variant not provided [RCV001310618] Chr8:1933891 [GRCh38]
Chr8:1882057 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3581C>T (p.Thr1194Met) single nucleotide variant not provided [RCV001354652] Chr8:1956809 [GRCh38]
Chr8:1904975 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2396G>A (p.Arg799Gln) single nucleotide variant not provided [RCV001358226] Chr8:1923782 [GRCh38]
Chr8:1871948 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3475G>A (p.Val1159Met) single nucleotide variant Inborn genetic diseases [RCV002567976]|not provided [RCV001507719] Chr8:1952782 [GRCh38]
Chr8:1900948 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.4000G>A (p.Val1334Ile) single nucleotide variant not provided [RCV001507720] Chr8:1957228 [GRCh38]
Chr8:1905394 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1821+154G>T single nucleotide variant not provided [RCV001528010] Chr8:1903605 [GRCh38]
Chr8:1851771 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1558-54C>A single nucleotide variant not provided [RCV001710778] Chr8:1898379 [GRCh38]
Chr8:1846545 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3397+141A>G single nucleotide variant not provided [RCV001681467] Chr8:1945796 [GRCh38]
Chr8:1893962 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.623-46G>C single nucleotide variant not provided [RCV001619321] Chr8:1869148 [GRCh38]
Chr8:1817314 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2143+65T>C single nucleotide variant not provided [RCV001654814] Chr8:1909535 [GRCh38]
Chr8:1857701 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.482-207C>G single nucleotide variant not provided [RCV001679769] Chr8:1864166 [GRCh38]
Chr8:1812332 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.623-74G>T single nucleotide variant not provided [RCV001693278] Chr8:1869120 [GRCh38]
Chr8:1817286 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3222+153G>T single nucleotide variant not provided [RCV001717339] Chr8:1934095 [GRCh38]
Chr8:1882261 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2488+158C>T single nucleotide variant not provided [RCV001650033] Chr8:1924032 [GRCh38]
Chr8:1872198 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2385C>T (p.Asp795=) single nucleotide variant not provided [RCV001700648] Chr8:1923593 [GRCh38]
Chr8:1871759 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1651-188del deletion not provided [RCV001671950] Chr8:1903093 [GRCh38]
Chr8:1851259 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.37+61G>A single nucleotide variant not provided [RCV001686030] Chr8:1843497 [GRCh38]
Chr8:1791663 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.38-81_38-74del deletion not provided [RCV001650005] Chr8:1857876..1857883 [GRCh38]
Chr8:1806042..1806049 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1558-37C>T single nucleotide variant not provided [RCV001612326] Chr8:1898396 [GRCh38]
Chr8:1846562 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1235T>C (p.Val412Ala) single nucleotide variant not provided [RCV001508232] Chr8:1893621 [GRCh38]
Chr8:1841787 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3056T>A (p.Val1019Asp) single nucleotide variant Inborn genetic diseases [RCV002564234]|not provided [RCV001508236] Chr8:1929420 [GRCh38]
Chr8:1877586 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3098A>G (p.Glu1033Gly) single nucleotide variant not provided [RCV001508237] Chr8:1933818 [GRCh38]
Chr8:1881984 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.848C>T (p.Ser283Phe) single nucleotide variant not provided [RCV001727431] Chr8:1880052 [GRCh38]
Chr8:1828218 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1423G>A (p.Asp475Asn) single nucleotide variant Inborn genetic diseases [RCV002544053]|not provided [RCV001763431] Chr8:1894555 [GRCh38]
Chr8:1842721 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1021G>A (p.Ala341Thr) single nucleotide variant not provided [RCV001763741] Chr8:1882695 [GRCh38]
Chr8:1830861 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.728G>A (p.Ser243Asn) single nucleotide variant not provided [RCV001767004] Chr8:1876619 [GRCh38]
Chr8:1824785 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.685A>G (p.Met229Val) single nucleotide variant not provided [RCV003238036] Chr8:1876576 [GRCh38]
Chr8:1824742 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1 copy number loss Obesity [RCV001801195] Chr8:10501..7214947 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.1676G>A (p.Gly559Asp) single nucleotide variant not provided [RCV001774524] Chr8:1903306 [GRCh38]
Chr8:1851472 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:162190-4698813)x1 copy number loss not provided [RCV001795542] Chr8:162190..4698813 [GRCh37]
Chr8:8p23.3-23.2		 pathogenic
NM_014629.4(ARHGEF10):c.1195T>A (p.Tyr399Asn) single nucleotide variant not provided [RCV001773408] Chr8:1893581 [GRCh38]
Chr8:1841747 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2445G>A (p.Lys815=) single nucleotide variant not provided [RCV001914893] Chr8:1923831 [GRCh38]
Chr8:1871997 [GRCh37]
Chr8:8p23.3		 uncertain significance
NC_000008.10:g.(?_1893627)_(1893841_?)del deletion not provided [RCV001970909] Chr8:1893627..1893841 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.968A>G (p.Lys323Arg) single nucleotide variant not provided [RCV001889519] Chr8:1882642 [GRCh38]
Chr8:1830808 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:158048-2707158) copy number loss not specified [RCV002053751] Chr8:158048..2707158 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
NM_014629.4(ARHGEF10):c.2488+6G>T single nucleotide variant not provided [RCV001864048] Chr8:1923880 [GRCh38]
Chr8:1872046 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.55G>T (p.Asp19Tyr) single nucleotide variant not provided [RCV002003074] Chr8:1857977 [GRCh38]
Chr8:1806143 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1537G>A (p.Ala513Thr) single nucleotide variant not provided [RCV001863262] Chr8:1896429 [GRCh38]
Chr8:1844595 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3967C>T (p.Arg1323Trp) single nucleotide variant not provided [RCV001929869] Chr8:1957195 [GRCh38]
Chr8:1905361 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1967G>A (p.Arg656His) single nucleotide variant not provided [RCV001926552] Chr8:1905716 [GRCh38]
Chr8:1853882 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2135C>T (p.Ala712Val) single nucleotide variant not provided [RCV001967471] Chr8:1909462 [GRCh38]
Chr8:1857628 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2878G>C (p.Ala960Pro) single nucleotide variant not provided [RCV002020353] Chr8:1928607 [GRCh38]
Chr8:1876773 [GRCh37]
Chr8:8p23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014629.4(ARHGEF10):c.1234G>A (p.Val412Ile) single nucleotide variant not provided [RCV002042784] Chr8:1893620 [GRCh38]
Chr8:1841786 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3 copy number gain not provided [RCV001827598] Chr8:158048..11936107 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3(chr8:1692004-1778697)x1 copy number loss not provided [RCV001836479] Chr8:1692004..1778697 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3914C>T (p.Ser1305Leu) single nucleotide variant not provided [RCV001946255] Chr8:1957142 [GRCh38]
Chr8:1905308 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2430C>G (p.Phe810Leu) single nucleotide variant not provided [RCV002041741] Chr8:1923816 [GRCh38]
Chr8:1871982 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1768C>T (p.Arg590Cys) single nucleotide variant not provided [RCV002042829] Chr8:1903398 [GRCh38]
Chr8:1851564 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1090C>T (p.Leu364Phe) single nucleotide variant not provided [RCV001893922] Chr8:1885615 [GRCh38]
Chr8:1833781 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1822-5T>A single nucleotide variant not provided [RCV002043476] Chr8:1905566 [GRCh38]
Chr8:1853732 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2489-3C>T single nucleotide variant not provided [RCV001913594] Chr8:1925280 [GRCh38]
Chr8:1873446 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.960+17G>A single nucleotide variant not provided [RCV002044199] Chr8:1880181 [GRCh38]
Chr8:1828347 [GRCh37]
Chr8:8p23.3		 likely benign|uncertain significance
NM_014629.4(ARHGEF10):c.991G>A (p.Gly331Ser) single nucleotide variant not provided [RCV001927793] Chr8:1882665 [GRCh38]
Chr8:1830831 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:1659409-6056585)x3 copy number gain not provided [RCV001829120] Chr8:1659409..6056585 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
NM_014629.4(ARHGEF10):c.3968G>A (p.Arg1323Gln) single nucleotide variant not provided [RCV002002689] Chr8:1957196 [GRCh38]
Chr8:1905362 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3664G>A (p.Ala1222Thr) single nucleotide variant not provided [RCV002004667] Chr8:1956892 [GRCh38]
Chr8:1905058 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.325G>A (p.Val109Met) single nucleotide variant not provided [RCV002021055] Chr8:1860028 [GRCh38]
Chr8:1808194 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3349C>A (p.His1117Asn) single nucleotide variant not provided [RCV001947805] Chr8:1945607 [GRCh38]
Chr8:1893773 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3518C>A (p.Thr1173Asn) single nucleotide variant not provided [RCV002041517] Chr8:1952825 [GRCh38]
Chr8:1900991 [GRCh37]
Chr8:8p23.3		 uncertain significance
NC_000008.10:g.(?_1824717)_(1833893_?)del deletion not provided [RCV001943061] Chr8:1824717..1833893 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3274G>A (p.Val1092Met) single nucleotide variant not provided [RCV001938337] Chr8:1945532 [GRCh38]
Chr8:1893698 [GRCh37]
Chr8:8p23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014629.4(ARHGEF10):c.2830C>T (p.Arg944Cys) single nucleotide variant not provided [RCV001885660] Chr8:1928559 [GRCh38]
Chr8:1876725 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1706C>G (p.Ala569Gly) single nucleotide variant not provided [RCV001888103] Chr8:1903336 [GRCh38]
Chr8:1851502 [GRCh37]
Chr8:8p23.3		 uncertain significance
NC_000008.10:g.(?_1791566)_(1833893_?)del deletion not provided [RCV001931244] Chr8:1791566..1833893 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1315C>G (p.Leu439Val) single nucleotide variant not provided [RCV001955810] Chr8:1894447 [GRCh38]
Chr8:1842613 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.310C>A (p.Gln104Lys) single nucleotide variant not provided [RCV001882165] Chr8:1860013 [GRCh38]
Chr8:1808179 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3917C>T (p.Ala1306Val) single nucleotide variant not provided [RCV002039054] Chr8:1957145 [GRCh38]
Chr8:1905311 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1606A>G (p.Met536Val) single nucleotide variant not provided [RCV001888609] Chr8:1898481 [GRCh38]
Chr8:1846647 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3164_3166del (p.Leu1055del) deletion not provided [RCV001887406] Chr8:1933882..1933884 [GRCh38]
Chr8:1882048..1882050 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2259+9T>C single nucleotide variant not provided [RCV002037015] Chr8:1923088 [GRCh38]
Chr8:1871254 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2794A>T (p.Ile932Phe) single nucleotide variant not provided [RCV001991608] Chr8:1928523 [GRCh38]
Chr8:1876689 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3136A>G (p.Arg1046Gly) single nucleotide variant not provided [RCV001917204] Chr8:1933856 [GRCh38]
Chr8:1882022 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.592G>A (p.Ala198Thr) single nucleotide variant not provided [RCV001996171] Chr8:1866572 [GRCh38]
Chr8:1814738 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1064_1065del (p.Leu355fs) microsatellite not provided [RCV001976059] Chr8:1882734..1882735 [GRCh38]
Chr8:1830900..1830901 [GRCh37]
Chr8:8p23.3		 uncertain significance
NC_000008.10:g.(?_1719221)_(1905429_?)del deletion Neuronal ceroid lipofuscinosis [RCV001958847]|not provided [RCV003120783] Chr8:1719221..1905429 [GRCh37]
Chr8:8p23.3		 pathogenic|uncertain significance|no classifications from unflagged records
NM_014629.4(ARHGEF10):c.1179G>C (p.Gln393His) single nucleotide variant not provided [RCV001996840] Chr8:1885704 [GRCh38]
Chr8:1833870 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.193+15GGGTCCCCAGGTGAGTCCCCAGGT[3] microsatellite not provided [RCV001953999] Chr8:1858129..1858130 [GRCh38]
Chr8:1806295..1806296 [GRCh37]
Chr8:8p23.3		 likely benign|uncertain significance
NM_014629.4(ARHGEF10):c.193+51_193+52insGATCCCCAGGTGGGTCCCCAGGTGAGTCACCAGGTGAGTCCCCAGGTGAGTCCCCAGGTGGTCCCCAGGTGAGTCCCCAGGTGGGTCCCCATGTGAGTCACCAGGTGAGTCCCCAGGTGAGTCCCCAGGTGGATCCCCAGGTGGGTCCCCAGGTGAGTCCCCAGGTGAGTCCCCAGGTGAGTCCCCAGGTGGGTCCCCAGGTG insertion not provided [RCV001920443] Chr8:1858131..1858132 [GRCh38]
Chr8:1806297..1806298 [GRCh37]
Chr8:8p23.3		 likely benign|uncertain significance
NM_014629.4(ARHGEF10):c.896A>G (p.Asp299Gly) single nucleotide variant not provided [RCV002031982] Chr8:1880100 [GRCh38]
Chr8:1828266 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3922G>C (p.Val1308Leu) single nucleotide variant not provided [RCV002029431] Chr8:1957150 [GRCh38]
Chr8:1905316 [GRCh37]
Chr8:8p23.3		 uncertain significance
NC_000008.10:g.(?_1791566)_(1817436_?)del deletion not provided [RCV001935025] Chr8:1791566..1817436 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3188T>G (p.Val1063Gly) single nucleotide variant not provided [RCV001903132] Chr8:1933908 [GRCh38]
Chr8:1882074 [GRCh37]
Chr8:8p23.3		 uncertain significance
NC_000008.10:g.(?_1842539)_(1857656_?)dup duplication not provided [RCV001993692] Chr8:1842539..1857656 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2230C>G (p.Leu744Val) single nucleotide variant not provided [RCV001995703] Chr8:1923050 [GRCh38]
Chr8:1871216 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1557+6C>T single nucleotide variant not provided [RCV001903849] Chr8:1896455 [GRCh38]
Chr8:1844621 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2564TCG[1] (p.Val856del) microsatellite not provided [RCV001900615] Chr8:1925358..1925360 [GRCh38]
Chr8:1873524..1873526 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2241C>G (p.Asn747Lys) single nucleotide variant not provided [RCV001900717] Chr8:1923061 [GRCh38]
Chr8:1871227 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3379G>C (p.Val1127Leu) single nucleotide variant not provided [RCV001978746] Chr8:1945637 [GRCh38]
Chr8:1893803 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2633del (p.Pro878fs) deletion not provided [RCV001919782] Chr8:1926397 [GRCh38]
Chr8:1874563 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2072C>T (p.Thr691Met) single nucleotide variant not provided [RCV002028718] Chr8:1909399 [GRCh38]
Chr8:1857565 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.110A>G (p.Asp37Gly) single nucleotide variant not provided [RCV001903966] Chr8:1858032 [GRCh38]
Chr8:1806198 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.349G>A (p.Val117Met) single nucleotide variant not provided [RCV001866550] Chr8:1860052 [GRCh38]
Chr8:1808218 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2108C>T (p.Pro703Leu) single nucleotide variant not provided [RCV001922757] Chr8:1909435 [GRCh38]
Chr8:1857601 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.863G>A (p.Arg288His) single nucleotide variant not provided [RCV002048984] Chr8:1880067 [GRCh38]
Chr8:1828233 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1408G>A (p.Val470Met) single nucleotide variant not provided [RCV002049020] Chr8:1894540 [GRCh38]
Chr8:1842706 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1816A>G (p.Asn606Asp) single nucleotide variant not provided [RCV001989341] Chr8:1903446 [GRCh38]
Chr8:1851612 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1264T>C (p.Tyr422His) single nucleotide variant not provided [RCV001953939] Chr8:1894396 [GRCh38]
Chr8:1842562 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.481+10CCCTCCTCTCCACGCCCCCGAAGTGGCCTGTGGTT[3] microsatellite not provided [RCV002015427] Chr8:1860193..1860194 [GRCh38]
Chr8:1808359..1808360 [GRCh37]
Chr8:8p23.3		 likely benign|uncertain significance
NM_014629.4(ARHGEF10):c.518C>T (p.Ser173Phe) single nucleotide variant not provided [RCV002026740] Chr8:1864409 [GRCh38]
Chr8:1812575 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.886A>C (p.Lys296Gln) single nucleotide variant not provided [RCV001899183] Chr8:1880090 [GRCh38]
Chr8:1828256 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1528A>G (p.Thr510Ala) single nucleotide variant not provided [RCV002033675] Chr8:1896420 [GRCh38]
Chr8:1844586 [GRCh37]
Chr8:8p23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014629.4(ARHGEF10):c.2881T>G (p.Ser961Ala) single nucleotide variant not provided [RCV002032958] Chr8:1928610 [GRCh38]
Chr8:1876776 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.925G>C (p.Glu309Gln) single nucleotide variant Inborn genetic diseases [RCV003166939]|not provided [RCV001905841] Chr8:1880129 [GRCh38]
Chr8:1828295 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3694C>G (p.Leu1232Val) single nucleotide variant Inborn genetic diseases [RCV002545551]|not provided [RCV002017740]|not specified [RCV003235658] Chr8:1956922 [GRCh38]
Chr8:1905088 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1422C>T (p.Gly474=) single nucleotide variant not provided [RCV001918404] Chr8:1894554 [GRCh38]
Chr8:1842720 [GRCh37]
Chr8:8p23.3		 uncertain significance
NC_000008.10:g.(?_1841715)_(1905429_?)del deletion not provided [RCV001922954] Chr8:1841715..1905429 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3352C>G (p.Leu1118Val) single nucleotide variant not provided [RCV001864970] Chr8:1945610 [GRCh38]
Chr8:1893776 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1960A>C (p.Ser654Arg) single nucleotide variant not provided [RCV002012369] Chr8:1905709 [GRCh38]
Chr8:1853875 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2374G>A (p.Gly792Arg) single nucleotide variant not provided [RCV001957157] Chr8:1923582 [GRCh38]
Chr8:1871748 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3620G>C (p.Ser1207Thr) single nucleotide variant not provided [RCV001882923] Chr8:1956848 [GRCh38]
Chr8:1905014 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3067G>C (p.Ala1023Pro) single nucleotide variant not provided [RCV001996795] Chr8:1929431 [GRCh38]
Chr8:1877597 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2342C>T (p.Ala781Val) single nucleotide variant not provided [RCV002033885] Chr8:1923550 [GRCh38]
Chr8:1871716 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.571A>C (p.Ser191Arg) single nucleotide variant not provided [RCV001998298] Chr8:1866551 [GRCh38]
Chr8:1814717 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.919G>A (p.Val307Met) single nucleotide variant not provided [RCV001925043] Chr8:1880123 [GRCh38]
Chr8:1828289 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1175A>G (p.Gln392Arg) single nucleotide variant Inborn genetic diseases [RCV002562153]|not provided [RCV001934276] Chr8:1885700 [GRCh38]
Chr8:1833866 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3947G>A (p.Arg1316His) single nucleotide variant not provided [RCV002029194] Chr8:1957175 [GRCh38]
Chr8:1905341 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3530T>C (p.Met1177Thr) single nucleotide variant not provided [RCV001994961] Chr8:1956758 [GRCh38]
Chr8:1904924 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2818G>A (p.Val940Ile) single nucleotide variant not provided [RCV002032130] Chr8:1928547 [GRCh38]
Chr8:1876713 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.962T>G (p.Met321Arg) single nucleotide variant not provided [RCV001883290] Chr8:1882636 [GRCh38]
Chr8:1830802 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3480C>T (p.Ala1160=) single nucleotide variant not provided [RCV002128167] Chr8:1952787 [GRCh38]
Chr8:1900953 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.824G>A (p.Arg275His) single nucleotide variant not provided [RCV002186349] Chr8:1876715 [GRCh38]
Chr8:1824881 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3414G>A (p.Ser1138=) single nucleotide variant not provided [RCV002147295] Chr8:1952721 [GRCh38]
Chr8:1900887 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1578C>T (p.Pro526=) single nucleotide variant not provided [RCV002109546] Chr8:1898453 [GRCh38]
Chr8:1846619 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1075+12_1075+13insGGGTCTTCTTGC insertion not provided [RCV002168794] Chr8:1882758..1882759 [GRCh38]
Chr8:1830924..1830925 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.432C>T (p.Pro144=) single nucleotide variant not provided [RCV002126445] Chr8:1860135 [GRCh38]
Chr8:1808301 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1542T>C (p.Phe514=) single nucleotide variant not provided [RCV002091862] Chr8:1896434 [GRCh38]
Chr8:1844600 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.843+19T>C single nucleotide variant not provided [RCV002146587] Chr8:1876753 [GRCh38]
Chr8:1824919 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3079+14C>T single nucleotide variant not provided [RCV002087597] Chr8:1929457 [GRCh38]
Chr8:1877623 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1076-4dup duplication not provided [RCV002124635] Chr8:1885588..1885589 [GRCh38]
Chr8:1833754..1833755 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2121C>T (p.Ala707=) single nucleotide variant not provided [RCV002208836] Chr8:1909448 [GRCh38]
Chr8:1857614 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2769T>A (p.Ile923=) single nucleotide variant not provided [RCV002146816] Chr8:1928498 [GRCh38]
Chr8:1876664 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2631C>T (p.Asn877=) single nucleotide variant not provided [RCV002125796] Chr8:1926397 [GRCh38]
Chr8:1874563 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1140A>G (p.Glu380=) single nucleotide variant not provided [RCV002074545] Chr8:1885665 [GRCh38]
Chr8:1833831 [GRCh37]
Chr8:8p23.3		 benign|likely benign
NM_014629.4(ARHGEF10):c.194-12C>T single nucleotide variant not provided [RCV002124750] Chr8:1859885 [GRCh38]
Chr8:1808051 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3279C>T (p.Ser1093=) single nucleotide variant not provided [RCV002129316] Chr8:1945537 [GRCh38]
Chr8:1893703 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.360T>C (p.His120=) single nucleotide variant not provided [RCV002186467] Chr8:1860063 [GRCh38]
Chr8:1808229 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2403G>A (p.Thr801=) single nucleotide variant not provided [RCV002188209] Chr8:1923789 [GRCh38]
Chr8:1871955 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2698-7G>A single nucleotide variant not provided [RCV002091370] Chr8:1928420 [GRCh38]
Chr8:1876586 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2097C>G (p.Ala699=) single nucleotide variant not provided [RCV002072649] Chr8:1909424 [GRCh38]
Chr8:1857590 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1650+12A>C single nucleotide variant not provided [RCV002126217] Chr8:1898537 [GRCh38]
Chr8:1846703 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1956C>T (p.Thr652=) single nucleotide variant not provided [RCV002189864] Chr8:1905705 [GRCh38]
Chr8:1853871 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3282C>T (p.Gly1094=) single nucleotide variant not provided [RCV002127653] Chr8:1945540 [GRCh38]
Chr8:1893706 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.961-13C>T single nucleotide variant not provided [RCV002186336] Chr8:1882622 [GRCh38]
Chr8:1830788 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1968-12T>G single nucleotide variant not provided [RCV002197242] Chr8:1909283 [GRCh38]
Chr8:1857449 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.566A>T (p.Glu189Val) single nucleotide variant ARHGEF10-related condition [RCV003968842]|not provided [RCV002080939] Chr8:1866546 [GRCh38]
Chr8:1814712 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.846T>C (p.Leu282=) single nucleotide variant not provided [RCV002093519] Chr8:1880050 [GRCh38]
Chr8:1828216 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3080-18G>C single nucleotide variant not provided [RCV002130757] Chr8:1933782 [GRCh38]
Chr8:1881948 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1651-20C>T single nucleotide variant not provided [RCV002171401] Chr8:1903261 [GRCh38]
Chr8:1851427 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.193+7T>C single nucleotide variant not provided [RCV002076738] Chr8:1858122 [GRCh38]
Chr8:1806288 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3177C>T (p.Ser1059=) single nucleotide variant not provided [RCV002191640] Chr8:1933897 [GRCh38]
Chr8:1882063 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3438C>T (p.His1146=) single nucleotide variant ARHGEF10-related condition [RCV003970923]|not provided [RCV002116114] Chr8:1952745 [GRCh38]
Chr8:1900911 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.990C>A (p.Asp330Glu) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV002225211] Chr8:1882664 [GRCh38]
Chr8:1830830 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.482-6C>G single nucleotide variant not provided [RCV002190533] Chr8:1864367 [GRCh38]
Chr8:1812533 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1860T>C (p.Asp620=) single nucleotide variant not provided [RCV002117384] Chr8:1905609 [GRCh38]
Chr8:1853775 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.789G>A (p.Ser263=) single nucleotide variant not provided [RCV002105466] Chr8:1876680 [GRCh38]
Chr8:1824846 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.433G>A (p.Ala145Thr) single nucleotide variant not provided [RCV002081112] Chr8:1860136 [GRCh38]
Chr8:1808302 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2136G>A (p.Ala712=) single nucleotide variant not provided [RCV002115779] Chr8:1909463 [GRCh38]
Chr8:1857629 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1275G>A (p.Pro425=) single nucleotide variant ARHGEF10-related condition [RCV003978657]|not provided [RCV002115138] Chr8:1894407 [GRCh38]
Chr8:1842573 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3993G>A (p.Ala1331=) single nucleotide variant not provided [RCV002196462] Chr8:1957221 [GRCh38]
Chr8:1905387 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2921+19G>A single nucleotide variant not provided [RCV002152771] Chr8:1928669 [GRCh38]
Chr8:1876835 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.1884C>T (p.Asn628=) single nucleotide variant ARHGEF10-related condition [RCV003923602]|not provided [RCV002112692] Chr8:1905633 [GRCh38]
Chr8:1853799 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3398-14G>A single nucleotide variant not provided [RCV002213276] Chr8:1952691 [GRCh38]
Chr8:1900857 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3075C>T (p.Ala1025=) single nucleotide variant not provided [RCV002194246] Chr8:1929439 [GRCh38]
Chr8:1877605 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.93C>T (p.Phe31=) single nucleotide variant not provided [RCV002128516] Chr8:1858015 [GRCh38]
Chr8:1806181 [GRCh37]
Chr8:8p23.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_014629.4(ARHGEF10):c.843+15C>T single nucleotide variant not provided [RCV002176894] Chr8:1876749 [GRCh38]
Chr8:1824915 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3960G>C (p.Arg1320Ser) single nucleotide variant not provided [RCV002179546] Chr8:1957188 [GRCh38]
Chr8:1905354 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3654C>A (p.Asp1218Glu) single nucleotide variant not provided [RCV002139547] Chr8:1956882 [GRCh38]
Chr8:1905048 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2144-19del deletion not provided [RCV002204309] Chr8:1922945 [GRCh38]
Chr8:1871111 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1183-18C>A single nucleotide variant not provided [RCV002141921] Chr8:1893551 [GRCh38]
Chr8:1841717 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1441-9G>A single nucleotide variant not provided [RCV002155474] Chr8:1896324 [GRCh38]
Chr8:1844490 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.961-20C>A single nucleotide variant not provided [RCV002163272] Chr8:1882615 [GRCh38]
Chr8:1830781 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3397+8G>T single nucleotide variant ARHGEF10-related condition [RCV003951203]|not provided [RCV002118352] Chr8:1945663 [GRCh38]
Chr8:1893829 [GRCh37]
Chr8:8p23.3		 benign|likely benign
NM_014629.4(ARHGEF10):c.1362G>A (p.Ser454=) single nucleotide variant not provided [RCV002122503] Chr8:1894494 [GRCh38]
Chr8:1842660 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.180C>T (p.Ala60=) single nucleotide variant not provided [RCV002101912] Chr8:1858102 [GRCh38]
Chr8:1806268 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.972C>T (p.Leu324=) single nucleotide variant not provided [RCV002135823] Chr8:1882646 [GRCh38]
Chr8:1830812 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.789G>C (p.Ser263=) single nucleotide variant not provided [RCV002179486] Chr8:1876680 [GRCh38]
Chr8:1824846 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3570C>T (p.Ile1190=) single nucleotide variant ARHGEF10-related condition [RCV003923744]|not provided [RCV002123784] Chr8:1956798 [GRCh38]
Chr8:1904964 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2697+19G>A single nucleotide variant not provided [RCV002201043] Chr8:1926482 [GRCh38]
Chr8:1874648 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.285C>T (p.Ile95=) single nucleotide variant not provided [RCV002140213] Chr8:1859988 [GRCh38]
Chr8:1808154 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3319C>A (p.Leu1107Ile) single nucleotide variant ARHGEF10-related condition [RCV003950919]|not provided [RCV002199625] Chr8:1945577 [GRCh38]
Chr8:1893743 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.528C>T (p.Ser176=) single nucleotide variant not provided [RCV002201629] Chr8:1864419 [GRCh38]
Chr8:1812585 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1557+18dup duplication not provided [RCV002137599] Chr8:1896457..1896458 [GRCh38]
Chr8:1844623..1844624 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2106G>A (p.Pro702=) single nucleotide variant not provided [RCV002155972] Chr8:1909433 [GRCh38]
Chr8:1857599 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1614C>T (p.Pro538=) single nucleotide variant not provided [RCV002138038] Chr8:1898489 [GRCh38]
Chr8:1846655 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3273C>T (p.Ala1091=) single nucleotide variant not provided [RCV002156757] Chr8:1945531 [GRCh38]
Chr8:1893697 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3397+16G>A single nucleotide variant not provided [RCV002136131] Chr8:1945671 [GRCh38]
Chr8:1893837 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2867C>T (p.Pro956Leu) single nucleotide variant not provided [RCV002200467] Chr8:1928596 [GRCh38]
Chr8:1876762 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3952G>A (p.Val1318Met) single nucleotide variant not provided [RCV002176202] Chr8:1957180 [GRCh38]
Chr8:1905346 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1590G>T (p.Thr530=) single nucleotide variant not provided [RCV002203955] Chr8:1898465 [GRCh38]
Chr8:1846631 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3636C>T (p.Pro1212=) single nucleotide variant not provided [RCV002178791] Chr8:1956864 [GRCh38]
Chr8:1905030 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.735G>C (p.Leu245Phe) single nucleotide variant not provided [RCV002178795] Chr8:1876626 [GRCh38]
Chr8:1824792 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2818G>T (p.Val940Phe) single nucleotide variant not provided [RCV002201557] Chr8:1928547 [GRCh38]
Chr8:1876713 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2073G>A (p.Thr691=) single nucleotide variant not provided [RCV002182716] Chr8:1909400 [GRCh38]
Chr8:1857566 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.194-10G>A single nucleotide variant not provided [RCV003110382] Chr8:1859887 [GRCh38]
Chr8:1808053 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.901A>C (p.Met301Leu) single nucleotide variant not provided [RCV003110814] Chr8:1880105 [GRCh38]
Chr8:1828271 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3999C>T (p.Thr1333=) single nucleotide variant not provided [RCV003110856] Chr8:1957227 [GRCh38]
Chr8:1905393 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.403G>A (p.Val135Met) single nucleotide variant not provided [RCV002275870] Chr8:1860106 [GRCh38]
Chr8:1808272 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2597A>G (p.Gln866Arg) single nucleotide variant not provided [RCV002293184] Chr8:1925391 [GRCh38]
Chr8:1873557 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2894C>T (p.Thr965Met) single nucleotide variant not provided [RCV002261839] Chr8:1928623 [GRCh38]
Chr8:1876789 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3571G>A (p.Val1191Ile) single nucleotide variant not provided [RCV002261842] Chr8:1956799 [GRCh38]
Chr8:1904965 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1606del (p.Met535_Met536insTer) deletion Autosomal dominant slowed nerve conduction velocity [RCV002290210] Chr8:1898481 [GRCh38]
Chr8:1846647 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2684A>G (p.His895Arg) single nucleotide variant not provided [RCV002261836] Chr8:1926450 [GRCh38]
Chr8:1874616 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1076-3_1076-2delinsTG indel Autosomal dominant slowed nerve conduction velocity [RCV002290157] Chr8:1885598..1885599 [GRCh38]
Chr8:1833764..1833765 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.167G>A (p.Gly56Glu) single nucleotide variant not provided [RCV002261835] Chr8:1858089 [GRCh38]
Chr8:1806255 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.235G>A (p.Glu79Lys) single nucleotide variant not provided [RCV002263470] Chr8:1859938 [GRCh38]
Chr8:1808104 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413) copy number gain Neurodevelopmental delay [RCV002280754] Chr8:158048..10348413 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1 copy number loss See cases [RCV002287568] Chr8:158048..11281408 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.2993C>G (p.Ser998Cys) single nucleotide variant not provided [RCV002261840] Chr8:1929357 [GRCh38]
Chr8:1877523 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3161C>T (p.Thr1054Met) single nucleotide variant not provided [RCV002261841] Chr8:1933881 [GRCh38]
Chr8:1882047 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2838G>T (p.Glu946Asp) single nucleotide variant not provided [RCV002261838] Chr8:1928567 [GRCh38]
Chr8:1876733 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3220G>A (p.Glu1074Lys) single nucleotide variant not provided [RCV002269656] Chr8:1933940 [GRCh38]
Chr8:1882106 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:1653884-2324956)x3 copy number gain See cases [RCV002293967] Chr8:1653884..2324956 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 copy number loss not provided [RCV002472557] Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22		 pathogenic
NM_014629.4(ARHGEF10):c.451A>G (p.Ile151Val) single nucleotide variant Inborn genetic diseases [RCV003260421] Chr8:1860154 [GRCh38]
Chr8:1808320 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:158049-5033424)x1 copy number loss not provided [RCV002472589] Chr8:158049..5033424 [GRCh37]
Chr8:8p23.3-23.2		 pathogenic
GRCh37/hg19 8p23.3-23.2(chr8:158049-4608757)x1 copy number loss not provided [RCV002473742] Chr8:158049..4608757 [GRCh37]
Chr8:8p23.3-23.2		 pathogenic
GRCh37/hg19 8p23.3(chr8:1446994-1881289)x3 copy number gain not provided [RCV002474764] Chr8:1446994..1881289 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1 copy number loss not provided [RCV002474566] Chr8:158049..10965627 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.365C>T (p.Pro122Leu) single nucleotide variant not provided [RCV002299829] Chr8:1860068 [GRCh38]
Chr8:1808234 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3364A>G (p.Asn1122Asp) single nucleotide variant not provided [RCV002298212] Chr8:1945622 [GRCh38]
Chr8:1893788 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1294A>C (p.Lys432Gln) single nucleotide variant not provided [RCV002295692] Chr8:1894426 [GRCh38]
Chr8:1842592 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2566G>A (p.Val856Ile) single nucleotide variant not provided [RCV003095585] Chr8:1925360 [GRCh38]
Chr8:1873526 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2611-9C>A single nucleotide variant not provided [RCV002686309] Chr8:1926368 [GRCh38]
Chr8:1874534 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.200A>G (p.Glu67Gly) single nucleotide variant not provided [RCV002617291] Chr8:1859903 [GRCh38]
Chr8:1808069 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1407C>T (p.Ser469=) single nucleotide variant not provided [RCV002971643] Chr8:1894539 [GRCh38]
Chr8:1842705 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2991G>C (p.Lys997Asn) single nucleotide variant not provided [RCV002839380] Chr8:1929355 [GRCh38]
Chr8:1877521 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.575C>T (p.Ala192Val) single nucleotide variant not provided [RCV002685448] Chr8:1866555 [GRCh38]
Chr8:1814721 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1305T>G (p.Ser435Arg) single nucleotide variant Inborn genetic diseases [RCV002817115] Chr8:1894437 [GRCh38]
Chr8:1842603 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2095G>A (p.Ala699Thr) single nucleotide variant not provided [RCV002994121] Chr8:1909422 [GRCh38]
Chr8:1857588 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1919G>A (p.Arg640Gln) single nucleotide variant not provided [RCV002726341] Chr8:1905668 [GRCh38]
Chr8:1853834 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.512C>T (p.Pro171Leu) single nucleotide variant Inborn genetic diseases [RCV002837233] Chr8:1864403 [GRCh38]
Chr8:1812569 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2672T>A (p.Phe891Tyr) single nucleotide variant Inborn genetic diseases [RCV002883697] Chr8:1926438 [GRCh38]
Chr8:1874604 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:1653793-3000412)x3 copy number gain not provided [RCV002475839] Chr8:1653793..3000412 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
NM_014629.4(ARHGEF10):c.3067G>A (p.Ala1023Thr) single nucleotide variant not provided [RCV002948057] Chr8:1929431 [GRCh38]
Chr8:1877597 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.257C>T (p.Pro86Leu) single nucleotide variant Inborn genetic diseases [RCV002970132] Chr8:1859960 [GRCh38]
Chr8:1808126 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1721A>G (p.Glu574Gly) single nucleotide variant not provided [RCV003016577] Chr8:1903351 [GRCh38]
Chr8:1851517 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3406C>T (p.Arg1136Trp) single nucleotide variant not provided [RCV002993770] Chr8:1952713 [GRCh38]
Chr8:1900879 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1183-5A>G single nucleotide variant not provided [RCV002993831] Chr8:1893564 [GRCh38]
Chr8:1841730 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3671C>T (p.Pro1224Leu) single nucleotide variant Inborn genetic diseases [RCV002683220]|not provided [RCV003777630] Chr8:1956899 [GRCh38]
Chr8:1905065 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.370G>A (p.Gly124Arg) single nucleotide variant Inborn genetic diseases [RCV002907202] Chr8:1860073 [GRCh38]
Chr8:1808239 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2952C>T (p.Ser984=) single nucleotide variant not provided [RCV002996269] Chr8:1929316 [GRCh38]
Chr8:1877482 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1069G>A (p.Ala357Thr) single nucleotide variant Inborn genetic diseases [RCV002901051] Chr8:1882743 [GRCh38]
Chr8:1830909 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2043C>T (p.Asp681=) single nucleotide variant not provided [RCV003097611] Chr8:1909370 [GRCh38]
Chr8:1857536 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.535C>G (p.Pro179Ala) single nucleotide variant not provided [RCV002618638] Chr8:1864426 [GRCh38]
Chr8:1812592 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.918C>T (p.Gly306=) single nucleotide variant not provided [RCV002947650] Chr8:1880122 [GRCh38]
Chr8:1828288 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.877T>C (p.Tyr293His) single nucleotide variant not provided [RCV003014601] Chr8:1880081 [GRCh38]
Chr8:1828247 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.961-9C>T single nucleotide variant not provided [RCV003013242] Chr8:1882626 [GRCh38]
Chr8:1830792 [GRCh37]
Chr8:8p23.3		 likely benign
GRCh37/hg19 8p23.3-23.2(chr8:1876160-2205398)x3 copy number gain not provided [RCV002475529] Chr8:1876160..2205398 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
NM_014629.4(ARHGEF10):c.3235G>T (p.Ala1079Ser) single nucleotide variant not provided [RCV002947674] Chr8:1945493 [GRCh38]
Chr8:1893659 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.889A>G (p.Met297Val) single nucleotide variant not provided [RCV002974931] Chr8:1880093 [GRCh38]
Chr8:1828259 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1623G>C (p.Arg541Ser) single nucleotide variant Inborn genetic diseases [RCV002981278] Chr8:1898498 [GRCh38]
Chr8:1846664 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.717A>G (p.Glu239=) single nucleotide variant not provided [RCV002870775] Chr8:1876608 [GRCh38]
Chr8:1824774 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.844C>G (p.Leu282Val) single nucleotide variant not provided [RCV002662413] Chr8:1880048 [GRCh38]
Chr8:1828214 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1287G>C (p.Met429Ile) single nucleotide variant not provided [RCV003003290] Chr8:1894419 [GRCh38]
Chr8:1842585 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.172A>C (p.Ser58Arg) single nucleotide variant not provided [RCV002825010] Chr8:1858094 [GRCh38]
Chr8:1806260 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1557+15T>C single nucleotide variant not provided [RCV002623121] Chr8:1896464 [GRCh38]
Chr8:1844630 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1322C>T (p.Thr441Met) single nucleotide variant Inborn genetic diseases [RCV002981226] Chr8:1894454 [GRCh38]
Chr8:1842620 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1651-3T>C single nucleotide variant not provided [RCV002590443] Chr8:1903278 [GRCh38]
Chr8:1851444 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.304G>C (p.Glu102Gln) single nucleotide variant Inborn genetic diseases [RCV002822853] Chr8:1860007 [GRCh38]
Chr8:1808173 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.445C>T (p.Pro149Ser) single nucleotide variant Inborn genetic diseases [RCV002762321]|not provided [RCV003777716] Chr8:1860148 [GRCh38]
Chr8:1808314 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.456C>G (p.Ile152Met) single nucleotide variant Inborn genetic diseases [RCV002798363] Chr8:1860159 [GRCh38]
Chr8:1808325 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.293C>T (p.Thr98Met) single nucleotide variant Inborn genetic diseases [RCV002952230] Chr8:1859996 [GRCh38]
Chr8:1808162 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1075+5G>T single nucleotide variant not provided [RCV002780919] Chr8:1882754 [GRCh38]
Chr8:1830920 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.246G>C (p.Lys82Asn) single nucleotide variant Inborn genetic diseases [RCV002823443] Chr8:1859949 [GRCh38]
Chr8:1808115 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2143+8A>G single nucleotide variant not provided [RCV002820363] Chr8:1909478 [GRCh38]
Chr8:1857644 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3637G>A (p.Glu1213Lys) single nucleotide variant not provided [RCV002913897] Chr8:1956865 [GRCh38]
Chr8:1905031 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1241C>T (p.Ala414Val) single nucleotide variant Inborn genetic diseases [RCV002870640] Chr8:1893627 [GRCh38]
Chr8:1841793 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.309C>G (p.Asp103Glu) single nucleotide variant Inborn genetic diseases [RCV002822854] Chr8:1860012 [GRCh38]
Chr8:1808178 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3209C>T (p.Thr1070Ile) single nucleotide variant not provided [RCV002949361] Chr8:1933929 [GRCh38]
Chr8:1882095 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1927A>T (p.Met643Leu) single nucleotide variant not provided [RCV003054608] Chr8:1905676 [GRCh38]
Chr8:1853842 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3068C>T (p.Ala1023Val) single nucleotide variant not provided [RCV002591758] Chr8:1929432 [GRCh38]
