Total 20 pathogenic variants reported for CLOVES syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	SNV Germline/somatic	Chr3:179234297	Pathogenic	OVARIAN CANCER, EPITHELIAL, SOMATIC Breast adenocarcinoma Carcinoma of colon Hepatocellular carcinoma Non-small cell lung carcinoma Seborrheic keratosis Neoplasm Rosette-forming glioneuronal tumor Segmental undergrowth associated with mainly venous malformation with capillary component Segmental undergrowth associated with lymphatic malformation MACRODACTYLY, SOMATIC Congenital macrodactylia Breast carcinoma Klippel-Trenaunay-like-Syndrome Rare combined vascular malformation CLOVES syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC CLAPO syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gastric cancer PIK3CA-related disorder Condition: not provided Lip and oral cavity carcinoma Abnormal cardiovascular system morphology Megalencephaly-capillary malformation-polymicrogyria syndrome Rare venous malformation	Reviewed By Expert Panel	CA123326	rs_121913279	30 SubmittersRCV000014623 RCV000014622 RCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000438435 RCV000487449 RCV001705589 RCV001705590 RCV000709691 RCV001526648 RCV003128082 RCV003325939 RCV004527291 RCV000024621 RCV000154516 RCV000201231 RCV001728091 RCV001729349 RCV001730472 RCV001836707 RCV002508124 RCV004737153 RCV001092442 RCV001255686 RCV001327968 RCV001807727 RCV004527290
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Breast adenocarcinoma CLOVES syndrome PIK3CA related overgrowth syndrome Macrodactyly of toe Stroke disorder Cowden syndrome 1 CLAPO syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Ovarian neoplasm CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Condition: not provided Hemihypertrophy Cavernous lymphangioma Neoplasm Colorectal cancer Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA123328	rs_121913279	13 SubmittersRCV000014629 RCV000032905 RCV000201235 RCV000626894 RCV000987367 RCV000709692 RCV001253236 RCV000422323 RCV001728092 RCV002254265 RCV001526597 RCV004527292 RCV004668728 RCV001807728 RCV004649064
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	SNV Germline/somatic	Chr3:179218303	Pathogenic/Likely pathogenic	Carcinoma of colon Seborrheic keratosis OVARIAN CANCER, EPITHELIAL, SOMATIC Breast adenocarcinoma Sarcoma CLOVES syndrome PIK3CA related overgrowth syndrome Gallbladder cancer Eccrine angiomatous hamartoma PIK3CA overgrowth syndrome Non-small cell lung carcinoma Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided Abnormal cardiovascular system morphology Cerebrofacial Vascular Metameric Syndrome (CVMS) Gastric cancer Angioosteohypertrophic syndrome Rare venous malformation Rare combined vascular malformation Ovarian neoplasm Segmental undergrowth associated with lymphatic malformation HEMIFACIAL MYOHYPERPLASIA, SOMATIC Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA123334	rs_104886003	19 SubmittersRCV000014633 RCV000014636 RCV000014632 RCV000014631 RCV000119356 RCV001262721 RCV001290591 RCV001374447 RCV001786329 RCV004698419 RCV000038671 RCV000055930 RCV001092440 RCV001327963 RCV001730473 RCV002508125 RCV004527293 RCV004527294 RCV004527295 RCV000422210 RCV001705591 RCV003764575 RCV004668729
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	SNV Germline/somatic	Chr3:179218294	Pathogenic	CLOVES syndrome Ovarian neoplasm Non-small cell lung carcinoma Condition: not provided CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Abnormal cardiovascular system morphology Cowden syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC CLAPO syndrome PIK3CA-related overgrowth PIK3CA-related disorder Megalencephaly-capillary malformation-polymicrogyria syndrome Lip and oral cavity carcinoma Cerebrofacial Vascular Metameric Syndrome (CVMS) Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Rare venous malformation PIK3CA related overgrowth syndrome Neoplasm	Reviewed By Expert Panel	CA333572	rs_121913273	18 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV001728093 RCV001327962 RCV002513230 RCV003764635 RCV000709693 RCV003987334 RCV004532404 RCV004698785 RCV001255687 RCV001730477 RCV001836714 RCV004527296 RCV003458190 RCV004668742
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	SNV Germline/somatic	Chr3:179210192	Pathogenic	CLOVES syndrome CLAPO syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome Rare combined vascular malformation Cowden syndrome Segmental undergrowth associated with lymphatic malformation Condition: not provided Abnormal cardiovascular system morphology Capillary malformation Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA180900	rs_121913272	15 SubmittersRCV000024623 RCV000709694 RCV000154512 RCV000201232 RCV004527297 RCV003588566 RCV001705599 RCV002054475 RCV001327960 RCV001526612 RCV004668743
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	SNV Germline/somatic	Chr3:179230077	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided Abnormal cardiovascular system morphology Cowden syndrome 5 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Cowden syndrome Angioosteohypertrophic syndrome Abnormal cerebral morphology PIK3CA related overgrowth syndrome CLOVES syndrome PIK3CA-related disorder Inborn genetic diseases	Reviewed By Expert Panel	CA130467	rs_587776932	19 SubmittersRCV000032907 RCV000414672 RCV001327966 RCV001594376 RCV001836717 RCV001852661 RCV002254272 RCV002274888 RCV003233078 RCV004798751 RCV004737167 RCV004955261
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	SNV Germline/somatic	Chr3:179234296	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome Non-small cell lung carcinoma Cowden syndrome 13 conditions Condition: not provided Segmental undergrowth associated with mainly venous malformation with capillary component CLOVES syndrome PIK3CA related overgrowth syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC PIK3CA overgrowth syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA130471	rs_121913281	13 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732 RCV004698336 RCV004955262
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)	SNV Germline/somatic	Chr3:179210186	Pathogenic	not specified CLOVES syndrome PIK3CA related overgrowth syndrome PIK3CA-related disorder Neoplasm	Criteria Provided Single Submitter	CA136365	rs_397517199	5 SubmittersRCV000038669 RCV001256198 RCV003458192 RCV004534818 RCV004668761
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)	SNV Germline/somatic	Chr3:179234230	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma CLOVES syndrome PIK3CA related overgrowth syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA136374	rs_397517202	5 SubmittersRCV000038673 RCV001526503 RCV003458194 RCV002254274
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	SNV Germline/somatic	Chr3:179199088	Pathogenic	Ovarian neoplasm Cowden syndrome Condition: not provided Neoplasm PIK3CA related overgrowth syndrome Abnormal cerebral morphology CLOVES syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Cowden syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA16602516	rs_121913287	10 SubmittersRCV000785354 RCV001224952 RCV001562650 RCV004668930 RCV002274026 RCV002275002 RCV004767253 RCV003225067 RCV003995942
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	SNV Germline/somatic	Chr3:179210291	Pathogenic	Ovarian neoplasm Megalencephaly-capillary malformation-polymicrogyria syndrome CLOVES syndrome PIK3CA related overgrowth syndrome Abnormal cardiovascular system morphology Condition: not provided PIK3CA-related disorder Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602904	rs_1057519925	11 SubmittersRCV000785580 RCV000991209 RCV001526693 RCV002472374 RCV001327961 RCV001775789 RCV002244865 RCV001861479
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	SNV Germline/somatic	Chr3:179199066	Pathogenic	CLOVES syndrome Condition: not provided Megalencephaly-capillary malformation-polymicrogyria syndrome Abnormal cardiovascular system morphology PIK3CA related overgrowth syndrome Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602912	rs_1057519929	7 SubmittersRCV001526599 RCV001837893 RCV001542570 RCV001327958 RCV003458199 RCV002524695
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)	SNV Germline/somatic	Chr3:179199142	Conflicting classifications of pathogenicity	Cowden syndrome CLOVES syndrome PIK3CA related overgrowth syndrome	Criteria Provided Conflicting Classifications	CA16602913	rs_1057519930	3 SubmittersRCV000631208 RCV001526649 RCV004719813
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys)	SNV Somatic	Chr19:3115014	Pathogenic	Lobular capillary hemangiomas CLOVES syndrome Capillary malformation Segmental undergrowth associated with capillary malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555702147	5 SubmittersRCV000662311 RCV001526637 RCV001526569 RCV001706699 RCV002254302
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)	SNV Somatic	Chr3:179204575	Pathogenic	Klippel-TrÃ©naunay syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Capillary malformation CLOVES syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1724507777	4 SubmittersRCV001265073 RCV003225150 RCV003485684 RCV001526537
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu)	SNV Germline/somatic	Chr5:68295278	Likely pathogenic	Vascular Malformations and Overgrowth CLOVES syndrome	Criteria Provided Single Submitter		rs_1747645807	2 SubmittersRCV001290353 RCV002226776
NM_006218.4(PIK3CA):c.813+2T>C	SNV Germline	Chr3:179201542	Likely pathogenic	CLOVES syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003990433