ZP2[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 151156	GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1	ACSM1, ACSM2A +35 more	Copy number loss	See cases	GUncertain significance
Select item 2406748	NM_001376232.1(ZP2):c.2228C>T (p.Ser743Leu)	ZP2 (S743L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3199220	NM_001376232.1(ZP2):c.2180T>C (p.Val727Ala)	ZP2 (V727A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199219	NM_001376232.1(ZP2):c.2146G>A (p.Ala716Thr)	ZP2 (A707T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2236429	NM_001376232.1(ZP2):c.2102T>C (p.Met701Thr)	ZP2 (M692T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051221	NM_001376232.1(ZP2):c.2096-5dup	ZP2	Duplication (intron variant)	ZP2-related disorder	GLikely benign
Select item 2487194	NM_001376232.1(ZP2):c.2077G>A (p.Glu693Lys)	ZP2 (E684K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708592	NM_001376232.1(ZP2):c.2011+8C>T	ZP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3199218	NM_001376232.1(ZP2):c.2000C>A (p.Ser667Tyr)	ZP2 (S658Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306013	NM_001376232.1(ZP2):c.2000C>T (p.Ser667Phe)	ZP2 (S658F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199217	NM_001376232.1(ZP2):c.1999T>G (p.Ser667Ala)	ZP2 (S658A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259976	NM_001376232.1(ZP2):c.1895T>G (p.Val632Gly)	ZP2 (V623G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231401	NM_001376232.1(ZP2):c.1862A>C (p.Asn621Thr)	ZP2 (N612T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357529	NM_001376232.1(ZP2):c.1816G>A (p.Val606Met)	ZP2 (V606M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038807	NM_001376232.1(ZP2):c.1815C>T (p.His605=)	ZP2	Single nucleotide variant (synonymous variant +1 more)	ZP2-related disorder	GLikely benign
Select item 2316476	NM_001376232.1(ZP2):c.1814A>C (p.His605Pro)	ZP2 (H596P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475222	NM_001376232.1(ZP2):c.1780G>C (p.Asp594His)	ZP2 (D594H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252228	NM_001376232.1(ZP2):c.1741G>A (p.Gly581Ser)	ZP2 (G572S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 619596	NM_001376232.1(ZP2):c.1695-2A>G	ZP2	Single nucleotide variant (splice acceptor variant)	Oocyte maturation defect 6	GPathogenic
Select item 619597	NM_001376232.1(ZP2):c.1691_1694dup (p.Cys566fs)	ZP2 (C566fs +1 more)	Duplication (frameshift variant +1 more)	Oocyte maturation defect 6	GPathogenic
Select item 3259972	NM_001376232.1(ZP2):c.1687G>A (p.Val563Met)	ZP2 (V554M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524971	NM_001376232.1(ZP2):c.1666T>A (p.Phe556Ile)	ZP2 (F547I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360940	NM_001376232.1(ZP2):c.1658C>T (p.Pro553Leu)	ZP2 (P544L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776993	NM_001376232.1(ZP2):c.1536C>T (p.Asn512=)	ZP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2299320	NM_001376232.1(ZP2):c.1487T>G (p.Ile496Ser)	ZP2 (I487S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279958	NM_001376232.1(ZP2):c.1475C>T (p.Pro492Leu)	ZP2 (P483L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259979	NM_001376232.1(ZP2):c.1364G>C (p.Arg455Thr)	ZP2 (R455T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365596	NM_001376232.1(ZP2):c.1306G>A (p.Val436Ile)	ZP2 (V436I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2385571	NM_001376232.1(ZP2):c.1291G>A (p.Glu431Lys)	ZP2 (E431K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2378889	NM_001376232.1(ZP2):c.1247G>A (p.Arg416Gln)	ZP2 (R416Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360916	NM_001376232.1(ZP2):c.1246C>T (p.Arg416Trp)	ZP2 (R416W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225656	NM_001376232.1(ZP2):c.1141G>A (p.Glu381Lys)	ZP2 (E381K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498654	NM_001376232.1(ZP2):c.1140C>T (p.Val380=)	ZP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2239960	NM_001376232.1(ZP2):c.1123G>A (p.Asp375Asn)	ZP2 (D375N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 689402	NM_001376232.1(ZP2):c.1115G>C (p.Cys372Ser)	ZP2 (C372S)	Single nucleotide variant (missense variant +1 more)	Oocyte maturation defect 6	GPathogenic
Select item 3199216	NM_001376232.1(ZP2):c.1103C>T (p.Thr368Ile)	ZP2 (T368I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040441	NM_001376232.1(ZP2):c.1100-9G>A	ZP2	Single nucleotide variant (intron variant)	ZP2-related disorder	GLikely benign
Select item 3040963	NM_001376232.1(ZP2):c.1099+9C>A	ZP2	Single nucleotide variant (intron variant)	ZP2-related disorder	GLikely benign
