"Institute of Human Genetics, University of Ulm"[submitter] AND "LTBP3 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1722765	NM_001130144.3(LTBP3):c.3629-1G>T	LTBP3	Single nucleotide variant (splice acceptor variant)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
Select item 204496	NM_001130144.3(LTBP3):c.2216del (p.Gly739fs)	LOC130006030, LTBP3 (G622fs +1 more)	Deletion (frameshift variant)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
Select item 523637	NM_001130144.3(LTBP3):c.132del (p.Pro45fs)	LTBP3 (P45fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic

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ClinVar