C4310623[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166969	NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)	LOC128772254, CYP1B1 (N453S)	Single nucleotide variant (missense variant)	Glaucoma 3A +5 more	GBenign/Likely benign
Select item 166970	NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +5 more	GBenign
Select item 166971	NM_000104.4(CYP1B1):c.1294= (p.Leu432=)	CYP1B1, LOC128772254	Single nucleotide variant (no sequence alteration)	not provided +4 more	GBenign/Likely benign
Select item 92437	NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser)	CYP1B1 (A119S)	Single nucleotide variant (missense variant)	Glaucoma 3A +5 more	GBenign/Likely benign
Select item 7730	NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	CYP1B1 (G61E)	Single nucleotide variant (missense variant)	Congenital glaucoma +5 more	GPathogenic
Select item 92436	NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly)	CYP1B1 (R48G)	Single nucleotide variant (missense variant)	Glaucoma 3A +4 more	GBenign/Likely benign
Select item 166974	NM_000104.4(CYP1B1):c.-1-12C>T	CYP1B1	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +4 more	GBenign

ClinVar