C0398625[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 627133	NM_000312.4(PROC):c.76G>A (p.Val26Met)	PROC (V26M +3 more)	Single nucleotide variant (missense variant +2 more)	Reduced protein C activity	GLikely pathogenic
Select item 627308	NM_000312.4(PROC):c.421T>C (p.Ser141Pro)	PROC (S141P +8 more)	Single nucleotide variant (missense variant +1 more)	Reduced protein C activity	GLikely pathogenic
Select item 627072	NM_000312.4(PROC):c.440G>A (p.Cys147Tyr)	PROC (C147Y +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 627327	NM_000312.4(PROC):c.524G>A (p.Cys175Tyr)	PROC (C175Y +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity +1 more	GConflicting classifications of pathogenicity
Select item 627329	NM_000312.4(PROC):c.532G>C (p.Ala178Pro)	PROC (A178P +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity	GLikely pathogenic
Select item 161342	NM_000312.4(PROC):c.565C>T (p.Arg189Trp)	PROC (R189W +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 659	NM_000312.4(PROC):c.631C>T (p.Arg211Trp)	PROC (R211W +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity +3 more	GPathogenic/Likely pathogenic
Select item 669	NM_000312.4(PROC):c.659G>A (p.Arg220Gln)	PROC (R220Q +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +3 more	GPathogenic/Likely 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 627139	NM_000312.4(PROC):c.797-2A>T	PROC	Single nucleotide variant (splice acceptor variant)	Reduced protein C activity	GLikely pathogenic
Select item 627393	NM_000312.4(PROC):c.819G>T (p.Trp273Cys)	PROC (W273C +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity	GUncertain significance
Select item 627402	NM_000312.4(PROC):c.908T>G (p.Leu303Arg)	PROC (L303R +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity	GUncertain significance
Select item 627166	NM_000312.4(PROC):c.982C>T (p.Arg328Cys)	PROC (R328C +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 627190	NM_000312.4(PROC):c.1019C>A (p.Thr340Lys)	PROC (T340K +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity	GLikely pathogenic
Select item 627215	NM_000312.4(PROC):c.1163C>T (p.Ala388Val)	PROC (A388V +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GLikely pathogenic
Select item 161334	NM_000312.4(PROC):c.1201G>A (p.Asp401Asn)	PROC (D401N +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity +2 more	GPathogenic/Likely pathogenic
Select item 237632	NM_000312.4(PROC):c.1237A>G (p.Thr413Ala)	PROC (T413A +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 627227	NM_000312.4(PROC):c.1313T>C (p.Val438Ala)	PROC (V438A +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity	GUncertain significance
Select item 626988	NM_000312.4(PROC):c.1331G>A (p.Trp444Ter)	PROC (W444* +9 more)	Single nucleotide variant (nonsense)	Reduced protein C activity	GLikely pathogenic
Select item 626994	NM_000312.4(PROC):c.1368del (p.Lys457fs)	PROC (K457fs +9 more)	Deletion (frameshift variant)	Reduced protein C activity	GLikely pathogenic
Select item 626997	NM_000312.4(PROC):c.1378_1379dup (p.Pro461fs)	PROC (P461fs +9 more)	Duplication (frameshift variant)	Reduced protein C activity	GLikely pathogenic

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Items: 21