EPHB4 (EPH receptor B4) - Rat Genome Database

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Gene: EPHB4 (EPH receptor B4) Homo sapiens
Analyze
Symbol: EPHB4
Name: EPH receptor B4
RGD ID: 1353692
HGNC Page HGNC:3395
Description: Enables ephrin receptor activity. Involved in several processes, including cell migration involved in sprouting angiogenesis; ephrin receptor signaling pathway; and protein autophosphorylation. Located in plasma membrane. Implicated in central conducting lymphatic anomaly. Biomarker of esophagus squamous cell carcinoma and hemangiopericytoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMAVM2; ephrin receptor EphB4; ephrin type-B receptor 4; hepatoma transmembrane kinase; HFASD; HTK; LMPHM7; MYK1; soluble EPHB4 variant 1; soluble EPHB4 variant 2; soluble EPHB4 variant 3; TYRO11; tyrosine-protein kinase receptor HTK; tyrosine-protein kinase TYRO11
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387100,802,565 - 100,827,523 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7100,802,565 - 100,827,523 (-)EnsemblGRCh38hg38GRCh38
GRCh377100,400,187 - 100,425,145 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,238,123 - 100,263,079 (-)NCBINCBI36Build 36hg18NCBI36
Build 347100,044,837 - 100,069,794NCBI
Celera795,130,741 - 95,155,701 (-)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef795,030,927 - 95,055,371 (-)NCBIHuRef
CHM1_17100,330,777 - 100,355,761 (-)NCBICHM1_1
T2T-CHM13v2.07102,042,646 - 102,067,608 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2799,759,792 - 99,784,748 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
17beta-estradiol  (EXP)
1H-1,2,4-triazole  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
cocaine  (EXP,ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
endosulfan  (ISO)
enzacamene  (EXP)
enzalutamide  (EXP)
epoxiconazole  (ISO)
fenthion  (ISO)
FR900359  (EXP)
genistein  (EXP)
gentamycin  (ISO)
gossypol  (EXP)
Heptachlor epoxide  (ISO)
inulin  (ISO)
lithocholic acid  (EXP)
methidathion  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-nitrosodiethylamine  (ISO)
nitrofen  (ISO)
Nutlin-3  (EXP)
omacetaxine mepesuccinate  (EXP)
orphenadrine  (ISO)
ozone  (ISO)
paracetamol  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (EXP)
ponatinib  (EXP)
quercetin  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
zearalenone  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormality of the lymphatic system  (IAGP)
Abnormality of the musculature of the limbs  (IAGP)
Absence of lymph node germinal center  (IAGP)
Anemia  (IAGP)
Angiosarcoma  (IAGP)
Arteriovenous fistula  (IAGP)
Arteriovenous malformation  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Atypical scarring of skin  (IAGP)
Autosomal dominant inheritance  (IAGP)
Capillary malformation  (IAGP)
Cellulitis  (IAGP)
Cerebral arteriovenous malformation  (IAGP)
Cerebral ischemia  (IAGP)
Chylothorax  (IAGP)
Cobblestone-like hyperkeratosis  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Edema  (IAGP)
Edema of the dorsum of hands  (IAGP)
Epistaxis  (IAGP)
Facial capillary hemangioma  (IAGP)
Facial edema  (IAGP)
Functional motor deficit  (IAGP)
Headache  (IAGP)
Hemangioma  (IAGP)
High-output congestive heart failure  (IAGP)
Hydrocephalus  (IAGP)
Hypopigmented macule  (IAGP)
Increased nuchal translucency  (IAGP)
Infantile onset  (IAGP)
Laryngeal edema  (IAGP)
Lymph node hypoplasia  (IAGP)
Lymphedema  (IAGP)
Macule  (IAGP)
Migraine  (IAGP)
Neoplasm  (IAGP)
Neurogenic bladder  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Pedal edema  (IAGP)
Pericardial effusion  (IAGP)
Periorbital edema  (IAGP)
Peripheral arteriovenous fistula  (IAGP)
Peripheral edema  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Pleural effusion  (IAGP)
Predominantly lower limb lymphedema  (IAGP)
Pulmonary edema  (IAGP)
Recurrent bacterial skin infections  (IAGP)
Recurrent skin infections  (IAGP)
Respiratory distress  (IAGP)
Seizure  (IAGP)
Skin dimple  (IAGP)
Skin erosion  (IAGP)
Skin ulcer  (IAGP)
Telangiectasia  (IAGP)
Tetralogy of Fallot  (IAGP)
Typified by incomplete penetrance  (IAGP)
Varicose veins  (IAGP)
Vascular dilatation  (IAGP)
Vascular skin abnormality  (IAGP)
Vein of Galen aneurysmal malformation  (IAGP)
Venous malformation  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Expression levels of EPHB4, EFNB2 and caspase-8 are associated with clinicopathological features and progression of esophageal squamous cell cancer. Ni Q, etal., Oncol Lett. 2020 Jan;19(1):917-929. doi: 10.3892/ol.2019.11160. Epub 2019 Nov 28.
3. Activation of multiple angiogenic signaling pathways in hemangiopericytoma. Pierscianek D, etal., Brain Tumor Pathol. 2016 Jul;33(3):200-8. doi: 10.1007/s10014-016-0256-6. Epub 2016 Mar 7.
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. BIBF1120 (Vargatef) Inhibits Preretinal Neovascularization and Enhances Normal Vascularization in a Model of Vasoproliferative Retinopathy. Rivera JC, etal., Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7897-907. doi: 10.1167/iovs.15-17146.
8. Downregulation of the endothelial genes Notch1 and ephrinB2 in patients with nodular regenerative hyperplasia. Rothweiler S, etal., Liver Int. 2014 Apr;34(4):594-603. doi: 10.1111/liv.12261. Epub 2013 Jul 21.
Additional References at PubMed
PMID:8152808   PMID:8188704   PMID:8831703   PMID:9267020   PMID:9388509   PMID:9530499   PMID:9576626   PMID:9718367   PMID:10037197   PMID:10207129   PMID:10518221   PMID:10730216  
PMID:11128993   PMID:11136979   PMID:11239002   PMID:11256076   PMID:11466354   PMID:11580899   PMID:11920461   PMID:11929761   PMID:12051776   PMID:12235151   PMID:12477932   PMID:12493773  
PMID:12690205   PMID:12734395   PMID:14764452   PMID:15126321   PMID:15193868   PMID:15358160   PMID:15489334   PMID:15722342   PMID:15930280   PMID:15951569   PMID:16107476   PMID:16171530  
PMID:16205642   PMID:16322467   PMID:16343615   PMID:16424904   PMID:16615113   PMID:16840724   PMID:16867992   PMID:16982731   PMID:17196593   PMID:17234965   PMID:17353927   PMID:17510705  
PMID:17611172   PMID:18231102   PMID:18340006   PMID:18593464   PMID:18957513   PMID:19035475   PMID:19272799   PMID:19322201   PMID:19356789   PMID:19366806   PMID:19552627   PMID:19597185  
PMID:19664212   PMID:20002159   PMID:20031623   PMID:20061560   PMID:20086179   PMID:20133814   PMID:20686847   PMID:21047731   PMID:21348050   PMID:21575518   PMID:21832049   PMID:21873635  
PMID:21935409   PMID:22024229   PMID:22374425   PMID:22528941   PMID:22684558   PMID:22684742   PMID:22990020   PMID:23063927   PMID:23079712   PMID:23100466   PMID:23138393   PMID:23211050  
PMID:23295955   PMID:23314808   PMID:23376485   PMID:23533145   PMID:23579861   PMID:23721559   PMID:23725356   PMID:23844053   PMID:24121831   PMID:24427781   PMID:24517927   PMID:24634162  
PMID:24677421   PMID:24733895   PMID:24764074   PMID:24771266   PMID:25051915   PMID:25148033   PMID:25191151   PMID:25274141   PMID:25391996   PMID:25446283   PMID:25581780   PMID:25724901  
PMID:25886373   PMID:26033476   PMID:26073592   PMID:26132739   PMID:26186194   PMID:26191333   PMID:26220827   PMID:26414866   PMID:26481148   PMID:26496610   PMID:26638075   PMID:27072105  
PMID:27072235   PMID:27226777   PMID:27400125   PMID:27503909   PMID:27553867   PMID:27827952   PMID:28165374   PMID:28292467   PMID:28319085   PMID:28371279   PMID:28514442   PMID:28687708  
PMID:28739744   PMID:28817624   PMID:28986522   PMID:29096333   PMID:29368976   PMID:29444212   PMID:29462967   PMID:29848571   PMID:29905864   PMID:29987450   PMID:30021884   PMID:30138897  
PMID:30476378   PMID:30561431   PMID:30578106   PMID:30760892   PMID:30776480   PMID:30839116   PMID:30894369   PMID:31017515   PMID:31073040   PMID:31197068   PMID:31270394   PMID:31427368  
PMID:31638179   PMID:31641103   PMID:31810288   PMID:31871319   PMID:31898661   PMID:32184358   PMID:32286515   PMID:32336043   PMID:32407961   PMID:32567728   PMID:33082297   PMID:33153234  
PMID:33545068   PMID:33598934   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34231312   PMID:34296545   PMID:34347982   PMID:34403370   PMID:34445227   PMID:34491620   PMID:34597346  
PMID:34709727   PMID:34857952   PMID:35163601   PMID:35337019   PMID:35384245   PMID:35696571   PMID:35748872   PMID:36215168   PMID:36736316   PMID:36813543   PMID:37108544   PMID:37507023  
PMID:37909437   PMID:38150042   PMID:38151336   PMID:39499777  


Genomics

Comparative Map Data
EPHB4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387100,802,565 - 100,827,523 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7100,802,565 - 100,827,523 (-)EnsemblGRCh38hg38GRCh38
GRCh377100,400,187 - 100,425,145 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,238,123 - 100,263,079 (-)NCBINCBI36Build 36hg18NCBI36
Build 347100,044,837 - 100,069,794NCBI
Celera795,130,741 - 95,155,701 (-)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef795,030,927 - 95,055,371 (-)NCBIHuRef
CHM1_17100,330,777 - 100,355,761 (-)NCBICHM1_1
T2T-CHM13v2.07102,042,646 - 102,067,608 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2799,759,792 - 99,784,748 (-)NCBI
Ephb4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395137,348,371 - 137,372,784 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5137,348,371 - 137,376,931 (+)EnsemblGRCm39 Ensembl
GRCm385137,350,109 - 137,374,522 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5137,350,109 - 137,378,669 (+)EnsemblGRCm38mm10GRCm38
MGSCv375137,791,337 - 137,815,750 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365137,579,945 - 137,604,277 (+)NCBIMGSCv36mm8
Celera5134,333,170 - 134,357,666 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map576.38NCBI
Ephb4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81224,963,174 - 24,988,473 (-)NCBIGRCr8
mRatBN7.21219,326,411 - 19,351,667 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1219,326,427 - 19,351,314 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01222,393,338 - 22,418,332 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1222,393,330 - 22,417,980 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01224,407,927 - 24,432,912 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1221,128,289 - 21,153,496 (-)NCBICelera
Cytogenetic Map12q12NCBI
Ephb4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955573132,328 - 152,595 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955573132,328 - 150,879 (+)NCBIChiLan1.0ChiLan1.0
EPHB4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26118,706,109 - 118,731,025 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17166,970,743 - 166,995,654 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0792,827,550 - 92,852,462 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17106,223,427 - 106,248,022 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7106,223,427 - 106,248,022 (-)Ensemblpanpan1.1panPan2
EPHB4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.168,925,303 - 8,943,284 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl68,924,686 - 8,942,324 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha610,631,634 - 10,649,370 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.068,861,650 - 8,879,327 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl68,861,521 - 8,879,316 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.168,714,171 - 8,731,877 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.068,692,052 - 8,709,742 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.068,874,020 - 8,891,770 (+)NCBIUU_Cfam_GSD_1.0
Ephb4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344133,224,893 - 133,241,678 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936543794,725 - 811,637 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936543794,837 - 811,637 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPHB4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl38,668,859 - 8,689,783 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.138,671,052 - 8,689,778 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.238,097,951 - 8,116,183 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EPHB4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12812,389,884 - 12,416,746 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2812,389,942 - 12,416,920 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660703,908,378 - 3,935,258 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ephb4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474016,320,697 - 16,339,777 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474016,320,672 - 16,339,454 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EPHB4
717 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004444.5(EPHB4):c.288G>T (p.Glu96Asp) single nucleotide variant not provided [RCV003321129] Chr7:100823767 [GRCh38]
Chr7:100421389 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 copy number gain See cases [RCV000053573] Chr7:98288474..101259804 [GRCh38]
Chr7:97917786..100903085 [GRCh37]
Chr7:97755722..100689805 [NCBI36]
Chr7:7q21.3-22.1		 pathogenic
GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1 copy number loss See cases [RCV000054154] Chr7:99219420..100902269 [GRCh38]
Chr7:98817043..100499889 [GRCh37]
Chr7:98654979..100337825 [NCBI36]
Chr7:7q22.1		 pathogenic
GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1 copy number loss See cases [RCV000054155] Chr7:100419914..102482826 [GRCh38]
Chr7:100017537..102123273 [GRCh37]
Chr7:99855473..101910278 [NCBI36]
Chr7:7q22.1		 pathogenic
NM_004444.4(EPHB4):c.2349C>T (p.Pro783=) single nucleotide variant Malignant melanoma [RCV000067531] Chr7:100806555 [GRCh38]
Chr7:100404177 [GRCh37]
Chr7:100242113 [NCBI36]
Chr7:7q22.1		 not provided
NM_004444.4(EPHB4):c.1037C>T (p.Pro346Leu) single nucleotide variant Malignant melanoma [RCV000067532] Chr7:100819817 [GRCh38]
Chr7:100417439 [GRCh37]
Chr7:100255375 [NCBI36]
Chr7:7q22.1		 not provided
NM_004444.4(EPHB4):c.1414C>T (p.His472Tyr) single nucleotide variant Malignant melanoma [RCV000061507] Chr7:100818528 [GRCh38]
Chr7:100416150 [GRCh37]
Chr7:100254086 [NCBI36]
Chr7:7q22.1		 not provided
NM_004444.5(EPHB4):c.2485-11C>T single nucleotide variant not provided [RCV001812994] Chr7:100805705 [GRCh38]
Chr7:100403327 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1423-6G>A single nucleotide variant Hereditary lymphedema type I [RCV002274179]|not provided [RCV001810558] Chr7:100817363 [GRCh38]
Chr7:100414985 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1 copy number loss See cases [RCV000135782] Chr7:99195836..102258175 [GRCh38]
Chr7:98793459..101718950 [GRCh37]
Chr7:98631395..101688175 [NCBI36]
Chr7:7q22.1		 pathogenic|uncertain significance
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 copy number gain See cases [RCV000138109] Chr7:99932610..102473188 [GRCh38]
Chr7:99530233..102113635 [GRCh37]
Chr7:99368169..101900640 [NCBI36]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004444.5(EPHB4):c.1180C>T (p.Arg394Ter) single nucleotide variant not provided [RCV000757224] Chr7:100819674 [GRCh38]
Chr7:100417296 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu) single nucleotide variant Tetralogy of Fallot [RCV000408650]|not provided [RCV004719758] Chr7:100819874 [GRCh38]
Chr7:100417496 [GRCh37]
Chr7:7q22.1		 likely pathogenic|uncertain significance
NM_004444.5(EPHB4):c.2345T>G (p.Ile782Ser) single nucleotide variant Lymphatic malformation 7 [RCV000415536] Chr7:100806559 [GRCh38]
Chr7:100404181 [GRCh37]
Chr7:7q22.1		 pathogenic|risk factor
NM_004444.5(EPHB4):c.2216G>A (p.Arg739Gln) single nucleotide variant Lymphatic malformation 7 [RCV000415595]|not provided [RCV003128798] Chr7:100807483 [GRCh38]
Chr7:100405105 [GRCh37]
Chr7:7q22.1		 pathogenic|risk factor
NM_004444.5(EPHB4):c.2334+1G>C single nucleotide variant Lymphatic malformation 7 [RCV000735638] Chr7:100807364 [GRCh38]
Chr7:100404986 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.52+14del deletion not provided [RCV001712846] Chr7:100826965 [GRCh38]
Chr7:100424587 [GRCh37]
Chr7:7q22.1		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004444.5(EPHB4):c.41C>T (p.Ala14Val) single nucleotide variant Cardiovascular phenotype [RCV003297499] Chr7:100826990 [GRCh38]
Chr7:100424612 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2082G>A (p.Glu694=) single nucleotide variant Cardiovascular phenotype [RCV003297497] Chr7:100812783 [GRCh38]
Chr7:100410405 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.13G>T (p.Val5Leu) single nucleotide variant Cardiovascular phenotype [RCV004308949] Chr7:100827018 [GRCh38]
Chr7:100424640 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2916C>T (p.Ala972=) single nucleotide variant Cardiovascular phenotype [RCV003301676] Chr7:100803509 [GRCh38]
Chr7:100401131 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.291C>G (p.Cys97Trp) single nucleotide variant Cardiovascular phenotype [RCV003301678] Chr7:100823764 [GRCh38]
Chr7:100421386 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2451G>A (p.Gly817=) single nucleotide variant Cardiovascular phenotype [RCV003301675] Chr7:100806453 [GRCh38]
Chr7:100404075 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.666C>A (p.Ser222Arg) single nucleotide variant Cardiovascular phenotype [RCV003297493] Chr7:100822413 [GRCh38]
Chr7:100420035 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.937A>G (p.Thr313Ala) single nucleotide variant Cardiovascular phenotype [RCV003297500] Chr7:100820168 [GRCh38]
Chr7:100417790 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.602C>T (p.Thr201Ile) single nucleotide variant Cardiovascular phenotype [RCV003297502] Chr7:100822477 [GRCh38]
Chr7:100420099 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2522C>T (p.Pro841Leu) single nucleotide variant Cardiovascular phenotype [RCV004290759]|Lymphatic malformation 7 [RCV003458919] Chr7:100805657 [GRCh38]
Chr7:100403279 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.10C>T (p.Arg4Trp) single nucleotide variant Cardiovascular phenotype [RCV003297498] Chr7:100827021 [GRCh38]
Chr7:100424643 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000722057] Chr7:100806499 [GRCh38]
Chr7:100404121 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.2484+1G>T single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000722063] Chr7:100806419 [GRCh38]
Chr7:100404041 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000722059] Chr7:100822277 [GRCh38]
Chr7:100419899 [GRCh37]
Chr7:7q22.1		 pathogenic|uncertain significance
NM_004444.5(EPHB4):c.632_633del (p.Val211fs) microsatellite Capillary malformation-arteriovenous malformation 2 [RCV000722060] Chr7:100822446..100822447 [GRCh38]
Chr7:100420068..100420069 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2484+1G>A single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000722062]|not provided [RCV001811458] Chr7:100806419 [GRCh38]
Chr7:100404041 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.2484+2dup duplication Capillary malformation-arteriovenous malformation 2 [RCV000722064]|not provided [RCV004760757] Chr7:100806417..100806418 [GRCh38]
Chr7:100404039..100404040 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000722066]|EPHB4-related disorder [RCV004751678] Chr7:100823736 [GRCh38]
Chr7:100421358 [GRCh37]
Chr7:7q22.1		 pathogenic|uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1 copy number loss not provided [RCV000682904] Chr7:98847725..102472176 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.33del (p.Leu12fs) deletion Capillary malformation-arteriovenous malformation 2 [RCV000722058] Chr7:100826998 [GRCh38]
Chr7:100424620 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000722061]|EPHB4-related disorder [RCV004547917]|not provided [RCV004719973] Chr7:100812875 [GRCh38]
Chr7:100410497 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
NM_004444.5(EPHB4):c.570dup (p.His191fs) duplication Capillary malformation-arteriovenous malformation 2 [RCV000722065] Chr7:100822508..100822509 [GRCh38]
Chr7:100420130..100420131 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2949G>T (p.Pro983=) single nucleotide variant Cardiovascular phenotype [RCV002434389]|not provided [RCV001683717] Chr7:100803476 [GRCh38]
Chr7:100401098 [GRCh37]
Chr7:7q22.1		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1(chr7:100141861-100552714)x1 copy number loss not provided [RCV000746918] Chr7:100141861..100552714 [GRCh37]
Chr7:7q22.1		 likely benign
GRCh37/hg19 7q22.1(chr7:100367573-100457578)x3 copy number gain not provided [RCV000746928] Chr7:100367573..100457578 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1699_1700del (p.Ser567fs) microsatellite not provided [RCV001532592] Chr7:100813708..100813709 [GRCh38]
Chr7:100411330..100411331 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2356T>C (p.Trp786Arg) single nucleotide variant not provided [RCV001812391] Chr7:100806548 [GRCh38]
Chr7:100404170 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852306] Chr7:100823666 [GRCh38]
Chr7:100421288 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852314]|EPHB4-related disorder [RCV004731045]|not provided [RCV003558617] Chr7:100806485 [GRCh38]
