Related gene-specific medical variations for Gene (Select 5624) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683972	NM_000312.4(PROC):c.1005G>C (p.Gln335His)	PROC (Q316H +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2683970	NM_000312.4(PROC):c.382G>C (p.Gly128Arg)	PROC (G120R +6 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2683966	NM_000312.4(PROC):c.989T>C (p.Leu330Pro)	PROC (L311P +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 2627076	NM_000312.4(PROC):c.980A>T (p.Glu327Val)	PROC (E308V +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1992373	NM_000312.4(PROC):c.94C>T (p.Arg32Cys)	PROC (R24C +4 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 1992372	NM_000312.4(PROC):c.92A>T (p.Glu31Val)	PROC (E23V +4 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1992371	NM_000312.4(PROC):c.874A>G (p.Ser292Gly)	PROC (S326G +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1330288	NM_000312.4(PROC):c.983G>A (p.Arg328His)	PROC (R309H +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 1330281	NM_000312.4(PROC):c.433G>A (p.Gly145Ser)	PROC (G137S +8 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 1330274	NM_000312.4(PROC):c.673T>C (p.Trp225Arg)	PROC (W206R +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 1048662	NM_000312.4(PROC):c.400+2T>C	PROC (V186A)	Single nucleotide variant (synonymous variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 1048660	NM_000312.4(PROC):c.718G>A (p.Ala240Thr)	PROC (A221T +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
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 658	PROC, ARG12TRP	PROC	Variation	Thrombophilia due to protein C deficiency, autosomal recessive	GPathogenic