"OMIM"[submitter] AND "EXT2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304572	NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)	EXT2 (S37L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 218894	NM_207122.1(EXT2):c.[260T>G;283C>T]	EXT2 (M120R +3 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome	GPathogenic
Select item 2471	NM_207122.2(EXT2):c.454_457del (p.Val154fs)	EXT2 (V187fs +1 more)	Microsatellite (frameshift variant)	EXT2-related disorder +1 more	GPathogenic
Select item 2472	NM_207122.2(EXT2):c.514C>T (p.Gln172Ter)	EXT2 (Q172* +1 more)	Single nucleotide variant (nonsense)	Seizures-scoliosis-macrocephaly syndrome +3 more	GPathogenic
Select item 2475	NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter)	EXT2 (Y222* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 2474	NM_207122.2(EXT2):c.679G>A (p.Asp227Asn)	EXT2 (D227N +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +2 more	GPathogenic
Select item 2477	NM_207122.2(EXT2):c.744-2A>C	EXT2	Single nucleotide variant (splice acceptor variant)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 2476	NM_207122.2(EXT2):c.772C>T (p.Gln258Ter)	EXT2 (Q258* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2	GPathogenic
Select item 983551	NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)	EXT2 (N288S +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 547989	NM_207122.2(EXT2):c.1019T>A (p.Val340Asp)	EXT2 (V340D +1 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome +1 more	GUncertain significance
Select item 983552	NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu)	EXT2 (P351L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2473	NM_207122.2(EXT2):c.1305+1G>A	EXT2	Single nucleotide variant (splice donor variant)	Exostoses, multiple, type 2	GPathogenic
Select item 638619	NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys)	EXT2 (Y608C +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 134205	NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)	EXT2 (T639M +2 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome +1 more	GConflicting classifications of pathogenicity