"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126860960" - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 300746	NM_002658.6(PLAU):c.308C>T (p.Thr103Met)	C10orf55, LOC126860960 +1 more (T103M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder	GBenign
Select item 300747	NM_002658.6(PLAU):c.316G>C (p.Ala106Pro)	C10orf55, LOC126860960 +1 more (A106P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder	GUncertain significance
Select item 300748	NM_002658.6(PLAU):c.368+6G>C	C10orf55, LOC126860960 +1 more	Single nucleotide variant (intron variant)	Quebec platelet disorder	GUncertain significance
Select item 878607	NM_002658.6(PLAU):c.445C>T (p.His149Tyr)	C10orf55, LOC126860960 +1 more (H132Y +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 878608	NM_002658.6(PLAU):c.453C>T (p.Cys151=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	Quebec platelet disorder	GLikely benign
Select item 878609	NM_002658.6(PLAU):c.559A>G (p.Ile187Val)	C10orf55, LOC126860960 +1 more (I187V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 300750	NM_002658.6(PLAU):c.581C>T (p.Ala194Val)	C10orf55, LOC126860960 +1 more (A177V +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 300749	NM_002658.6(PLAU):c.581C>A (p.Ala194Glu)	C10orf55, LOC126860960 +1 more (A177E +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GUncertain significance
Select item 300751	NM_002658.6(PLAU):c.602G>T (p.Arg201Leu)	C10orf55, LOC126860960 +1 more (R184L +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 300752	NM_002658.6(PLAU):c.681-7C>T	C10orf55, LOC126860960 +1 more	Single nucleotide variant (intron variant)	Quebec platelet disorder +1 more	GBenign
Select item 300753	NM_002658.6(PLAU):c.691A>C (p.Lys231Gln)	C10orf55, LOC126860960 +1 more (K214Q +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 300754	NM_002658.6(PLAU):c.706A>G (p.Ile236Val)	C10orf55, LOC126860960 +1 more (I236V +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 879208	NM_002658.6(PLAU):c.735C>A (p.Asn245Lys)	C10orf55, LOC126860960 +1 more (N159K +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GUncertain significance
Select item 300755	NM_002658.6(PLAU):c.750G>C (p.Gly250=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	Quebec platelet disorder	GUncertain significance
Select item 300756	NM_002658.6(PLAU):c.822C>T (p.Asn274=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign