"Ambry Genetics"[submitter] AND "PROZ"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2515522	NM_003891.3(PROZ):c.97G>A (p.Asp33Asn)	PROZ (D33N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219127	NM_003891.3(PROZ):c.118C>T (p.Arg40Cys)	PROZ (R40C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412171	NM_003891.3(PROZ):c.119G>A (p.Arg40His)	PROZ (R62H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245032	NM_003891.3(PROZ):c.121G>A (p.Ala41Thr)	PROZ (A41T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219128	NM_003891.3(PROZ):c.150C>G (p.Phe50Leu)	PROZ (F72L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543265	NM_003891.3(PROZ):c.175T>A (p.Tyr59Asn)	PROZ (Y81N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219129	NM_003891.3(PROZ):c.185T>A (p.Ile62Asn)	PROZ (I84N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318219	NM_003891.3(PROZ):c.194A>C (p.Tyr65Ser)	PROZ (Y87S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324427	NM_003891.3(PROZ):c.260G>A (p.Gly87Asp)	PROZ (G87D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219130	NM_003891.3(PROZ):c.262G>A (p.Gly88Ser)	PROZ (G110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234197	NM_003891.3(PROZ):c.269C>G (p.Pro90Arg)	PROZ (P90R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331474	NM_003891.3(PROZ):c.310G>A (p.Asp104Asn)	PROZ (D126N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353695	NM_003891.3(PROZ):c.340T>C (p.Ser114Pro)	PROZ (S136P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482019	NM_003891.3(PROZ):c.367G>C (p.Glu123Gln)	PROZ (E123Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550298	NM_003891.3(PROZ):c.388C>T (p.His130Tyr)	PROZ (H130Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244248	NM_003891.3(PROZ):c.398G>A (p.Arg133Gln)	PROZ (R155Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219132	NM_003891.3(PROZ):c.446C>T (p.Thr149Ile)	PROZ (T171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219133	NM_003891.3(PROZ):c.471G>C (p.Arg157Ser)	PROZ (R179S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551801	NM_003891.3(PROZ):c.504C>A (p.His168Gln)	PROZ (H190Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3219126	NM_003891.3(PROZ):c.1157C>T (p.Thr386Ile)	PCID2, PROZ (T408I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 41