C0040038[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627349	NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)	F5 (G2060D)	Single nucleotide variant (missense variant)	Factor V deficiency +2 more	GConflicting classifications of pathogenicity
Select item 627078	NM_000130.5(F5):c.4862G>A (p.Arg1621Gln)	F5 (R1621Q)	Single nucleotide variant (missense variant)	Thromboembolism	GUncertain significance
Select item 627209	NM_000130.5(F5):c.1128G>T (p.Arg376Ser)	F5 (R376S)	Single nucleotide variant (missense variant)	Thromboembolism +6 more	GUncertain significance
Select item 627404	NM_000130.5(F5):c.911G>A (p.Gly304Glu)	F5 (G304E)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +1 more	GLikely pathogenic
Select item 18012	NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)	SERPINC1 (V57E)	Single nucleotide variant (missense variant +1 more)	Deep venous thrombosis +3 more	GConflicting classifications of pathogenicity
Select item 161333	NM_000312.4(PROC):c.125G>A (p.Arg42His)	PROC (R42H +5 more)	Single nucleotide variant (missense variant)	Deep venous thrombosis +2 more	GLikely pathogenic
Select item 627040	NM_000312.4(PROC):c.238-2A>G	PROC	Single nucleotide variant (splice acceptor variant)	Thromboembolism	GLikely pathogenic
Select item 469122	NM_000312.4(PROC):c.352T>C (p.Phe118Leu)	PROC (F118L +5 more)	Single nucleotide variant (missense variant +1 more)	Deep venous thrombosis +2 more	GLikely pathogenic
Select item 627207	NM_000312.4(PROC):c.386G>A (p.Arg129His)	PROC (R129H +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 671	NM_000312.4(PROC):c.814C>T (p.Arg272Cys)	PROC (R272C +9 more)	Single nucleotide variant (missense variant)	Thromboembolism +2 more	GPathogenic/Likely pathogenic
Select item 627219	NM_000313.4(PROS1):c.128A>G (p.Asn43Ser)	PROS1 (N43S +1 more)	Single nucleotide variant (missense variant)	Thromboembolism +1 more	GUncertain significance
Select item 627134	NM_000313.4(PROS1):c.77-1346A>G	PROS1 (I41V)	Single nucleotide variant (missense variant +1 more)	Thromboembolism	GUncertain significance
Select item 627074	NM_021870.3(FGG):c.447C>A (p.Asn149Lys)	FGG (N149K)	Single nucleotide variant (missense variant)	Thromboembolism	GUncertain significance
Select item 627266	NM_021870.3(FGG):c.185T>C (p.Val62Ala)	FGG (V62A)	Single nucleotide variant (missense variant)	Thromboembolism	GUncertain significance