Total 7 pathogenic variants reported for Uveal melanoma

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.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>C (p.Gln209Pro)	SNV Somatic	Chr9:77794572	Pathogenic/Likely pathogenic	Melanoma Uveal melanoma	No Assertion Criteria Provided	CA16602436	rs_121913492	1 SubmittersRCV000425312 RCV000436033
NM_002067.5(GNA11):c.626A>C (p.Gln209Pro)	SNV Somatic	Chr19:3118944	Pathogenic/Likely pathogenic	Melanoma Uveal melanoma	No Assertion Criteria Provided	CA16602474	rs_1057519742	1 SubmittersRCV000425941 RCV000432719
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu)	SNV Somatic	Chr19:3118944	Pathogenic/Likely pathogenic	Melanoma Uveal melanoma Malignant melanoma of skin Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA16602475	rs_1057519742	3 SubmittersRCV000425425 RCV000437415 RCV000444127 RCV002254297 RCV003128401
NM_004656.4(BAP1):c.932-151G>A	SNV Germline	Chr3:52405445	Conflicting classifications of pathogenicity	Uveal melanoma BAP1-related tumor predisposition syndrome	Criteria Provided Conflicting Classifications		rs_1705120040	2 SubmittersRCV002272729 RCV003464427