"Baylor Genetics"[submitter] AND "LOC126861201"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675203	NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)	EXT2, LOC126861201 (L444F +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 580003	NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)	EXT2, LOC126861201 (R498* +2 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 2675214	NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)	EXT2, LOC126861201 (R471W +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675192	NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)	EXT2, LOC126861201 (S483F +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675195	NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)	EXT2, LOC126861201 (L485P +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675197	NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)	EXT2, LOC126861201 (V488F +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2154521	NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)	EXT2, LOC126861201 (V498I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar