Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACVRL1 gene ACVRL1 Expert Review;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2 (600376) 21378382 False 3 100;0;0 1.14 True ENSG00000139567 ENSG00000139567 HGNC:175 AKT1 gene AKT1 Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other Cowden syndrome 6 615109;Proteus syndrome, somatic 176920 23246288 False 3 100;0;0 1.14 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142208 ENSG00000142208 HGNC:391 AKT3 gene AKT3 Expert Review;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937) Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 False 3 100;0;0 1.14 True Other ENSG00000117020 ENSG00000117020 HGNC:393 BRAF gene BRAF Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other Sporadic vascular malformations 29316280;30544177;29461977 False 3 100;0;0 1.14 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 ENG gene ENG Expert Review;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2 (600376) 21378382 False 3 100;0;0 1.14 True ENSG00000106991 ENSG00000106991 HGNC:3349 GJA4 gene GJA4 Expert Review Green;Literature Vascular Malformations_Somatic Cardiovascular disorders Other Cavernous hemangioma https://doi.org/10.1016/j.xhgg.2021.100028 False 3 100;0;0 1.14 False Other ENSG00000187513 ENSG00000187513 HGNC:4278 GLMN gene GLMN Expert Review;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomuvenous malformations (138000) 11845407 False 3 100;0;0 1.14 True ENSG00000174842 ENSG00000174842 HGNC:14373 GNA11 gene GNA11 Expert list;Expert Review Green;Royal Melbourne Hospital Vascular Malformations_Somatic Cardiovascular disorders Other Somatic hemangioma;Phacomatosis pigmentovascularis, somatic 30677207 False 3 100;0;0 1.14 True Other ENSG00000088256 ENSG00000088256 HGNC:4379 GNA14 gene GNA14 Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other Tufted angioma;vascular tumours;Anastomosing hemangioma 31423605;31707589;27476652 False 3 100;0;0 1.14 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000156049 ENSG00000156049 HGNC:4382 GNAQ gene GNAQ Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other Sturge-Weber syndrome, somatic, mosaic 185300;Capillary malformations, congenital, 1, somatic, mosaic 163000;Phacomatosis pigmentovascularis 30920161 False 3 100;0;0 1.14 True ENSG00000156052 ENSG00000156052 HGNC:4390 HRAS gene HRAS Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other Vascular malformation/overgrowth syndromes;Extracranial arteriovenous malformations 31160609;31637524;30208313 False 3 100;0;0 1.14 True Other ENSG00000174775 ENSG00000174775 HGNC:5173 KRAS gene KRAS Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other Arteriovenous malformation of the brain, somatic 108010;Vascular malformation 30677207;30544177;31160609 False 3 100;0;0 1.14 True Other ENSG00000133703 ENSG00000133703 HGNC:6407 MAP2K1 gene MAP2K1 Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other Arteriovenous malformation;Intramuscular fast-flow vascular anomaly 31486960;28190454;29461977 False 3 100;0;0 1.14 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169032 ENSG00000169032 HGNC:6840 MAP3K3 gene MAP3K3 Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other Verrucous venous malformation;Cerebral cavernous malformations 5, MIM# 621032 10700190;25728774;33729480;35355835;33891857;36995941 False 3 100;0;0 1.14 True ENSG00000198909 ENSG00000198909 HGNC:6855 NRAS gene NRAS Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other Kaposiform lymphangiomatosis;Sporadic vascular malformation 30542204;29461977 False 3 100;0;0 1.14 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000213281 ENSG00000213281 HGNC:7989 PIK3CA gene PIK3CA Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other Megalencephaly-capillary malformation (MCAP) syndrome;Cowden syndrome 5 615108 22729224;23246288 False 3 100;0;0 1.14 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R1 gene PIK3R1 Expert list;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders Other capillary malformation MONDO:0016231, PIK3R1-related 29174369;34040190;37641480;38431221 False 3 100;0;0 1.14 True ENSG00000145675 ENSG00000145675 HGNC:8979 RASA1 gene RASA1 Expert Review;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 1 (608354) 31300548;30635911 False 3 100;0;0 1.14 True ENSG00000145715 ENSG00000145715 HGNC:9871 TEK gene TEK Expert Review;Expert Review Green Vascular Malformations_Somatic Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venous malformations, multiple cutaneous and mucosal (600195);Blue rubber bleb naevus syndrome;Sporadic multifocal vascular malformations 27519652 False 3 100;0;0 1.14 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000120156 ENSG00000120156 HGNC:11724 EPHB4 gene EPHB4 Expert Review Amber;Other Vascular Malformations_Somatic Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 31300548;30760892 False 2 0;100;0 1.14 True ENSG00000196411 ENSG00000196411 HGNC:3395 MET gene MET Expert Review Amber;Literature Vascular Malformations_Somatic Cardiovascular disorders Other lymphovenous malformation;overgrowth PMID: 32858245 False 2 0;100;0 1.14 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105976 ENSG00000105976 HGNC:7029 MTOR gene MTOR Expert list;Expert Review Amber Vascular Malformations_Somatic Cardiovascular disorders Other Smith-Kingsmore syndrome 616638;Focal cortical dysplasia, type II, somatic 607341 29174369;28892148 False 2 0;100;0 1.14 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198793 ENSG00000198793 HGNC:3942 SOS1 gene SOS1 Expert list;Expert Review Amber Vascular Malformations_Somatic Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4 610733 29907801 False 2 0;0;100 1.14 True ENSG00000115904 ENSG00000115904 HGNC:11187