C4225248[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 788070	NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)	EXT2 (R128W +1 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1441831	NM_207122.2(EXT2):c.667C>T (p.Arg223Trp)	EXT2 (R223W +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +2 more	GUncertain significance
Select item 970087	NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)	EXT2 (R393W +1 more)	Single nucleotide variant (missense variant +1 more)	Seizures-scoliosis-macrocephaly syndrome +2 more	GUncertain significance
Select item 1319798	NM_207122.2(EXT2):c.1305+2T>C	EXT2	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 838313	NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	EXT2 (R682* +2 more)	Single nucleotide variant (nonsense)	Seizures-scoliosis-macrocephaly syndrome +2 more	GPathogenic/Likely pathogenic

ClinVar