Chr8:1877598 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1136C>T (p.Pro379Leu) single nucleotide variant not provided [RCV002636489] Chr8:1885661 [GRCh38]
Chr8:1833827 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3034G>A (p.Ala1012Thr) single nucleotide variant not provided [RCV002637675] Chr8:1929398 [GRCh38]
Chr8:1877564 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.631G>A (p.Glu211Lys) single nucleotide variant Inborn genetic diseases [RCV002782569] Chr8:1869202 [GRCh38]
Chr8:1817368 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1329C>A (p.Phe443Leu) single nucleotide variant not provided [RCV002949509] Chr8:1894461 [GRCh38]
Chr8:1842627 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2922-1G>C single nucleotide variant not provided [RCV002639030] Chr8:1929285 [GRCh38]
Chr8:1877451 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2085C>A (p.Ser695Arg) single nucleotide variant not provided [RCV002976386] Chr8:1909412 [GRCh38]
Chr8:1857578 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3090G>C (p.Trp1030Cys) single nucleotide variant not provided [RCV002639640] Chr8:1933810 [GRCh38]
Chr8:1881976 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.126G>A (p.Ala42=) single nucleotide variant not provided [RCV002569608] Chr8:1858048 [GRCh38]
Chr8:1806214 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2134G>A (p.Ala712Thr) single nucleotide variant Inborn genetic diseases [RCV002713547] Chr8:1909461 [GRCh38]
Chr8:1857627 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1183G>C (p.Val395Leu) single nucleotide variant not provided [RCV002710324] Chr8:1893569 [GRCh38]
Chr8:1841735 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.212G>C (p.Gly71Ala) single nucleotide variant not provided [RCV002745708] Chr8:1859915 [GRCh38]
Chr8:1808081 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2488+3A>G single nucleotide variant not provided [RCV003085240] Chr8:1923877 [GRCh38]
Chr8:1872043 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.223A>T (p.Thr75Ser) single nucleotide variant not provided [RCV003040937] Chr8:1859926 [GRCh38]
Chr8:1808092 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.193+17G>C single nucleotide variant not provided [RCV002575229] Chr8:1858132 [GRCh38]
Chr8:1806298 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.193+48_193+71del microsatellite not provided [RCV002800880] Chr8:1858130..1858153 [GRCh38]
Chr8:1806296..1806319 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2259+16A>G single nucleotide variant not provided [RCV002790099] Chr8:1923095 [GRCh38]
Chr8:1871261 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1053G>T (p.Arg351Ser) single nucleotide variant not provided [RCV003059734] Chr8:1882727 [GRCh38]
Chr8:1830893 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1596C>T (p.Tyr532=) single nucleotide variant not provided [RCV002642743] Chr8:1898471 [GRCh38]
Chr8:1846637 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1182+1G>T single nucleotide variant not provided [RCV002890553] Chr8:1885708 [GRCh38]
Chr8:1833874 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2196G>T (p.Leu732Phe) single nucleotide variant not provided [RCV002642611] Chr8:1923016 [GRCh38]
Chr8:1871182 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3264C>T (p.Ser1088=) single nucleotide variant not provided [RCV002872288] Chr8:1945522 [GRCh38]
Chr8:1893688 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3223-11C>T single nucleotide variant not provided [RCV002642301] Chr8:1945470 [GRCh38]
Chr8:1893636 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1688G>A (p.Arg563Lys) single nucleotide variant Inborn genetic diseases [RCV002742161] Chr8:1903318 [GRCh38]
Chr8:1851484 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.426G>T (p.Leu142=) single nucleotide variant not provided [RCV002574208] Chr8:1860129 [GRCh38]
Chr8:1808295 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.982G>A (p.Ala328Thr) single nucleotide variant Inborn genetic diseases [RCV002955143] Chr8:1882656 [GRCh38]
Chr8:1830822 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1882A>G (p.Asn628Asp) single nucleotide variant not provided [RCV003039674] Chr8:1905631 [GRCh38]
Chr8:1853797 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1441-10T>G single nucleotide variant not provided [RCV002765871] Chr8:1896323 [GRCh38]
Chr8:1844489 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3323G>A (p.Arg1108His) single nucleotide variant Inborn genetic diseases [RCV003004326] Chr8:1945581 [GRCh38]
Chr8:1893747 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.125C>T (p.Ala42Val) single nucleotide variant Inborn genetic diseases [RCV003171084]|not provided [RCV003083389] Chr8:1858047 [GRCh38]
Chr8:1806213 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3027C>G (p.Ser1009Arg) single nucleotide variant not provided [RCV002928997] Chr8:1929391 [GRCh38]
Chr8:1877557 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1916G>A (p.Arg639His) single nucleotide variant Inborn genetic diseases [RCV002712693] Chr8:1905665 [GRCh38]
Chr8:1853831 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1557+13T>G single nucleotide variant not provided [RCV002851040] Chr8:1896462 [GRCh38]
Chr8:1844628 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1154C>T (p.Pro385Leu) single nucleotide variant Inborn genetic diseases [RCV002641314] Chr8:1885679 [GRCh38]
Chr8:1833845 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3202del (p.Val1068fs) deletion not provided [RCV002667374] Chr8:1933922 [GRCh38]
Chr8:1882088 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.460G>A (p.Ala154Thr) single nucleotide variant not provided [RCV002766582] Chr8:1860163 [GRCh38]
Chr8:1808329 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1557+7G>A single nucleotide variant not provided [RCV002666842] Chr8:1896456 [GRCh38]
Chr8:1844622 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1867A>G (p.Ile623Val) single nucleotide variant ARHGEF10-related condition [RCV003961225]|not provided [RCV002919191] Chr8:1905616 [GRCh38]
Chr8:1853782 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2859C>T (p.Pro953=) single nucleotide variant not provided [RCV002596076] Chr8:1928588 [GRCh38]
Chr8:1876754 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.529G>A (p.Glu177Lys) single nucleotide variant not provided [RCV002805580] Chr8:1864420 [GRCh38]
Chr8:1812586 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1558-18C>T single nucleotide variant not provided [RCV002625654] Chr8:1898415 [GRCh38]
Chr8:1846581 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.788C>T (p.Ser263Leu) single nucleotide variant Inborn genetic diseases [RCV002875184]|not provided [RCV003427621] Chr8:1876679 [GRCh38]
Chr8:1824845 [GRCh37]
Chr8:8p23.3		 likely benign|uncertain significance
NM_014629.4(ARHGEF10):c.545+12C>T single nucleotide variant not provided [RCV002800746] Chr8:1864448 [GRCh38]
Chr8:1812614 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1001A>C (p.Asp334Ala) single nucleotide variant Inborn genetic diseases [RCV002804181] Chr8:1882675 [GRCh38]
Chr8:1830841 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3715G>A (p.Ala1239Thr) single nucleotide variant Inborn genetic diseases [RCV002826890]|not provided [RCV003777805] Chr8:1956943 [GRCh38]
Chr8:1905109 [GRCh37]
Chr8:8p23.3		 likely benign|uncertain significance
NM_014629.4(ARHGEF10):c.1558-6C>G single nucleotide variant not provided [RCV002663483] Chr8:1898427 [GRCh38]
Chr8:1846593 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2207A>G (p.Asn736Ser) single nucleotide variant Inborn genetic diseases [RCV002874753] Chr8:1923027 [GRCh38]
Chr8:1871193 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.421C>G (p.Leu141Val) single nucleotide variant not provided [RCV002700921] Chr8:1860124 [GRCh38]
Chr8:1808290 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.960+14C>A single nucleotide variant not provided [RCV002626107] Chr8:1880178 [GRCh38]
Chr8:1828344 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.376T>G (p.Leu126Val) single nucleotide variant not provided [RCV003040260] Chr8:1860079 [GRCh38]
Chr8:1808245 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1517A>G (p.Lys506Arg) single nucleotide variant not provided [RCV003049027] Chr8:1896409 [GRCh38]
Chr8:1844575 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3066C>T (p.Tyr1022=) single nucleotide variant not provided [RCV002580065] Chr8:1929430 [GRCh38]
Chr8:1877596 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2005T>G (p.Tyr669Asp) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV003886602]|Inborn genetic diseases [RCV002651947] Chr8:1909332 [GRCh38]
Chr8:1857498 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1598G>T (p.Ser533Ile) single nucleotide variant Inborn genetic diseases [RCV002934371] Chr8:1898473 [GRCh38]
Chr8:1846639 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2260-20C>T single nucleotide variant not provided [RCV002597681] Chr8:1923448 [GRCh38]
Chr8:1871614 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2400G>A (p.Pro800=) single nucleotide variant not provided [RCV002581052] Chr8:1923786 [GRCh38]
Chr8:1871952 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2860G>A (p.Glu954Lys) single nucleotide variant Inborn genetic diseases [RCV003010637]|not provided [RCV003720720] Chr8:1928589 [GRCh38]
Chr8:1876755 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3900A>T (p.Lys1300Asn) single nucleotide variant not provided [RCV003031027] Chr8:1957128 [GRCh38]
Chr8:1905294 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.710G>C (p.Gly237Ala) single nucleotide variant Inborn genetic diseases [RCV002940243] Chr8:1876601 [GRCh38]
Chr8:1824767 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1014G>A (p.Arg338=) single nucleotide variant not provided [RCV002967088] Chr8:1882688 [GRCh38]
Chr8:1830854 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.960+16C>T single nucleotide variant not provided [RCV002581369] Chr8:1880180 [GRCh38]
Chr8:1828346 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3042G>C (p.Leu1014=) single nucleotide variant not provided [RCV002578026] Chr8:1929406 [GRCh38]
Chr8:1877572 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3806C>G (p.Ser1269Cys) single nucleotide variant Inborn genetic diseases [RCV002941125] Chr8:1957034 [GRCh38]
Chr8:1905200 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2846del (p.Ala949fs) deletion not provided [RCV002597472] Chr8:1928575 [GRCh38]
Chr8:1876741 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.450C>T (p.Val150=) single nucleotide variant not provided [RCV002630715] Chr8:1860153 [GRCh38]
Chr8:1808319 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.415C>G (p.Leu139Val) single nucleotide variant not provided [RCV002672259] Chr8:1860118 [GRCh38]
Chr8:1808284 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1829G>A (p.Ser610Asn) single nucleotide variant not provided [RCV002578200] Chr8:1905578 [GRCh38]
Chr8:1853744 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.680-13T>A single nucleotide variant not provided [RCV002716496] Chr8:1876558 [GRCh38]
Chr8:1824724 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2116C>T (p.Leu706=) single nucleotide variant not provided [RCV002806129] Chr8:1909443 [GRCh38]
Chr8:1857609 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.303GGA[1] (p.Glu102del) microsatellite not provided [RCV003088733] Chr8:1860005..1860007 [GRCh38]
Chr8:1808171..1808173 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2649T>C (p.Asn883=) single nucleotide variant not provided [RCV002937890] Chr8:1926415 [GRCh38]
Chr8:1874581 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.2402C>T (p.Thr801Met) single nucleotide variant not provided [RCV002597402] Chr8:1923788 [GRCh38]
Chr8:1871954 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1645C>T (p.Leu549Phe) single nucleotide variant not provided [RCV002647052] Chr8:1898520 [GRCh38]
Chr8:1846686 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3644A>G (p.Gln1215Arg) single nucleotide variant not provided [RCV002934079] Chr8:1956872 [GRCh38]
Chr8:1905038 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1821+3_1821+132delinsATCTT indel not provided [RCV003045633] Chr8:1903454..1903583 [GRCh38]
Chr8:1851620..1851749 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.834C>T (p.His278=) single nucleotide variant not provided [RCV002988632] Chr8:1876725 [GRCh38]
Chr8:1824891 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2999T>C (p.Val1000Ala) single nucleotide variant Inborn genetic diseases [RCV002878671] Chr8:1929363 [GRCh38]
Chr8:1877529 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2872G>A (p.Val958Met) single nucleotide variant Inborn genetic diseases [RCV002576785]|not provided [RCV002576784] Chr8:1928601 [GRCh38]
Chr8:1876767 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.911C>A (p.Thr304Lys) single nucleotide variant not provided [RCV002627756] Chr8:1880115 [GRCh38]
Chr8:1828281 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3909C>G (p.Ala1303=) single nucleotide variant not provided [RCV002578791] Chr8:1957137 [GRCh38]
Chr8:1905303 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3223-10G>A single nucleotide variant not provided [RCV002895858] Chr8:1945471 [GRCh38]
Chr8:1893637 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2633C>G (p.Pro878Arg) single nucleotide variant not provided [RCV002579877] Chr8:1926399 [GRCh38]
Chr8:1874565 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.447G>A (p.Pro149=) single nucleotide variant not provided [RCV002628328] Chr8:1860150 [GRCh38]
Chr8:1808316 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3080-10_3080-9del deletion not provided [RCV003028062] Chr8:1933788..1933789 [GRCh38]
Chr8:1881954..1881955 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3737C>T (p.Ser1246Leu) single nucleotide variant Inborn genetic diseases [RCV002675266]|not provided [RCV003434675] Chr8:1956965 [GRCh38]
Chr8:1905131 [GRCh37]
Chr8:8p23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014629.4(ARHGEF10):c.1387C>T (p.Arg463Cys) single nucleotide variant not provided [RCV002597600] Chr8:1894519 [GRCh38]
Chr8:1842685 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2781C>T (p.Asn927=) single nucleotide variant not provided [RCV003091392] Chr8:1928510 [GRCh38]
Chr8:1876676 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1636A>G (p.Ile546Val) single nucleotide variant not provided [RCV003029121] Chr8:1898511 [GRCh38]
Chr8:1846677 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3016A>T (p.Thr1006Ser) single nucleotide variant not provided [RCV002675613] Chr8:1929380 [GRCh38]
Chr8:1877546 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3386A>G (p.Asn1129Ser) single nucleotide variant Inborn genetic diseases [RCV002989522] Chr8:1945644 [GRCh38]
Chr8:1893810 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.648C>T (p.Asp216=) single nucleotide variant not provided [RCV002649820] Chr8:1869219 [GRCh38]
Chr8:1817385 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3370G>A (p.Ala1124Thr) single nucleotide variant not provided [RCV002628645] Chr8:1945628 [GRCh38]
Chr8:1893794 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3521-8C>G single nucleotide variant not provided [RCV003008499] Chr8:1956741 [GRCh38]
Chr8:1904907 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3033C>T (p.Tyr1011=) single nucleotide variant not provided [RCV002582677] Chr8:1929397 [GRCh38]
Chr8:1877563 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.465G>A (p.Thr155=) single nucleotide variant not provided [RCV002583101] Chr8:1860168 [GRCh38]
Chr8:1808334 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2427G>A (p.Thr809=) single nucleotide variant not provided [RCV002676837] Chr8:1923813 [GRCh38]
Chr8:1871979 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3075C>G (p.Ala1025=) single nucleotide variant not provided [RCV003069016] Chr8:1929439 [GRCh38]
Chr8:1877605 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1995C>T (p.Ser665=) single nucleotide variant not provided [RCV003069997] Chr8:1909322 [GRCh38]
Chr8:1857488 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1773T>C (p.Cys591=) single nucleotide variant not provided [RCV003067183] Chr8:1903403 [GRCh38]
Chr8:1851569 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1076-4del deletion ARHGEF10-related condition [RCV003961067]|not provided [RCV002583266] Chr8:1885589 [GRCh38]
Chr8:1833755 [GRCh37]
Chr8:8p23.3		 benign|likely benign
NM_014629.4(ARHGEF10):c.482-3C>T single nucleotide variant not provided [RCV002585743] Chr8:1864370 [GRCh38]
Chr8:1812536 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.25C>A (p.Pro9Thr) single nucleotide variant not provided [RCV002582433] Chr8:1843424 [GRCh38]
Chr8:1791590 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.961-4G>A single nucleotide variant not provided [RCV002608562] Chr8:1882631 [GRCh38]
Chr8:1830797 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2259+15A>G single nucleotide variant not provided [RCV002635706] Chr8:1923094 [GRCh38]
Chr8:1871260 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1296G>A (p.Lys432=) single nucleotide variant not provided [RCV002586479] Chr8:1894428 [GRCh38]
Chr8:1842594 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3407G>A (p.Arg1136Gln) single nucleotide variant not provided [RCV002942252] Chr8:1952714 [GRCh38]
Chr8:1900880 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2780A>G (p.Asn927Ser) single nucleotide variant not provided [RCV003071449] Chr8:1928509 [GRCh38]
Chr8:1876675 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3598G>C (p.Asp1200His) single nucleotide variant not provided [RCV002607842] Chr8:1956826 [GRCh38]
Chr8:1904992 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.324C>T (p.Pro108=) single nucleotide variant not provided [RCV002607846] Chr8:1860027 [GRCh38]
Chr8:1808193 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1215C>A (p.Val405=) single nucleotide variant not provided [RCV002653522] Chr8:1893601 [GRCh38]
Chr8:1841767 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.258G>A (p.Pro86=) single nucleotide variant not provided [RCV002611895] Chr8:1859961 [GRCh38]
Chr8:1808127 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3801C>T (p.His1267=) single nucleotide variant not provided [RCV003068826] Chr8:1957029 [GRCh38]
Chr8:1905195 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1846C>G (p.Leu616Val) single nucleotide variant Inborn genetic diseases [RCV003255576] Chr8:1905595 [GRCh38]
Chr8:1853761 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3592G>A (p.Glu1198Lys) single nucleotide variant Inborn genetic diseases [RCV003181444] Chr8:1956820 [GRCh38]
Chr8:1904986 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3478G>A (p.Ala1160Thr) single nucleotide variant Inborn genetic diseases [RCV003217759] Chr8:1952785 [GRCh38]
Chr8:1900951 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2609A>G (p.Lys870Arg) single nucleotide variant Inborn genetic diseases [RCV003201604] Chr8:1925403 [GRCh38]
Chr8:1873569 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.679+2T>A single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV003141491] Chr8:1869252 [GRCh38]
Chr8:1817418 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1030A>G (p.Lys344Glu) single nucleotide variant Autosomal dominant slowed nerve conduction velocity [RCV003141492] Chr8:1882704 [GRCh38]
Chr8:1830870 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.583C>T (p.Arg195Cys) single nucleotide variant Inborn genetic diseases [RCV003199912] Chr8:1866563 [GRCh38]
Chr8:1814729 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3746C>T (p.Ser1249Leu) single nucleotide variant Inborn genetic diseases [RCV003179176] Chr8:1956974 [GRCh38]
Chr8:1905140 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3228G>T (p.Gln1076His) single nucleotide variant Inborn genetic diseases [RCV003199392] Chr8:1945486 [GRCh38]
Chr8:1893652 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2842G>A (p.Gly948Arg) single nucleotide variant Inborn genetic diseases [RCV003212345] Chr8:1928571 [GRCh38]
Chr8:1876737 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3739C>G (p.Leu1247Val) single nucleotide variant Inborn genetic diseases [RCV003194083] Chr8:1956967 [GRCh38]
Chr8:1905133 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2456T>C (p.Val819Ala) single nucleotide variant Inborn genetic diseases [RCV003185266]|not provided [RCV003730444] Chr8:1923842 [GRCh38]
Chr8:1872008 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1147T>A (p.Leu383Met) single nucleotide variant not provided [RCV003319872] Chr8:1885672 [GRCh38]
Chr8:1833838 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2694_2697+2delinsAA indel not provided [RCV003321316] Chr8:1926460..1926465 [GRCh38]
Chr8:1874626..1874631 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1114A>G (p.Ile372Val) single nucleotide variant Inborn genetic diseases [RCV003285736] Chr8:1885639 [GRCh38]
Chr8:1833805 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.670T>A (p.Ser224Thr) single nucleotide variant Inborn genetic diseases [RCV003285737] Chr8:1869241 [GRCh38]
Chr8:1817407 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1 copy number loss See cases [RCV003329533] Chr8:10501..11142629 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.330C>T (p.Pro110=) single nucleotide variant not provided [RCV003327278] Chr8:1860033 [GRCh38]
Chr8:1808199 [GRCh37]
Chr8:8p23.3		 likely benign
GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1 copy number loss See cases [RCV003329559] Chr8:10501..6614959 [GRCh37]
Chr8:8p23.3-23.1		 likely pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
NM_014629.4(ARHGEF10):c.3868T>G (p.Ser1290Ala) single nucleotide variant Inborn genetic diseases [RCV003345625] Chr8:1957096 [GRCh38]
Chr8:1905262 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2096C>G (p.Ala699Gly) single nucleotide variant Inborn genetic diseases [RCV003374690] Chr8:1909423 [GRCh38]
Chr8:1857589 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.677C>A (p.Pro226Gln) single nucleotide variant Inborn genetic diseases [RCV003372325]|not provided [RCV003720871] Chr8:1869248 [GRCh38]
Chr8:1817414 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2791C>T (p.Arg931Cys) single nucleotide variant Inborn genetic diseases [RCV003356171] Chr8:1928520 [GRCh38]
Chr8:1876686 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2467C>A (p.Gln823Lys) single nucleotide variant Inborn genetic diseases [RCV003352496] Chr8:1923853 [GRCh38]
Chr8:1872019 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3335C>T (p.Thr1112Met) single nucleotide variant Inborn genetic diseases [RCV003370808] Chr8:1945593 [GRCh38]
Chr8:1893759 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3074C>A (p.Ala1025Asp) single nucleotide variant Inborn genetic diseases [RCV003370970] Chr8:1929438 [GRCh38]
Chr8:1877604 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3915G>T (p.Ser1305=) single nucleotide variant not provided [RCV003569389] Chr8:1957143 [GRCh38]
Chr8:1905309 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3656A>G (p.Gln1219Arg) single nucleotide variant not provided [RCV003569662] Chr8:1956884 [GRCh38]
Chr8:1905050 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2143+5G>C single nucleotide variant not provided [RCV003543774] Chr8:1909475 [GRCh38]
Chr8:1857641 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3(chr8:1755310-1924210)x1 copy number loss not provided [RCV003483006] Chr8:1755310..1924210 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1647C>G (p.Leu549=) single nucleotide variant not provided [RCV003570648] Chr8:1898522 [GRCh38]
Chr8:1846688 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1284G>C (p.Glu428Asp) single nucleotide variant not provided [RCV003826147] Chr8:1894416 [GRCh38]
Chr8:1842582 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1075+4C>T single nucleotide variant not provided [RCV003691301] Chr8:1882753 [GRCh38]
Chr8:1830919 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:158049-5762015)x3 copy number gain not provided [RCV003484710] Chr8:158049..5762015 [GRCh37]
Chr8:8p23.3-23.2		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3 copy number gain not provided [RCV003484711] Chr8:158049..7044046 [GRCh37]
Chr8:8p23.3-23.1		 uncertain significance
Single allele deletion not provided [RCV003448707] Chr8:162266..7226691 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1 copy number loss not provided [RCV003482999] Chr8:158049..11898696 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1 copy number loss not provided [RCV003483000] Chr8:158049..8192683 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.898T>G (p.Leu300Val) single nucleotide variant not provided [RCV003481868] Chr8:1880102 [GRCh38]
Chr8:1828268 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1 copy number loss not provided [RCV003482998] Chr8:158049..10007143 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_014629.4(ARHGEF10):c.1833T>C (p.Ser611=) single nucleotide variant not provided [RCV003435387] Chr8:1905582 [GRCh38]
Chr8:1853748 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3130C>T (p.Pro1044Ser) single nucleotide variant not provided [RCV003435389] Chr8:1933850 [GRCh38]
Chr8:1882016 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3(chr8:1603859-2121197)x1 copy number loss not provided [RCV003483004] Chr8:1603859..2121197 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1 copy number loss not provided [RCV003482997] Chr8:158049..8093066 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3(chr8:158049-2190480)x1 copy number loss not provided [RCV003483001] Chr8:158049..2190480 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3703G>C (p.Gly1235Arg) single nucleotide variant not provided [RCV003825405] Chr8:1956931 [GRCh38]
Chr8:1905097 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.534G>C (p.Glu178Asp) single nucleotide variant not provided [RCV003423871] Chr8:1864425 [GRCh38]
Chr8:1812591 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2065G>A (p.Ala689Thr) single nucleotide variant not provided [RCV003435388] Chr8:1909392 [GRCh38]
Chr8:1857558 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1656G>A (p.Met552Ile) single nucleotide variant not provided [RCV003423873] Chr8:1903286 [GRCh38]
Chr8:1851452 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.698A>T (p.Asp233Val) single nucleotide variant not provided [RCV003435383] Chr8:1876589 [GRCh38]
Chr8:1824755 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1529C>T (p.Thr510Ile) single nucleotide variant not provided [RCV003435385] Chr8:1896421 [GRCh38]
Chr8:1844587 [GRCh37]
Chr8:8p23.3		 likely benign|conflicting interpretations of pathogenicity
NM_014629.4(ARHGEF10):c.3819G>C (p.Glu1273Asp) single nucleotide variant ARHGEF10-related condition [RCV003391635] Chr8:1957047 [GRCh38]
Chr8:1905213 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.810C>T (p.Pro270=) single nucleotide variant not provided [RCV003423872] Chr8:1876701 [GRCh38]
Chr8:1824867 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.827G>C (p.Ser276Thr) single nucleotide variant not provided [RCV003435384] Chr8:1876718 [GRCh38]
Chr8:1824884 [GRCh37]
Chr8:8p23.3		 likely benign|conflicting interpretations of pathogenicity
NM_014629.4(ARHGEF10):c.3397+1804G>A single nucleotide variant not provided [RCV003435390] Chr8:1947459 [GRCh38]
Chr8:1895625 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3648C>G (p.Asp1216Glu) single nucleotide variant not specified [RCV003388327] Chr8:1956876 [GRCh38]
Chr8:1905042 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1578C>G (p.Pro526=) single nucleotide variant not provided [RCV003435386] Chr8:1898453 [GRCh38]
Chr8:1846619 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3336G>A (p.Thr1112=) single nucleotide variant not provided [RCV003545591] Chr8:1945594 [GRCh38]
Chr8:1893760 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3787_*319delinsTCC (p.Leu1263fs) indel not provided [RCV003579195] Chr8:1957015..1957582 [GRCh38]
Chr8:1905181..1905748 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3406C>A (p.Arg1136=) single nucleotide variant not provided [RCV003740325] Chr8:1952713 [GRCh38]
Chr8:1900879 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1583G>A (p.Arg528Gln) single nucleotide variant not provided [RCV003740012] Chr8:1898458 [GRCh38]
Chr8:1846624 [GRCh37]
Chr8:8p23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014629.4(ARHGEF10):c.591C>A (p.Ala197=) single nucleotide variant not provided [RCV003696759] Chr8:1866571 [GRCh38]
Chr8:1814737 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2922-17G>C single nucleotide variant not provided [RCV003879721] Chr8:1929269 [GRCh38]
Chr8:1877435 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1002C>T (p.Asp334=) single nucleotide variant not provided [RCV003740369] Chr8:1882676 [GRCh38]
Chr8:1830842 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.50A>G (p.Lys17Arg) single nucleotide variant not provided [RCV003578999] Chr8:1857972 [GRCh38]
Chr8:1806138 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2526C>T (p.Asp842=) single nucleotide variant not provided [RCV003830009] Chr8:1925320 [GRCh38]
Chr8:1873486 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3453C>T (p.Val1151=) single nucleotide variant not provided [RCV003739889] Chr8:1952760 [GRCh38]
Chr8:1900926 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1006C>A (p.Leu336Met) single nucleotide variant not provided [RCV003577898] Chr8:1882680 [GRCh38]
Chr8:1830846 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.352G>T (p.Gly118Cys) single nucleotide variant not provided [RCV003876129] Chr8:1860055 [GRCh38]
Chr8:1808221 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2266A>T (p.Asn756Tyr) single nucleotide variant not provided [RCV003575218] Chr8:1923474 [GRCh38]
Chr8:1871640 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1968-12del deletion not provided [RCV003826803] Chr8:1909280 [GRCh38]
Chr8:1857446 [GRCh37]
Chr8:8p23.3		 benign
NM_014629.4(ARHGEF10):c.3906G>C (p.Lys1302Asn) single nucleotide variant not provided [RCV003659945] Chr8:1957134 [GRCh38]
Chr8:1905300 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2387+20C>T single nucleotide variant not provided [RCV003826072] Chr8:1923615 [GRCh38]
Chr8:1871781 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.74A>G (p.Glu25Gly) single nucleotide variant not provided [RCV003716014] Chr8:1857996 [GRCh38]
Chr8:1806162 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.193+6T>G single nucleotide variant not provided [RCV003879884] Chr8:1858121 [GRCh38]
Chr8:1806287 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1136C>G (p.Pro379Arg) single nucleotide variant not provided [RCV003825133] Chr8:1885661 [GRCh38]
Chr8:1833827 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3163T>C (p.Leu1055=) single nucleotide variant not provided [RCV003575742] Chr8:1933883 [GRCh38]
Chr8:1882049 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2527G>T (p.Asp843Tyr) single nucleotide variant not provided [RCV003694664] Chr8:1925321 [GRCh38]
Chr8:1873487 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2723G>T (p.Gly908Val) single nucleotide variant not provided [RCV003578516] Chr8:1928452 [GRCh38]
Chr8:1876618 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.253C>T (p.Leu85Phe) single nucleotide variant not provided [RCV003579049] Chr8:1859956 [GRCh38]
Chr8:1808122 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2611-3T>C single nucleotide variant not provided [RCV003660280] Chr8:1926374 [GRCh38]
Chr8:1874540 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1085C>G (p.Ser362Cys) single nucleotide variant not provided [RCV003825132] Chr8:1885610 [GRCh38]
Chr8:1833776 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2469G>T (p.Gln823His) single nucleotide variant not provided [RCV003691300] Chr8:1923855 [GRCh38]
Chr8:1872021 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.340G>A (p.Glu114Lys) single nucleotide variant not provided [RCV003574014] Chr8:1860043 [GRCh38]
Chr8:1808209 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.716A>C (p.Glu239Ala) single nucleotide variant not provided [RCV003543832] Chr8:1876607 [GRCh38]
Chr8:1824773 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2994C>T (p.Ser998=) single nucleotide variant not provided [RCV003714903] Chr8:1929358 [GRCh38]
Chr8:1877524 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3145C>T (p.Leu1049Phe) single nucleotide variant not provided [RCV003574158] Chr8:1933865 [GRCh38]
Chr8:1882031 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1316T>G (p.Leu439Arg) single nucleotide variant not provided [RCV003835851] Chr8:1894448 [GRCh38]
Chr8:1842614 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1712C>T (p.Thr571Ile) single nucleotide variant not provided [RCV003580458] Chr8:1903342 [GRCh38]
Chr8:1851508 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1183-7C>T single nucleotide variant not provided [RCV003849628] Chr8:1893562 [GRCh38]
Chr8:1841728 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3294G>A (p.Trp1098Ter) single nucleotide variant not provided [RCV003717539] Chr8:1945552 [GRCh38]
Chr8:1893718 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.334G>A (p.Ala112Thr) single nucleotide variant not provided [RCV003814174] Chr8:1860037 [GRCh38]
Chr8:1808203 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1161C>T (p.Pro387=) single nucleotide variant not provided [RCV003832485] Chr8:1885686 [GRCh38]
Chr8:1833852 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1590G>A (p.Thr530=) single nucleotide variant not provided [RCV003717971] Chr8:1898465 [GRCh38]
Chr8:1846631 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1903A>G (p.Lys635Glu) single nucleotide variant not provided [RCV003703465] Chr8:1905652 [GRCh38]
Chr8:1853818 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1760C>T (p.Ala587Val) single nucleotide variant not provided [RCV003840062] Chr8:1903390 [GRCh38]
Chr8:1851556 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.145G>A (p.Ala49Thr) single nucleotide variant not provided [RCV003726835] Chr8:1858067 [GRCh38]
Chr8:1806233 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3556C>A (p.Pro1186Thr) single nucleotide variant not provided [RCV003669848] Chr8:1956784 [GRCh38]
Chr8:1904950 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.816C>A (p.Ser272=) single nucleotide variant not provided [RCV003831996] Chr8:1876707 [GRCh38]
Chr8:1824873 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.782G>C (p.Ser261Thr) single nucleotide variant not provided [RCV003559241] Chr8:1876673 [GRCh38]
Chr8:1824839 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1396G>A (p.Glu466Lys) single nucleotide variant not provided [RCV003558105] Chr8:1894528 [GRCh38]
Chr8:1842694 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3979C>G (p.Gln1327Glu) single nucleotide variant not provided [RCV003816892] Chr8:1957207 [GRCh38]
Chr8:1905373 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.961-11C>T single nucleotide variant not provided [RCV003667660] Chr8:1882624 [GRCh38]
Chr8:1830790 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2315T>C (p.Leu772Ser) single nucleotide variant not provided [RCV003559338] Chr8:1923523 [GRCh38]
Chr8:1871689 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2342C>G (p.Ala781Gly) single nucleotide variant not provided [RCV003669494] Chr8:1923550 [GRCh38]
Chr8:1871716 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2503A>G (p.Met835Val) single nucleotide variant not provided [RCV003698439] Chr8:1925297 [GRCh38]
Chr8:1873463 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3887G>A (p.Arg1296His) single nucleotide variant not provided [RCV003854377] Chr8:1957115 [GRCh38]
Chr8:1905281 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1265A>G (p.Tyr422Cys) single nucleotide variant not provided [RCV003724742] Chr8:1894397 [GRCh38]
Chr8:1842563 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.138C>G (p.Ala46=) single nucleotide variant not provided [RCV003725587] Chr8:1858060 [GRCh38]
Chr8:1806226 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1918C>T (p.Arg640Ter) single nucleotide variant not provided [RCV003560799] Chr8:1905667 [GRCh38]
Chr8:1853833 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1662G>A (p.Lys554=) single nucleotide variant not provided [RCV003836404] Chr8:1903292 [GRCh38]
Chr8:1851458 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3398-16A>C single nucleotide variant not provided [RCV003671617] Chr8:1952689 [GRCh38]
Chr8:1900855 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2921+12T>C single nucleotide variant not provided [RCV003723423] Chr8:1928662 [GRCh38]
Chr8:1876828 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2428T>A (p.Phe810Ile) single nucleotide variant not provided [RCV003666625] Chr8:1923814 [GRCh38]
Chr8:1871980 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1183-4A>C single nucleotide variant not provided [RCV003836690] Chr8:1893565 [GRCh38]
Chr8:1841731 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1839C>G (p.Ser613Arg) single nucleotide variant not provided [RCV003836055] Chr8:1905588 [GRCh38]
Chr8:1853754 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2143+9T>C single nucleotide variant not provided [RCV003811054] Chr8:1909479 [GRCh38]
Chr8:1857645 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3429C>T (p.Leu1143=) single nucleotide variant not provided [RCV003836596] Chr8:1952736 [GRCh38]
Chr8:1900902 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3397+19G>A single nucleotide variant not provided [RCV003855244] Chr8:1945674 [GRCh38]
Chr8:1893840 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3358G>C (p.Asp1120His) single nucleotide variant not provided [RCV003822659] Chr8:1945616 [GRCh38]
Chr8:1893782 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1683C>T (p.Pro561=) single nucleotide variant not provided [RCV003861884] Chr8:1903313 [GRCh38]
Chr8:1851479 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2143+12T>A single nucleotide variant not provided [RCV003841525] Chr8:1909482 [GRCh38]
Chr8:1857648 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.194-4C>G single nucleotide variant not provided [RCV003710364] Chr8:1859893 [GRCh38]
Chr8:1808059 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.420C>T (p.Pro140=) single nucleotide variant not provided [RCV003554442] Chr8:1860123 [GRCh38]
Chr8:1808289 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.324C>A (p.Pro108=) single nucleotide variant not provided [RCV003858432] Chr8:1860027 [GRCh38]
Chr8:1808193 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.83G>C (p.Gly28Ala) single nucleotide variant not provided [RCV003842222] Chr8:1858005 [GRCh38]
Chr8:1806171 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2594A>C (p.Lys865Thr) single nucleotide variant not provided [RCV003706636] Chr8:1925388 [GRCh38]
Chr8:1873554 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1408G>T (p.Val470Leu) single nucleotide variant not provided [RCV003734209] Chr8:1894540 [GRCh38]
Chr8:1842706 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1103A>G (p.Gln368Arg) single nucleotide variant not provided [RCV003859270] Chr8:1885628 [GRCh38]
Chr8:1833794 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.446C>T (p.Pro149Leu) single nucleotide variant not provided [RCV003733164] Chr8:1860149 [GRCh38]
Chr8:1808315 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3030G>C (p.Leu1010=) single nucleotide variant not provided [RCV003726811] Chr8:1929394 [GRCh38]
Chr8:1877560 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1076-4T>A single nucleotide variant not provided [RCV003557223] Chr8:1885597 [GRCh38]
Chr8:1833763 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2260-19G>A single nucleotide variant not provided [RCV003819328] Chr8:1923449 [GRCh38]
Chr8:1871615 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1154C>A (p.Pro385Gln) single nucleotide variant not provided [RCV003564613] Chr8:1885679 [GRCh38]
Chr8:1833845 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2307G>C (p.Arg769Ser) single nucleotide variant not provided [RCV003869263] Chr8:1923515 [GRCh38]
Chr8:1871681 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3(chr8:1876159-1926958)x1 copy number loss not specified [RCV003986757] Chr8:1876159..1926958 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1333C>T (p.Arg445Ter) single nucleotide variant not provided [RCV003722629] Chr8:1894465 [GRCh38]
Chr8:1842631 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2399C>T (p.Pro800Leu) single nucleotide variant not provided [RCV003845296] Chr8:1923785 [GRCh38]
Chr8:1871951 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1239T>A (p.Asp413Glu) single nucleotide variant not provided [RCV003722732] Chr8:1893625 [GRCh38]
Chr8:1841791 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_014629.4(ARHGEF10):c.3715G>T (p.Ala1239Ser) single nucleotide variant not provided [RCV003845484] Chr8:1956943 [GRCh38]
Chr8:1905109 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2273C>T (p.Ser758Leu) single nucleotide variant not provided [RCV003853696] Chr8:1923481 [GRCh38]
Chr8:1871647 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2569G>A (p.Gly857Arg) single nucleotide variant not provided [RCV003722808] Chr8:1925363 [GRCh38]
Chr8:1873529 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2804T>C (p.Met935Thr) single nucleotide variant not provided [RCV003720041] Chr8:1928533 [GRCh38]
Chr8:1876699 [GRCh37]
Chr8:8p23.3		 uncertain significance
GRCh37/hg19 8p23.3-23.2(chr8:158048-5813459)x1 copy number loss not specified [RCV003986747] Chr8:158048..5813459 [GRCh37]
Chr8:8p23.3-23.2		 pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_014629.4(ARHGEF10):c.139C>T (p.Pro47Ser) single nucleotide variant not provided [RCV003719872] Chr8:1858061 [GRCh38]
Chr8:1806227 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.665C>G (p.Ser222Ter) single nucleotide variant not provided [RCV003857680] Chr8:1869236 [GRCh38]
Chr8:1817402 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3178G>A (p.Gly1060Arg) single nucleotide variant not provided [RCV003842922] Chr8:1933898 [GRCh38]
Chr8:1882064 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3398-7C>G single nucleotide variant not provided [RCV003676784] Chr8:1952698 [GRCh38]
Chr8:1900864 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1233C>T (p.Tyr411=) single nucleotide variant not provided [RCV003862947] Chr8:1893619 [GRCh38]
Chr8:1841785 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3467G>C (p.Gly1156Ala) single nucleotide variant not provided [RCV003867216] Chr8:1952774 [GRCh38]
Chr8:1900940 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1810T>C (p.Tyr604His) single nucleotide variant not provided [RCV003557345] Chr8:1903440 [GRCh38]
Chr8:1851606 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2553G>C (p.Lys851Asn) single nucleotide variant not provided [RCV003686043] Chr8:1925347 [GRCh38]
Chr8:1873513 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1822-3C>T single nucleotide variant not provided [RCV003722752] Chr8:1905568 [GRCh38]
Chr8:1853734 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2845G>C (p.Ala949Pro) single nucleotide variant not provided [RCV003859711] Chr8:1928574 [GRCh38]
Chr8:1876740 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3665C>A (p.Ala1222Glu) single nucleotide variant not provided [RCV003722909] Chr8:1956893 [GRCh38]
Chr8:1905059 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3427C>T (p.Leu1143Phe) single nucleotide variant not provided [RCV003847132] Chr8:1952734 [GRCh38]
Chr8:1900900 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3686G>C (p.Gly1229Ala) single nucleotide variant not provided [RCV003723063] Chr8:1956914 [GRCh38]
Chr8:1905080 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.294G>A (p.Thr98=) single nucleotide variant not provided [RCV003738630] Chr8:1859997 [GRCh38]
Chr8:1808163 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2044G>A (p.Ala682Thr) single nucleotide variant not provided [RCV003843805] Chr8:1909371 [GRCh38]
Chr8:1857537 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3518C>G (p.Thr1173Ser) single nucleotide variant not provided [RCV003562682] Chr8:1952825 [GRCh38]
Chr8:1900991 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2734A>G (p.Ile912Val) single nucleotide variant not provided [RCV003712378] Chr8:1928463 [GRCh38]
Chr8:1876629 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3918G>A (p.Ala1306=) single nucleotide variant not provided [RCV003867876] Chr8:1957146 [GRCh38]
Chr8:1905312 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3485C>T (p.Pro1162Leu) single nucleotide variant not provided [RCV003823910] Chr8:1952792 [GRCh38]
Chr8:1900958 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.160G>A (p.Gly54Ser) single nucleotide variant not provided [RCV003734791] Chr8:1858082 [GRCh38]
Chr8:1806248 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1968-7G>A single nucleotide variant not provided [RCV003819199] Chr8:1909288 [GRCh38]
Chr8:1857454 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1557+3A>C single nucleotide variant not provided [RCV003857002] Chr8:1896452 [GRCh38]
Chr8:1844618 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1390G>A (p.Val464Ile) single nucleotide variant not provided [RCV003732301] Chr8:1894522 [GRCh38]
Chr8:1842688 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1261-16G>A single nucleotide variant not provided [RCV003856856] Chr8:1894377 [GRCh38]
Chr8:1842543 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2026C>A (p.Pro676Thr) single nucleotide variant not provided [RCV003840596] Chr8:1909353 [GRCh38]
Chr8:1857519 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.955C>G (p.Leu319Val) single nucleotide variant not provided [RCV003840713] Chr8:1880159 [GRCh38]
Chr8:1828325 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.3397+15C>T single nucleotide variant not provided [RCV003819646] Chr8:1945670 [GRCh38]
Chr8:1893836 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.3285C>T (p.Val1095=) single nucleotide variant not provided [RCV003846403] Chr8:1945543 [GRCh38]
Chr8:1893709 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.502G>T (p.Asp168Tyr) single nucleotide variant not provided [RCV003846468] Chr8:1864393 [GRCh38]
Chr8:1812559 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.890T>A (p.Met297Lys) single nucleotide variant not provided [RCV003710695] Chr8:1880094 [GRCh38]
Chr8:1828260 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1200A>T (p.Ile400=) single nucleotide variant not provided [RCV003819887] Chr8:1893586 [GRCh38]
Chr8:1841752 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.990C>T (p.Asp330=) single nucleotide variant not provided [RCV003727287] Chr8:1882664 [GRCh38]
Chr8:1830830 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2611-18G>T single nucleotide variant not provided [RCV003857366] Chr8:1926359 [GRCh38]
Chr8:1874525 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2240A>G (p.Asn747Ser) single nucleotide variant not provided [RCV003842114] Chr8:1923060 [GRCh38]
Chr8:1871226 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1726C>G (p.Leu576Val) single nucleotide variant not provided [RCV003553628] Chr8:1903356 [GRCh38]
Chr8:1851522 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.893G>A (p.Arg298Lys) single nucleotide variant not provided [RCV003729103] Chr8:1880097 [GRCh38]
Chr8:1828263 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1090C>G (p.Leu364Val) single nucleotide variant not specified [RCV003988582] Chr8:1885615 [GRCh38]
Chr8:1833781 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.1803C>T (p.Asn601=) single nucleotide variant ARHGEF10-related condition [RCV003909371] Chr8:1903433 [GRCh38]
Chr8:1851599 [GRCh37]
Chr8:8p23.3		 likely benign
GRCh37/hg19 8p23.3(chr8:1774277-2000431)x3 copy number gain not provided [RCV003885519] Chr8:1774277..2000431 [GRCh37]
Chr8:8p23.3		 uncertain significance
NM_014629.4(ARHGEF10):c.2004G>A (p.Arg668=) single nucleotide variant ARHGEF10-related condition [RCV003959276] Chr8:1909331 [GRCh38]
Chr8:1857497 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.162T>G (p.Gly54=) single nucleotide variant ARHGEF10-related condition [RCV003976787] Chr8:1858084 [GRCh38]
Chr8:1806250 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.545+7G>A single nucleotide variant ARHGEF10-related condition [RCV003979415] Chr8:1864443 [GRCh38]
Chr8:1812609 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.37+5C>T single nucleotide variant ARHGEF10-related condition [RCV003976947] Chr8:1843441 [GRCh38]
Chr8:1791607 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.1137G>A (p.Pro379=) single nucleotide variant not provided [RCV003885166] Chr8:1885662 [GRCh38]
Chr8:1833828 [GRCh37]
Chr8:8p23.3		 likely benign
NM_014629.4(ARHGEF10):c.2565C>T (p.Leu855=) single nucleotide variant not provided [RCV003885136] Chr8:1925359 [GRCh38]
Chr8:1873525 [GRCh37]
Chr8:8p23.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4801
Count of miRNA genes:1075
Interacting mature miRNAs:1307
Transcripts:ENST00000262112, ENST00000349830, ENST00000382795, ENST00000398560, ENST00000398564, ENST00000518288, ENST00000519641, ENST00000520359, ENST00000520972, ENST00000521927, ENST00000522435, ENST00000522969, ENST00000523596, ENST00000523711, ENST00000523980, ENST00000524212
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.

Markers in Region
AF009206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,805,973 - 1,806,112UniSTSGRCh37
Build 3681,793,380 - 1,793,519RGDNCBI36
Celera81,749,179 - 1,749,317RGD
Cytogenetic Map8p23UniSTS
HuRef81,621,957 - 1,622,092UniSTS
RH98569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,816,952 - 1,817,092UniSTSGRCh37
Build 3681,804,359 - 1,804,499RGDNCBI36
Celera81,760,089 - 1,760,229RGD
Cytogenetic Map8p23UniSTS
HuRef81,633,025 - 1,633,165UniSTS
GeneMap99-GB4 RH Map820.61UniSTS
RH92255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,855,676 - 1,855,798UniSTSGRCh37
Build 3681,843,083 - 1,843,205RGDNCBI36
Celera81,798,569 - 1,798,691RGD
Cytogenetic Map8p23UniSTS
HuRef81,672,032 - 1,672,154UniSTS
GeneMap99-GB4 RH Map817.67UniSTS
SHGC-81479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,859,397 - 1,859,698UniSTSGRCh37
Build 3681,846,804 - 1,847,105RGDNCBI36
Celera81,802,289 - 1,802,590RGD
Cytogenetic Map8p23UniSTS
HuRef81,675,762 - 1,676,063UniSTS
TNG Radiation Hybrid Map8697.0UniSTS
RH119618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,871,829 - 1,872,023UniSTSGRCh37
Build 3681,859,236 - 1,859,430RGDNCBI36
Celera81,814,578 - 1,814,772RGD
Cytogenetic Map8p23UniSTS
HuRef81,688,190 - 1,688,384UniSTS
TNG Radiation Hybrid Map8681.0UniSTS
G63133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,843,099 - 1,843,399UniSTSGRCh37
Build 3681,830,506 - 1,830,806RGDNCBI36
Celera81,785,991 - 1,786,291RGD
Cytogenetic Map8p23UniSTS
HuRef81,659,454 - 1,659,754UniSTS
TNG Radiation Hybrid Map8702.0UniSTS
WI-11694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,906,687 - 1,906,788UniSTSGRCh37
Build 3681,894,094 - 1,894,195RGDNCBI36
Celera81,849,153 - 1,849,254RGD
Cytogenetic Map8p23UniSTS
HuRef81,722,975 - 1,723,076UniSTS
GeneMap99-GB4 RH Map820.03UniSTS
Whitehead-RH Map816.8UniSTS
NCBI RH Map820.6UniSTS
RH79054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,868,782 - 1,868,864UniSTSGRCh37
Build 3681,856,189 - 1,856,271RGDNCBI36
Celera81,811,530 - 1,811,612RGD
Cytogenetic Map8p23UniSTS
HuRef81,685,142 - 1,685,224UniSTS
GeneMap99-GB4 RH Map820.61UniSTS
AF009214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,814,540 - 1,814,767UniSTSGRCh37
Build 3681,801,947 - 1,802,174RGDNCBI36
Celera81,757,679 - 1,757,904RGD
Cytogenetic Map8p23UniSTS
HuRef81,630,638 - 1,630,861UniSTS
AF009213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,840,434 - 1,840,687UniSTSGRCh37
Build 3681,827,841 - 1,828,094RGDNCBI36
Celera81,783,331 - 1,783,580RGD
Cytogenetic Map8p23UniSTS
HuRef81,656,792 - 1,657,043UniSTS
ARHGEF10_3936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3781,906,107 - 1,906,819UniSTSGRCh37
Build 3681,893,514 - 1,894,226RGDNCBI36
Celera81,848,573 - 1,849,285RGD
HuRef81,722,395 - 1,723,107UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1899 1668 937 145 198 12 3428 1008 1967 165 1233 1426 143 1181 1939 1
Low 507 723 735 427 673 401 927 1178 1735 248 211 169 28 23 849 3
Below cutoff 24 593 38 36 761 37 3 12 4 5 12

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA758332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB002292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF009205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI348138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN307765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ766815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000349830   ⟹   ENSP00000340297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,823,926 - 1,958,641 (+)Ensembl
RefSeq Acc Id: ENST00000382795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,858,755 - 1,869,280 (+)Ensembl
RefSeq Acc Id: ENST00000398560   ⟹   ENSP00000381568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,858,755 - 1,904,096 (+)Ensembl
RefSeq Acc Id: ENST00000398564   ⟹   ENSP00000381571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,826,111 - 1,958,633 (+)Ensembl
RefSeq Acc Id: ENST00000518288   ⟹   ENSP00000431012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,824,015 - 1,958,641 (+)Ensembl
RefSeq Acc Id: ENST00000519641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,923,196 - 1,923,874 (+)Ensembl
RefSeq Acc Id: ENST00000520359   ⟹   ENSP00000427909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,823,988 - 1,958,641 (+)Ensembl
RefSeq Acc Id: ENST00000520972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,859,894 - 1,904,110 (+)Ensembl
RefSeq Acc Id: ENST00000521927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,943,654 - 1,957,205 (+)Ensembl
RefSeq Acc Id: ENST00000522435   ⟹   ENSP00000427768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,882,656 - 1,958,639 (+)Ensembl
RefSeq Acc Id: ENST00000522969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,859,915 - 1,871,131 (+)Ensembl
RefSeq Acc Id: ENST00000523596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,943,594 - 1,952,774 (+)Ensembl
RefSeq Acc Id: ENST00000523711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,876,051 - 1,927,513 (+)Ensembl
RefSeq Acc Id: ENST00000523980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,943,595 - 1,945,919 (+)Ensembl
RefSeq Acc Id: ENST00000524212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl81,904,235 - 1,923,490 (+)Ensembl
RefSeq Acc Id: NM_001308152   ⟹   NP_001295081
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,926 - 1,958,641 (+)NCBI
CHM1_181,772,104 - 1,906,332 (+)NCBI
T2T-CHM13v2.081,602,426 - 1,736,745 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308153   ⟹   NP_001295082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,926 - 1,958,641 (+)NCBI
CHM1_181,772,104 - 1,906,332 (+)NCBI
T2T-CHM13v2.081,602,426 - 1,736,745 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014629   ⟹   NP_055444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,926 - 1,958,641 (+)NCBI
GRCh3781,772,149 - 1,906,807 (+)RGD
Build 3681,759,556 - 1,894,214 (+)NCBI Archive
Celera81,715,545 - 1,849,273 (+)RGD
HuRef81,586,197 - 1,723,095 (+)RGD
CHM1_181,772,104 - 1,906,332 (+)NCBI
T2T-CHM13v2.081,602,426 - 1,736,745 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266041   ⟹   XP_005266098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,926 - 1,958,641 (+)NCBI
GRCh3781,772,149 - 1,906,807 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534768   ⟹   XP_011533070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,843,353 - 1,958,641 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534770   ⟹   XP_011533072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,843,353 - 1,950,421 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014003   ⟹   XP_016869492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,826,047 - 1,958,641 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447335   ⟹   XP_024303103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,841,623 - 1,958,641 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422449   ⟹   XP_047278405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,835,683 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422450   ⟹   XP_047278406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,338 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422451   ⟹   XP_047278407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,843,353 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422452   ⟹   XP_047278408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,329 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422453   ⟹   XP_047278409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,843,353 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422454   ⟹   XP_047278410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,338 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422455   ⟹   XP_047278411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,926 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422456   ⟹   XP_047278412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,350 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422457   ⟹   XP_047278413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,300 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422458   ⟹   XP_047278414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,926 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422459   ⟹   XP_047278415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,926 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_047422460   ⟹   XP_047278416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,843,353 - 1,950,421 (+)NCBI
RefSeq Acc Id: XM_047422461   ⟹   XP_047278417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,350 - 1,950,421 (+)NCBI
RefSeq Acc Id: XM_047422462   ⟹   XP_047278418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,876,561 - 1,958,641 (+)NCBI
