ZP1[gene] - ClinVar

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Items: 81

	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 1267528	NM_207341.4(ZP1):c.57T>C (p.Val19=)	ZP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2438696	NM_207341.4(ZP1):c.72G>A (p.Leu24=)	ZP1	Single nucleotide variant (synonymous variant)	Female infertility due to zona pellucida defect	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)	not provided +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 2578658	NM_207341.4(ZP1):c.277G>A (p.Val93Ile)	ZP1 (V93I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 790093	NM_207341.4(ZP1):c.285G>A (p.Ser95=)	ZP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 2641815	NM_207341.4(ZP1):c.319G>A (p.Asp107Asn)	ZP1 (D107N)	Single nucleotide variant (missense variant)	ZP1-related disorder +1 more	GLikely benign
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 1183650	NM_207341.4(ZP1):c.473C>T (p.Thr158Ile)	ZP1 (T158I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2065331	NM_207341.4(ZP1):c.628C>T (p.Gln210Ter)	ZP1 (Q210*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 695115	NM_207341.4(ZP1):c.769C>T (p.Gln257Ter)	ZP1 (Q257*)	Single nucleotide variant (nonsense)	Oocyte maturation defect 3	GPathogenic
Select item 1225711	NM_207341.4(ZP1):c.858C>T (p.Phe286=)	ZP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 1335070	NM_207341.4(ZP1):c.1037A>G (p.Tyr346Cys)	ZP1 (Y346C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1263016	NM_207341.4(ZP1):c.1113-155C>A	ZP1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2570799	NM_207341.4(ZP1):c.1138G>A (p.Ala380Thr)	ZP1 (A380T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 127200	NM_207341.4(ZP1):c.1169_1176del (p.Ile390fs)	ZP1 (I390fs +1 more)	Deletion (frameshift variant +1 more)	Female infertility due to zona pellucida defect	GPathogenic
Select item 812693	NM_207341.4(ZP1):c.1168del (p.Ile390fs)	ZP1 (I390fs +1 more)	Deletion (frameshift variant +1 more)	Female infertility due to zona pellucida defect	GLikely pathogenic
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 3058507	NM_207341.4(ZP1):c.1344C>T (p.Pro448=)	ZP1	Single nucleotide variant (synonymous variant)	ZP1-related disorder	GLikely benign
Select item 1709476	NM_207341.4(ZP1):c.1378G>A (p.Ala460Thr)	ZP1 (A167T +2 more)	Single nucleotide variant (missense variant)	Female infertility due to zona pellucida defect	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 689405	NM_207341.4(ZP1):c.1430+1G>T	ZP1	Single nucleotide variant (splice donor variant)	Female infertility due to zona pellucida defect	GPathogenic
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 1286047	NM_207341.4(ZP1):c.1573-81G>A	ZP1	Single nucleotide variant (intron variant)	not provided	GBenign
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 713989	NM_207341.4(ZP1):c.1686C>T (p.Asp562=)	ZP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 689404	NM_207341.4(ZP1):c.1708G>A (p.Val570Met)	ZP1 (V570M +2 more)	Single nucleotide variant (missense variant)	Female infertility due to zona pellucida defect	GPathogenic
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 689406	NM_207341.4(ZP1):c.1775-8T>C	ZP1	Single nucleotide variant (intron variant)	Female infertility due to zona pellucida defect	GPathogenic
Select item 2641816	NM_207341.4(ZP1):c.1815G>A (p.Ala605=)	ZP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 81