ClinVar for MedGen (Select 394120) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693822	NM_000312.4(PROC):c.505G>T (p.Gly169Trp)	PROC (G150W +9 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1676213	NM_000312.4(PROC):c.703A>C (p.Lys235Gln)	PROC (K216Q +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1482679	NM_000312.4(PROC):c.881G>A (p.Ser294Asn)	PROC (S315N +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive +1 more	GUncertain significance
Select item 1455313	NM_000312.4(PROC):c.303C>A (p.Cys101Ter)	PROC (A153E +6 more)	Single nucleotide variant (nonsense +1 more)	Thrombophilia due to protein C deficiency, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 1419183	NM_000312.4(PROC):c.372C>G (p.Ser124Arg)	PROC (S124R +6 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance
Select item 1408925	NM_000312.4(PROC):c.263-28T>G	PROC	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 1394296	NM_000312.4(PROC):c.541T>G (p.Phe181Val)	PROC (F202V +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 1260347	NM_000312.4(PROC):c.535+44A>G	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GBenign
Select item 1074000	NM_000312.4(PROC):c.520C>T (p.Gln174Ter)	PROC (Q155* +9 more)	Single nucleotide variant (nonsense)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GPathogenic
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 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
Select item 932369	NM_000312.4(PROC):c.124C>T (p.Arg42Cys)	PROC (R63C +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 893934	NM_000312.4(PROC):c.1241G>C (p.Trp414Ser)	PROC (W412S +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance
Select item 839161	NM_000312.4(PROC):c.595C>T (p.Arg199Ter)	PROC (R191* +9 more)	Single nucleotide variant (nonsense)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GPathogenic
Select item 810674	NM_000312.4(PROC):c.752C>T (p.Ala251Val)	PROC (A232V +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 800485	NM_000312.4(PROC):c.113G>A (p.Arg38Gln)	PROC (R30Q +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive +1 more	GUncertain significance
Select item 663591	NM_000312.4(PROC):c.889G>C (p.Asp297His)	PROC (D297H +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GPathogenic
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 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 536975	NM_000312.4(PROC):c.1212G>A (p.Gly404=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GLikely benign
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 dominant +2 more	GConflicting classifications of pathogenicity
Select item 536968	NM_000312.4(PROC):c.534A>G (p.Ala178=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance
Select item 469121	NM_000312.4(PROC):c.30C>T (p.Phe10=)	PROC (S50L)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331114	NM_000312.4(PROC):c.*146T>C	PROC	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance
Select item 331111	NM_000312.4(PROC):c.1107G>A (p.Pro369=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GBenign/Likely benign
Select item 331109	NM_000312.4(PROC):c.927C>T (p.Ala309=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GBenign/Likely benign
Select item 331104	NM_000312.4(PROC):c.400+13G>A	PROC (E190K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 255810	NM_000312.4(PROC):c.768T>C (p.Asp256=)	PROC	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 255809	NM_000312.4(PROC):c.423G>T (p.Ser141=)	PROC	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 188230	NM_000312.4(PROC):c.169C>T (p.Arg57Trp)	PROC (R57W +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GPathogenic/Likely pathogenic
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 dominant +1 more	GUncertain significance
Select item 161339	NM_000312.4(PROC):c.580C>T (p.Arg194Cys)	PROC (R194C +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive +1 more	GUncertain significance
Select item 161338	NM_000312.4(PROC):c.160A>T (p.Ser54Cys)	PROC (S54C +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GUncertain significance
Select item 161337	NM_000312.4(PROC):c.52G>A (p.Gly18Ser)	PROC (G18S +2 more)	Single nucleotide variant (missense variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance
Select item 161336	NM_000312.4(PROC):c.1234G>A (p.Gly412Ser)	PROC (G412S +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive +1 more	GUncertain significance
Select item 161335	NM_000312.4(PROC):c.322C>A (p.His108Asn)	PROC (H108N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 676	NM_000312.4(PROC):c.1335C>G (p.Ile445Met)	PROC (I445M +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive	GPathogenic
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 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 667	NM_000312.4(PROC):c.866C>T (p.Pro289Leu)	PROC (P289L +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive	GPathogenic
Select item 666	NM_000312.4(PROC):c.1000G>A (p.Gly334Ser)	PROC (G334S +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 665	NM_000312.4(PROC):c.226G>A (p.Val76Met)	PROC (V76M +5 more)	Single nucleotide variant (missense variant)	Cerebral palsy +1 more	GPathogenic/Likely pathogenic
Select item 664	NM_000312.4(PROC):c.185A>C (p.Glu62Ala)	PROC (E62A +5 more)	Single nucleotide variant (missense variant)	PROC-related disorder	GPathogenic
Select item 663	NM_000312.4(PROC):c.1027G>A (p.Gly343Ser)	PROC (G343S +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive	GPathogenic
Select item 662	NM_000312.4(PROC):c.925G>A (p.Ala309Thr)	PROC (A309T +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 661	NM_000312.4(PROC):c.629C>T (p.Pro210Leu)	PROC (P210L +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GConflicting classifications of pathogenicity
Select item 660	NM_000312.4(PROC):c.902C>T (p.Ala301Val)	PROC (A301V +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 659	NM_000312.4(PROC):c.631C>T (p.Arg211Trp)	PROC (R211W +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GPathogenic/Likely pathogenic
Select item 658	PROC, ARG12TRP	PROC	Variation	Thrombophilia due to protein C deficiency, autosomal recessive	GPathogenic

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Items: 49