Chr7:100404107 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004444.5(EPHB4):c.560T>C (p.Leu187Pro) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852316]|not provided [RCV003558618] Chr7:100822519 [GRCh38]
Chr7:100420141 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2458C>A (p.Pro820Thr) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852322] Chr7:100806446 [GRCh38]
Chr7:100404068 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1966C>T (p.Arg656Trp) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852324] Chr7:100812899 [GRCh38]
Chr7:100410521 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2609T>A (p.Val870Glu) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852328] Chr7:100805570 [GRCh38]
Chr7:100403192 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1588+104_1588+109del deletion not provided [RCV001679238] Chr7:100817083..100817088 [GRCh38]
Chr7:100414705..100414710 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2418C>G (p.Tyr806Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852305]|not provided [RCV000760551] Chr7:100806486 [GRCh38]
Chr7:100404108 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.1306G>T (p.Ala436Ser) single nucleotide variant Cardiovascular phenotype [RCV004319685] Chr7:100818636 [GRCh38]
Chr7:100416258 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1588+107_1588+109del deletion not provided [RCV001642084] Chr7:100817083..100817085 [GRCh38]
Chr7:100414705..100414707 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2484+180A>T single nucleotide variant not provided [RCV001609525] Chr7:100806240 [GRCh38]
Chr7:100403862 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile) single nucleotide variant Venous malformation [RCV001374593]|not provided [RCV000998866] Chr7:100818537 [GRCh38]
Chr7:100416159 [GRCh37]
Chr7:7q22.1		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_004444.5(EPHB4):c.2644G>A (p.Ala882Thr) single nucleotide variant Cardiovascular phenotype [RCV002454178]|not provided [RCV000947050] Chr7:100805535 [GRCh38]
Chr7:100403157 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1691+34dup duplication none provided [RCV001284862] Chr7:100813882..100813883 [GRCh38]
Chr7:100411504..100411505 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1112C>T (p.Ala371Val) single nucleotide variant EPHB4-related disorder [RCV003908390]|Lymphatic malformation 7 [RCV002495335]|not provided [RCV000879589] Chr7:100819742 [GRCh38]
Chr7:100417364 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.2658C>T (p.Ile886=) single nucleotide variant Cardiovascular phenotype [RCV002454057]|not provided [RCV000879745] Chr7:100805521 [GRCh38]
Chr7:100403143 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1743T>C (p.Tyr581=) single nucleotide variant Cardiovascular phenotype [RCV002400114]|Lymphatic malformation 7 [RCV002505436]|not provided [RCV000958951] Chr7:100813665 [GRCh38]
Chr7:100411287 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.691C>T (p.Pro231Ser) single nucleotide variant Cardiovascular phenotype [RCV003307660]|EPHB4-related disorder [RCV003930524]|not provided [RCV000880793] Chr7:100822388 [GRCh38]
Chr7:100420010 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.2670G>T (p.Glu890Asp) single nucleotide variant Cardiovascular phenotype [RCV002427387]|not provided [RCV000954112] Chr7:100805509 [GRCh38]
Chr7:100805509..100805510 [GRCh38]
Chr7:100403131 [GRCh37]
Chr7:100403131..100403132 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.965-6C>T single nucleotide variant not provided [RCV000894184] Chr7:100819895 [GRCh38]
Chr7:100417517 [GRCh37]
Chr7:7q22.1		 likely benign
GRCh37/hg19 7q22.1(chr7:100312504-100411701)x3 copy number gain not provided [RCV000847354] Chr7:100312504..100411701 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1890C>T (p.Cys630=) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV001664601]|Cardiovascular phenotype [RCV002409332]|Lymphatic malformation 7 [RCV001664600]|not provided [RCV001655662] Chr7:100812975 [GRCh38]
Chr7:100410597 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2450G>A (p.Gly817Glu) single nucleotide variant not specified [RCV001002133] Chr7:100806454 [GRCh38]
Chr7:100404076 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2365C>T (p.Pro789Ser) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852320] Chr7:100806539 [GRCh38]
Chr7:100404161 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852325]|not provided [RCV001092660] Chr7:100805667 [GRCh38]
Chr7:100403289 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852326]|not provided [RCV001869297]|not specified [RCV001002544] Chr7:100805589 [GRCh38]
Chr7:100403211 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004444.5(EPHB4):c.1406T>G (p.Val469Gly) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852327] Chr7:100818536 [GRCh38]
Chr7:100416158 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852309]|Lymphatic malformation 7 [RCV002062235]|Lymphatic malformation 7 [RCV003224479] Chr7:100805612 [GRCh38]
Chr7:100403234 [GRCh37]
Chr7:7q22.1		 likely pathogenic|uncertain significance
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852310]|not provided [RCV001562165] Chr7:100823880 [GRCh38]
Chr7:100421502 [GRCh37]
Chr7:7q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004444.5(EPHB4):c.2599T>C (p.Phe867Leu) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852311]|not provided [RCV003718303] Chr7:100805580 [GRCh38]
Chr7:100403202 [GRCh37]
Chr7:7q22.1		 likely pathogenic|uncertain significance
NM_004444.5(EPHB4):c.1123G>T (p.Gly375Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852312] Chr7:100819731 [GRCh38]
Chr7:100417353 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2893G>A (p.Val965Ile) single nucleotide variant Cardiovascular phenotype [RCV004313611] Chr7:100803532 [GRCh38]
Chr7:100401154 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1298-88C>G single nucleotide variant not provided [RCV001679392] Chr7:100818732 [GRCh38]
Chr7:100416354 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1298-66A>T single nucleotide variant not provided [RCV001534730] Chr7:100818710 [GRCh38]
Chr7:100416332 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1297+168G>T single nucleotide variant not provided [RCV001681308] Chr7:100819389 [GRCh38]
Chr7:100417011 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2835-196C>G single nucleotide variant not provided [RCV001685149] Chr7:100803786 [GRCh38]
Chr7:100401408 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1422+90T>C single nucleotide variant not provided [RCV001654278] Chr7:100818430 [GRCh38]
Chr7:100416052 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2835-58A>C single nucleotide variant not provided [RCV001657508] Chr7:100803648 [GRCh38]
Chr7:100401270 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1871-41T>C single nucleotide variant not provided [RCV001686010] Chr7:100813035 [GRCh38]
Chr7:100410657 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852307]|not provided [RCV002254320] Chr7:100807526 [GRCh38]
Chr7:100405148 [GRCh37]
Chr7:7q22.1		 likely pathogenic|uncertain significance
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852318]|not provided [RCV002254321] Chr7:100807466 [GRCh38]
Chr7:100405088 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852315] Chr7:100812915 [GRCh38]
Chr7:100410537 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.221G>C (p.Arg74Pro) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852323] Chr7:100823834 [GRCh38]
Chr7:100421456 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2860_2861del (p.Leu954fs) microsatellite Lymphatic malformation 7 [RCV000853289] Chr7:100803564..100803565 [GRCh38]
Chr7:100401186..100401187 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852308]|not specified [RCV001002591] Chr7:100805646 [GRCh38]
Chr7:100403268 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1546G>A (p.Gly516Arg) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852313]|not provided [RCV003546606] Chr7:100817234 [GRCh38]
Chr7:100414856 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852317]|not provided [RCV003238823] Chr7:100805558 [GRCh38]
Chr7:100403180 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2366C>G (p.Pro789Arg) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852319]|not provided [RCV003558619] Chr7:100806538 [GRCh38]
Chr7:100404160 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV000852321]|EPHB4-related disorder [RCV003396490]|not provided [RCV003558620] Chr7:100806445 [GRCh38]
Chr7:100404067 [GRCh37]
Chr7:7q22.1		 likely pathogenic|uncertain significance
NM_004444.5(EPHB4):c.687C>T (p.Pro229=) single nucleotide variant Cardiovascular phenotype [RCV002363433]|not provided [RCV000939261] Chr7:100822392 [GRCh38]
Chr7:100420014 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.1124dup (p.Asp376fs) duplication Capillary malformation-arteriovenous malformation 2 [RCV003155430]|not provided [RCV001781044] Chr7:100819729..100819730 [GRCh38]
Chr7:100417351..100417352 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2324C>T (p.Thr775Met) single nucleotide variant not provided [RCV000998865] Chr7:100807375 [GRCh38]
Chr7:100404997 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1757-121dup duplication not provided [RCV001636510] Chr7:100813306..100813307 [GRCh38]
Chr7:100410928..100410929 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.809-186dup duplication not provided [RCV001620072] Chr7:100820465..100820466 [GRCh38]
Chr7:100418087..100418088 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.123+44G>A single nucleotide variant not provided [RCV001656310] Chr7:100824159 [GRCh38]
Chr7:100421781 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1528C>T (p.Arg510Cys) single nucleotide variant Cardiovascular phenotype [RCV004308149] Chr7:100817252 [GRCh38]
Chr7:100414874 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1788T>A (p.Tyr596Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002470387] Chr7:100813177 [GRCh38]
Chr7:100410799 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1588+88dup duplication not provided [RCV001676918] Chr7:100817082..100817083 [GRCh38]
Chr7:100414704..100414705 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.-124G>C single nucleotide variant not provided [RCV001595196] Chr7:100827154 [GRCh38]
Chr7:100424776 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.411+165C>T single nucleotide variant not provided [RCV001636478] Chr7:100823479 [GRCh38]
Chr7:100421101 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2835-221T>C single nucleotide variant not provided [RCV001657609] Chr7:100803811 [GRCh38]
Chr7:100401433 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2835-237C>T single nucleotide variant not provided [RCV001635578] Chr7:100803827 [GRCh38]
Chr7:100401449 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.809-186_809-185dup duplication not provided [RCV001643273] Chr7:100820465..100820466 [GRCh38]
Chr7:100418087..100418088 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2484+178C>T single nucleotide variant not provided [RCV001596146] Chr7:100806242 [GRCh38]
Chr7:100403864 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1589-232C>T single nucleotide variant not provided [RCV001657077] Chr7:100814253 [GRCh38]
Chr7:100411875 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1588+27G>A single nucleotide variant not provided [RCV001641188] Chr7:100817165 [GRCh38]
Chr7:100414787 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.52+14_52+15del deletion not provided [RCV001673002] Chr7:100826964..100826965 [GRCh38]
Chr7:100424586..100424587 [GRCh37]
Chr7:7q22.1		 benign
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1 copy number loss See cases [RCV001195072] Chr7:99593346..102470275 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1423-173A>T single nucleotide variant not provided [RCV001616964] Chr7:100817530 [GRCh38]
Chr7:100415152 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.52+23dup duplication not provided [RCV001690217] Chr7:100826955..100826956 [GRCh38]
Chr7:100424577..100424578 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.*134GA[2] microsatellite not provided [RCV001695676] Chr7:100803322..100803323 [GRCh38]
Chr7:100400944..100400945 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1588+66A>C single nucleotide variant not provided [RCV001679051] Chr7:100817126 [GRCh38]
Chr7:100414748 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1692-34A>G single nucleotide variant not provided [RCV001708929] Chr7:100813750 [GRCh38]
Chr7:100411372 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1757-121_1757-120dup duplication not provided [RCV001666479] Chr7:100813306..100813307 [GRCh38]
Chr7:100410928..100410929 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.52+14C>G single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV001664603]|Lymphatic malformation 7 [RCV001664602]|not provided [RCV001644889] Chr7:100826965 [GRCh38]
Chr7:100424587 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.489G>A (p.Thr163=) single nucleotide variant Cardiovascular phenotype [RCV002337056]|not provided [RCV001709702] Chr7:100822590 [GRCh38]
Chr7:100420212 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2484+3A>T single nucleotide variant not specified [RCV001001164] Chr7:100806417 [GRCh38]
Chr7:100404039 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1314T>C (p.Ser438=) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV001664610]|Cardiovascular phenotype [RCV002382242]|Lymphatic malformation 7 [RCV001664609]|not provided [RCV001712847] Chr7:100818628 [GRCh38]
Chr7:100818628..100818629 [GRCh38]
Chr7:100416250 [GRCh37]
Chr7:100416250..100416251 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.546T>C (p.Gly182=) single nucleotide variant Cardiovascular phenotype [RCV002346208]|not provided [RCV001673001] Chr7:100822533 [GRCh38]
Chr7:100420155 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1422+3A>G single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV001664614]|Cardiovascular phenotype [RCV002391071]|Lymphatic malformation 7 [RCV001664613]|not provided [RCV001692346] Chr7:100818517 [GRCh38]
Chr7:100416139 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1330C>T (p.Arg444Trp) single nucleotide variant not provided [RCV003151826]|not specified [RCV001002303] Chr7:100818612 [GRCh38]
Chr7:100416234 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1400A>G (p.Tyr467Cys) single nucleotide variant not provided [RCV002511011]|not specified [RCV001001286] Chr7:100818542 [GRCh38]
Chr7:100416164 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.372G>A (p.Thr124=) single nucleotide variant not provided [RCV001200185] Chr7:100823683 [GRCh38]
Chr7:100421305 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg) single nucleotide variant Cardiovascular phenotype [RCV002391070]|not provided [RCV002550753]|not specified [RCV001001752] Chr7:100818558 [GRCh38]
Chr7:100416180 [GRCh37]
Chr7:7q22.1		 benign|likely benign|uncertain significance
NM_004444.5(EPHB4):c.1752A>G (p.Gly584=) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV001664612]|Cardiovascular phenotype [RCV002400179]|Lymphatic malformation 7 [RCV001664611]|not provided [RCV001683720] Chr7:100813656 [GRCh38]
Chr7:100411278 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.971C>A (p.Pro324His) single nucleotide variant Malignant neoplastic disease [RCV001254877] Chr7:100819883 [GRCh38]
Chr7:100417505 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV001261444] Chr7:100812763 [GRCh38]
Chr7:100410385 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1588+88_1588+89dup duplication not provided [RCV001540011] Chr7:100817082..100817083 [GRCh38]
Chr7:100414704..100414705 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.805C>T (p.Arg269Ter) single nucleotide variant not provided [RCV001812472] Chr7:100822274 [GRCh38]
Chr7:100419896 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.605_606del (p.Val202fs) microsatellite not provided [RCV001812942] Chr7:100822473..100822474 [GRCh38]
Chr7:100420095..100420096 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.96G>T (p.Trp32Cys) single nucleotide variant not provided [RCV001812981] Chr7:100824230 [GRCh38]
Chr7:100421852 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2369A>C (p.Glu790Ala) single nucleotide variant not provided [RCV001351587] Chr7:100806535 [GRCh38]
Chr7:100404157 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1549C>A (p.Pro517Thr) single nucleotide variant not provided [RCV001810656] Chr7:100817231 [GRCh38]
Chr7:100414853 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2732C>T (p.Ser911Phe) single nucleotide variant Cardiovascular phenotype [RCV004609280] Chr7:100805268 [GRCh38]
Chr7:100402890 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.420G>A (p.Thr140=) single nucleotide variant Cardiovascular phenotype [RCV003166616]|not provided [RCV001812282] Chr7:100822659 [GRCh38]
Chr7:100420281 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2834+17G>A single nucleotide variant not provided [RCV001810691] Chr7:100805149 [GRCh38]
Chr7:100402771 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.905G>C (p.Cys302Ser) single nucleotide variant not provided [RCV001310583] Chr7:100820200 [GRCh38]
Chr7:100417822 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1738C>T (p.Gln580Ter) single nucleotide variant not provided [RCV001781045] Chr7:100813670 [GRCh38]
Chr7:100411292 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1609C>T (p.Gln537Ter) single nucleotide variant EPHB4-related disorder [RCV003399210]|not provided [RCV001389438] Chr7:100814001 [GRCh38]
Chr7:100411623 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.1588+108_1588+109del deletion not provided [RCV001645466] Chr7:100817083..100817084 [GRCh38]
Chr7:100414705..100414706 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2485-113T>C single nucleotide variant not provided [RCV001686712] Chr7:100805807 [GRCh38]
Chr7:100403429 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser) single nucleotide variant Cardiovascular phenotype [RCV002414297]|EPHB4-related disorder [RCV004752038]|Lymphatic malformation 7 [RCV002488465]|not provided [RCV001699843] Chr7:100819787 [GRCh38]
Chr7:100417409 [GRCh37]
Chr7:7q22.1		 benign|likely benign|uncertain significance
NM_004444.5(EPHB4):c.124-112G>A single nucleotide variant not provided [RCV001655260] Chr7:100824043 [GRCh38]
Chr7:100421665 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1589-45A>G single nucleotide variant not provided [RCV001648205] Chr7:100814066 [GRCh38]
Chr7:100411688 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.337G>A (p.Val113Ile) single nucleotide variant Cardiovascular phenotype [RCV004039197]|not provided [RCV001528724] Chr7:100823718 [GRCh38]
Chr7:100421340 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser) single nucleotide variant Arteriovenous malformation [RCV001526877] Chr7:100805579 [GRCh38]
Chr7:100403201 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.839C>G (p.Ser280Ter) single nucleotide variant Lymphatic malformation 7 [RCV004782909]|not provided [RCV002254463] Chr7:100820266 [GRCh38]
Chr7:100417888 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.2420G>A (p.Gly807Glu) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002272690] Chr7:100806484 [GRCh38]
Chr7:100404106 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1692-8G>A single nucleotide variant not provided [RCV001771191] Chr7:100813724 [GRCh38]
Chr7:100411346 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.248_250dup (p.Ala83dup) duplication See cases [RCV002253084] Chr7:100823804..100823805 [GRCh38]
Chr7:100421426..100421427 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.121C>T (p.Gln41Ter) single nucleotide variant Capillary malformation-arteriovenous malformation syndrome [RCV002254420] Chr7:100824205 [GRCh38]
Chr7:100421827 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1300C>T (p.Pro434Ser) single nucleotide variant Cardiovascular phenotype [RCV002382484]|not provided [RCV002254457] Chr7:100818642 [GRCh38]
Chr7:100416264 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1692-6C>A single nucleotide variant not provided [RCV001772802] Chr7:100813722 [GRCh38]
Chr7:100411344 [GRCh37]
Chr7:7q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser) single nucleotide variant Cardiovascular phenotype [RCV002458575]|not provided [RCV001764879] Chr7:100819710 [GRCh38]
Chr7:100417332 [GRCh37]
Chr7:7q22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004444.5(EPHB4):c.2434G>A (p.Glu812Lys) single nucleotide variant not provided [RCV001773011] Chr7:100806470 [GRCh38]
Chr7:100404092 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2605dup (p.Gln869fs) duplication Capillary malformation-arteriovenous malformation 2 [RCV001788524] Chr7:100805573..100805574 [GRCh38]
Chr7:100403195..100403196 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2288G>A (p.Arg763Gln) single nucleotide variant not provided [RCV001751844] Chr7:100807411 [GRCh38]
