Related gene-specific medical variations for Gene (Select 4053) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065137	NM_000428.3(LTBP2):c.565+1G>A	LTBP2	Single nucleotide variant (splice donor variant)	Glaucoma 3, primary congenital, D	GLikely pathogenic
Select item 3064732	NM_000428.3(LTBP2):c.1395G>T (p.Gln465His)	LTBP2 (Q465H)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D	GUncertain significance
Select item 126953	NM_000428.3(LTBP2):c.1999A>C (p.Ile667Leu)	LTBP2 (I667L)	Single nucleotide variant (missense variant)	Pseudoexfoliation glaucoma	GLikely pathogenic
Select item 126952	NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter)	LTBP2 (R548*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 126950	NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln)	LTBP2 (R495Q)	Single nucleotide variant (missense variant)	Primary open angle glaucoma	GLikely pathogenic
Select item 126948	NM_000428.3(LTBP2):c.4720+7G>A	LTBP2	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance

ClinVar