Total 4 pathogenic variants reported for Sturge-Weber syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)	SNV Somatic	Chr9:77797577	Pathogenic/Likely pathogenic	Capillary malformation Sturge-Weber syndrome Sturge-Weber syndrome Capillary malformation Angioosteohypertrophic syndrome Segmental undergrowth associated with capillary malformation Hemangiomatosis Familial multiple nevi flammei Condition: not provided Melanoma	Criteria Provided Multiple Submitters No Conflicts	CA143805	rs_397514698	8 SubmittersRCV000043593 RCV000043592 RCV000533476 RCV001526638 RCV001705695 RCV001526543 RCV002294003 RCV002254275 RCV003221795
NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)	SNV Somatic	Chr9:77794572	Pathogenic	Melanoma Uveal melanoma Sturge-Weber syndrome	Criteria Provided Single Submitter	CA16602434	rs_121913492	2 SubmittersRCV000426416 RCV000436244 RCV004563306
NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)	SNV Somatic	Chr9:77794572	Pathogenic	Melanoma Abnormal cardiovascular system morphology Sturge-Weber syndrome	Criteria Provided Single Submitter	CA16602435	rs_121913492	3 SubmittersRCV000442822 RCV001327979 RCV003458165
NM_002072.5(GNAQ):c.143G>T (p.Gly48Val)	SNV Somatic	Chr9:77922339	Pathogenic/Likely pathogenic	Condition: not provided Sturge-Weber syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2118276763	2 SubmittersRCV002254468 RCV003458178