ClinVar Miner

List of variants reported as pathogenic for hemangioma by OMIM

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)	rs34255532	0.00275
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser)	rs121917766	0.00003
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	rs121913529	0.00001
NM_133171.5(ELMO2):c.1065+1G>A	rs768410753	0.00001
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)	rs121913529
NM_133171.5(ELMO2):c.1802-1G>C	rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs)	rs886037919

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