"Blueprint Genetics"[submitter] AND "COL10A1"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224419	NM_000493.4(COL10A1):c.2017T>C (p.Ser673Pro)	COL10A1, NT5DC1 (S673P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1224437	NM_000493.4(COL10A1):c.2010dup (p.Ser671fs)	COL10A1, NT5DC1 (S671fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1224366	NM_000493.4(COL10A1):c.1896C>G (p.Tyr632Ter)	COL10A1, NT5DC1 (Y632*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1224484	NM_000493.4(COL10A1):c.1823del (p.Thr608fs)	COL10A1, NT5DC1 (T608fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1224402	NM_000493.4(COL10A1):c.1790A>T (p.Tyr597Phe)	COL10A1, NT5DC1 (Y597F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224352	NM_000493.4(COL10A1):c.1756A>C (p.Thr586Pro)	COL10A1, NT5DC1 (T586P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1224395	NM_000493.4(COL10A1):c.1735_1739delinsACCCAAGGACCCAAGGACCCTT (p.Gln579fs)	COL10A1, NT5DC1 (Q579fs)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 355104	NM_000493.4(COL10A1):c.460G>A (p.Val154Met)	COL10A1, NT5DC1 (V154M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1224308	NM_000493.4(COL10A1):c.210_236del (p.Arg71_Pro79del)	COL10A1, NT5DC1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance