"3billion"[submitter] AND "EXT1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572578	NM_000127.3(EXT1):c.1702_1703dup (p.Val569fs)	EXT1 (V569fs)	Microsatellite (frameshift variant)	Exostoses, multiple, type 1	GLikely pathogenic
Select item 265129	NM_000127.3(EXT1):c.1019G>A (p.Arg340His)	EXT1 (R340H)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +2 more	GPathogenic
Select item 2675162	NM_000127.3(EXT1):c.977A>G (p.Glu326Gly)	EXT1 (E326G)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GConflicting classifications of pathogenicity
Select item 998182	NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)	EXT1 (D291E)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +2 more	GConflicting classifications of pathogenicity
Select item 1526067	NM_000127.3(EXT1):c.611_614dup (p.Glu205fs)	EXT1 (E205fs)	Duplication (frameshift variant)	Exostoses, multiple, type 1	GLikely pathogenic
Select item 837149	NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)	EXT1 (Q2*)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 1 +2 more	GPathogenic

ClinVar