C2750804[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441765	NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val)	LOC130064472, LTBP4 (A2V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1031008	NM_001042545.2(LTBP4):c.1307-2A>G	LTBP4	Single nucleotide variant (splice acceptor variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GLikely pathogenic
Select item 329306	NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys)	LTBP4 (R509C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2582334	NM_001042545.2(LTBP4):c.1611G>C (p.Glu537Asp)	LTBP4 (E537D +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 1028629	NM_001042545.2(LTBP4):c.3446G>C (p.Ser1149Thr)	LTBP4 (S1149T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 451742	NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys)	LTBP4 (E1160K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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