ClinVar Miner

List of variants studied for hemangioma by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

Included ClinVar conditions (36):

Aplastic anemia; Atrial septal defect; Pulmonary arterial hypertension; Hypotelorism; Hemangioma; Hepatomegaly; Abnormal pinna morphology; Downslanted palpebral fissures; Wide anterior fontanel; Low-set, posteriorly rotated ears; Dry skin; Relative macrocephaly; Lateral ventricle dilatation; Intracerebral periventricular calcifications; Aplasia of the ovary; Erythroid hypoplasia; Vaginal hydrocele
Arteriovenous malformation
Autistic behavior; Hemangioma; Eczematoid dermatitis; Macrotia; Arachnodactyly; High forehead; Intellectual disability, mild; Sandal gap; Mild global developmental delay; Narrow nasal base
Blepharophimosis; Ptosis; Hemangioma; Abnormal facial shape
Capillary hemangioma
Capillary infantile hemangioma
Capillary infantile hemangioma; Hereditary lymphedema type I; Congenital heart defects, multiple types, 7
Cavernous hemangioma
Cerebellar hemangioblastoma; Pancreatic cysts; Retinal capillary hemangioma; Spinal hemangioblastoma
Cerebral arteriovenous malformation
Cerebral arteriovenous malformation; Seizure; Hemiparesis; Cavernous hemangioma
Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation
Cerebrofacial arteriovenous metameric syndrome
Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormal nail morphology; Mitral regurgitation; Aortic regurgitation; Capillary hemangioma; 2-3 toe cutaneous syndactyly; Hypotonia; Patent ductus arteriosus
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Global developmental delay; Polymicrogyria; Macrocephaly; Capillary hemangioma
Global developmental delay; Posteriorly rotated ears; Anemia; Tapered finger; Hemangioma; Clinodactyly of the 5th finger; Delayed speech and language development; Abnormality of the dentition; Macrocephaly; Bruising susceptibility; Gastroesophageal reflux; Allergy; Heart murmur; Hypotonia; Asthma
Hemangioma
Hemangioma; Macrocephaly; Prominent occiput; 3-5 finger syndactyly; Prominent forehead; Severe global developmental delay; Hypotonia
Hepatic hemangioma
Kaposiform hemangioendothelioma; Congenital tufted angioma; Pyogenic granuloma
Low-set ears; Hemangioma; Generalized hypotonia
Pectus excavatum; Global developmental delay; Hemangioma; Synophrys; Narrow mouth; Dolichocephaly; Long eyelashes; Joint hypermobility; Frontal upsweep of hair; Narrow naris; Sydney crease; Hypotonia
Polycystic kidney disease; Hemangioma; Enlarged kidney
Primary intraosseous venous malformation
Pyogenic granuloma
Seizure; Hemangioma; Facial hemangioma
Seizure; Inguinal hernia; Hemangioma; Nephrocalcinosis; Stroke disorder
Skin hemangioma
Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangioma; Congenital talipes calcaneovalgus
Tufted angioma of skin
Vein of Galen aneurysmal malformation
Venous malformation
Verrucous hemangioma
Von Hippel-Lindau syndrome; Cerebellar hemangioblastoma; Papillary renal cell carcinoma type 1; Skin adenoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu)	rs748266278	0.00004
NM_000459.5(TEK):c.3314_3315delinsTGACCT (p.Thr1105fs)	rs2131267739
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met)	rs2103083622
NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly)	rs1727604042
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met)	rs2143631386
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs)	rs2112474795
NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser)	rs2116413948
NM_004985.5(KRAS):c.183A>T (p.Gln61His)	rs17851045
NM_004985.5(KRAS):c.197_223dup (p.Ala66_Thr74dup)	rs2141509708

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.