"KCCC/NGS Laboratory, Kuwait Cancer Control Center"[submitter] AND "EX - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195445	NM_207122.2(EXT2):c.28C>A (p.Arg10=)	EXT2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 304576	NM_207122.2(EXT2):c.264C>T (p.His88=)	EXT2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 304577	NM_207122.2(EXT2):c.519G>C (p.Ala173=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2 +3 more	GBenign/Likely benign
Select item 304582	NM_207122.2(EXT2):c.918C>T (p.Phe306=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 1 +2 more	GBenign
Select item 304584	NM_207122.2(EXT2):c.999T>C (p.Asp333=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2 +2 more	GBenign/Likely benign
Select item 304585	NM_207122.2(EXT2):c.1017T>C (p.Cys339=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2 +3 more	GBenign/Likely benign
Select item 198636	NM_207122.2(EXT2):c.1080-18T>A	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 1 +4 more	GBenign
Select item 304586	NM_207122.2(EXT2):c.1087G>A (p.Val363Met)	EXT2 (V363M +1 more)	Single nucleotide variant (missense variant)	EXT2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 263286	NM_207122.2(EXT2):c.1174-18G>T	EXT2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 304588	NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr)	EXT2 (I436T +1 more)	Single nucleotide variant (missense variant +1 more)	EXT2-related condition +2 more	GLikely benign
Select item 304591	NM_207122.2(EXT2):c.1761G>A (p.Thr587=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2 +1 more	GBenign/Likely benign
Select item 263290	NM_207122.2(EXT2):c.1936-41T>C	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 1 +3 more	GBenign