C0339573[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7949	NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	MYOC (Q368*)	Single nucleotide variant (nonsense)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 7744	NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)	CYP1B1 (Y81N)	Single nucleotide variant (missense variant)	Congenital glaucoma +5 more	GConflicting classifications of pathogenicity
Select item 7099	NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)	LOC108903148, OPTN (M98K)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +5 more	GBenign/Likely benign
Select item 647662	NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)	OPTN (D128fs)	Insertion (frameshift variant)	not provided +4 more	GPathogenic
Select item 992570	NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln)	OPTN (E516Q)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 7098	NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)	OPTN (R545Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity

ClinVar