Chr7:100405033 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1882G>C (p.Glu628Gln) single nucleotide variant not provided [RCV001768629] Chr7:100812983 [GRCh38]
Chr7:100410605 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2537C>G (p.Pro846Arg) single nucleotide variant not provided [RCV001771156] Chr7:100805642 [GRCh38]
Chr7:100403264 [GRCh37]
Chr7:7q22.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_004444.5(EPHB4):c.2665C>T (p.Arg889Trp) single nucleotide variant not provided [RCV001763103] Chr7:100805514 [GRCh38]
Chr7:100403136 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1017G>T (p.Leu339=) single nucleotide variant Cardiovascular phenotype [RCV002343863]|EPHB4-related disorder [RCV003948737]|not provided [RCV001811761] Chr7:100819837 [GRCh38]
Chr7:100417459 [GRCh37]
Chr7:7q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004444.5(EPHB4):c.965-18C>T single nucleotide variant not provided [RCV001811916] Chr7:100819907 [GRCh38]
Chr7:100417529 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.896C>G (p.Ser299Ter) single nucleotide variant not provided [RCV001781043] Chr7:100820209 [GRCh38]
Chr7:100417831 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.1588+5G>C single nucleotide variant not provided [RCV001756650] Chr7:100817187 [GRCh38]
Chr7:100414809 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter) single nucleotide variant Cardiovascular phenotype [RCV002405291]|EPHB4-related disorder [RCV003407786]|not provided [RCV001758191] Chr7:100819800 [GRCh38]
Chr7:100417422 [GRCh37]
Chr7:7q22.1		 pathogenic|uncertain significance
NM_004444.5(EPHB4):c.2393C>T (p.Thr798Ile) single nucleotide variant not provided [RCV001814670] Chr7:100806511 [GRCh38]
Chr7:100404133 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1848_1849delinsT (p.Lys616fs) indel not provided [RCV001811931] Chr7:100813116..100813117 [GRCh38]
Chr7:100410738..100410739 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2679-18C>T single nucleotide variant not provided [RCV001812514] Chr7:100805339 [GRCh38]
Chr7:100402961 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2102T>C (p.Leu701Pro) single nucleotide variant not provided [RCV001811744] Chr7:100812763 [GRCh38]
Chr7:100410385 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.29C>A (p.Ala10Asp) single nucleotide variant not provided [RCV001810822] Chr7:100827002 [GRCh38]
Chr7:100424624 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.246C>T (p.Gly82=) single nucleotide variant Cardiovascular phenotype [RCV002458616]|not provided [RCV001811934] Chr7:100823809 [GRCh38]
Chr7:100421431 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1861_1864dup (p.Gly622fs) duplication Capillary malformation-arteriovenous malformation 2 [RCV001823796] Chr7:100813100..100813101 [GRCh38]
Chr7:100410722..100410723 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2750G>A (p.Arg917Gln) single nucleotide variant not provided [RCV002025592] Chr7:100805250 [GRCh38]
Chr7:100402872 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2767A>G (p.Arg923Gly) single nucleotide variant Cardiovascular phenotype [RCV002441199]|not provided [RCV002004084] Chr7:100805233 [GRCh38]
Chr7:100402855 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.174C>A (p.Tyr58Ter) single nucleotide variant not provided [RCV001949669] Chr7:100823881 [GRCh38]
Chr7:100421503 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1039dup (p.Leu347fs) duplication Lymphatic malformation 7 [RCV004796684]|not provided [RCV001929284] Chr7:100819814..100819815 [GRCh38]
Chr7:100417436..100417437 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1		 pathogenic
NM_004444.5(EPHB4):c.1096C>A (p.Pro366Thr) single nucleotide variant not provided [RCV002045718] Chr7:100819758 [GRCh38]
Chr7:100417380 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1773C>T (p.Ile591=) single nucleotide variant Cardiovascular phenotype [RCV002398054]|not provided [RCV002003009] Chr7:100813192 [GRCh38]
Chr7:100410814 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2044G>A (p.Val682Met) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV001839304] Chr7:100812821 [GRCh38]
Chr7:100410443 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs) microsatellite Vein of Galen aneurysmal malformation [RCV001849631] Chr7:100819558..100819559 [GRCh38]
Chr7:100417180..100417181 [GRCh37]
Chr7:7q22.1		 association
NM_004444.5(EPHB4):c.2686C>T (p.His896Tyr) single nucleotide variant not provided [RCV002024347] Chr7:100805314 [GRCh38]
Chr7:100402936 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.235_236del (p.Pro79fs) deletion EPHB4-related disorder [RCV004731193]|not provided [RCV001892749] Chr7:100823819..100823820 [GRCh38]
Chr7:100421441..100421442 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) single nucleotide variant Lymphatic malformation 7 [RCV002275253]|Vein of Galen aneurysmal malformation [RCV001849632] Chr7:100817254 [GRCh38]
Chr7:100414876 [GRCh37]
Chr7:7q22.1		 association|uncertain significance
NC_000007.13:g.(?_100411521)_(100424652_?)del deletion not provided [RCV001946762] Chr7:100411521..100424652 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.200C>T (p.Pro67Leu) single nucleotide variant not provided [RCV002041685] Chr7:100823855 [GRCh38]
Chr7:100421477 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.935G>A (p.Arg312His) single nucleotide variant Cardiovascular phenotype [RCV003167064]|not provided [RCV001911565] Chr7:100820170 [GRCh38]
Chr7:100417792 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.236C>T (p.Pro79Leu) single nucleotide variant Cardiovascular phenotype [RCV002449508]|not provided [RCV001908019] Chr7:100823819 [GRCh38]
Chr7:100421441 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.190C>T (p.Gln64Ter) single nucleotide variant not provided [RCV001943846] Chr7:100823865 [GRCh38]
Chr7:100421487 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.693del (p.Gly232fs) deletion not provided [RCV001939437] Chr7:100822386 [GRCh38]
Chr7:100420008 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2287C>A (p.Arg763=) single nucleotide variant not provided [RCV002037009] Chr7:100807412 [GRCh38]
Chr7:100405034 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.551G>A (p.Cys184Tyr) single nucleotide variant not provided [RCV002000879] Chr7:100822528 [GRCh38]
Chr7:100420150 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2678+6G>A single nucleotide variant not provided [RCV001958113] Chr7:100805495 [GRCh38]
Chr7:100403117 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2462A>C (p.Tyr821Ser) single nucleotide variant not provided [RCV001943479] Chr7:100806442 [GRCh38]
Chr7:100404064 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2128G>A (p.Gly710Arg) single nucleotide variant not provided [RCV001996827] Chr7:100807571 [GRCh38]
Chr7:100405193 [GRCh37]
Chr7:7q22.1		 uncertain significance
NC_000007.13:g.(?_98983338)_(100860555_?)del deletion not provided [RCV001877526] Chr7:98983338..100860555 [GRCh37]
Chr7:7q22.1		 pathogenic|uncertain significance
NM_004444.5(EPHB4):c.40G>A (p.Ala14Thr) single nucleotide variant Cardiovascular phenotype [RCV002324357]|not provided [RCV001931518] Chr7:100826991 [GRCh38]
Chr7:100424613 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.1576A>G (p.Thr526Ala) single nucleotide variant Cardiovascular phenotype [RCV004616847]|not provided [RCV001922737] Chr7:100817204 [GRCh38]
Chr7:100414826 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.1373G>A (p.Arg458Gln) single nucleotide variant not provided [RCV001905017] Chr7:100818569 [GRCh38]
Chr7:100416191 [GRCh37]
Chr7:7q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004444.5(EPHB4):c.946dup (p.Arg316fs) duplication not provided [RCV002035340] Chr7:100820158..100820159 [GRCh38]
Chr7:100417780..100417781 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1291C>T (p.Arg431Ter) single nucleotide variant not provided [RCV001956460] Chr7:100819563 [GRCh38]
Chr7:100417185 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2930C>T (p.Pro977Leu) single nucleotide variant Cardiovascular phenotype [RCV004043948]|not provided [RCV001989993] Chr7:100803495 [GRCh38]
Chr7:100401117 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.1960_1964del (p.Thr654fs) deletion not provided [RCV001994467] Chr7:100812901..100812905 [GRCh38]
Chr7:100410523..100410527 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2791G>A (p.Ala931Thr) single nucleotide variant Cardiovascular phenotype [RCV002441110]|not provided [RCV001994954] Chr7:100805209 [GRCh38]
Chr7:100402831 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.582C>A (p.Tyr194Ter) single nucleotide variant not provided [RCV001972368] Chr7:100822497 [GRCh38]
Chr7:100420119 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2485-2A>T single nucleotide variant not provided [RCV001973570] Chr7:100805696 [GRCh38]
Chr7:100403318 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2704C>T (p.Arg902Trp) single nucleotide variant Cardiovascular phenotype [RCV002425378]|not provided [RCV002030275] Chr7:100805296 [GRCh38]
Chr7:100402918 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.918C>T (p.Val306=) single nucleotide variant Cardiovascular phenotype [RCV002372884]|not provided [RCV002085406] Chr7:100820187 [GRCh38]
Chr7:100417809 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.1593C>T (p.Ser531=) single nucleotide variant Cardiovascular phenotype [RCV002400351]|EPHB4-related disorder [RCV003923754]|not provided [RCV002124367] Chr7:100814017 [GRCh38]
Chr7:100411639 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.2484+12G>A single nucleotide variant not provided [RCV002149028] Chr7:100806408 [GRCh38]
Chr7:100404030 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1258G>A (p.Val420Ile) single nucleotide variant Cardiovascular phenotype [RCV004045774]|not provided [RCV002091019] Chr7:100819596 [GRCh38]
Chr7:100417218 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002225188]|Cardiovascular phenotype [RCV002443272]|not provided [RCV004729106] Chr7:100807412 [GRCh38]
Chr7:100405034 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.2164C>T (p.Arg722Trp) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002225199] Chr7:100807535 [GRCh38]
Chr7:100405157 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2677G>A (p.Gly893Arg) single nucleotide variant Cardiovascular phenotype [RCV004046300]|not provided [RCV002105898] Chr7:100805502 [GRCh38]
Chr7:100403124 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1153dup (p.Asp385fs) duplication Capillary malformation-arteriovenous malformation 2 [RCV002225213] Chr7:100819700..100819701 [GRCh38]
Chr7:100417322..100417323 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1079G>A (p.Arg360His) single nucleotide variant Cardiovascular phenotype [RCV002416433]|not provided [RCV002109826] Chr7:100819775 [GRCh38]
Chr7:100417397 [GRCh37]
Chr7:7q22.1		 benign|likely benign|uncertain significance
NM_004444.5(EPHB4):c.267G>A (p.Thr89=) single nucleotide variant Cardiovascular phenotype [RCV002427556]|not provided [RCV002186861] Chr7:100823788 [GRCh38]
Chr7:100421410 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1254G>C (p.Gly418=) single nucleotide variant Cardiovascular phenotype [RCV002416467]|not provided [RCV002094451] Chr7:100819600 [GRCh38]
Chr7:100417222 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1143C>T (p.Pro381=) single nucleotide variant Cardiovascular phenotype [RCV002454574]|not provided [RCV002191754] Chr7:100819711 [GRCh38]
Chr7:100417333 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.410A>T (p.Lys137Met) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002225224] Chr7:100823645 [GRCh38]
Chr7:100421267 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1423-15A>G single nucleotide variant not provided [RCV002132100] Chr7:100817372 [GRCh38]
Chr7:100414994 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002225192]|Lymphatic malformation 7 [RCV004796712]|not provided [RCV003089196] Chr7:100819761 [GRCh38]
Chr7:100417383 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.2955G>A (p.Pro985=) single nucleotide variant Cardiovascular phenotype [RCV002434469]|not provided [RCV002083651] Chr7:100803470 [GRCh38]
Chr7:100401092 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.682G>A (p.Val228Ile) single nucleotide variant Cardiovascular phenotype [RCV003161660]|not provided [RCV002175929] Chr7:100822397 [GRCh38]
Chr7:100420019 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2484+11C>T single nucleotide variant not provided [RCV002155470] Chr7:100806409 [GRCh38]
Chr7:100404031 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.1225T>C (p.Leu409=) single nucleotide variant Cardiovascular phenotype [RCV004617000]|not provided [RCV002162567] Chr7:100819629 [GRCh38]
Chr7:100417251 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV002254472] Chr7:100827030 [GRCh38]
Chr7:100424652 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.123+18del deletion not provided [RCV002144208] Chr7:100824185 [GRCh38]
Chr7:100421807 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.378C>T (p.Leu126=) single nucleotide variant Cardiovascular phenotype [RCV002346461]|not provided [RCV002155525] Chr7:100823677 [GRCh38]
Chr7:100421299 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.366G>A (p.Thr122=) single nucleotide variant Cardiovascular phenotype [RCV002454473]|not provided [RCV002137629] Chr7:100823689 [GRCh38]
Chr7:100421311 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.2837A>G (p.Asp946Gly) single nucleotide variant Cardiovascular phenotype [RCV003382836]|not provided [RCV002100379] Chr7:100803588 [GRCh38]
Chr7:100401210 [GRCh37]
Chr7:7q22.1		 likely benign|conflicting interpretations of pathogenicity
NM_004444.5(EPHB4):c.1419G>A (p.Glu473=) single nucleotide variant not provided [RCV002156515] Chr7:100818523 [GRCh38]
Chr7:100416145 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1527G>A (p.Ala509=) single nucleotide variant Cardiovascular phenotype [RCV002391206]|not provided [RCV002217584] Chr7:100817253 [GRCh38]
Chr7:100414875 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1589-6C>T single nucleotide variant not provided [RCV003110512] Chr7:100814027 [GRCh38]
Chr7:100411649 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.569T>G (p.Leu190Arg) single nucleotide variant not provided [RCV004777155] Chr7:100822510 [GRCh38]
Chr7:100420132 [GRCh37]
Chr7:7q22.1		 uncertain significance
NC_000007.13:g.(?_100410349)_(100424652_?)del deletion not provided [RCV003113483] Chr7:100410349..100424652 [GRCh37]
Chr7:7q22.1		 pathogenic
NC_000007.13:g.(?_98507659)_(100860555_?)dup duplication not provided [RCV003113282] Chr7:98507659..100860555 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.755G>A (p.Gly252Asp) single nucleotide variant not provided [RCV003120128] Chr7:100822324 [GRCh38]
Chr7:100419946 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.7C>A (p.Leu3Ile) single nucleotide variant not provided [RCV004793086] Chr7:100827024 [GRCh38]
Chr7:100424646 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.42A>G (p.Ala14=) single nucleotide variant Cardiovascular phenotype [RCV003297495] Chr7:100826989 [GRCh38]
Chr7:100424611 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1541G>A (p.Gly514Asp) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002254419] Chr7:100817239 [GRCh38]
Chr7:100414861 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2772C>A (p.Tyr924Ter) single nucleotide variant not provided [RCV002254487] Chr7:100805228 [GRCh38]
Chr7:100402850 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2635C>T (p.Arg879Trp) single nucleotide variant Cardiovascular phenotype [RCV003164319]|not provided [RCV002227350] Chr7:100805544 [GRCh38]
Chr7:100403166 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1269G>A (p.Glu423=) single nucleotide variant Cardiovascular phenotype [RCV003297501] Chr7:100819585 [GRCh38]
Chr7:100417207 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1362G>C (p.Trp454Cys) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002273068] Chr7:100818580 [GRCh38]
Chr7:100416202 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2841G>A (p.Leu947=) single nucleotide variant Cardiovascular phenotype [RCV002435257] Chr7:100803584 [GRCh38]
Chr7:100401206 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.624G>A (p.Pro208=) single nucleotide variant Cardiovascular phenotype [RCV002366666]|not provided [RCV003098178] Chr7:100822455 [GRCh38]
Chr7:100420077 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.2838C>A (p.Asp946Glu) single nucleotide variant Cardiovascular phenotype [RCV002435202] Chr7:100803587 [GRCh38]
Chr7:100401209 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1540G>A (p.Gly514Ser) single nucleotide variant not provided [RCV002275858] Chr7:100817240 [GRCh38]
Chr7:100414862 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2846G>A (p.Arg949Gln) single nucleotide variant Cardiovascular phenotype [RCV002435304] Chr7:100803579 [GRCh38]
Chr7:100401201 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu) single nucleotide variant Hereditary lymphedema type I [RCV002274298] Chr7:100812854 [GRCh38]
Chr7:100410476 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.954A>G (p.Ala318=) single nucleotide variant Cardiovascular phenotype [RCV002385166] Chr7:100820151 [GRCh38]
Chr7:100417773 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1254G>A (p.Gly418=) single nucleotide variant Cardiovascular phenotype [RCV002419082] Chr7:100819600 [GRCh38]
Chr7:100417222 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2850C>T (p.Ile950=) single nucleotide variant Cardiovascular phenotype [RCV002435360] Chr7:100803575 [GRCh38]
Chr7:100401197 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.73T>C (p.Leu25=) single nucleotide variant Cardiovascular phenotype [RCV002384881]|not provided [RCV003098566] Chr7:100824253 [GRCh38]
Chr7:100421875 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.1960A>T (p.Thr654Ser) single nucleotide variant See cases [RCV004584556] Chr7:100812905 [GRCh38]
Chr7:100410527 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.801G>A (p.Lys267=) single nucleotide variant Cardiovascular phenotype [RCV002419266] Chr7:100822278 [GRCh38]
Chr7:100419900 [GRCh37]
Chr7:7q22.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_004444.5(EPHB4):c.2829T>G (p.Ser943=) single nucleotide variant Cardiovascular phenotype [RCV002435072] Chr7:100805171 [GRCh38]
Chr7:100402793 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1119C>T (p.Cys373=) single nucleotide variant Cardiovascular phenotype [RCV002437633] Chr7:100819735 [GRCh38]
Chr7:100417357 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1321C>T (p.Arg441Trp) single nucleotide variant Cardiovascular phenotype [RCV002385699] Chr7:100818621 [GRCh38]
Chr7:100416243 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2043C>T (p.Gly681=) single nucleotide variant Cardiovascular phenotype [RCV002419968] Chr7:100812822 [GRCh38]
Chr7:100410444 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1190G>A (p.Arg397His) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002261471] Chr7:100819664 [GRCh38]
Chr7:100417286 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2689C>A (p.Pro897Thr) single nucleotide variant Cardiovascular phenotype [RCV002453171] Chr7:100805311 [GRCh38]
Chr7:100402933 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2689C>G (p.Pro897Ala) single nucleotide variant Cardiovascular phenotype [RCV002453172] Chr7:100805311 [GRCh38]
Chr7:100402933 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.975G>A (p.Ser325=) single nucleotide variant Cardiovascular phenotype [RCV002387117] Chr7:100819879 [GRCh38]
Chr7:100417501 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1962G>A (p.Thr654=) single nucleotide variant Cardiovascular phenotype [RCV002421777] Chr7:100812903 [GRCh38]
Chr7:100410525 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.201G>A (p.Pro67=) single nucleotide variant Cardiovascular phenotype [RCV002419554]|not provided [RCV003434487] Chr7:100823854 [GRCh38]
Chr7:100421476 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.285C>T (p.Leu95=) single nucleotide variant Cardiovascular phenotype [RCV002435459] Chr7:100823770 [GRCh38]
Chr7:100421392 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1328C>T (p.Thr443Met) single nucleotide variant Cardiovascular phenotype [RCV002385834] Chr7:100818614 [GRCh38]
Chr7:100416236 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2215C>T (p.Arg739Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002282773]|not provided [RCV003096336] Chr7:100807484 [GRCh38]
Chr7:100405106 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1329G>A (p.Thr443=) single nucleotide variant Cardiovascular phenotype [RCV002385868] Chr7:100818613 [GRCh38]
Chr7:100416235 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.357T>C (p.Asp119=) single nucleotide variant Cardiovascular phenotype [RCV002455081] Chr7:100823698 [GRCh38]