Select item 2570934	NM_001376232.1(ZP2):c.1090G>A (p.Val364Ile)	ZP2 (V364I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3259977	NM_001376232.1(ZP2):c.1070A>G (p.Glu357Gly)	ZP2 (E357G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213829	NM_001376232.1(ZP2):c.970A>G (p.Lys324Glu)	ZP2 (K324E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199225	NM_001376232.1(ZP2):c.907G>A (p.Gly303Arg)	ZP2 (G303R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060177	NM_001376232.1(ZP2):c.747T>C (p.Pro249=)	ZP2	Single nucleotide variant (synonymous variant +1 more)	ZP2-related disorder	GBenign
Select item 3259975	NM_001376232.1(ZP2):c.743C>T (p.Ser248Phe)	ZP2 (S248F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646306	NM_001376232.1(ZP2):c.720G>A (p.Val240=)	ZP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2348934	NM_001376232.1(ZP2):c.715A>G (p.Met239Val)	ZP2 (M239V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485579	NM_001376232.1(ZP2):c.688T>C (p.Tyr230His)	ZP2 (Y230H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513614	NM_001376232.1(ZP2):c.656A>G (p.His219Arg)	ZP2 (H219R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411896	NM_001376232.1(ZP2):c.580G>A (p.Ala194Thr)	ZP2 (A194T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471490	NM_001376232.1(ZP2):c.557T>C (p.Ile186Thr)	ZP2 (I186T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259980	NM_001376232.1(ZP2):c.548G>A (p.Gly183Glu)	ZP2 (G183E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512916	NM_001376232.1(ZP2):c.547G>C (p.Gly183Arg)	ZP2 (G183R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488618	NM_001376232.1(ZP2):c.538G>T (p.Val180Phe)	ZP2 (V180F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058946	NM_001376232.1(ZP2):c.519C>T (p.Asp173=)	ZP2	Single nucleotide variant (synonymous variant +1 more)	ZP2-related disorder	GBenign
Select item 710348	NM_001376232.1(ZP2):c.495A>C (p.Pro165=)	ZP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 714693	NM_001376232.1(ZP2):c.460A>G (p.Ile154Val)	ZP2 (I154V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2386845	NM_001376232.1(ZP2):c.425A>G (p.Gln142Arg)	ZP2 (Q142R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199224	NM_001376232.1(ZP2):c.397A>G (p.Met133Val)	ZP2 (M133V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199222	NM_001376232.1(ZP2):c.337G>A (p.Gly113Arg)	ZP2 (G113R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1048827	NM_001376232.1(ZP2):c.278A>G (p.Asp93Gly)	ZP2 (D93G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2472386	NM_001376232.1(ZP2):c.272T>A (p.Ile91Asn)	ZP2 (I91N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776994	NM_001376232.1(ZP2):c.222T>A (p.His74Gln)	ZP2 (H74Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2337114	NM_001376232.1(ZP2):c.221A>G (p.His74Arg)	ZP2 (H74R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039783	NM_001376232.1(ZP2):c.152-6C>T	ZP2	Single nucleotide variant (intron variant)	ZP2-related disorder	GLikely benign
Select item 1803728	NM_001376232.1(ZP2):c.151+1G>A	ZP2	Single nucleotide variant (splice donor variant)	Oocyte maturation defect 6	GLikely pathogenic
Select item 3060011	NM_001376232.1(ZP2):c.107G>T (p.Gly36Val)	ZP2 (G36V)	Single nucleotide variant (missense variant +1 more)	ZP2-related disorder	GBenign
Select item 3199227	NM_001376232.1(ZP2):c.92C>T (p.Ala31Val)	ZP2 (A31V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199226	NM_001376232.1(ZP2):c.91G>A (p.Ala31Thr)	ZP2 (A31T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2379547	NM_001376232.1(ZP2):c.74C>G (p.Ser25Trp)	ZP2 (S25W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3259978	NM_001376232.1(ZP2):c.50A>G (p.Asn17Ser)	ZP2 (N17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199221	NM_001376232.1(ZP2):c.22G>A (p.Gly8Ser)	ZP2 (G8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259974	NM_001376232.1(ZP2):c.20G>A (p.Gly7Glu)	ZP2 (G7E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403683	NM_001376232.1(ZP2):c.5C>T (p.Ala2Val)	ZP2 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039472	NM_001376232.1(ZP2):c.-9T>C	ZP2	Single nucleotide variant (5 prime UTR variant +1 more)	ZP2-related disorder	GBenign
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526505	GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328)	ERI2, GP2 +15 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 687494	GRCh37/hg19 16p12.3-12.2(chr16:20860025-21334650)x3	ANKS4B, CRYM +5 more	Copy number gain	not provided	GUncertain significance
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 92