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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134207	NM_207122.2(EXT2):c.124A>G (p.Met42Val)	EXT2 (M42V +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 1 +3 more	GBenign/Likely benign
Select item 134209	NM_207122.2(EXT2):c.232C>G (p.Pro78Ala)	EXT2 (P111A +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134211	NM_207122.2(EXT2):c.260T>G (p.Met87Arg)	EXT2 (M120R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 134210	NM_207122.2(EXT2):c.423C>G (p.Asp141Glu)	EXT2 (D141E +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134208	NM_207122.2(EXT2):c.520A>C (p.Met174Leu)	EXT2 (M174L +1 more)	Single nucleotide variant (missense variant)	EXT2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 134212	NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)	EXT2 (S237L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 134213	NM_207122.2(EXT2):c.740C>A (p.Pro247Gln)	EXT2 (P247Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 134214	NM_207122.2(EXT2):c.896G>A (p.Arg299His)	EXT2 (R299H +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GBenign/Likely benign
Select item 134215	NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)	EXT2 (P341L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134217	NM_207122.2(EXT2):c.1110G>T (p.Met370Ile)	EXT2 (M370I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 134216	NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly)	EXT2 (S375G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 134219	NM_207122.2(EXT2):c.1173+14131G>A	EXT2 (R399K)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134218	NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)	EXT2 (R393Q +1 more)	Single nucleotide variant (missense variant +1 more)	EXT2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 134203	NM_207122.2(EXT2):c.1712A>G (p.His571Arg)	EXT2 (H571R +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 134204	NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)	EXT2 (T587M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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
Select item 134206	NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg)	EXT2 (G685R +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance