PROZ[gene] and "single gene"[properties] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 29850	NM_003891.3(PROZ):c.208G>C (p.Glu70Gln)	PROZ (E70Q +1 more)	Single nucleotide variant (missense variant)	Protein Z deficiency	GAffects
Select item 734833	NM_003891.3(PROZ):c.255T>C (p.Tyr85=)	PROZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3047135	NM_003891.3(PROZ):c.268C>G (p.Pro90Ala)	PROZ (P112A +1 more)	Single nucleotide variant (missense variant)	PROZ-related disorder	GLikely benign
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

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Items: 23