C1562061[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7558	NM_000428.3(LTBP2):c.5446dup (p.His1816fs)	LTBP2 (H1816fs)	Duplication (frameshift variant)	Microspherophakia	GPathogenic
Select item 31629	NM_000428.3(LTBP2):c.4855C>T (p.Gln1619Ter)	LTBP2 (Q1619*)	Single nucleotide variant (nonsense)	Microspherophakia	GPathogenic
Select item 31630	NM_000428.3(LTBP2):c.4313G>A (p.Cys1438Tyr)	LTBP2 (C1438Y)	Single nucleotide variant (missense variant)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +1 more	GLikely pathogenic
Select item 31627	NM_000428.3(LTBP2):c.1796dup (p.Val600fs)	LTBP2 (V600fs)	Duplication (frameshift variant)	Microspherophakia	GPathogenic
Select item 31628	NM_000428.3(LTBP2):c.1012del (p.Ser338fs)	LTBP2 (S338fs)	Deletion (frameshift variant)	Microspherophakia	GPathogenic
Select item 7554	NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter)	LTBP2 (R299*)	Single nucleotide variant (nonsense)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +1 more	GPathogenic

ClinVar