Chr7:100421320 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2643C>A (p.Pro881=) single nucleotide variant Cardiovascular phenotype [RCV002452998] Chr7:100805536 [GRCh38]
Chr7:100403158 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2666G>A (p.Arg889Gln) single nucleotide variant Cardiovascular phenotype [RCV002453140] Chr7:100805513 [GRCh38]
Chr7:100403135 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2032C>T (p.Arg678Cys) single nucleotide variant Cardiovascular phenotype [RCV002419805] Chr7:100812833 [GRCh38]
Chr7:100410455 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2035C>T (p.Leu679=) single nucleotide variant Cardiovascular phenotype [RCV002419839] Chr7:100812830 [GRCh38]
Chr7:100410452 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2698G>C (p.Asp900His) single nucleotide variant Cardiovascular phenotype [RCV002437375]|not provided [RCV003102118] Chr7:100805302 [GRCh38]
Chr7:100402924 [GRCh37]
Chr7:7q22.1		 benign|uncertain significance
NM_004444.5(EPHB4):c.675G>A (p.Val225=) single nucleotide variant Cardiovascular phenotype [RCV002369264] Chr7:100822404 [GRCh38]
Chr7:100420026 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.288G>A (p.Glu96=) single nucleotide variant Cardiovascular phenotype [RCV002437903] Chr7:100823767 [GRCh38]
Chr7:100421389 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.272G>A (p.Arg91His) single nucleotide variant Cardiovascular phenotype [RCV002437471]|not provided [RCV003102153] Chr7:100823783 [GRCh38]
Chr7:100421405 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.574C>A (p.Leu192Ile) single nucleotide variant Cardiovascular phenotype [RCV002349917] Chr7:100822505 [GRCh38]
Chr7:100420127 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.670G>T (p.Val224Leu) single nucleotide variant Cardiovascular phenotype [RCV002367205] Chr7:100822409 [GRCh38]
Chr7:100420031 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.194G>C (p.Arg65Pro) single nucleotide variant not provided [RCV002278894] Chr7:100823861 [GRCh38]
Chr7:100421483 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.28G>A (p.Ala10Thr) single nucleotide variant Cardiovascular phenotype [RCV002438052] Chr7:100827003 [GRCh38]
Chr7:100424625 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1319T>C (p.Ile440Thr) single nucleotide variant Cardiovascular phenotype [RCV002385637] Chr7:100818623 [GRCh38]
Chr7:100416245 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.329C>G (p.Thr110Ser) single nucleotide variant Cardiovascular phenotype [RCV002454669] Chr7:100823726 [GRCh38]
Chr7:100421348 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1257C>T (p.Pro419=) single nucleotide variant Cardiovascular phenotype [RCV002421269]|EPHB4-related disorder [RCV003961027] Chr7:100819597 [GRCh38]
Chr7:100417219 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.366G>T (p.Thr122=) single nucleotide variant Cardiovascular phenotype [RCV002452643] Chr7:100823689 [GRCh38]
Chr7:100421311 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2890A>G (p.Ser964Gly) single nucleotide variant Cardiovascular phenotype [RCV002437924] Chr7:100803535 [GRCh38]
Chr7:100401157 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1390G>A (p.Val464Met) single nucleotide variant Cardiovascular phenotype [RCV003301677]|EPHB4-related disorder [RCV003395745] Chr7:100818552 [GRCh38]
Chr7:100416174 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2064C>T (p.Pro688=) single nucleotide variant Cardiovascular phenotype [RCV003301679]|not provided [RCV003777183] Chr7:100812801 [GRCh38]
Chr7:100410423 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1529G>A (p.Arg510His) single nucleotide variant Cardiovascular phenotype [RCV003301680] Chr7:100817251 [GRCh38]
Chr7:100414873 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1341C>T (p.Pro447=) single nucleotide variant Cardiovascular phenotype [RCV003301681] Chr7:100818601 [GRCh38]
Chr7:100416223 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1799A>G (p.Asn600Ser) single nucleotide variant Cardiovascular phenotype [RCV003301682] Chr7:100813166 [GRCh38]
Chr7:100410788 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1041G>A (p.Leu347=) single nucleotide variant Cardiovascular phenotype [RCV003301683] Chr7:100819813 [GRCh38]
Chr7:100417435 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2022dup (p.Asn675fs) duplication not provided [RCV003156559] Chr7:100812842..100812843 [GRCh38]
Chr7:100410464..100410465 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2809G>C (p.Glu937Gln) single nucleotide variant See cases [RCV003128478] Chr7:100805191 [GRCh38]
Chr7:100402813 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.187G>C (p.Val63Leu) single nucleotide variant Cardiovascular phenotype [RCV002415284]|not provided [RCV003774541] Chr7:100823868 [GRCh38]
Chr7:100421490 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.459C>T (p.Ala153=) single nucleotide variant Cardiovascular phenotype [RCV002342331]|EPHB4-related disorder [RCV003943365] Chr7:100822620 [GRCh38]
Chr7:100420242 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.117C>T (p.Asp39=) single nucleotide variant Cardiovascular phenotype [RCV002342340]|not provided [RCV003775924] Chr7:100824209 [GRCh38]
Chr7:100421831 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2010G>A (p.Gln670=) single nucleotide variant Cardiovascular phenotype [RCV002417345] Chr7:100812855 [GRCh38]
Chr7:100410477 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2354G>A (p.Arg785Gln) single nucleotide variant EPHB4-related disorder [RCV004548304]|Lymphatic malformation 7 [RCV002470209] Chr7:100806550 [GRCh38]
Chr7:100404172 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.2114T>C (p.Leu705Pro) single nucleotide variant Cardiovascular phenotype [RCV002417535] Chr7:100812751 [GRCh38]
Chr7:100410373 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.964+3A>T single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002470540] Chr7:100820138 [GRCh38]
Chr7:100417760 [GRCh37]
Chr7:7q22.1		 likely pathogenic|uncertain significance
NM_004444.5(EPHB4):c.216G>A (p.Trp72Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002470548] Chr7:100823839 [GRCh38]
Chr7:100421461 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.853T>C (p.Cys285Arg) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV002471460] Chr7:100820252 [GRCh38]
Chr7:100417874 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1833T>C (p.Asp611=) single nucleotide variant Cardiovascular phenotype [RCV002412694] Chr7:100813132 [GRCh38]
Chr7:100410754 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1063C>T (p.Leu355Phe) single nucleotide variant Cardiovascular phenotype [RCV002412697] Chr7:100819791 [GRCh38]
Chr7:100417413 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2208C>T (p.Tyr736=) single nucleotide variant Cardiovascular phenotype [RCV002425814]|not provided [RCV003098714] Chr7:100807491 [GRCh38]
Chr7:100405113 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2119-1G>C single nucleotide variant Cardiovascular phenotype [RCV002417578] Chr7:100807581 [GRCh38]
Chr7:100405203 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1713A>G (p.Glu571=) single nucleotide variant Cardiovascular phenotype [RCV002398937] Chr7:100813695 [GRCh38]
Chr7:100411317 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2126A>T (p.Asp709Val) single nucleotide variant Cardiovascular phenotype [RCV002417699] Chr7:100807573 [GRCh38]
Chr7:100405195 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2127C>T (p.Asp709=) single nucleotide variant Cardiovascular phenotype [RCV002417710]|not provided [RCV003574958] Chr7:100807572 [GRCh38]
Chr7:100405194 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1077C>G (p.Leu359=) single nucleotide variant Cardiovascular phenotype [RCV002421888] Chr7:100819777 [GRCh38]
Chr7:100417399 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1539C>T (p.Ala513=) single nucleotide variant Cardiovascular phenotype [RCV002403096] Chr7:100817241 [GRCh38]
Chr7:100414863 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2310C>T (p.Ser770=) single nucleotide variant Cardiovascular phenotype [RCV002446435]|not provided [RCV003730212] Chr7:100807389 [GRCh38]
Chr7:100405011 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2515C>T (p.Leu839=) single nucleotide variant Cardiovascular phenotype [RCV002432983]|not provided [RCV003101915] Chr7:100805664 [GRCh38]
Chr7:100403286 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.1098C>T (p.Pro366=) single nucleotide variant Cardiovascular phenotype [RCV002459948]|not provided [RCV003698957] Chr7:100819756 [GRCh38]
Chr7:100417378 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.616C>T (p.Arg206Ter) single nucleotide variant Cardiovascular phenotype [RCV002353699] Chr7:100822463 [GRCh38]
Chr7:100420085 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1461G>A (p.Thr487=) single nucleotide variant Cardiovascular phenotype [RCV002396743] Chr7:100817319 [GRCh38]
Chr7:100414941 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.239G>A (p.Arg80Gln) single nucleotide variant Cardiovascular phenotype [RCV002450237] Chr7:100823816 [GRCh38]
Chr7:100421438 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.915C>T (p.Arg305=) single nucleotide variant Cardiovascular phenotype [RCV002378826] Chr7:100820190 [GRCh38]
Chr7:100417812 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1413C>T (p.Tyr471=) single nucleotide variant Cardiovascular phenotype [RCV002389558] Chr7:100818529 [GRCh38]
Chr7:100416151 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1437C>T (p.Pro479=) single nucleotide variant Cardiovascular phenotype [RCV002394290] Chr7:100817343 [GRCh38]
Chr7:100414965 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1440C>T (p.Ser480=) single nucleotide variant Cardiovascular phenotype [RCV002394353] Chr7:100817340 [GRCh38]
Chr7:100414962 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1448G>A (p.Arg483Gln) single nucleotide variant Cardiovascular phenotype [RCV002394496]|not provided [RCV003561008] Chr7:100817332 [GRCh38]
Chr7:100414954 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1358C>T (p.Ala453Val) single nucleotide variant Cardiovascular phenotype [RCV002383396] Chr7:100818584 [GRCh38]
Chr7:100416206 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2673T>C (p.Asn891=) single nucleotide variant Cardiovascular phenotype [RCV002428828] Chr7:100805506 [GRCh38]
Chr7:100403128 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1645G>A (p.Val549Met) single nucleotide variant Cardiovascular phenotype [RCV002394972] Chr7:100813965 [GRCh38]
Chr7:100411587 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2197G>A (p.Glu733Lys) single nucleotide variant Cardiovascular phenotype [RCV002425614] Chr7:100807502 [GRCh38]
Chr7:100405124 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.57C>A (p.Thr19=) single nucleotide variant Cardiovascular phenotype [RCV002359842] Chr7:100824269 [GRCh38]
Chr7:100421891 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2158A>G (p.Met720Val) single nucleotide variant Cardiovascular phenotype [RCV002432547] Chr7:100807541 [GRCh38]
Chr7:100405163 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1429G>A (p.Glu477Lys) single nucleotide variant Cardiovascular phenotype [RCV002392012]|not provided [RCV003883820] Chr7:100817351 [GRCh38]
Chr7:100414973 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1086G>C (p.Arg362=) single nucleotide variant Cardiovascular phenotype [RCV002425858]|not provided [RCV004706437] Chr7:100819768 [GRCh38]
Chr7:100417390 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2196C>T (p.Ala732=) single nucleotide variant Cardiovascular phenotype [RCV002425600] Chr7:100807503 [GRCh38]
Chr7:100405125 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2151C>T (p.Leu717=) single nucleotide variant Cardiovascular phenotype [RCV002432480] Chr7:100807548 [GRCh38]
Chr7:100405170 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1483C>T (p.Arg495Trp) single nucleotide variant Cardiovascular phenotype [RCV002397198] Chr7:100817297 [GRCh38]
Chr7:100414919 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.771G>A (p.Pro257=) single nucleotide variant Cardiovascular phenotype [RCV002400679] Chr7:100822308 [GRCh38]
Chr7:100419930 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.13G>A (p.Val5Met) single nucleotide variant Cardiovascular phenotype [RCV002389243]|not provided [RCV003546820] Chr7:100827018 [GRCh38]
Chr7:100424640 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.750C>A (p.Val250=) single nucleotide variant Cardiovascular phenotype [RCV002393744] Chr7:100822329 [GRCh38]
Chr7:100419951 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1603C>T (p.Arg535Trp) single nucleotide variant Cardiovascular phenotype [RCV002398737]|not provided [RCV003491105] Chr7:100814007 [GRCh38]
Chr7:100411629 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1967G>A (p.Arg656Gln) single nucleotide variant Cardiovascular phenotype [RCV002423417] Chr7:100812898 [GRCh38]
Chr7:100410520 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.468C>T (p.Thr156=) single nucleotide variant Cardiovascular phenotype [RCV002335241] Chr7:100822611 [GRCh38]
Chr7:100420233 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1378C>T (p.Pro460Ser) single nucleotide variant Cardiovascular phenotype [RCV002381097] Chr7:100818564 [GRCh38]
Chr7:100416186 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2923G>A (p.Gly975Arg) single nucleotide variant Cardiovascular phenotype [RCV002439986] Chr7:100803502 [GRCh38]
Chr7:100401124 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1224A>C (p.Ala408=) single nucleotide variant Cardiovascular phenotype [RCV002361978] Chr7:100819630 [GRCh38]
Chr7:100417252 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.650T>A (p.Val217Glu) single nucleotide variant Cardiovascular phenotype [RCV002364174]|not provided [RCV004793789] Chr7:100822429 [GRCh38]
Chr7:100420051 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.351G>C (p.Glu117Asp) single nucleotide variant Cardiovascular phenotype [RCV002459310] Chr7:100823704 [GRCh38]
Chr7:100421326 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.354C>T (p.Ser118=) single nucleotide variant Cardiovascular phenotype [RCV002339732] Chr7:100823701 [GRCh38]
Chr7:100421323 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2367G>A (p.Pro789=) single nucleotide variant Cardiovascular phenotype [RCV002457739] Chr7:100806537 [GRCh38]
Chr7:100404159 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2616C>T (p.Ser872=) single nucleotide variant Cardiovascular phenotype [RCV002426361]|not provided [RCV003730223] Chr7:100805563 [GRCh38]
Chr7:100403185 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2523G>A (p.Pro841=) single nucleotide variant Cardiovascular phenotype [RCV002433074] Chr7:100805656 [GRCh38]
Chr7:100403278 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1770C>T (p.Tyr590=) single nucleotide variant Cardiovascular phenotype [RCV002407660] Chr7:100813195 [GRCh38]
Chr7:100410817 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.93G>A (p.Lys31=) single nucleotide variant Cardiovascular phenotype [RCV002373926] Chr7:100824233 [GRCh38]
Chr7:100421855 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2350A>G (p.Ile784Val) single nucleotide variant Cardiovascular phenotype [RCV002448395]|not provided [RCV003146563] Chr7:100806554 [GRCh38]
Chr7:100404176 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.943C>A (p.Pro315Thr) single nucleotide variant Cardiovascular phenotype [RCV002443437] Chr7:100820162 [GRCh38]
Chr7:100417784 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1625C>T (p.Ala542Val) single nucleotide variant Cardiovascular phenotype [RCV002401138]|not provided [RCV003774417] Chr7:100813985 [GRCh38]
Chr7:100411607 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.336C>T (p.Thr112=) single nucleotide variant Cardiovascular phenotype [RCV002451718]|not provided [RCV003738185] Chr7:100823719 [GRCh38]
Chr7:100421341 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1357G>A (p.Ala453Thr) single nucleotide variant Cardiovascular phenotype [RCV002383386] Chr7:100818585 [GRCh38]
Chr7:100416207 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.777C>T (p.Phe259=) single nucleotide variant Cardiovascular phenotype [RCV002409805] Chr7:100822302 [GRCh38]
Chr7:100419924 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2948C>T (p.Pro983Leu) single nucleotide variant Cardiovascular phenotype [RCV002440241]|EPHB4-related disorder [RCV003403835] Chr7:100803477 [GRCh38]
Chr7:100401099 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.271C>T (p.Arg91Cys) single nucleotide variant Cardiovascular phenotype [RCV002431264] Chr7:100823784 [GRCh38]
Chr7:100421406 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1892G>A (p.Arg631Gln) single nucleotide variant Cardiovascular phenotype [RCV002408051] Chr7:100812973 [GRCh38]
Chr7:100410595 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2397C>T (p.Ser799=) single nucleotide variant Cardiovascular phenotype [RCV002459620] Chr7:100806507 [GRCh38]
Chr7:100404129 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2397del (p.Ala800fs) deletion Cardiovascular phenotype [RCV002459621] Chr7:100806507 [GRCh38]
Chr7:100404129 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.317C>T (p.Ser106Phe) single nucleotide variant Cardiovascular phenotype [RCV002322719] Chr7:100823738 [GRCh38]
Chr7:100421360 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.838T>C (p.Ser280Pro) single nucleotide variant Cardiovascular phenotype [RCV002434850] Chr7:100820267 [GRCh38]
Chr7:100417889 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1976G>A (p.Arg659His) single nucleotide variant Cardiovascular phenotype [RCV002423589] Chr7:100812889 [GRCh38]
Chr7:100410511 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2931G>A (p.Pro977=) single nucleotide variant Cardiovascular phenotype [RCV002440076]|not provided [RCV003698962] Chr7:100803494 [GRCh38]
Chr7:100401116 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.747G>A (p.Pro249=) single nucleotide variant Cardiovascular phenotype [RCV002391504] Chr7:100822332 [GRCh38]
Chr7:100419954 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.419C>T (p.Thr140Met) single nucleotide variant Cardiovascular phenotype [RCV002327828]|not provided [RCV003094580] Chr7:100822660 [GRCh38]
Chr7:100420282 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.1897C>A (p.Arg633=) single nucleotide variant Cardiovascular phenotype [RCV002408134] Chr7:100812968 [GRCh38]
Chr7:100410590 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.681C>T (p.Ala227=) single nucleotide variant Cardiovascular phenotype [RCV002369582] Chr7:100822398 [GRCh38]
Chr7:100420020 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.592G>A (p.Ala198Thr) single nucleotide variant Cardiovascular phenotype [RCV002355857] Chr7:100822487 [GRCh38]
Chr7:100420109 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2457G>A (p.Arg819=) single nucleotide variant Cardiovascular phenotype [RCV002430712] Chr7:100806447 [GRCh38]
Chr7:100404069 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2055C>T (p.Asn685=) single nucleotide variant Cardiovascular phenotype [RCV002421870] Chr7:100812810 [GRCh38]
Chr7:100410432 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.314G>A (p.Arg105His) single nucleotide variant Cardiovascular phenotype [RCV002320806] Chr7:100823741 [GRCh38]
Chr7:100421363 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.453T>C (p.Pro151=) single nucleotide variant Cardiovascular phenotype [RCV002340102] Chr7:100822626 [GRCh38]
Chr7:100420248 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.333C>T (p.Phe111=) single nucleotide variant Cardiovascular phenotype [RCV002326566] Chr7:100823722 [GRCh38]
Chr7:100421344 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV003458865]|Cardiovascular phenotype [RCV002455658]|Lymphatic malformation 7 [RCV003224634] Chr7:100823805 [GRCh38]
Chr7:100421427 [GRCh37]
Chr7:7q22.1		 benign|uncertain significance
NM_004444.5(EPHB4):c.2373C>T (p.Ala791=) single nucleotide variant Cardiovascular phenotype [RCV002457794] Chr7:100806531 [GRCh38]
Chr7:100404153 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1639G>A (p.Val547Met) single nucleotide variant Cardiovascular phenotype [RCV002403512] Chr7:100813971 [GRCh38]
Chr7:100411593 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.655G>A (p.Val219Met) single nucleotide variant Cardiovascular phenotype [RCV002364401] Chr7:100822424 [GRCh38]
Chr7:100420046 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1416T>C (p.His472=) single nucleotide variant Cardiovascular phenotype [RCV002391709] Chr7:100818526 [GRCh38]
Chr7:100416148 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2418C>T (p.Tyr806=) single nucleotide variant Cardiovascular phenotype [RCV002450377] Chr7:100806486 [GRCh38]