RefSeq Acc Id: XM_054361538   ⟹   XP_054217513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,621,313 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361539   ⟹   XP_054217514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,604,892 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361540   ⟹   XP_054217515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,615,373 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361541   ⟹   XP_054217516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,602,426 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361542   ⟹   XP_054217517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,601,838 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361543   ⟹   XP_054217518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,623,061 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361544   ⟹   XP_054217519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,623,061 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361545   ⟹   XP_054217520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,601,829 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361546   ⟹   XP_054217521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,623,061 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361547   ⟹   XP_054217522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,601,838 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361548   ⟹   XP_054217523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,602,426 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361549   ⟹   XP_054217524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,601,850 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361550   ⟹   XP_054217525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,601,800 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361551   ⟹   XP_054217526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,602,426 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361552   ⟹   XP_054217527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,602,426 - 1,736,745 (+)NCBI
RefSeq Acc Id: XM_054361553   ⟹   XP_054217528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,623,061 - 1,730,775 (+)NCBI
RefSeq Acc Id: XM_054361554   ⟹   XP_054217529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,623,061 - 1,730,775 (+)NCBI
RefSeq Acc Id: XM_054361555   ⟹   XP_054217530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,601,850 - 1,730,775 (+)NCBI
RefSeq Acc Id: XM_054361556   ⟹   XP_054217531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,656,241 - 1,736,745 (+)NCBI
RefSeq Acc Id: XR_008487897
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.081,623,061 - 1,736,745 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001295081 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295082 (Get FASTA)   NCBI Sequence Viewer  
  NP_055444 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266098 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533070 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533072 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869492 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303103 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278405 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278406 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278407 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278408 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278409 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278410 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278411 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278412 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278413 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278414 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278415 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278416 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278417 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278418 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184797 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184798 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184799 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184800 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184801 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184810 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184811 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184812 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184813 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184814 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184815 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217513 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217514 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217515 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217516 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217517 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217518 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217519 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217520 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217521 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217522 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217523 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217524 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217525 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217526 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217527 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217528 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217529 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217530 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217531 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB71662 (Get FASTA)   NCBI Sequence Viewer  
  AAH36809 (Get FASTA)   NCBI Sequence Viewer  
  AAH40474 (Get FASTA)   NCBI Sequence Viewer  
  AAI12927 (Get FASTA)   NCBI Sequence Viewer  
  BAA20754 (Get FASTA)   NCBI Sequence Viewer  
  CAF33078 (Get FASTA)   NCBI Sequence Viewer  
  CAH10696 (Get FASTA)   NCBI Sequence Viewer  
  CAH18365 (Get FASTA)   NCBI Sequence Viewer  
  EAW51480 (Get FASTA)   NCBI Sequence Viewer  
  EAW51481 (Get FASTA)   NCBI Sequence Viewer  
  EAW51482 (Get FASTA)   NCBI Sequence Viewer  
  EAW51483 (Get FASTA)   NCBI Sequence Viewer  
  EAW51484 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000340297
  ENSP00000340297.3
  ENSP00000381568.2
  ENSP00000381571
  ENSP00000381571.1
  ENSP00000427768
  ENSP00000427768.1
  ENSP00000427909
  ENSP00000427909.1
  ENSP00000431012
  ENSP00000431012.1
  ENSP00000477521.1
  ENSP00000477988.1
  ENSP00000481974.1
  ENSP00000488343.1
  ENSP00000488344.1
  ENSP00000488463.1
GenBank Protein O15013 (Get FASTA)   NCBI Sequence Viewer  
  SPT35720 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_055444   ⟸   NM_014629
- Peptide Label: isoform 1
- UniProtKB: A0A2X0U4L4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005266098   ⟸   XM_005266041
- Peptide Label: isoform X4
- UniProtKB: A0A2X0U4L4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533070   ⟸   XM_011534768
- Peptide Label: isoform X6
- UniProtKB: A0A2X0U4L4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533072   ⟸   XM_011534770
- Peptide Label: isoform X13
- UniProtKB: A0A2X0U4L4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295082   ⟸   NM_001308153
- Peptide Label: isoform 3
- UniProtKB: A0A2X0U4L4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295081   ⟸   NM_001308152
- Peptide Label: isoform 2
- UniProtKB: A0A2X0U4L4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869492   ⟸   XM_017014003
- Peptide Label: isoform X2
- UniProtKB: Q8IWD9 (UniProtKB/Swiss-Prot),   Q68D55 (UniProtKB/Swiss-Prot),   Q2KHR8 (UniProtKB/Swiss-Prot),   O14665 (UniProtKB/Swiss-Prot),   Q8IY77 (UniProtKB/Swiss-Prot),   O15013 (UniProtKB/Swiss-Prot),   A0A2X0U4L4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303103   ⟸   XM_024447335
- Peptide Label: isoform X1
- UniProtKB: A0A2X0U4L4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000381568   ⟸   ENST00000398560
RefSeq Acc Id: ENSP00000381571   ⟸   ENST00000398564
RefSeq Acc Id: ENSP00000431012   ⟸   ENST00000518288
RefSeq Acc Id: ENSP00000340297   ⟸   ENST00000349830
RefSeq Acc Id: ENSP00000427909   ⟸   ENST00000520359
RefSeq Acc Id: ENSP00000427768   ⟸   ENST00000522435
RefSeq Acc Id: XP_047278413   ⟸   XM_047422457
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047278408   ⟸   XM_047422452
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047278406   ⟸   XM_047422450
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047278410   ⟸   XM_047422454
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047278412   ⟸   XM_047422456
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047278417   ⟸   XM_047422461
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047278415   ⟸   XM_047422459
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047278411   ⟸   XM_047422455
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047278414   ⟸   XM_047422458
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047278405   ⟸   XM_047422449
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047278409   ⟸   XM_047422453
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047278407   ⟸   XM_047422451
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047278416   ⟸   XM_047422460
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047278418   ⟸   XM_047422462
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054217525   ⟸   XM_054361550
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054217520   ⟸   XM_054361545
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054217517   ⟸   XM_054361542
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054217522   ⟸   XM_054361547
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054217524   ⟸   XM_054361549
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054217530   ⟸   XM_054361555
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054217516   ⟸   XM_054361541
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054217527   ⟸   XM_054361552
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054217523   ⟸   XM_054361548
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054217526   ⟸   XM_054361551
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054217514   ⟸   XM_054361539
- Peptide Label: isoform X2
- UniProtKB: O14665 (UniProtKB/Swiss-Prot),   Q8IWD9 (UniProtKB/Swiss-Prot),   Q68D55 (UniProtKB/Swiss-Prot),   Q2KHR8 (UniProtKB/Swiss-Prot),   O15013 (UniProtKB/Swiss-Prot),   Q8IY77 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054217515   ⟸   XM_054361540
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054217513   ⟸   XM_054361538
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054217521   ⟸   XM_054361546
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054217519   ⟸   XM_054361544
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054217518   ⟸   XM_054361543
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054217528   ⟸   XM_054361553
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054217529   ⟸   XM_054361554
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054217531   ⟸   XM_054361556
- Peptide Label: isoform X16
Protein Domains
DH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15013-F1-model_v2 AlphaFold O15013 1-1369 view protein structure

Promoters
RGD ID:6806502
Promoter ID:HG_KWN:60530
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562
Transcripts:ENST00000349830,   ENST00000382794,   ENST00000398560,   UC003WPQ.1,   UC003WPS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3681,759,064 - 1,759,564 (+)MPROMDB
RGD ID:7212519
Promoter ID:EPDNEW_H12001
Type:initiation region
Name:ARHGEF10_1
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,823,947 - 1,824,007EPDNEW
RGD ID:7212511
Promoter ID:EPDNEW_H12002
Type:initiation region
Name:ARHGEF10_6
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,824,076 - 1,824,136EPDNEW
RGD ID:7212513
Promoter ID:EPDNEW_H12003
Type:initiation region
Name:ARHGEF10_7
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,832,799 - 1,832,859EPDNEW
RGD ID:7212515
Promoter ID:EPDNEW_H12004
Type:initiation region
Name:ARHGEF10_5
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,858,775 - 1,858,835EPDNEW
RGD ID:7212517
Promoter ID:EPDNEW_H12005
Type:initiation region
Name:ARHGEF10_8
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,926,465 - 1,926,525EPDNEW
RGD ID:7212535
Promoter ID:EPDNEW_H12006
Type:initiation region
Name:ARHGEF10_9
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,928,604 - 1,928,664EPDNEW
RGD ID:7212521
Promoter ID:EPDNEW_H12007
Type:multiple initiation site
Name:ARHGEF10_10
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,945,590 - 1,945,650EPDNEW
RGD ID:7212523
Promoter ID:EPDNEW_H12008
Type:initiation region
Name:ARHGEF10_4
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12009  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,952,693 - 1,952,753EPDNEW
RGD ID:7212525
Promoter ID:EPDNEW_H12009
Type:initiation region
Name:ARHGEF10_11
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12010  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,957,028 - 1,957,088EPDNEW
RGD ID:7212527
Promoter ID:EPDNEW_H12010
Type:initiation region
Name:ARHGEF10_3
Description:Rho guanine nucleotide exchange factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11998  EPDNEW_H12002  EPDNEW_H12003  EPDNEW_H12004  EPDNEW_H12005  EPDNEW_H12001  EPDNEW_H12007  EPDNEW_H12008  EPDNEW_H12009  EPDNEW_H12006  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3881,957,388 - 1,957,448EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14103 AgrOrtholog
COSMIC ARHGEF10 COSMIC
Ensembl Genes ENSG00000104728 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000274726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000349830 ENTREZGENE
  ENST00000349830.8 UniProtKB/Swiss-Prot
  ENST00000398560.2 UniProtKB/TrEMBL
  ENST00000398564 ENTREZGENE
  ENST00000398564.5 UniProtKB/Swiss-Prot
  ENST00000518288 ENTREZGENE
  ENST00000518288.5 UniProtKB/Swiss-Prot
  ENST00000520359 ENTREZGENE
  ENST00000520359.5 UniProtKB/Swiss-Prot
  ENST00000522435 ENTREZGENE
  ENST00000522435.5 UniProtKB/TrEMBL
  ENST00000610399.4 UniProtKB/Swiss-Prot
  ENST00000616718.1 UniProtKB/TrEMBL
  ENST00000619613.4 UniProtKB/Swiss-Prot
  ENST00000631758.1 UniProtKB/Swiss-Prot
  ENST00000633616.1 UniProtKB/Swiss-Prot
  ENST00000634038.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104728 GTEx
  ENSG00000274726 GTEx
HGNC ID HGNC:14103 ENTREZGENE
Human Proteome Map ARHGEF10 Human Proteome Map
InterPro ARHGEF10/ARHGEF17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9639 UniProtKB/Swiss-Prot
NCBI Gene 9639 ENTREZGENE
OMIM 608136 OMIM
PANTHER PTHR12877 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12877:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PH_19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24967 PharmGKB
PROSITE DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2X0U4L4 ENTREZGENE, UniProtKB/TrEMBL
  ARHGA_HUMAN UniProtKB/Swiss-Prot
  E9PB39_HUMAN UniProtKB/TrEMBL
  H0YAN8_HUMAN UniProtKB/TrEMBL
  O14665 ENTREZGENE
  O15013 ENTREZGENE
  Q2KHR8 ENTREZGENE
  Q68D55 ENTREZGENE
  Q8IWD9 ENTREZGENE
  Q8IY77 ENTREZGENE
UniProt Secondary O14665 UniProtKB/Swiss-Prot
  Q2KHR8 UniProtKB/Swiss-Prot
  Q68D55 UniProtKB/Swiss-Prot
  Q8IWD9 UniProtKB/Swiss-Prot
  Q8IY77 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ARHGEF10  Rho guanine nucleotide exchange factor 10  ARHGEF10  Rho guanine nucleotide exchange factor (GEF) 10  Symbol and/or name change 5135510 APPROVED