"ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 972257	NM_000312.4(PROC):c.41G>A (p.Trp14Ter)	PROC (W75* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1703786	NM_000312.4(PROC):c.70+12C>T	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
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 696503	NM_000312.4(PROC):c.263-4G>A	PROC	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 1703783	NM_000312.4(PROC):c.338_346del (p.Asp113_Ile115del)	PROC	Deletion (inframe_deletion)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 161341	NM_000312.4(PROC):c.340G>C (p.Gly114Arg)	PROC (G114R +5 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal recessive +1 more	GUncertain significance
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 331103	NM_000312.4(PROC):c.399C>T (p.Arg133=)	PROC (A185V)	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GBenign/Likely benign
Select item 627072	NM_000312.4(PROC):c.440G>A (p.Cys147Tyr)	PROC (C147Y +8 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GLikely pathogenic
Select item 1676216	NM_000312.4(PROC):c.472C>T (p.Arg158Trp)	PROC (R139W +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 1703787	NM_000312.4(PROC):c.497A>G (p.Tyr166Cys)	PROC (Y147C +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 1684350	NM_000312.4(PROC):c.508G>T (p.Asp170Tyr)	PROC (D151Y +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity	GLikely pathogenic
Select item 1676215	NM_000312.4(PROC):c.547T>C (p.Cys183Arg)	PROC (C164R +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1676214	NM_000312.4(PROC):c.638T>C (p.Ile213Thr)	PROC (I194T +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1684349	NM_000312.4(PROC):c.659G>C (p.Arg220Pro)	PROC (R201P +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 673	NM_000312.4(PROC):c.678+9C>T	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1676213	NM_000312.4(PROC):c.703A>C (p.Lys235Gln)	PROC (K216Q +9 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1684348	NM_000312.4(PROC):c.752C>A (p.Ala251Glu)	PROC (A232E +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity	GLikely pathogenic
Select item 1684347	NM_000312.4(PROC):c.759C>A (p.His253Gln)	PROC (H234Q +9 more)	Single nucleotide variant (missense variant)	Reduced protein C activity	GLikely pathogenic
Select item 675	NM_000312.4(PROC):c.793C>T (p.Leu265Phe)	PROC (L265F +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 536970	NM_000312.4(PROC):c.811C>T (p.Arg271Trp)	PROC (R271W +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 671	NM_000312.4(PROC):c.814C>T (p.Arg272Cys)	PROC (R272C +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 1684346	NM_000312.4(PROC):c.848AGG[1] (p.Glu284del)	PROC (E265del +9 more)	Microsatellite (inframe_deletion)	Reduced protein C activity	GUncertain significance
Select item 662	NM_000312.4(PROC):c.925G>A (p.Ala309Thr)	PROC (A309T +9 more)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital protein C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 579309	NM_000312.4(PROC):c.1019C>T (p.Thr340Met)	PROC (T340M +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2572142	NM_000312.4(PROC):c.1048A>G (p.Lys350Glu)	PROC (K331E +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1677267	NM_000312.4(PROC):c.1084T>A (p.Phe362Ile)	PROC (F343I +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1067044	NM_000312.4(PROC):c.1106C>T (p.Pro369Leu)	PROC (P350L +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2572123	NM_000312.4(PROC):c.1222G>A (p.Ala408Thr)	PROC (A389T +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1703785	NM_000312.4(PROC):c.1240T>C (p.Trp414Arg)	PROC (W395R +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance
Select item 948076	NM_000312.4(PROC):c.1333A>C (p.Ile445Leu)	PROC (I426L +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance

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Items: 32