Chr7:100404108 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1151G>A (p.Arg384Gln) single nucleotide variant Cardiovascular phenotype [RCV002353032]|not provided [RCV003728091] Chr7:100819703 [GRCh38]
Chr7:100417325 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.2790C>T (p.Ala930=) single nucleotide variant Cardiovascular phenotype [RCV002441416]|not provided [RCV003775373] Chr7:100805210 [GRCh38]
Chr7:100402832 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.31T>A (p.Ser11Thr) single nucleotide variant Cardiovascular phenotype [RCV002322965] Chr7:100827000 [GRCh38]
Chr7:100424622 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.274T>G (p.Phe92Val) single nucleotide variant Cardiovascular phenotype [RCV002439365] Chr7:100823781 [GRCh38]
Chr7:100421403 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1263A>G (p.Pro421=) single nucleotide variant Cardiovascular phenotype [RCV002447617] Chr7:100819591 [GRCh38]
Chr7:100417213 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2159T>C (p.Met720Thr) single nucleotide variant Cardiovascular phenotype [RCV002432558] Chr7:100807540 [GRCh38]
Chr7:100405162 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1236_1237insGCCTCCTTAGCCACGGGGCA (p.Ser413fs) insertion Cardiovascular phenotype [RCV002364886] Chr7:100819617..100819618 [GRCh38]
Chr7:100417239..100417240 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2460G>A (p.Pro820=) single nucleotide variant Cardiovascular phenotype [RCV002450570] Chr7:100806444 [GRCh38]
Chr7:100404066 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2252A>T (p.Asn751Ile) single nucleotide variant Cardiovascular phenotype [RCV002443563] Chr7:100807447 [GRCh38]
Chr7:100405069 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.504G>A (p.Pro168=) single nucleotide variant Cardiovascular phenotype [RCV002335723] Chr7:100822575 [GRCh38]
Chr7:100420197 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.738C>T (p.Ala246=) single nucleotide variant Cardiovascular phenotype [RCV002380441]|not provided [RCV003730134] Chr7:100822341 [GRCh38]
Chr7:100419963 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.488C>T (p.Thr163Met) single nucleotide variant Cardiovascular phenotype [RCV002340535] Chr7:100822591 [GRCh38]
Chr7:100420213 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1905G>T (p.Lys635Asn) single nucleotide variant Cardiovascular phenotype [RCV002408334] Chr7:100812960 [GRCh38]
Chr7:100410582 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.753G>A (p.Thr251=) single nucleotide variant Cardiovascular phenotype [RCV002393933]|EPHB4-related disorder [RCV003916462] Chr7:100822326 [GRCh38]
Chr7:100419948 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1020C>G (p.His340Gln) single nucleotide variant Cardiovascular phenotype [RCV002382566] Chr7:100819834 [GRCh38]
Chr7:100417456 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.591C>T (p.Cys197=) single nucleotide variant Cardiovascular phenotype [RCV002355793] Chr7:100822488 [GRCh38]
Chr7:100420110 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2257G>A (p.Val753Ile) single nucleotide variant Cardiovascular phenotype [RCV002443648]|not provided [RCV003775158] Chr7:100807442 [GRCh38]
Chr7:100405064 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.323A>G (p.Lys108Arg) single nucleotide variant Cardiovascular phenotype [RCV002445586]|EPHB4-related disorder [RCV004750725] Chr7:100823732 [GRCh38]
Chr7:100421354 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.2448T>G (p.Phe816Leu) single nucleotide variant Cardiovascular phenotype [RCV002430682] Chr7:100806456 [GRCh38]
Chr7:100404078 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.660C>T (p.Ala220=) single nucleotide variant Cardiovascular phenotype [RCV002364583] Chr7:100822419 [GRCh38]
Chr7:100420041 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.426C>T (p.Ala142=) single nucleotide variant Cardiovascular phenotype [RCV002330010] Chr7:100822653 [GRCh38]
Chr7:100420275 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1071C>T (p.Tyr357=) single nucleotide variant Cardiovascular phenotype [RCV002423420] Chr7:100819783 [GRCh38]
Chr7:100417405 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1428C>T (p.Ala476=) single nucleotide variant Cardiovascular phenotype [RCV002391977]|not provided [RCV003103687] Chr7:100817352 [GRCh38]
Chr7:100414974 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2922G>A (p.Pro974=) single nucleotide variant Cardiovascular phenotype [RCV002439977] Chr7:100803503 [GRCh38]
Chr7:100401125 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1189C>T (p.Arg397Cys) single nucleotide variant Cardiovascular phenotype [RCV002342687] Chr7:100819665 [GRCh38]
Chr7:100417287 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2268G>A (p.Val756=) single nucleotide variant Cardiovascular phenotype [RCV002443831]|EPHB4-related disorder [RCV004750743] Chr7:100807431 [GRCh38]
Chr7:100405053 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1734C>T (p.His578=) single nucleotide variant Cardiovascular phenotype [RCV002399223] Chr7:100813674 [GRCh38]
Chr7:100411296 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1039C>T (p.Leu347=) single nucleotide variant Cardiovascular phenotype [RCV002397069] Chr7:100819815 [GRCh38]
Chr7:100417437 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1176G>A (p.Val392=) single nucleotide variant Cardiovascular phenotype [RCV002328481] Chr7:100819678 [GRCh38]
Chr7:100417300 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.916G>A (p.Val306Ile) single nucleotide variant Cardiovascular phenotype [RCV002378862] Chr7:100820189 [GRCh38]
Chr7:100417811 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2487G>T (p.Val829=) single nucleotide variant Cardiovascular phenotype [RCV002430872] Chr7:100805692 [GRCh38]
Chr7:100403314 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1474G>A (p.Ala492Thr) single nucleotide variant Cardiovascular phenotype [RCV002397015] Chr7:100817306 [GRCh38]
Chr7:100414928 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2220C>T (p.Asp740=) single nucleotide variant Cardiovascular phenotype [RCV002428073]|EPHB4-related disorder [RCV003961042] Chr7:100807479 [GRCh38]
Chr7:100405101 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.638G>A (p.Arg213Gln) single nucleotide variant Cardiovascular phenotype [RCV002354099] Chr7:100822441 [GRCh38]
Chr7:100420063 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2948C>G (p.Pro983Arg) single nucleotide variant Cardiovascular phenotype [RCV002440239] Chr7:100803477 [GRCh38]
Chr7:100401099 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2949G>A (p.Pro983=) single nucleotide variant Cardiovascular phenotype [RCV002440254] Chr7:100803476 [GRCh38]
Chr7:100401098 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1632G>A (p.Thr544=) single nucleotide variant Cardiovascular phenotype [RCV002401318] Chr7:100813978 [GRCh38]
Chr7:100411600 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1021C>T (p.Leu341=) single nucleotide variant Cardiovascular phenotype [RCV002412175] Chr7:100819833 [GRCh38]
Chr7:100417455 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1251G>A (p.Thr417=) single nucleotide variant Cardiovascular phenotype [RCV002412181]|not provided [RCV003560985] Chr7:100819603 [GRCh38]
Chr7:100417225 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.209C>T (p.Ala70Val) single nucleotide variant Cardiovascular phenotype [RCV002424170] Chr7:100823846 [GRCh38]
Chr7:100421468 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1484G>A (p.Arg495Gln) single nucleotide variant Cardiovascular phenotype [RCV002397212] Chr7:100817296 [GRCh38]
Chr7:100414918 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.901G>A (p.Val301Ile) single nucleotide variant Cardiovascular phenotype [RCV002376424] Chr7:100820204 [GRCh38]
Chr7:100417826 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2094C>T (p.Asn698=) single nucleotide variant Cardiovascular phenotype [RCV002424084] Chr7:100812771 [GRCh38]
Chr7:100410393 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2349C>G (p.Pro783=) single nucleotide variant Cardiovascular phenotype [RCV002448355] Chr7:100806555 [GRCh38]
Chr7:100404177 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.381G>A (p.Thr127=) single nucleotide variant Cardiovascular phenotype [RCV002355324]|EPHB4-related disorder [RCV003961001] Chr7:100823674 [GRCh38]
Chr7:100421296 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.384A>G (p.Pro128=) single nucleotide variant Cardiovascular phenotype [RCV002355466] Chr7:100823671 [GRCh38]
Chr7:100421293 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2802C>T (p.Gly934=) single nucleotide variant Cardiovascular phenotype [RCV002441606] Chr7:100805198 [GRCh38]
Chr7:100402820 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2808C>T (p.Phe936=) single nucleotide variant Cardiovascular phenotype [RCV002441660]|not provided [RCV003108113] Chr7:100805192 [GRCh38]
Chr7:100402814 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.160A>G (p.Ser54Gly) single nucleotide variant Cardiovascular phenotype [RCV002394809] Chr7:100823895 [GRCh38]
Chr7:100421517 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2784C>T (p.Phe928=) single nucleotide variant Cardiovascular phenotype [RCV002441344]|not provided [RCV003561042] Chr7:100805216 [GRCh38]
Chr7:100402838 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.693T>C (p.Pro231=) single nucleotide variant Cardiovascular phenotype [RCV002362429] Chr7:100822386 [GRCh38]
Chr7:100420008 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1870+5G>C single nucleotide variant Cardiovascular phenotype [RCV002415094]|not provided [RCV003100901] Chr7:100813090 [GRCh38]
Chr7:100410712 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2954C>T (p.Pro985Leu) single nucleotide variant Cardiovascular phenotype [RCV002441906] Chr7:100803471 [GRCh38]
Chr7:100401093 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1631C>T (p.Thr544Met) single nucleotide variant Cardiovascular phenotype [RCV002401296]|not provided [RCV003883823] Chr7:100813979 [GRCh38]
Chr7:100411601 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.58C>T (p.Leu20=) single nucleotide variant Cardiovascular phenotype [RCV002355687] Chr7:100824268 [GRCh38]
Chr7:100421890 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.570G>A (p.Leu190=) single nucleotide variant Cardiovascular phenotype [RCV002347617] Chr7:100822509 [GRCh38]
Chr7:100420131 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.141C>G (p.Gly47=) single nucleotide variant Cardiovascular phenotype [RCV002391778] Chr7:100823914 [GRCh38]
Chr7:100421536 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.442C>T (p.Arg148Trp) single nucleotide variant Cardiovascular phenotype [RCV002333955]|not provided [RCV004793774] Chr7:100822637 [GRCh38]
Chr7:100420259 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1596G>A (p.Glu532=) single nucleotide variant Cardiovascular phenotype [RCV002398531] Chr7:100814014 [GRCh38]
Chr7:100411636 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.18G>C (p.Leu6=) single nucleotide variant Cardiovascular phenotype [RCV002408237] Chr7:100827013 [GRCh38]
Chr7:100424635 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.34T>C (p.Leu12=) single nucleotide variant Cardiovascular phenotype [RCV002337536] Chr7:100826997 [GRCh38]
Chr7:100424619 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1830C>T (p.Ile610=) single nucleotide variant Cardiovascular phenotype [RCV002412626] Chr7:100813135 [GRCh38]
Chr7:100410757 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1296G>T (p.Glu432Asp) single nucleotide variant Cardiovascular phenotype [RCV002380666] Chr7:100819558 [GRCh38]
Chr7:100417180 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.558C>T (p.Ala186=) single nucleotide variant Cardiovascular phenotype [RCV002344802] Chr7:100822521 [GRCh38]
Chr7:100420143 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1425C>T (p.Gly475=) single nucleotide variant Cardiovascular phenotype [RCV002391915] Chr7:100817355 [GRCh38]
Chr7:100414977 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.351G>A (p.Glu117=) single nucleotide variant Cardiovascular phenotype [RCV002459308] Chr7:100823704 [GRCh38]
Chr7:100421326 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1575G>A (p.Gln525=) single nucleotide variant Cardiovascular phenotype [RCV002405706] Chr7:100817205 [GRCh38]
Chr7:100414827 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1428C>A (p.Ala476=) single nucleotide variant Cardiovascular phenotype [RCV002391973] Chr7:100817352 [GRCh38]
Chr7:100414974 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2709G>A (p.Gln903=) single nucleotide variant Cardiovascular phenotype [RCV002429063] Chr7:100805291 [GRCh38]
Chr7:100402913 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2277T>C (p.Phe759=) single nucleotide variant Cardiovascular phenotype [RCV002446028]|EPHB4-related disorder [RCV003961043]|not provided [RCV003098770] Chr7:100807422 [GRCh38]
Chr7:100405044 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.11G>A (p.Arg4Gln) single nucleotide variant Cardiovascular phenotype [RCV002347092] Chr7:100827020 [GRCh38]
Chr7:100424642 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2303A>G (p.Asn768Ser) single nucleotide variant Cardiovascular phenotype [RCV002446353] Chr7:100807396 [GRCh38]
Chr7:100405018 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.150G>A (p.Glu50=) single nucleotide variant Cardiovascular phenotype [RCV002392171] Chr7:100823905 [GRCh38]
Chr7:100421527 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1277A>G (p.Asn426Ser) single nucleotide variant Cardiovascular phenotype [RCV002373879] Chr7:100819577 [GRCh38]
Chr7:100417199 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.469G>A (p.Gly157Arg) single nucleotide variant Cardiovascular phenotype [RCV002330576]|not provided [RCV003775948] Chr7:100822610 [GRCh38]
Chr7:100420232 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1230C>T (p.Asn410=) single nucleotide variant Cardiovascular phenotype [RCV002369384] Chr7:100819624 [GRCh38]
Chr7:100417246 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.360G>A (p.Ala120=) single nucleotide variant Cardiovascular phenotype [RCV002455321]|not provided [RCV003546767] Chr7:100823695 [GRCh38]
Chr7:100421317 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1545C>T (p.Tyr515=) single nucleotide variant Cardiovascular phenotype [RCV002403243] Chr7:100817235 [GRCh38]
Chr7:100414857 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1344C>T (p.Ser448=) single nucleotide variant Cardiovascular phenotype [RCV002387771] Chr7:100818598 [GRCh38]
Chr7:100416220 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2280C>T (p.Gly760=) single nucleotide variant Cardiovascular phenotype [RCV002446083] Chr7:100807419 [GRCh38]
Chr7:100405041 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1710A>G (p.Arg570=) single nucleotide variant Cardiovascular phenotype [RCV002398884] Chr7:100813698 [GRCh38]
Chr7:100411320 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1533T>C (p.Ser511=) single nucleotide variant Cardiovascular phenotype [RCV002392574] Chr7:100817247 [GRCh38]
Chr7:100414869 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1520T>G (p.Val507Gly) single nucleotide variant Cardiovascular phenotype [RCV002392425] Chr7:100817260 [GRCh38]
Chr7:100414882 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.449G>A (p.Arg150His) single nucleotide variant Cardiovascular phenotype [RCV002328671] Chr7:100822630 [GRCh38]
Chr7:100420252 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1139A>G (p.Asp380Gly) single nucleotide variant Cardiovascular phenotype [RCV002321011] Chr7:100819715 [GRCh38]
Chr7:100417337 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.163G>A (p.Val55Met) single nucleotide variant Cardiovascular phenotype [RCV002403532] Chr7:100823892 [GRCh38]
Chr7:100421514 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2079A>G (p.Thr693=) single nucleotide variant Cardiovascular phenotype [RCV002422249] Chr7:100812786 [GRCh38]
Chr7:100410408 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.255C>T (p.His85=) single nucleotide variant Cardiovascular phenotype [RCV002455850] Chr7:100823800 [GRCh38]
Chr7:100421422 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1084C>T (p.Arg362Trp) single nucleotide variant Cardiovascular phenotype [RCV002432896] Chr7:100819770 [GRCh38]
Chr7:100417392 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1096C>G (p.Pro366Ala) single nucleotide variant Cardiovascular phenotype [RCV002430663] Chr7:100819758 [GRCh38]
Chr7:100417380 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1038C>G (p.Pro346=) single nucleotide variant Cardiovascular phenotype [RCV002396704] Chr7:100819816 [GRCh38]
Chr7:100417438 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1379C>T (p.Pro460Leu) single nucleotide variant Cardiovascular phenotype [RCV002381111] Chr7:100818563 [GRCh38]
Chr7:100416185 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.998G>A (p.Arg333His) single nucleotide variant Cardiovascular phenotype [RCV002383040]|not provided [RCV003094912] Chr7:100819856 [GRCh38]
Chr7:100417478 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.848G>A (p.Gly283Glu) single nucleotide variant Cardiovascular phenotype [RCV002414386] Chr7:100820257 [GRCh38]
Chr7:100417879 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1401C>T (p.Tyr467=) single nucleotide variant Cardiovascular phenotype [RCV002389287] Chr7:100818541 [GRCh38]
Chr7:100416163 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1655T>G (p.Val552Gly) single nucleotide variant Cardiovascular phenotype [RCV002403725] Chr7:100813955 [GRCh38]
Chr7:100411577 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2910C>T (p.Ser970=) single nucleotide variant Cardiovascular phenotype [RCV002439828] Chr7:100803515 [GRCh38]
Chr7:100401137 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2772C>T (p.Tyr924=) single nucleotide variant Cardiovascular phenotype [RCV002439632] Chr7:100805228 [GRCh38]
Chr7:100402850 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2256C>T (p.Leu752=) single nucleotide variant Cardiovascular phenotype [RCV002443639] Chr7:100807443 [GRCh38]
Chr7:100405065 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.225A>G (p.Thr75=) single nucleotide variant Cardiovascular phenotype [RCV002443679] Chr7:100823830 [GRCh38]
Chr7:100421452 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1428_1447dup (p.Arg483fs) duplication not provided [RCV002838685] Chr7:100817332..100817333 [GRCh38]
Chr7:100414954..100414955 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.808+3G>A single nucleotide variant not provided [RCV002970984] Chr7:100822268 [GRCh38]
Chr7:100419890 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2428A>G (p.Met810Val) single nucleotide variant Cardiovascular phenotype [RCV004117203] Chr7:100806476 [GRCh38]
Chr7:100404098 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1113G>A (p.Ala371=) single nucleotide variant not provided [RCV002972463] Chr7:100819741 [GRCh38]
Chr7:100417363 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1481T>C (p.Leu494Pro) single nucleotide variant not provided [RCV002993851] Chr7:100817299 [GRCh38]
Chr7:100414921 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.823A>G (p.Thr275Ala) single nucleotide variant Cardiovascular phenotype [RCV004108368] Chr7:100820282 [GRCh38]
Chr7:100417904 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2534G>C (p.Cys845Ser) single nucleotide variant Cardiovascular phenotype [RCV004103680] Chr7:100805645 [GRCh38]
Chr7:100403267 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.503C>T (p.Pro168Leu) single nucleotide variant Cardiovascular phenotype [RCV004240030] Chr7:100822576 [GRCh38]
Chr7:100420198 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.256G>A (p.Val86Met) single nucleotide variant Cardiovascular phenotype [RCV004120847] Chr7:100823799 [GRCh38]
Chr7:100421421 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1871-14G>A single nucleotide variant not provided [RCV002591189] Chr7:100813008 [GRCh38]
Chr7:100410630 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1145G>T (p.Gly382Val) single nucleotide variant Cardiovascular phenotype [RCV004149861] Chr7:100819709 [GRCh38]
Chr7:100417331 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2078_2079del (p.Thr693fs) microsatellite not provided [RCV002871025] Chr7:100812786..100812787 [GRCh38]
Chr7:100410408..100410409 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1548del (p.Phe518fs) deletion not provided [RCV002866144] Chr7:100817232 [GRCh38]
Chr7:100414854 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1181G>A (p.Arg394Gln) single nucleotide variant Cardiovascular phenotype [RCV004617094]|not provided [RCV002756952] Chr7:100819673 [GRCh38]
Chr7:100417295 [GRCh37]
Chr7:7q22.1		 benign|uncertain significance
NM_004444.5(EPHB4):c.412-9del deletion not provided [RCV002976339] Chr7:100822676 [GRCh38]
