"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 771904	NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala)	LTBP2 (V1590A)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GConflicting classifications of pathogenicity
Select item 314284	NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser)	LTBP2 (G1088S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 256098	NM_000428.3(LTBP2):c.2788+13C>T	LTBP2	Single nucleotide variant (intron variant)	Glaucoma 3, primary congenital, D +3 more	GBenign
Select item 1174683	NM_000428.3(LTBP2):c.2502T>C (p.Thr834=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 256097	NM_000428.3(LTBP2):c.2406T>C (p.Thr802=)	LTBP2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 126951	NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile)	LTBP2 (S518I)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +2 more	GBenign/Likely benign

ClinVar