"Institute of Human Genetics, University Hospital of Duesseldorf"[subm - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265131	NM_000127.3(EXT1):c.1469del (p.Leu490fs)	EXT1 (L490fs)	Deletion (frameshift variant)	Multiple congenital exostosis +2 more	GPathogenic
Select item 2584734	NM_000127.3(EXT1):c.1049_1056+1del	EXT1	Deletion (splice donor variant)	Exostoses, multiple, type 1	GPathogenic
Select item 2584741	NM_000127.3(EXT1):c.651_665delinsTT (p.Lys218fs)	EXT1 (K218fs)	Indel (frameshift variant)	Exostoses, multiple, type 1	GPathogenic

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