C2750804[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323255	NM_003573.2(LTBP4):c.76-1G>A	LTBP4	Single nucleotide variant (splice acceptor variant +1 more)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GPathogenic
Select item 1938102	NM_003573.2(LTBP4):c.239A>G (p.Glu80Gly)	LTBP4 (E80G +1 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance
Select item 1324689	NM_001042545.2(LTBP4):c.565del (p.Glu189fs)	LTBP4 (E189fs +2 more)	Deletion (frameshift variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GLikely pathogenic
Select item 2433538	NM_001042545.2(LTBP4):c.637T>C (p.Tyr213His)	LTBP4 (Y213H +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 2433539	NM_001042545.2(LTBP4):c.1183G>T (p.Gly395Cys)	LTBP4 (G395C +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 329306	NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys)	LTBP4 (R509C +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance

ClinVar