Chr7:100420298 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1072G>T (p.Ala358Ser) single nucleotide variant Cardiovascular phenotype [RCV004139422] Chr7:100819782 [GRCh38]
Chr7:100417404 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1616C>A (p.Ala539Asp) single nucleotide variant Cardiovascular phenotype [RCV004172683] Chr7:100813994 [GRCh38]
Chr7:100411616 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.965-6C>A single nucleotide variant not provided [RCV002639134] Chr7:100819895 [GRCh38]
Chr7:100417517 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.449dup (p.Gly152fs) duplication not provided [RCV002866397] Chr7:100822629..100822630 [GRCh38]
Chr7:100420251..100420252 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.28G>T (p.Ala10Ser) single nucleotide variant not provided [RCV002760810] Chr7:100827003 [GRCh38]
Chr7:100424625 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1555G>A (p.Gly519Ser) single nucleotide variant Cardiovascular phenotype [RCV004064716]|not provided [RCV002756988] Chr7:100817225 [GRCh38]
Chr7:100414847 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1691_1691+10del deletion not provided [RCV002979321] Chr7:100813909..100813919 [GRCh38]
Chr7:100411531..100411541 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2957A>G (p.Gln986Arg) single nucleotide variant Cardiovascular phenotype [RCV004080956] Chr7:100803468 [GRCh38]
Chr7:100401090 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1870+13G>A single nucleotide variant not provided [RCV002570282] Chr7:100813082 [GRCh38]
Chr7:100410704 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1925G>A (p.Ser642Asn) single nucleotide variant not provided [RCV002823793] Chr7:100812940 [GRCh38]
Chr7:100410562 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.124-11_124-9del deletion not provided [RCV002695749] Chr7:100823940..100823942 [GRCh38]
Chr7:100421562..100421564 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1033G>A (p.Ala345Thr) single nucleotide variant Cardiovascular phenotype [RCV004201094] Chr7:100819821 [GRCh38]
Chr7:100417443 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.794A>G (p.Asn265Ser) single nucleotide variant not provided [RCV002626410] Chr7:100822285 [GRCh38]
Chr7:100419907 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1438A>G (p.Ser480Gly) single nucleotide variant not provided [RCV002576113] Chr7:100817342 [GRCh38]
Chr7:100414964 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.987C>T (p.Ser329=) single nucleotide variant Cardiovascular phenotype [RCV003164767]|EPHB4-related disorder [RCV003896216]|not provided [RCV002575198] Chr7:100819867 [GRCh38]
Chr7:100417489 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.965-14C>G single nucleotide variant not provided [RCV002625954] Chr7:100819903 [GRCh38]
Chr7:100417525 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2620C>G (p.Leu874Val) single nucleotide variant Cardiovascular phenotype [RCV004177855] Chr7:100805559 [GRCh38]
Chr7:100403181 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.752C>T (p.Thr251Met) single nucleotide variant Cardiovascular phenotype [RCV004195606] Chr7:100822327 [GRCh38]
Chr7:100419949 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.52+13dup duplication not provided [RCV002786277] Chr7:100826965..100826966 [GRCh38]
Chr7:100424587..100424588 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2093A>G (p.Asn698Ser) single nucleotide variant not provided [RCV002666830] Chr7:100812772 [GRCh38]
Chr7:100410394 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.703C>T (p.Pro235Ser) single nucleotide variant not provided [RCV002933196] Chr7:100822376 [GRCh38]
Chr7:100419998 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.53-13C>A single nucleotide variant not provided [RCV002573928] Chr7:100824286 [GRCh38]
Chr7:100421908 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2117G>A (p.Arg706Gln) single nucleotide variant Cardiovascular phenotype [RCV004234822] Chr7:100812748 [GRCh38]
Chr7:100410370 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1728C>G (p.Asp576Glu) single nucleotide variant not provided [RCV002958410] Chr7:100813680 [GRCh38]
Chr7:100411302 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.623C>T (p.Pro208Leu) single nucleotide variant Cardiovascular phenotype [RCV003170669]|EPHB4-related disorder [RCV003963467]|not provided [RCV002957885] Chr7:100822456 [GRCh38]
Chr7:100420078 [GRCh37]
Chr7:7q22.1		 likely benign|conflicting interpretations of pathogenicity
NM_004444.5(EPHB4):c.1247C>G (p.Ala416Gly) single nucleotide variant Cardiovascular phenotype [RCV004121601] Chr7:100819607 [GRCh38]
Chr7:100417229 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2718C>G (p.Tyr906Ter) single nucleotide variant not provided [RCV002642624] Chr7:100805282 [GRCh38]
Chr7:100402904 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2678+10G>A single nucleotide variant not provided [RCV003085066] Chr7:100805491 [GRCh38]
Chr7:100403113 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1372C>T (p.Arg458Trp) single nucleotide variant not provided [RCV002918901] Chr7:100818570 [GRCh38]
Chr7:100416192 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.133C>G (p.Leu45Val) single nucleotide variant Cardiovascular phenotype [RCV004073319]|not provided [RCV003087186] Chr7:100823922 [GRCh38]
Chr7:100421544 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.1295A>T (p.Glu432Val) single nucleotide variant not provided [RCV002834245] Chr7:100819559 [GRCh38]
Chr7:100417181 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.946C>G (p.Arg316Gly) single nucleotide variant Cardiovascular phenotype [RCV004219156] Chr7:100820159 [GRCh38]
Chr7:100417781 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.28G>C (p.Ala10Pro) single nucleotide variant not provided [RCV003027079] Chr7:100827003 [GRCh38]
Chr7:100424625 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.412-9C>T single nucleotide variant not provided [RCV003011222] Chr7:100822676 [GRCh38]
Chr7:100420298 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.1749C>T (p.Ile583=) single nucleotide variant Cardiovascular phenotype [RCV004064444]|not provided [RCV002580204] Chr7:100813659 [GRCh38]
Chr7:100411281 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.963C>T (p.Thr321=) single nucleotide variant not provided [RCV003028474] Chr7:100820142 [GRCh38]
Chr7:100417764 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.96G>A (p.Trp32Ter) single nucleotide variant not provided [RCV002720973] Chr7:100824230 [GRCh38]
Chr7:100421852 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.8T>C (p.Leu3Pro) single nucleotide variant Cardiovascular phenotype [RCV004066111]|not provided [RCV002895861] Chr7:100827023 [GRCh38]
Chr7:100424645 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.410A>G (p.Lys137Arg) single nucleotide variant not provided [RCV002933728] Chr7:100823645 [GRCh38]
Chr7:100421267 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2485-15T>G single nucleotide variant not provided [RCV002583726] Chr7:100805709 [GRCh38]
Chr7:100403331 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.691C>G (p.Pro231Ala) single nucleotide variant not provided [RCV002584835] Chr7:100822388 [GRCh38]
Chr7:100420010 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.411+8G>A single nucleotide variant not provided [RCV002584836] Chr7:100823636 [GRCh38]
Chr7:100421258 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2334+13G>C single nucleotide variant not provided [RCV002653289] Chr7:100807352 [GRCh38]
Chr7:100404974 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1870+9C>T single nucleotide variant EPHB4-related disorder [RCV003963571]|not provided [RCV003050850] Chr7:100813086 [GRCh38]
Chr7:100410708 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1918_1919insCTT (p.Lys640delinsThrTer) insertion Lymphatic malformation 7 [RCV004797393] Chr7:100812946..100812947 [GRCh38]
Chr7:100410568..100410569 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1915A>G (p.Lys639Glu) single nucleotide variant not provided [RCV004781352] Chr7:100812950 [GRCh38]
Chr7:100410572 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.669C>T (p.Cys223=) single nucleotide variant Cardiovascular phenotype [RCV003297496] Chr7:100822410 [GRCh38]
Chr7:100420032 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1034C>G (p.Ala345Gly) single nucleotide variant Cardiovascular phenotype [RCV003297503]|EPHB4-related disorder [RCV003410339] Chr7:100819820 [GRCh38]
Chr7:100417442 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.868G>T (p.Ala290Ser) single nucleotide variant Cardiovascular phenotype [RCV003297504] Chr7:100820237 [GRCh38]
Chr7:100417859 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1471C>T (p.Arg491Trp) single nucleotide variant Cardiovascular phenotype [RCV003214048] Chr7:100817309 [GRCh38]
Chr7:100414931 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1759A>G (p.Thr587Ala) single nucleotide variant Cardiovascular phenotype [RCV003214050] Chr7:100813206 [GRCh38]
Chr7:100410828 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1736G>T (p.Gly579Val) single nucleotide variant Cardiovascular phenotype [RCV003214051] Chr7:100813672 [GRCh38]
Chr7:100411294 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.778G>A (p.Glu260Lys) single nucleotide variant Cardiovascular phenotype [RCV003214052] Chr7:100822301 [GRCh38]
Chr7:100419923 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1250C>T (p.Thr417Met) single nucleotide variant Cardiovascular phenotype [RCV003214053] Chr7:100819604 [GRCh38]
Chr7:100417226 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.263C>T (p.Ala88Val) single nucleotide variant Cardiovascular phenotype [RCV003176923] Chr7:100823792 [GRCh38]
Chr7:100421414 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1913G>C (p.Gly638Ala) single nucleotide variant Cardiovascular phenotype [RCV004280398] Chr7:100812952 [GRCh38]
Chr7:100410574 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1402G>A (p.Glu468Lys) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV003224940]|not provided [RCV004818304] Chr7:100818540 [GRCh38]
Chr7:100416162 [GRCh37]
Chr7:7q22.1		 likely pathogenic|uncertain significance
NM_004444.5(EPHB4):c.1331G>T (p.Arg444Leu) single nucleotide variant Cardiovascular phenotype [RCV004260848] Chr7:100818611 [GRCh38]
Chr7:100416233 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2178G>A (p.Ser726=) single nucleotide variant Cardiovascular phenotype [RCV003214049] Chr7:100807521 [GRCh38]
Chr7:100405143 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2770T>A (p.Tyr924Asn) single nucleotide variant Cardiovascular phenotype [RCV003176914] Chr7:100805230 [GRCh38]
Chr7:100402852 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.956C>G (p.Pro319Arg) single nucleotide variant Cardiovascular phenotype [RCV003176915] Chr7:100820149 [GRCh38]
Chr7:100417771 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.837G>A (p.Leu279=) single nucleotide variant Cardiovascular phenotype [RCV003176916] Chr7:100820268 [GRCh38]
Chr7:100417890 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1594G>A (p.Glu532Lys) single nucleotide variant Cardiovascular phenotype [RCV003176917] Chr7:100814016 [GRCh38]
Chr7:100411638 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1526C>T (p.Ala509Val) single nucleotide variant Cardiovascular phenotype [RCV003176918] Chr7:100817254 [GRCh38]
Chr7:100414876 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2771A>G (p.Tyr924Cys) single nucleotide variant Cardiovascular phenotype [RCV003176919] Chr7:100805229 [GRCh38]
Chr7:100402851 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.242G>A (p.Arg81Gln) single nucleotide variant Cardiovascular phenotype [RCV003176920]|not provided [RCV003730424] Chr7:100823813 [GRCh38]
Chr7:100421435 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.2417A>T (p.Tyr806Phe) single nucleotide variant Cardiovascular phenotype [RCV003176921] Chr7:100806487 [GRCh38]
Chr7:100404109 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.781G>A (p.Ala261Thr) single nucleotide variant Cardiovascular phenotype [RCV003176922] Chr7:100822298 [GRCh38]
Chr7:100419920 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.867A>G (p.Pro289=) single nucleotide variant Cardiovascular phenotype [RCV003176924] Chr7:100820238 [GRCh38]
Chr7:100417860 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1898G>A (p.Arg633Gln) single nucleotide variant Cardiovascular phenotype [RCV003176929] Chr7:100812967 [GRCh38]
Chr7:100410589 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1471C>A (p.Arg491=) single nucleotide variant Cardiovascular phenotype [RCV003176930] Chr7:100817309 [GRCh38]
Chr7:100414931 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.719G>C (p.Arg240Pro) single nucleotide variant Cardiovascular phenotype [RCV003171406] Chr7:100822360 [GRCh38]
Chr7:100419982 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.670G>A (p.Val224Met) single nucleotide variant Cardiovascular phenotype [RCV004326699]|not provided [RCV004723255] Chr7:100822409 [GRCh38]
Chr7:100420031 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2443T>C (p.Ser815Pro) single nucleotide variant not provided [RCV003149363] Chr7:100806461 [GRCh38]
Chr7:100404083 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2839C>A (p.Leu947Met) single nucleotide variant Cardiovascular phenotype [RCV003171403] Chr7:100803586 [GRCh38]
Chr7:100401208 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2406T>C (p.Asp802=) single nucleotide variant Cardiovascular phenotype [RCV003171404] Chr7:100806498 [GRCh38]
Chr7:100404120 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.507C>T (p.Leu169=) single nucleotide variant Cardiovascular phenotype [RCV003171405] Chr7:100822572 [GRCh38]
Chr7:100420194 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2197G>T (p.Glu733Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV003229500] Chr7:100807502 [GRCh38]
Chr7:100405124 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1961C>T (p.Thr654Met) single nucleotide variant Cardiovascular phenotype [RCV004257768]|not provided [RCV003542474] Chr7:100812904 [GRCh38]
Chr7:100410526 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.2576A>G (p.Lys859Arg) single nucleotide variant Cardiovascular phenotype [RCV004285000]|Lymphatic malformation 7 [RCV003458914] Chr7:100805603 [GRCh38]
Chr7:100403225 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.692C>T (p.Pro231Leu) single nucleotide variant Cardiovascular phenotype [RCV003176925] Chr7:100822387 [GRCh38]
Chr7:100420009 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1538C>A (p.Ala513Asp) single nucleotide variant Cardiovascular phenotype [RCV003176926] Chr7:100817242 [GRCh38]
Chr7:100414864 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.213C>T (p.His71=) single nucleotide variant Cardiovascular phenotype [RCV003176927] Chr7:100823842 [GRCh38]
Chr7:100421464 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1449G>A (p.Arg483=) single nucleotide variant Cardiovascular phenotype [RCV003176928] Chr7:100817331 [GRCh38]
Chr7:100414953 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2017C>A (p.His673Asn) single nucleotide variant not provided [RCV003318804] Chr7:100812848 [GRCh38]
Chr7:100410470 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.419C>G (p.Thr140Arg) single nucleotide variant Cardiovascular phenotype [RCV004323288] Chr7:100822660 [GRCh38]
Chr7:100420282 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2097C>T (p.Gly699=) single nucleotide variant Cardiovascular phenotype [RCV003310105]|not provided [RCV003720838] Chr7:100812768 [GRCh38]
Chr7:100410390 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.138C>T (p.Ser46=) single nucleotide variant Cardiovascular phenotype [RCV003310106] Chr7:100823917 [GRCh38]
Chr7:100421539 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.380C>T (p.Thr127Met) single nucleotide variant Cardiovascular phenotype [RCV003310107] Chr7:100823675 [GRCh38]
Chr7:100421297 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.167G>A (p.Arg56His) single nucleotide variant Cardiovascular phenotype [RCV003310109] Chr7:100823888 [GRCh38]
Chr7:100421510 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2682C>G (p.Ala894=) single nucleotide variant Cardiovascular phenotype [RCV003310110] Chr7:100805318 [GRCh38]
Chr7:100402940 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.732dup (p.Trp245fs) duplication Capillary malformation-arteriovenous malformation 2 [RCV003328135] Chr7:100822346..100822347 [GRCh38]
Chr7:100419968..100419969 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2772C>G (p.Tyr924Ter) single nucleotide variant EPHB4-related disorder [RCV004548605] Chr7:100805228 [GRCh38]
Chr7:100402850 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1322G>A (p.Arg441Gln) single nucleotide variant Cardiovascular phenotype [RCV003384261] Chr7:100818620 [GRCh38]
Chr7:100416242 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1444G>C (p.Val482Leu) single nucleotide variant Cardiovascular phenotype [RCV003384262] Chr7:100817336 [GRCh38]
Chr7:100414958 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.574C>G (p.Leu192Val) single nucleotide variant Cardiovascular phenotype [RCV003384263] Chr7:100822505 [GRCh38]
Chr7:100420127 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.139G>A (p.Gly47Ser) single nucleotide variant Cardiovascular phenotype [RCV003384264] Chr7:100823916 [GRCh38]
Chr7:100421538 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.805C>G (p.Arg269Gly) single nucleotide variant Cardiovascular phenotype [RCV003384265] Chr7:100822274 [GRCh38]
Chr7:100419896 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1435C>T (p.Pro479Ser) single nucleotide variant Cardiovascular phenotype [RCV003384266] Chr7:100817345 [GRCh38]
Chr7:100414967 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1120G>T (p.Gly374Trp) single nucleotide variant Cardiovascular phenotype [RCV003384267] Chr7:100819734 [GRCh38]
Chr7:100417356 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.914G>A (p.Arg305His) single nucleotide variant Cardiovascular phenotype [RCV003384260] Chr7:100820191 [GRCh38]
Chr7:100417813 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1142C>G (p.Pro381Arg) single nucleotide variant Cardiovascular phenotype [RCV004366185] Chr7:100819712 [GRCh38]
Chr7:100417334 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1306G>A (p.Ala436Thr) single nucleotide variant Cardiovascular phenotype [RCV004361961] Chr7:100818636 [GRCh38]
Chr7:100416258 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1109G>T (p.Cys370Phe) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV003333325] Chr7:100819745 [GRCh38]
Chr7:100417367 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.282G>T (p.Met94Ile) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV003445234]|Cardiovascular phenotype [RCV004337050] Chr7:100823773 [GRCh38]
Chr7:100421395 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2213A>G (p.His738Arg) single nucleotide variant Lymphatic malformation 7 [RCV003459024] Chr7:100807486 [GRCh38]
Chr7:100405108 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.785C>T (p.Ala262Val) single nucleotide variant Cardiovascular phenotype [RCV003384259] Chr7:100822294 [GRCh38]
Chr7:100419916 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.402C>G (p.Pro134=) single nucleotide variant Cardiovascular phenotype [RCV003384258] Chr7:100823653 [GRCh38]
Chr7:100421275 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.997C>T (p.Arg333Cys) single nucleotide variant Cardiovascular phenotype [RCV003386966]|not provided [RCV003434755] Chr7:100819857 [GRCh38]
Chr7:100417479 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.919G>A (p.Gly307Arg) single nucleotide variant Lymphatic malformation 7 [RCV004797105] Chr7:100820186 [GRCh38]
Chr7:100417808 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2845C>T (p.Arg949Ter) single nucleotide variant not provided [RCV003570147] Chr7:100803580 [GRCh38]
Chr7:100401202 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1 copy number loss not provided [RCV003482971] Chr7:99114000..101878272 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.52+14_52+16del deletion not provided [RCV003736373] Chr7:100826963..100826965 [GRCh38]
Chr7:100424585..100424587 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.17T>A (p.Leu6Gln) single nucleotide variant not provided [RCV003721157] Chr7:100827014 [GRCh38]
Chr7:100424636 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.961A>T (p.Thr321Ser) single nucleotide variant not provided [RCV003542990] Chr7:100820144 [GRCh38]
Chr7:100417766 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1807G>A (p.Val603Met) single nucleotide variant EPHB4-related disorder [RCV003421142] Chr7:100813158 [GRCh38]
Chr7:100410780 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2230C>T (p.Arg744Cys) single nucleotide variant EPHB4-related disorder [RCV003400456] Chr7:100807469 [GRCh38]
