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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 361653	NM_000127.3(EXT1):c.1959G>A (p.Glu653=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis +2 more	GBenign/Likely benign
Select item 361654	NM_000127.3(EXT1):c.1782G>A (p.Ala594=)	EXT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 361655	NM_000127.3(EXT1):c.1779C>T (p.Pro593=)	EXT1	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 1 +1 more	GBenign/Likely benign
Select item 255175	NM_000127.3(EXT1):c.1761G>A (p.Glu587=)	EXT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 255174	NM_000127.3(EXT1):c.1633-26C>A	EXT1	Single nucleotide variant (intron variant)	Exostoses, multiple, type 1 +1 more	GBenign
Select item 255173	NM_000127.3(EXT1):c.1536+7G>A	EXT1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 255172	NM_000127.3(EXT1):c.1431C>T (p.Pro477=)	EXT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 134200	NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)	EXT1 (V454I)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 255171	NM_000127.3(EXT1):c.1284+25G>A	EXT1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 196215	NM_000127.3(EXT1):c.1065C>T (p.Cys355=)	EXT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 255170	NM_000127.3(EXT1):c.117A>G (p.Glu39=)	EXT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 255169	NM_000127.3(EXT1):c.114A>G (p.Glu38=)	EXT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign