"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7735	NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	CYP1B1 (E387K)	Single nucleotide variant (missense variant)	Congenital glaucoma +6 more	GPathogenic/Likely pathogenic
Select item 7739	NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	CYP1B1 (R368H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 282564	NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)	CYP1B1 (R355fs)	Deletion (frameshift variant)	not provided +6 more	GPathogenic
Select item 402578	NM_000104.4(CYP1B1):c.503G>A (p.Gly168Asp)	CYP1B1 (G168D)	Single nucleotide variant (missense variant)	Glaucoma 3A +3 more	GUncertain significance
Select item 7737	NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)	CYP1B1 (W57*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 402579	NM_000104.4(CYP1B1):c.16A>G (p.Ser6Gly)	CYP1B1 (S6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar