"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LTBP3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683154	NM_001130144.3(LTBP3):c.3148G>A (p.Val1050Met)	LOC121832793, LTBP3 (V1050M +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 2024374	NM_001130144.3(LTBP3):c.1196C>A (p.Pro399Gln)	LTBP3 (P282Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1960609	NM_001130144.3(LTBP3):c.1071C>T (p.Asn357=)	LTBP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 3380027	NM_001130144.3(LTBP3):c.757G>T (p.Ala253Ser)	LTBP3 (A136S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 464027	NM_001130144.3(LTBP3):c.457G>A (p.Gly153Ser)	LTBP3 (G153S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1767558	NM_001130144.3(LTBP3):c.127G>A (p.Gly43Arg)	LTBP3 (G43R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1392553	NM_001130144.3(LTBP3):c.89T>G (p.Leu30Arg)	LTBP3 (L30R)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome +2 more	GUncertain significance

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