Related gene-specific medical variations for Gene (Select 8858) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219137	NM_003891.3(PROZ):c.983G>C (p.Gly328Ala)	PCID2, PROZ (G328A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219136	NM_003891.3(PROZ):c.827C>T (p.Ala276Val)	PCID2, PROZ (A276V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219135	NM_003891.3(PROZ):c.704C>T (p.Thr235Met)	PCID2, PROZ (T235M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219126	NM_003891.3(PROZ):c.1157C>T (p.Thr386Ile)	PCID2, PROZ (T408I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219124	NM_003891.3(PROZ):c.1063A>G (p.Ser355Gly)	PCID2, PROZ (S355G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056128	NM_003891.3(PROZ):c.884G>A (p.Arg295His)	PCID2, PROZ (R295H +1 more)	Single nucleotide variant (missense variant)	PROZ-related disorder	GLikely benign
Select item 3035274	NM_003891.3(PROZ):c.549G>A (p.Pro183=)	PCID2, PROZ	Single nucleotide variant (synonymous variant)	PROZ-related disorder	GLikely benign
Select item 2664044	NM_003891.3(PROZ):c.31C>G (p.Leu11Val)	PROZ (L11V)	Single nucleotide variant (missense variant)	Protein Z deficiency	GUncertain significance
Select item 2627064	NM_003891.3(PROZ):c.776A>T (p.Glu259Val)	PCID2, PROZ (E259V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2627041	NM_003891.3(PROZ):c.848_849del (p.Pro283fs)	PROZ, PCID2 (P283fs +1 more)	Deletion (frameshift variant)	Protein Z deficiency	GUncertain significance
Select item 2532361	NM_003891.3(PROZ):c.1030A>G (p.Ser344Gly)	PCID2, PROZ (S366G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520030	NM_003891.3(PROZ):c.701G>A (p.Arg234Lys)	PCID2, PROZ (R234K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489066	NM_003891.3(PROZ):c.1061G>C (p.Gly354Ala)	PCID2, PROZ (G354A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483317	NM_003891.3(PROZ):c.595G>A (p.Gly199Arg)	PCID2, PROZ (G199R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466317	NM_003891.3(PROZ):c.625C>T (p.Arg209Trp)	PCID2, PROZ (R231W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465851	NM_003891.3(PROZ):c.1059T>A (p.Asp353Glu)	PCID2, PROZ (D353E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456463	NM_003891.3(PROZ):c.1036G>A (p.Val346Met)	PCID2, PROZ (V368M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400927	NM_003891.3(PROZ):c.904G>A (p.Gly302Ser)	PCID2, PROZ (G302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382571	NM_003891.3(PROZ):c.754C>T (p.Arg252Trp)	PCID2, PROZ (R274W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377580	NM_003891.3(PROZ):c.537G>C (p.Glu179Asp)	PCID2, PROZ (E179D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295428	NM_003891.3(PROZ):c.764C>T (p.Ala255Val)	PCID2, PROZ (A255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284722	NM_003891.3(PROZ):c.739G>A (p.Val247Ile)	PCID2, PROZ (V269I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229634	NM_003891.3(PROZ):c.542G>A (p.Arg181His)	PCID2, PROZ (R203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219701	NM_003891.3(PROZ):c.592G>A (p.Glu198Lys)	PCID2, PROZ (E198K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217247	NM_003891.3(PROZ):c.752T>C (p.Met251Thr)	PCID2, PROZ (M273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215350	NM_003891.3(PROZ):c.566C>T (p.Pro189Leu)	PCID2, PROZ (P189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208262	NM_003891.3(PROZ):c.862G>A (p.Ala288Thr)	PCID2, PROZ (A288T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 988841	NM_003891.3(PROZ):c.647C>T (p.Thr216Ile)	PROZ, PCID2 (T216I +1 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 779649	NM_003891.3(PROZ):c.903C>T (p.Ser301=)	PCID2, PROZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738395	NM_003891.3(PROZ):c.769G>A (p.Ala257Thr)	PCID2, PROZ (A279T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 736963	NM_003891.3(PROZ):c.672del (p.Asn225fs)	PCID2, PROZ (N225fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 734834	NM_003891.3(PROZ):c.948G>A (p.Thr316=)	PROZ, PCID2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722302	NM_003891.3(PROZ):c.871C>T (p.Leu291Phe)	PCID2, PROZ (L291F +1 more)	Single nucleotide variant (missense variant)	PROZ-related disorder +1 more	GBenign

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Links from Gene

Items: 33