"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PROC"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 469121	NM_000312.4(PROC):c.30C>T (p.Phe10=)	PROC (S50L)	Single nucleotide variant (synonymous variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant +3 more	GConflicting classifications of pathogenicity
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 1163799	NM_000312.4(PROC):c.70+7C>G	PROC	Single nucleotide variant (intron variant)	not provided	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 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 985222	NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del)	PROC	Deletion (inframe_deletion)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 627207	NM_000312.4(PROC):c.386G>A (p.Arg129His)	PROC (R129H +6 more)	Single nucleotide variant (missense variant)	Deep venous thrombosis +5 more	GUncertain significance
Select item 2682746	NM_000312.4(PROC):c.389T>C (p.Phe130Ser)	PROC (F122S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989365	NM_000312.4(PROC):c.400+5G>C	PROC (E135D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 2682747	NM_000312.4(PROC):c.627T>A (p.Asp209Glu)	PROC (D190E +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203147	NM_000312.4(PROC):c.907_908del (p.Leu303fs)	PROC (L284fs +9 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 934521	NM_000312.4(PROC):c.1155G>A (p.Met385Ile)	PROC (M447I +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 407370	NM_000312.4(PROC):c.1212dup (p.Pro405fs)	PROC (P405fs +9 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2683256	NM_000312.4(PROC):c.1298G>A (p.Gly433Asp)	PROC (G414D +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic