"ITMI"[submitter] AND "EXT1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134202	NM_000127.3(EXT1):c.1457C>T (p.Ala486Val)	EXT1 (A486V)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GBenign
Select item 134201	NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg)	EXT1 (P477R)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GLikely benign
Select item 134200	NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)	EXT1 (V454I)	Single nucleotide variant (missense variant)	Langer-Giedion syndrome +2 more	GConflicting classifications of pathogenicity
Select item 134199	NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)	EXT1 (V379I)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 134198	NM_000127.3(EXT1):c.382G>T (p.Ala128Ser)	EXT1 (A128S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134197	NM_000127.3(EXT1):c.122G>A (p.Ser41Asn)	EXT1 (S41N)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance

ClinVar