"Ambry Genetics"[submitter] AND "ZP1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2255188	NM_207341.4(ZP1):c.14C>T (p.Ser5Leu)	ZP1 (S5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407848	NM_207341.4(ZP1):c.58G>A (p.Ala20Thr)	ZP1 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410715	NM_207341.4(ZP1):c.65T>C (p.Leu22Pro)	ZP1 (L22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272354	NM_207341.4(ZP1):c.67G>A (p.Gly23Arg)	ZP1 (G23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473360	NM_207341.4(ZP1):c.124G>A (p.Asp42Asn)	ZP1 (D42N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233500	NM_207341.4(ZP1):c.212G>A (p.Arg71Gln)	ZP1 (R71Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2606070	NM_207341.4(ZP1):c.216T>A (p.Phe72Leu)	ZP1 (F72L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532412	NM_207341.4(ZP1):c.290A>C (p.Asp97Ala)	ZP1 (D97A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199207	NM_207341.4(ZP1):c.307G>A (p.Val103Met)	ZP1 (V103M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543146	NM_207341.4(ZP1):c.307G>C (p.Val103Leu)	ZP1 (V103L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522547	NM_207341.4(ZP1):c.371G>A (p.Arg124His)	ZP1 (R124H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2378224	NM_207341.4(ZP1):c.391G>A (p.Ala131Thr)	ZP1 (A131T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2483665	NM_207341.4(ZP1):c.412C>T (p.Pro138Ser)	ZP1 (P138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199208	NM_207341.4(ZP1):c.443T>C (p.Leu148Pro)	ZP1 (L148P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239815	NM_207341.4(ZP1):c.544C>G (p.Pro182Ala)	ZP1 (P182A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468298	NM_207341.4(ZP1):c.578C>A (p.Thr193Asn)	ZP1 (T193N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259969	NM_207341.4(ZP1):c.611C>T (p.Thr204Ile)	ZP1 (T204I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237070	NM_207341.4(ZP1):c.697C>G (p.Gln233Glu)	ZP1 (Q233E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199210	NM_207341.4(ZP1):c.700G>A (p.Glu234Lys)	ZP1 (E234K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199211	NM_207341.4(ZP1):c.722G>A (p.Gly241Glu)	ZP1 (G241E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199212	NM_207341.4(ZP1):c.739G>A (p.Val247Met)	ZP1 (V247M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224764	NM_207341.4(ZP1):c.869T>C (p.Val290Ala)	ZP1 (V290A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270015	NM_207341.4(ZP1):c.888G>C (p.Leu296Phe)	ZP1 (L3F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3199214	NM_207341.4(ZP1):c.898A>G (p.Ile300Val)	ZP1 (I7V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3199215	NM_207341.4(ZP1):c.970G>A (p.Val324Met)	ZP1 (V31M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3199202	NM_207341.4(ZP1):c.1022G>A (p.Gly341Asp)	ZP1 (G341D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3199203	NM_207341.4(ZP1):c.1033A>C (p.Ile345Leu)	ZP1 (I52L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254953	NM_207341.4(ZP1):c.1034T>C (p.Ile345Thr)	ZP1 (I345T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508068	NM_207341.4(ZP1):c.1103G>A (p.Ser368Asn)	ZP1 (S368N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220916	NM_207341.4(ZP1):c.1123C>T (p.Arg375Cys)	ZP1 (R375C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3259968	NM_207341.4(ZP1):c.1197G>A (p.Met399Ile)	ZP1 (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3199204	NM_207341.4(ZP1):c.1207G>A (p.Gly403Ser)	ZP1 (G403S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516011	NM_207341.4(ZP1):c.1229G>A (p.Arg410Gln)	ZP1 (R117Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470216	NM_207341.4(ZP1):c.1235C>T (p.Ala412Val)	ZP1 (A412V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466529	NM_207341.4(ZP1):c.1243G>A (p.Glu415Lys)	ZP1 (E17K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518003	NM_207341.4(ZP1):c.1312G>T (p.Val438Leu)	ZP1 (V145L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284508	NM_207341.4(ZP1):c.1312G>A (p.Val438Met)	ZP1 (V40M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494230	NM_207341.4(ZP1):c.1426G>A (p.Asp476Asn)	ZP1 (D476N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242183	NM_207341.4(ZP1):c.1467G>A (p.Met489Ile)	ZP1 (M91I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484040	NM_207341.4(ZP1):c.1477G>T (p.Asp493Tyr)	ZP1 (D200Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482247	NM_207341.4(ZP1):c.1481G>A (p.Gly494Glu)	ZP1 (G494E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299463	NM_207341.4(ZP1):c.1499C>T (p.Ser500Leu)	ZP1 (S102L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465578	NM_207341.4(ZP1):c.1598C>T (p.Ala533Val)	ZP1 (A533V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394994	NM_207341.4(ZP1):c.1642A>C (p.Thr548Pro)	ZP1 (T548P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534090	NM_207341.4(ZP1):c.1661G>A (p.Arg554Gln)	ZP1 (R156Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242462	NM_207341.4(ZP1):c.1705A>C (p.Ile569Leu)	ZP1 (I569L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590718	NM_207341.4(ZP1):c.1718C>T (p.Pro573Leu)	ZP1 (P175L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199205	NM_207341.4(ZP1):c.1726G>A (p.Val576Met)	ZP1 (V178M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259970	NM_207341.4(ZP1):c.1750C>A (p.Gln584Lys)	ZP1 (Q291K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199206	NM_207341.4(ZP1):c.1853T>C (p.Phe618Ser)	ZP1 (F220S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259971	NM_207341.4(ZP1):c.1873A>G (p.Ser625Gly)	ZP1 (S227G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51