Chr7:100405091 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.261C>T (p.Tyr87=) single nucleotide variant not provided [RCV003423681] Chr7:100823794 [GRCh38]
Chr7:100421416 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.193C>T (p.Arg65Cys) single nucleotide variant not provided [RCV004809498] Chr7:100823862 [GRCh38]
Chr7:100421484 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.176A>G (p.Glu59Gly) single nucleotide variant not provided [RCV004787467] Chr7:100823879 [GRCh38]
Chr7:100421501 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.247G>A (p.Ala83Thr) single nucleotide variant Cardiovascular phenotype [RCV004621798]|not provided [RCV003441263] Chr7:100823808 [GRCh38]
Chr7:100421430 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.2273A>G (p.Asp758Gly) single nucleotide variant Lymphatic malformation 7 [RCV004789731] Chr7:100807426 [GRCh38]
Chr7:100405048 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2353C>T (p.Arg785Ter) single nucleotide variant EPHB4-related disorder [RCV003402383]|not provided [RCV003778224] Chr7:100806551 [GRCh38]
Chr7:100404173 [GRCh37]
Chr7:7q22.1		 pathogenic|likely pathogenic
NM_004444.5(EPHB4):c.1231G>A (p.Gly411Arg) single nucleotide variant EPHB4-related disorder [RCV003397849]|not provided [RCV003778257] Chr7:100819623 [GRCh38]
Chr7:100417245 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2485-1G>A single nucleotide variant EPHB4-related disorder [RCV003404209] Chr7:100805695 [GRCh38]
Chr7:100403317 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2597G>A (p.Arg866His) single nucleotide variant EPHB4-related disorder [RCV003412128] Chr7:100805582 [GRCh38]
Chr7:100403204 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1087G>T (p.Glu363Ter) single nucleotide variant EPHB4-related disorder [RCV003422451] Chr7:100819767 [GRCh38]
Chr7:100417389 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2573_2598del (p.Gln858fs) deletion EPHB4-related disorder [RCV003402979] Chr7:100805581..100805606 [GRCh38]
Chr7:100403203..100403228 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.991G>T (p.Val331Phe) single nucleotide variant not provided [RCV003433995] Chr7:100819863 [GRCh38]
Chr7:100417485 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.924C>G (p.Tyr308Ter) single nucleotide variant EPHB4-related disorder [RCV003402523] Chr7:100820181 [GRCh38]
Chr7:100417803 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.717_727del (p.Cys239fs) deletion EPHB4-related disorder [RCV003419059] Chr7:100822352..100822362 [GRCh38]
Chr7:100419974..100419984 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.54G>C (p.Glu18Asp) single nucleotide variant not provided [RCV003442667] Chr7:100824272 [GRCh38]
Chr7:100421894 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.589T>G (p.Cys197Gly) single nucleotide variant not provided [RCV003575212] Chr7:100822490 [GRCh38]
Chr7:100420112 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1691G>C (p.Arg564Thr) single nucleotide variant not provided [RCV003692192] Chr7:100813919 [GRCh38]
Chr7:100411541 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2537C>A (p.Pro846His) single nucleotide variant not provided [RCV003577429] Chr7:100805642 [GRCh38]
Chr7:100403264 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.428C>T (p.Ala143Val) single nucleotide variant Cardiovascular phenotype [RCV004369594]|not provided [RCV003878301] Chr7:100822651 [GRCh38]
Chr7:100420273 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.2552_2553delinsCC (p.Gln851Pro) indel not provided [RCV003713717] Chr7:100805626..100805627 [GRCh38]
Chr7:100403248..100403249 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1120G>A (p.Gly374Arg) single nucleotide variant Cardiovascular phenotype [RCV004621810]|not provided [RCV003547014] Chr7:100819734 [GRCh38]
Chr7:100417356 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.1636G>C (p.Val546Leu) single nucleotide variant not specified [RCV003489561] Chr7:100813974 [GRCh38]
Chr7:100411596 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1026A>G (p.Glu342=) single nucleotide variant not provided [RCV003661437] Chr7:100819828 [GRCh38]
Chr7:100417450 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1945del (p.Thr648_Leu649insTer) deletion not provided [RCV003578073] Chr7:100812920 [GRCh38]
Chr7:100410542 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1522C>T (p.Arg508Trp) single nucleotide variant not provided [RCV003661746] Chr7:100817258 [GRCh38]
Chr7:100414880 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2024A>T (p.Asn675Ile) single nucleotide variant not provided [RCV003691635] Chr7:100812841 [GRCh38]
Chr7:100410463 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.844G>T (p.Glu282Ter) single nucleotide variant not provided [RCV003544183] Chr7:100820261 [GRCh38]
Chr7:100417883 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.732G>C (p.Gln244His) single nucleotide variant not provided [RCV003689913] Chr7:100822347 [GRCh38]
Chr7:100419969 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1724C>T (p.Ser575Leu) single nucleotide variant not provided [RCV003829882] Chr7:100813684 [GRCh38]
Chr7:100411306 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2458C>T (p.Pro820Ser) single nucleotide variant not provided [RCV003543853] Chr7:100806446 [GRCh38]
Chr7:100404068 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1039del (p.Leu347fs) deletion not provided [RCV003693865] Chr7:100819815 [GRCh38]
Chr7:100417437 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2335-19T>A single nucleotide variant not provided [RCV003829261] Chr7:100806588 [GRCh38]
Chr7:100404210 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.124-2A>G single nucleotide variant not provided [RCV003877679] Chr7:100823933 [GRCh38]
Chr7:100421555 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.964+1G>A single nucleotide variant not provided [RCV003547444] Chr7:100820140 [GRCh38]
Chr7:100417762 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.790G>A (p.Gly264Arg) single nucleotide variant not provided [RCV003659620] Chr7:100822289 [GRCh38]
Chr7:100419911 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.412-11C>G single nucleotide variant not provided [RCV003833178] Chr7:100822678 [GRCh38]
Chr7:100420300 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2864C>T (p.Ala955Val) single nucleotide variant not provided [RCV003549612] Chr7:100803561 [GRCh38]
Chr7:100401183 [GRCh37]
Chr7:7q22.1		 benign|likely benign
NM_004444.5(EPHB4):c.255C>A (p.His85Gln) single nucleotide variant not provided [RCV004801874] Chr7:100823800 [GRCh38]
Chr7:100421422 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.896C>T (p.Ser299Leu) single nucleotide variant Lymphatic malformation 7 [RCV004559030]|not provided [RCV003832517] Chr7:100820209 [GRCh38]
Chr7:100417831 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1477G>T (p.Glu493Ter) single nucleotide variant not provided [RCV003702680] Chr7:100817303 [GRCh38]
Chr7:100414925 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.965-3C>T single nucleotide variant EPHB4-related disorder [RCV003981034]|not provided [RCV003670500] Chr7:100819892 [GRCh38]
Chr7:100417514 [GRCh37]
Chr7:7q22.1		 likely benign|uncertain significance
NM_004444.5(EPHB4):c.2915C>A (p.Ala972Asp) single nucleotide variant EPHB4-associated vascular malformation spectrum [RCV003994774] Chr7:100803510 [GRCh38]
Chr7:100401132 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1087dup (p.Glu363fs) duplication not provided [RCV003697240] Chr7:100819766..100819767 [GRCh38]
Chr7:100417388..100417389 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2459C>A (p.Pro820Gln) single nucleotide variant not provided [RCV003849440] Chr7:100806445 [GRCh38]
Chr7:100404067 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.881C>G (p.Ser294Cys) single nucleotide variant not provided [RCV003724136] Chr7:100820224 [GRCh38]
Chr7:100417846 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.589T>C (p.Cys197Arg) single nucleotide variant Cardiovascular phenotype [RCV004366899]|not provided [RCV003837505] Chr7:100822490 [GRCh38]
Chr7:100420112 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.52+14C>A single nucleotide variant not provided [RCV003839898] Chr7:100826965 [GRCh38]
Chr7:100424587 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.109C>T (p.Gln37Ter) single nucleotide variant not provided [RCV003698514] Chr7:100824217 [GRCh38]
Chr7:100421839 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.835_836del (p.Leu279fs) deletion not provided [RCV003673727] Chr7:100820269..100820270 [GRCh38]
Chr7:100417891..100417892 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.216G>T (p.Trp72Cys) single nucleotide variant not provided [RCV003856095] Chr7:100823839 [GRCh38]
Chr7:100421461 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.52+19_52+20insT insertion not provided [RCV003837634] Chr7:100826959..100826960 [GRCh38]
Chr7:100424581..100424582 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1691+1G>A single nucleotide variant not provided [RCV003854864] Chr7:100813918 [GRCh38]
Chr7:100411540 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.429G>A (p.Ala143=) single nucleotide variant Cardiovascular phenotype [RCV004621914]|not provided [RCV003813740] Chr7:100822650 [GRCh38]
Chr7:100420272 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.52+15_52+16insC insertion not provided [RCV003832694] Chr7:100826963..100826964 [GRCh38]
Chr7:100424585..100424586 [GRCh37]
Chr7:7q22.1		 benign
NM_004444.5(EPHB4):c.2370G>C (p.Glu790Asp) single nucleotide variant not provided [RCV003704593] Chr7:100806534 [GRCh38]
Chr7:100404156 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.716G>T (p.Cys239Phe) single nucleotide variant not provided [RCV003542265] Chr7:100822363 [GRCh38]
Chr7:100419985 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1692-4A>G single nucleotide variant not provided [RCV003729714] Chr7:100813720 [GRCh38]
Chr7:100411342 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.365C>T (p.Thr122Met) single nucleotide variant not provided [RCV003846407] Chr7:100823690 [GRCh38]
Chr7:100421312 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.617G>A (p.Arg206Gln) single nucleotide variant not provided [RCV003730628] Chr7:100822462 [GRCh38]
Chr7:100420084 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2398G>A (p.Ala800Thr) single nucleotide variant not provided [RCV003728897] Chr7:100806506 [GRCh38]
Chr7:100404128 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.412-10C>G single nucleotide variant not provided [RCV003858816] Chr7:100822677 [GRCh38]
Chr7:100420299 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1582C>G (p.Leu528Val) single nucleotide variant not provided [RCV003841604] Chr7:100817198 [GRCh38]
Chr7:100414820 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1496G>A (p.Arg499Gln) single nucleotide variant not provided [RCV003857967] Chr7:100817284 [GRCh38]
Chr7:100414906 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.128_134dup (p.Ser46fs) duplication not provided [RCV003564056] Chr7:100823920..100823921 [GRCh38]
Chr7:100421542..100421543 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2162T>C (p.Leu721Pro) single nucleotide variant not provided [RCV003685958] Chr7:100807537 [GRCh38]
Chr7:100405159 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.564A>G (p.Leu188=) single nucleotide variant Cardiovascular phenotype [RCV004369599]|not provided [RCV003870954] Chr7:100822515 [GRCh38]
Chr7:100420137 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1207del (p.Thr403fs) deletion not provided [RCV003711431] Chr7:100819647 [GRCh38]
Chr7:100417269 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.390G>A (p.Trp130Ter) single nucleotide variant not provided [RCV003670712] Chr7:100823665 [GRCh38]
Chr7:100421287 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.1870+9C>A single nucleotide variant not provided [RCV003729941] Chr7:100813086 [GRCh38]
Chr7:100410708 [GRCh37]
Chr7:7q22.1		 benign
GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1 copy number loss not specified [RCV003986701] Chr7:98396469..102108193 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.128A>T (p.Glu43Val) single nucleotide variant not provided [RCV003728888] Chr7:100823927 [GRCh38]
Chr7:100421549 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1799_1802dup (p.Glu601_Ala602insTer) duplication not provided [RCV003677836] Chr7:100813162..100813163 [GRCh38]
Chr7:100410784..100410785 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.304C>T (p.Arg102Trp) single nucleotide variant not provided [RCV003820202] Chr7:100823751 [GRCh38]
Chr7:100421373 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2254C>T (p.Leu752Phe) single nucleotide variant Cardiovascular phenotype [RCV004371640]|not provided [RCV003682298] Chr7:100807445 [GRCh38]
Chr7:100405067 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1709G>A (p.Arg570Lys) single nucleotide variant not provided [RCV003678267] Chr7:100813699 [GRCh38]
Chr7:100411321 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2118+13C>T single nucleotide variant not provided [RCV003679514] Chr7:100812734 [GRCh38]
Chr7:100410356 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.52+14_52+15delinsGC indel not provided [RCV003824157] Chr7:100826964..100826965 [GRCh38]
Chr7:100424586..100424587 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.192G>A (p.Gln64=) single nucleotide variant Cardiovascular phenotype [RCV004369055]|not provided [RCV003550503] Chr7:100823863 [GRCh38]
Chr7:100421485 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2561T>C (p.Leu854Pro) single nucleotide variant not provided [RCV003550802] Chr7:100805618 [GRCh38]
Chr7:100403240 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.218T>G (p.Leu73Arg) single nucleotide variant not provided [RCV003565371] Chr7:100823837 [GRCh38]
Chr7:100421459 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.757T>C (p.Cys253Arg) single nucleotide variant not provided [RCV003568235] Chr7:100822322 [GRCh38]
Chr7:100419944 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1691+8C>A single nucleotide variant EPHB4-related disorder [RCV003899225] Chr7:100813911 [GRCh38]
Chr7:100411533 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.221G>A (p.Arg74His) single nucleotide variant Cardiovascular phenotype [RCV004519002] Chr7:100823834 [GRCh38]
Chr7:100421456 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1005C>T (p.Asn335=) single nucleotide variant Cardiovascular phenotype [RCV004518988] Chr7:100819849 [GRCh38]
Chr7:100417471 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1091G>A (p.Cys364Tyr) single nucleotide variant Cardiovascular phenotype [RCV004518989] Chr7:100819763 [GRCh38]
Chr7:100417385 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.162C>T (p.Ser54=) single nucleotide variant Cardiovascular phenotype [RCV004518998] Chr7:100823893 [GRCh38]
Chr7:100421515 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2617G>A (p.Ala873Thr) single nucleotide variant Cardiovascular phenotype [RCV004519005] Chr7:100805562 [GRCh38]
Chr7:100403184 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2868A>G (p.Gly956=) single nucleotide variant Cardiovascular phenotype [RCV004519011] Chr7:100803557 [GRCh38]
Chr7:100401179 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.312G>A (p.Gly104=) single nucleotide variant Cardiovascular phenotype [RCV004519015] Chr7:100823743 [GRCh38]
Chr7:100421365 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.796A>G (p.Thr266Ala) single nucleotide variant Cardiovascular phenotype [RCV004519019] Chr7:100822283 [GRCh38]
Chr7:100419905 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.982C>T (p.Arg328Trp) single nucleotide variant Cardiovascular phenotype [RCV004519024] Chr7:100819872 [GRCh38]
Chr7:100417494 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1351A>C (p.Ser451Arg) single nucleotide variant Cardiovascular phenotype [RCV004518993] Chr7:100818591 [GRCh38]
Chr7:100416213 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1643G>A (p.Gly548Asp) single nucleotide variant Cardiovascular phenotype [RCV004518999] Chr7:100813967 [GRCh38]
Chr7:100411589 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2877G>T (p.Lys959Asn) single nucleotide variant Cardiovascular phenotype [RCV004519012] Chr7:100803548 [GRCh38]
Chr7:100401170 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2908T>C (p.Ser970Pro) single nucleotide variant Cardiovascular phenotype [RCV004519013] Chr7:100803517 [GRCh38]
Chr7:100401139 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2912A>G (p.Gln971Arg) single nucleotide variant Cardiovascular phenotype [RCV004519014] Chr7:100803513 [GRCh38]
Chr7:100401135 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1746C>T (p.Leu582=) single nucleotide variant Cardiovascular phenotype [RCV004519000] Chr7:100813662 [GRCh38]
Chr7:100411284 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1185G>A (p.Gly395=) single nucleotide variant Cardiovascular phenotype [RCV004518991] Chr7:100819669 [GRCh38]
Chr7:100417291 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2632A>G (p.Ile878Val) single nucleotide variant Cardiovascular phenotype [RCV004519006] Chr7:100805547 [GRCh38]
Chr7:100403169 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.654C>T (p.Pro218=) single nucleotide variant Cardiovascular phenotype [RCV004519016] Chr7:100822425 [GRCh38]
Chr7:100420047 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.676G>C (p.Asp226His) single nucleotide variant Cardiovascular phenotype [RCV004519018] Chr7:100822403 [GRCh38]
Chr7:100420025 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.868G>A (p.Ala290Thr) single nucleotide variant Cardiovascular phenotype [RCV004519020] Chr7:100820237 [GRCh38]
Chr7:100417859 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.981G>A (p.Pro327=) single nucleotide variant Cardiovascular phenotype [RCV004519023] Chr7:100819873 [GRCh38]
Chr7:100417495 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.525C>G (p.Tyr175Ter) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV004557271] Chr7:100822554 [GRCh38]
Chr7:100420176 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.412G>T (p.Val138Leu) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV003989388] Chr7:100822667 [GRCh38]
Chr7:100420289 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1315G>A (p.Asp439Asn) single nucleotide variant Cardiovascular phenotype [RCV004518992] Chr7:100818627 [GRCh38]
Chr7:100416249 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.15G>A (p.Val5=) single nucleotide variant Cardiovascular phenotype [RCV004518997] Chr7:100827016 [GRCh38]
Chr7:100424638 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2296G>A (p.Glu766Lys) single nucleotide variant Cardiovascular phenotype [RCV004519003] Chr7:100807403 [GRCh38]
Chr7:100405025 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2787A>G (p.Ala929=) single nucleotide variant Cardiovascular phenotype [RCV004519009] Chr7:100805213 [GRCh38]
Chr7:100402835 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2851G>A (p.Gly951Arg) single nucleotide variant Cardiovascular phenotype [RCV004519010] Chr7:100803574 [GRCh38]
Chr7:100401196 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.673G>T (p.Val225Leu) single nucleotide variant Cardiovascular phenotype [RCV004519017] Chr7:100822406 [GRCh38]
Chr7:100420028 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.975G>C (p.Ser325=) single nucleotide variant Cardiovascular phenotype [RCV004519022] Chr7:100819879 [GRCh38]
Chr7:100417501 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2119-7T>C single nucleotide variant EPHB4-related disorder [RCV003959625] Chr7:100807587 [GRCh38]
Chr7:100405209 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1588+8T>C single nucleotide variant EPHB4-related disorder [RCV003964516]|not provided [RCV004598309] Chr7:100817184 [GRCh38]
Chr7:100414806 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1573C>T (p.Gln525Ter) single nucleotide variant EPHB4-related disorder [RCV003983598] Chr7:100817207 [GRCh38]
Chr7:100414829 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.*5C>T single nucleotide variant EPHB4-related disorder [RCV003896371] Chr7:100803456 [GRCh38]
Chr7:100401078 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2485-9T>G single nucleotide variant EPHB4-related disorder [RCV003911921] Chr7:100805703 [GRCh38]
Chr7:100403325 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1298-9C>G single nucleotide variant EPHB4-related disorder [RCV003899057] Chr7:100818653 [GRCh38]
Chr7:100416275 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.338T>G (p.Val113Gly) single nucleotide variant EPHB4-related disorder [RCV003954317] Chr7:100823717 [GRCh38]
Chr7:100421339 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2467del (p.Asp823fs) deletion EPHB4-associated vascular malformation spectrum [RCV003994765] Chr7:100806437 [GRCh38]
Chr7:100404059 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1116C>G (p.Pro372=) single nucleotide variant Cardiovascular phenotype [RCV004518990] Chr7:100819738 [GRCh38]
Chr7:100417360 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1447C>T (p.Arg483Trp) single nucleotide variant Cardiovascular phenotype [RCV004518995] Chr7:100817333 [GRCh38]
Chr7:100414955 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1577C>T (p.Thr526Ile) single nucleotide variant Cardiovascular phenotype [RCV004518996] Chr7:100817203 [GRCh38]
Chr7:100414825 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1891C>T (p.Arg631Trp) single nucleotide variant Cardiovascular phenotype [RCV004519001] Chr7:100812974 [GRCh38]
Chr7:100410596 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2383C>T (p.Arg795Trp) single nucleotide variant Cardiovascular phenotype [RCV004519004] Chr7:100806521 [GRCh38]
Chr7:100404143 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2689C>T (p.Pro897Ser) single nucleotide variant Cardiovascular phenotype [RCV004519007] Chr7:100805311 [GRCh38]
Chr7:100402933 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2755A>G (p.Ile919Val) single nucleotide variant Cardiovascular phenotype [RCV004519008] Chr7:100805245 [GRCh38]
Chr7:100402867 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.908A>G (p.Gln303Arg) single nucleotide variant Cardiovascular phenotype [RCV004519021] Chr7:100820197 [GRCh38]
Chr7:100417819 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2424dup (p.Val809fs) duplication Capillary malformation-arteriovenous malformation syndrome [RCV004018265] Chr7:100806479..100806480 [GRCh38]
Chr7:100404101..100404102 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.2065G>A (p.Val689Ile) single nucleotide variant Cardiovascular phenotype [RCV004378024] Chr7:100812800 [GRCh38]
Chr7:100410422 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.851C>A (p.Ser284Tyr) single nucleotide variant Cardiovascular phenotype [RCV004378028] Chr7:100820254 [GRCh38]
Chr7:100417876 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1316A>G (p.Asp439Gly) single nucleotide variant Cardiovascular phenotype [RCV004378022] Chr7:100818626 [GRCh38]
Chr7:100416248 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2654A>G (p.Lys885Arg) single nucleotide variant not specified [RCV004527020] Chr7:100805525 [GRCh38]
Chr7:100403147 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.658G>T (p.Ala220Ser) single nucleotide variant Cardiovascular phenotype [RCV004378027] Chr7:100822421 [GRCh38]
Chr7:100420043 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.241C>T (p.Arg81Trp) single nucleotide variant Cardiovascular phenotype [RCV004378025] Chr7:100823814 [GRCh38]
Chr7:100421436 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.758G>A (p.Cys253Tyr) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV004566502] Chr7:100822321 [GRCh38]
Chr7:100419943 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2270_2271dup (p.Asp758fs) duplication Capillary malformation-arteriovenous malformation 2 [RCV004560414] Chr7:100807427..100807428 [GRCh38]
Chr7:100405049..100405050 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2785G>A (p.Ala929Thr) single nucleotide variant Lymphatic malformation 7 [RCV004560419] Chr7:100805215 [GRCh38]
Chr7:100402837 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.814G>T (p.Ala272Ser) single nucleotide variant Capillary malformation-arteriovenous malformation 2 [RCV004560417] Chr7:100820291 [GRCh38]
Chr7:100417913 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1667T>C (p.Ile556Thr) single nucleotide variant Cardiovascular phenotype [RCV004378023] Chr7:100813943 [GRCh38]
Chr7:100411565 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.254A>G (p.His85Arg) single nucleotide variant Cardiovascular phenotype [RCV004378026] Chr7:100823801 [GRCh38]
Chr7:100421423 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1340C>T (p.Pro447Leu) single nucleotide variant Cardiovascular phenotype [RCV004620583] Chr7:100818602 [GRCh38]
Chr7:100416224 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.616C>G (p.Arg206Gly) single nucleotide variant Cardiovascular phenotype [RCV004620579] Chr7:100822463 [GRCh38]
Chr7:100420085 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2485G>A (p.Val829Met) single nucleotide variant Cardiovascular phenotype [RCV004620586] Chr7:100805694 [GRCh38]
Chr7:100403316 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2424T>C (p.Ile808=) single nucleotide variant Cardiovascular phenotype [RCV004620587] Chr7:100806480 [GRCh38]
Chr7:100404102 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.532T>G (p.Phe178Val) single nucleotide variant Cardiovascular phenotype [RCV004620590] Chr7:100822547 [GRCh38]
Chr7:100420169 [GRCh37]
Chr7:7q22.1		 uncertain significance
NC_000007.13:g.(?_94024344)_(100860555_?)del deletion not provided [RCV004578536] Chr7:94024344..100860555 [GRCh37]
Chr7:7q21.3-22.1		 pathogenic
NM_004444.5(EPHB4):c.2126A>C (p.Asp709Ala) single nucleotide variant Cardiovascular phenotype [RCV004620570] Chr7:100807573 [GRCh38]
Chr7:100405195 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2698G>A (p.Asp900Asn) single nucleotide variant Cardiovascular phenotype [RCV004620574] Chr7:100805302 [GRCh38]
Chr7:100402924 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.913C>T (p.Arg305Cys) single nucleotide variant Cardiovascular phenotype [RCV004620578] Chr7:100820192 [GRCh38]
Chr7:100417814 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2681C>T (p.Ala894Val) single nucleotide variant Cardiovascular phenotype [RCV004620580] Chr7:100805319 [GRCh38]
Chr7:100402941 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1611G>C (p.Gln537His) single nucleotide variant Cardiovascular phenotype [RCV004620581] Chr7:100813999 [GRCh38]
Chr7:100411621 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2331C>G (p.Ser777=) single nucleotide variant Cardiovascular phenotype [RCV004620582] Chr7:100807368 [GRCh38]
Chr7:100404990 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1344C>G (p.Ser448Arg) single nucleotide variant Cardiovascular phenotype [RCV004620588] Chr7:100818598 [GRCh38]
Chr7:100416220 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1121G>A (p.Gly374Glu) single nucleotide variant Cardiovascular phenotype [RCV004620592] Chr7:100819733 [GRCh38]
Chr7:100417355 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2528C>G (p.Pro843Arg) single nucleotide variant Cardiovascular phenotype [RCV004620593] Chr7:100805651 [GRCh38]
Chr7:100403273 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.548C>T (p.Ala183Val) single nucleotide variant Cardiovascular phenotype [RCV004620597] Chr7:100822531 [GRCh38]
Chr7:100420153 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2591G>A (p.Arg864Gln) single nucleotide variant Cardiovascular phenotype [RCV004620571] Chr7:100805588 [GRCh38]
Chr7:100403210 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.371C>T (p.Thr124Met) single nucleotide variant Cardiovascular phenotype [RCV004620572] Chr7:100823684 [GRCh38]
Chr7:100421306 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2474G>A (p.Ser825Asn) single nucleotide variant Cardiovascular phenotype [RCV004620594] Chr7:100806430 [GRCh38]
Chr7:100404052 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.2009A>G (p.Gln670Arg) single nucleotide variant not provided [RCV004592186] Chr7:100812856 [GRCh38]
Chr7:100410478 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2389_2392del (p.Phe797fs) deletion Capillary malformation-arteriovenous malformation 2 [RCV004595404] Chr7:100806512..100806515 [GRCh38]
Chr7:100404134..100404137 [GRCh37]
Chr7:7q22.1		 pathogenic
NM_004444.5(EPHB4):c.203G>C (p.Gly68Ala) single nucleotide variant Cardiovascular phenotype [RCV004620575] Chr7:100823852 [GRCh38]
Chr7:100421474 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.798C>T (p.Thr266=) single nucleotide variant Cardiovascular phenotype [RCV004620591] Chr7:100822281 [GRCh38]
Chr7:100419903 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1895G>A (p.Gly632Glu) single nucleotide variant Cardiovascular phenotype [RCV004620584] Chr7:100812970 [GRCh38]
Chr7:100410592 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1943C>A (p.Thr648Asn) single nucleotide variant Cardiovascular phenotype [RCV004620585] Chr7:100812922 [GRCh38]
Chr7:100410544 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.280A>G (p.Met94Val) single nucleotide variant Cardiovascular phenotype [RCV004620595] Chr7:100823775 [GRCh38]
Chr7:100421397 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2587G>T (p.Ala863Ser) single nucleotide variant Cardiovascular phenotype [RCV004620596] Chr7:100805592 [GRCh38]
Chr7:100403214 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1901T>C (p.Leu634Pro) single nucleotide variant not provided [RCV004697379] Chr7:100812964 [GRCh38]
Chr7:100410586 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2157C>T (p.Gly719=) single nucleotide variant Cardiovascular phenotype [RCV004620569] Chr7:100807542 [GRCh38]
Chr7:100405164 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.1954G>A (p.Gly652Ser) single nucleotide variant Cardiovascular phenotype [RCV004620573] Chr7:100812911 [GRCh38]
Chr7:100410533 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.133C>A (p.Leu45Met) single nucleotide variant Cardiovascular phenotype [RCV004620576] Chr7:100823922 [GRCh38]
Chr7:100421544 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1371C>T (p.Pro457=) single nucleotide variant Cardiovascular phenotype [RCV004620577] Chr7:100818571 [GRCh38]
Chr7:100416193 [GRCh37]
Chr7:7q22.1		 likely benign
NM_004444.5(EPHB4):c.430G>A (p.Glu144Lys) single nucleotide variant Cardiovascular phenotype [RCV004620589] Chr7:100822649 [GRCh38]
Chr7:100420271 [GRCh37]
Chr7:7q22.1		 uncertain significance
NC_000007.13:g.(?_100401083)_(100420309_?)del deletion not provided [RCV004578525] Chr7:100401083..100420309 [GRCh37]
Chr7:7q22.1		 pathogenic
NC_000007.13:g.(?_100411254)_(100411663_?)del deletion not provided [RCV004578526] Chr7:100411254..100411663 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1588+5G>T single nucleotide variant not provided [RCV004697584] Chr7:100817187 [GRCh38]
Chr7:100414809 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1973G>A (p.Arg658Gln) single nucleotide variant EPHB4-related disorder [RCV004730695] Chr7:100812892 [GRCh38]
Chr7:100410514 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.989T>C (p.Val330Ala) single nucleotide variant not provided [RCV004762706]   uncertain significance
NM_004444.5(EPHB4):c.1756+5G>A single nucleotide variant not provided [RCV004725956] Chr7:100813647 [GRCh38]
Chr7:100411269 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1072G>C (p.Ala358Pro) single nucleotide variant EPHB4-related disorder [RCV004730424] Chr7:100819782 [GRCh38]
Chr7:100417404 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1436C>T (p.Pro479Leu) single nucleotide variant not provided [RCV004793084] Chr7:100817344 [GRCh38]
Chr7:100414966 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.770C>T (p.Pro257Leu) single nucleotide variant not provided [RCV004793085] Chr7:100822309 [GRCh38]
Chr7:100419931 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.2168del (p.Gly723fs) deletion EPHB4-related disorder [RCV004730445] Chr7:100807531 [GRCh38]
Chr7:100405153 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.2314C>T (p.Pro772Ser) single nucleotide variant not provided [RCV004769258] Chr7:100807385 [GRCh38]
Chr7:100405007 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.758_759delinsCT (p.Cys253Ser) indel not provided [RCV004774107] Chr7:100822320..100822321 [GRCh38]
Chr7:100419942..100419943 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1850T>C (p.Ile617Thr) single nucleotide variant not provided [RCV004769729] Chr7:100813115 [GRCh38]
Chr7:100410737 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1161_1162dup (p.Glu388fs) duplication Lymphatic malformation 7 [RCV004797508] Chr7:100819691..100819692 [GRCh38]
Chr7:100417313..100417314 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_004444.5(EPHB4):c.1692G>C (p.Arg564Ser) single nucleotide variant not provided [RCV004720185] Chr7:100813716 [GRCh38]
Chr7:100411338 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_004444.5(EPHB4):c.1423-34G>A single nucleotide variant not provided [RCV004810883] Chr7:100817391 [GRCh38]
Chr7:100415013 [GRCh37]
Chr7:7q22.1		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR20Bhsa-miR-20b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22438230

Predicted Target Of
Summary Value
Count of predictions:3502
Count of miRNA genes:956
Interacting mature miRNAs:1201
Transcripts:ENST00000358173, ENST00000360620, ENST00000467515, ENST00000477446, ENST00000478459, ENST00000487222, ENST00000489808, ENST00000492403, ENST00000492878
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406966649GWAS615625_Hmean corpuscular volume QTL GWAS615625 (human)3e-15mean corpuscular volumemean corpuscular volume (CMO:0000038)7100816525100816526Human
407093967GWAS742943_Hhair color QTL GWAS742943 (human)8e-12hair color7100804203100804204Human
406976222GWAS625198_Hmean corpuscular hemoglobin QTL GWAS625198 (human)1e-23mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)7100816525100816526Human

Markers in Region
D7S2738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,400,257 - 100,400,397UniSTSGRCh37
GRCh377100,400,770 - 100,400,952UniSTSGRCh37
Build 367100,238,706 - 100,238,888RGDNCBI36
Celera795,131,324 - 95,131,506RGD
Celera795,130,811 - 95,130,951UniSTS
Cytogenetic Map7q22UniSTS
HuRef795,030,997 - 95,031,137UniSTS
HuRef795,031,510 - 95,031,692UniSTS
CRA_TCAGchr7v2799,760,375 - 99,760,557UniSTS
CRA_TCAGchr7v2799,759,862 - 99,760,002UniSTS
Stanford-G3 RH Map74614.0UniSTS
NCBI RH Map71070.0UniSTS
GeneMap99-G3 RH Map74614.0UniSTS
EPHB4_612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,400,157 - 100,400,923UniSTSGRCh37
Build 367100,238,093 - 100,238,859RGDNCBI36
Celera795,130,711 - 95,131,477RGD
HuRef795,030,897 - 95,031,663UniSTS
CRA_TCAGchr7v2799,759,762 - 99,760,528UniSTS
D7S2738  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q22UniSTS
Stanford-G3 RH Map74623.0UniSTS
NCBI RH Map71070.0UniSTS
GeneMap99-G3 RH Map74623.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4955 1725 2350 5 624 1946 465 2269 7300 6466 53 3717 1 852 1744 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF312032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY056047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY056048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB962032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM868979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000358173   ⟹   ENSP00000350896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,802,565 - 100,827,523 (-)Ensembl
Ensembl Acc Id: ENST00000360620   ⟹   ENSP00000353833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,802,565 - 100,827,115 (-)Ensembl
Ensembl Acc Id: ENST00000467515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,807,365 - 100,813,339 (-)Ensembl
Ensembl Acc Id: ENST00000477446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,813,989 - 100,827,030 (-)Ensembl
Ensembl Acc Id: ENST00000478459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,806,418 - 100,814,088 (-)Ensembl
Ensembl Acc Id: ENST00000487222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,802,568 - 100,825,526 (-)Ensembl
Ensembl Acc Id: ENST00000489808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,817,245 - 100,827,030 (-)Ensembl
Ensembl Acc Id: ENST00000492403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,805,973 - 100,807,579 (-)Ensembl
Ensembl Acc Id: ENST00000492878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,818,551 - 100,820,482 (-)Ensembl
Ensembl Acc Id: ENST00000616502   ⟹   ENSP00000482702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,802,565 - 100,827,521 (-)Ensembl
RefSeq Acc Id: NM_004444   ⟹   NP_004435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,802,565 - 100,827,523 (-)NCBI
GRCh377100,400,187 - 100,425,143 (-)ENTREZGENE
Build 367100,238,123 - 100,263,079 (-)NCBI Archive
HuRef795,030,927 - 95,055,371 (-)ENTREZGENE
CHM1_17100,330,777 - 100,355,761 (-)NCBI
T2T-CHM13v2.07102,042,646 - 102,067,608 (-)NCBI
CRA_TCAGchr7v2799,759,792 - 99,784,748 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017011816   ⟹   XP_016867305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,802,565 - 100,827,523 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054357461   ⟹   XP_054213436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07102,042,646 - 102,067,608 (-)NCBI
RefSeq Acc Id: NP_004435   ⟸   NM_004444
- Peptide Label: precursor
- UniProtKB: Q9BTA5 (UniProtKB/Swiss-Prot),   Q7Z635 (UniProtKB/Swiss-Prot),   B5A972 (UniProtKB/Swiss-Prot),   B5A971 (UniProtKB/Swiss-Prot),   B5A970 (UniProtKB/Swiss-Prot),   Q9BXP0 (UniProtKB/Swiss-Prot),   P54760 (UniProtKB/Swiss-Prot),   Q541P7 (UniProtKB/TrEMBL),   Q59F17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867305   ⟸   XM_017011816
- Peptide Label: isoform X1
- UniProtKB: Q59F17 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000353833   ⟸   ENST00000360620
Ensembl Acc Id: ENSP00000482702   ⟸   ENST00000616502
Ensembl Acc Id: ENSP00000350896   ⟸   ENST00000358173
RefSeq Acc Id: XP_054213436   ⟸   XM_054357461
- Peptide Label: isoform X1
- UniProtKB: Q59F17 (UniProtKB/TrEMBL)
Protein Domains
Eph LBD   Fibronectin type-III   Protein kinase   SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P54760-F1-model_v2 AlphaFold P54760 1-987 view protein structure

Promoters
RGD ID:6805642
Promoter ID:HG_KWN:58974
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC003UWM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367100,260,951 - 100,261,852 (-)MPROMDB
RGD ID:6805640
Promoter ID:HG_KWN:58976
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:ENST00000360620,   NM_004444,   OTTHUMT00000347224,   OTTHUMT00000347225
Position:
Human AssemblyChrPosition (strand)Source
Build 367100,262,706 - 100,263,422 (-)MPROMDB
RGD ID:7211413
Promoter ID:EPDNEW_H11453
Type:initiation region
Name:EPHB4_2
Description:EPH receptor B4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11454  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,827,080 - 100,827,140EPDNEW
RGD ID:7211415
Promoter ID:EPDNEW_H11454
Type:initiation region
Name:EPHB4_1
Description:EPH receptor B4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11453  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,827,523 - 100,827,583EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3395 AgrOrtholog
COSMIC EPHB4 COSMIC
Ensembl Genes ENSG00000196411 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358173 ENTREZGENE
  ENST00000358173.8 UniProtKB/Swiss-Prot
  ENST00000360620.7 UniProtKB/TrEMBL
  ENST00000616502.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ephrin a2 ectodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumor Necrosis Factor Receptor, subunit A, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196411 GTEx
HGNC ID HGNC:3395 ENTREZGENE
Human Proteome Map EPHB4 Human Proteome Map
InterPro EPH-B4_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Eph_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EphB4_rcpt_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ephrin_rcpt_lig-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ephrin_rcpt_TKs UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr-kin_ephrin_A/B_rcpt-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_ephrin_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_rcpt_V_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2050 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2050 ENTREZGENE
OMIM 600011 OMIM
PANTHER EPH RECEPTOR A5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EPHRIN TYPE-B RECEPTOR 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EphA2_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ephrin_lbd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ephrin_rec_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_2 UniProtKB/TrEMBL
PharmGKB PA27827 PharmGKB
PIRSF TyrPK_ephrin_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS FNTYPEIII UniProtKB/TrEMBL
  TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EGF_2 UniProtKB/Swiss-Prot
  EPH_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RECEPTOR_TYR_KIN_V_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RECEPTOR_TYR_KIN_V_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EPH_lbd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ephrin_rec_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B5A970 ENTREZGENE
  B5A971 ENTREZGENE
  B5A972 ENTREZGENE
  EPHB4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q541P7 ENTREZGENE, UniProtKB/TrEMBL
  Q59F17 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z635 ENTREZGENE
  Q96L35_HUMAN UniProtKB/TrEMBL
  Q9BTA5 ENTREZGENE
  Q9BXP0 ENTREZGENE
UniProt Secondary B5A970 UniProtKB/Swiss-Prot
  B5A971 UniProtKB/Swiss-Prot
  B5A972 UniProtKB/Swiss-Prot
  Q7Z635 UniProtKB/Swiss-Prot
  Q9BTA5 UniProtKB/Swiss-Prot
  Q9BXP0 UniProtKB/Swiss-Prot