"Institute for Clinical Genetics, University Hospital TU Dresden, Univ - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1319284	NM_207122.2(EXT2):c.307A>G (p.Lys103Glu)	EXT2 (K103E +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 134208	NM_207122.2(EXT2):c.520A>C (p.Met174Leu)	EXT2 (M174L +1 more)	Single nucleotide variant (missense variant)	EXT2-related condition +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 304583	NM_207122.2(EXT2):c.965G>A (p.Arg322His)	EXT2 (R355H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1319816	NM_207122.2(EXT2):c.1179dup (p.Trp394fs)	EXT2 (W394fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
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 1089444	NM_207122.2(EXT2):c.1306-7C>G	EXT2, LOC126861201	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1319682	NM_207122.2(EXT2):c.1996G>T (p.Asp666Tyr)	EXT2 (D666Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance