C0149871[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 529741	NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser)	SERPINC1 (P439S +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 18034	NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)	SERPINC1 (L131F +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 627247	NM_000488.4(SERPINC1):c.159C>A (p.Cys53Ter)	SERPINC1 (C53* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 627097	NM_000312.4(PROC):c.571G>C (p.Glu191Gln)	PROC (E191Q +9 more)	Single nucleotide variant (missense variant)	Deep venous thrombosis	GUncertain significance
Select item 627113	NM_000312.4(PROC):c.673T>G (p.Trp225Gly)	PROC (W225G +9 more)	Single nucleotide variant (missense variant)	Deep venous thrombosis	GUncertain significance
Select item 627365	NM_000312.4(PROC):c.715G>A (p.Gly239Arg)	PROC (G239R +9 more)	Single nucleotide variant (missense variant)	Deep venous thrombosis	GLikely pathogenic
Select item 675	NM_000312.4(PROC):c.793C>T (p.Leu265Phe)	PROC (L265F +9 more)	Single nucleotide variant (missense variant)	Deep venous thrombosis +2 more	GConflicting classifications of pathogenicity
Select item 568712	NM_000312.4(PROC):c.962C>T (p.Pro321Leu)	PROC (P321L +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 215991	NM_000313.4(PROS1):c.233C>T (p.Thr78Met)	PROS1 (T78M +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease +4 more	GConflicting classifications of pathogenicity
Select item 627330	NM_005141.5(FGB):c.534G>C (p.Lys178Asn)	FGB (K178N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 627150	NM_005141.5(FGB):c.853C>T (p.Arg285Cys)	FGB (R285C +3 more)	Single nucleotide variant (missense variant +1 more)	Deep venous thrombosis	GUncertain significance
Select item 13583	NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	PLG (K38E)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GConflicting classifications of pathogenicity
Select item 626986	NM_000930.5(PLAT):c.1271G>T (p.Ser424Ile)	PLAT (S424I +2 more)	Single nucleotide variant (missense variant)	Deep venous thrombosis	GUncertain significance
Select item 627396	NM_000930.5(PLAT):c.826C>T (p.Pro276Ser)	PLAT (P276S +2 more)	Single nucleotide variant (missense variant)	Pulmonary embolism +1 more	GUncertain significance
Select item 627233	NM_000185.4(SERPIND1):c.1409C>T (p.Thr470Ile)	PI4KA, SERPIND1 (T470I)	Single nucleotide variant (missense variant +1 more)	Deep venous thrombosis	GUncertain significance
Select item 627510	Single allele	ARVCF, COMT +24 more	Deletion	Deep venous thrombosis	GLikely pathogenic

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Items: 21