ZP3[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 110

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 153077	GRCh38/hg38 7q11.23(chr7:76322093-76473764)x1	DTX2, FPASL +8 more	Copy number loss	See cases	GBenign
Select item 2249141	NM_080744.2(SSC4D):c.712G>C (p.Ala238Pro)	SSC4D, ZP3 (A238P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249140	NM_080744.2(SSC4D):c.709G>C (p.Ala237Pro)	SSC4D, ZP3 (A237P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222744	NM_080744.2(SSC4D):c.707T>G (p.Met236Arg)	SSC4D, ZP3 (M236R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408420	NM_080744.2(SSC4D):c.698G>A (p.Gly233Glu)	LOC129998700, SSC4D +1 more (G233E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486570	NM_080744.2(SSC4D):c.671C>G (p.Ala224Gly)	LOC129998700, SSC4D +1 more (A224G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607660	NM_080744.2(SSC4D):c.539T>C (p.Leu180Pro)	SSC4D, ZP3 (L180P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2258516	NM_080744.2(SSC4D):c.419G>A (p.Arg140His)	SSC4D, ZP3 (R140H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324968	NM_080744.2(SSC4D):c.356C>T (p.Pro119Leu)	SSC4D, ZP3 (P119L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269974	NM_080744.2(SSC4D):c.341G>T (p.Gly114Val)	SSC4D, ZP3 (G114V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460770	NM_080744.2(SSC4D):c.322C>T (p.Pro108Ser)	SSC4D, ZP3 (P108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234217	NM_080744.2(SSC4D):c.319G>A (p.Val107Met)	ZP3, SSC4D (V107M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616798	NM_080744.2(SSC4D):c.243C>A (p.Ser81Arg)	SSC4D, ZP3 (S81R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170316	NM_080744.2(SSC4D):c.222G>A (p.Met74Ile)	SSC4D, ZP3 (M74I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599488	NM_080744.2(SSC4D):c.79G>A (p.Ala27Thr)	SSC4D, ZP3 (A27T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2320448	NM_080744.2(SSC4D):c.63G>T (p.Arg21Ser)	SSC4D, ZP3 (R21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491072	NM_080744.2(SSC4D):c.56G>T (p.Gly19Val)	SSC4D, ZP3 (G19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170317	NM_080744.2(SSC4D):c.54G>C (p.Trp18Cys)	SSC4D, ZP3 (W18C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216085	NM_001110354.2(ZP3):c.4G>A (p.Glu2Lys)	ZP3 (E2K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216086	NM_001110354.2(ZP3):c.5A>T (p.Glu2Val)	ZP3 (E2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357087	NM_001110354.2(ZP3):c.13T>G (p.Tyr5Asp)	ZP3 (Y5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294499	NM_001110354.2(ZP3):c.38T>C (p.Leu13Pro)	ZP3 (L13P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483826	NM_001110354.2(ZP3):c.44G>A (p.Gly15Asp)	ZP3 (G15D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371431	NM_001110354.2(ZP3):c.70C>T (p.Pro24Ser)	ZP3 (P24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060473	NM_001110354.2(ZP3):c.91G>A (p.Gly31Arg)	ZP3 (G31R)	Single nucleotide variant (missense variant +1 more)	ZP3-related disorder	GBenign
Select item 791452	NM_001110354.2(ZP3):c.108G>C (p.Glu36Asp)	ZP3 (E36D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2524579	NM_001110354.2(ZP3):c.110C>T (p.Thr37Met)	ZP3 (T37M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713157	NM_001110354.2(ZP3):c.114C>T (p.Ser38=)	ZP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3040744	NM_001110354.2(ZP3):c.123C>T (p.Pro41=)	ZP3	Single nucleotide variant (synonymous variant +1 more)	ZP3-related disorder	GLikely benign
Select item 2226130	NM_001110354.2(ZP3):c.137G>A (p.Cys46Tyr)	ZP3 (C46Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250891	NM_001110354.2(ZP3):c.140A>G (p.Gln47Arg)	ZP3 (Q47R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1333775	NM_001110354.2(ZP3):c.157dup (p.Val53fs)	ZP3 (V2fs +1 more)	Duplication (frameshift variant +1 more)	Oocyte maturation defect 3	GLikely pathogenic
Select item 3035426	NM_001110354.2(ZP3):c.186C>T (p.Thr62=)	ZP3	Single nucleotide variant (synonymous variant)	ZP3-related disorder	GBenign
Select item 3234394	NM_001110354.2(ZP3):c.222C>A (p.Gly74=)	ZP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710660	NM_001110354.2(ZP3):c.262G>T (p.Asp88Tyr)	ZP3 (D37Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3259985	NM_001110354.2(ZP3):c.280G>A (p.Val94Ile)	ZP3 (V43I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744821	NM_001110354.2(ZP3):c.291C>T (p.His97=)	ZP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2319336	NM_001110354.2(ZP3):c.305G>A (p.Ser102Asn)	ZP3 (S102N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199230	NM_001110354.2(ZP3):c.308T>G (p.Met103Arg)	ZP3 (M52R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583049	NM_001110354.2(ZP3):c.309G>T (p.Met103Ile)	ZP3 (M103I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611682	NM_001110354.2(ZP3):c.367G>A (p.Val123Met)	ZP3 (V123M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287647	NM_001110354.2(ZP3):c.382A>G (p.Ile128Val)	ZP3 (I128V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259983	NM_001110354.2(ZP3):c.398G>A (p.Arg133His)	ZP3 (R82H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548511	NM_001110354.2(ZP3):c.398G>T (p.Arg133Leu)	ZP3 (R133L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 437933	NM_001110354.2(ZP3):c.400G>A (p.Ala134Thr)	ZP3 (A134T +1 more)	Single nucleotide variant (missense variant)	Empty follicle syndrome +1 more	GPathogenic
Select item 2521342	NM_001110354.2(ZP3):c.409C>G (p.Pro137Ala)	ZP3 (P86A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283311	NM_001110354.2(ZP3):c.422G>T (p.Arg141Leu)	ZP3 (R90L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673109	NM_001110354.2(ZP3):c.431+4G>A	ZP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3259981	NM_001110354.2(ZP3):c.496T>G (p.Ser166Ala)	ZP3 (S115A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285239	NM_001110354.2(ZP3):c.499GAG[1] (p.Glu168del)	ZP3 (E117del +1 more)	Microsatellite (inframe_deletion)	Empty ovarian follicle	GPathogenic
Select item 2657624	NM_001110354.2(ZP3):c.536-4T>A	ZP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2249150	NM_001110354.2(ZP3):c.547G>T (p.Ala183Ser)	ZP3 (A132S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778022	NM_001110354.2(ZP3):c.547G>A (p.Ala183Thr)	ZP3 (A132T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3068101	NM_001110354.2(ZP3):c.581A>T (p.Asp194Val)	ZP3 (D143V +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 3	GUncertain significance
Select item 2597779	NM_001110354.2(ZP3):c.586G>A (p.Ala196Thr)	ZP3 (A196T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518482	NM_001110354.2(ZP3):c.623T>C (p.Val208Ala)	ZP3 (V208A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2571279	NM_001110354.2(ZP3):c.632G>A (p.Arg211Gln)	ZP3 (R160Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779252	NM_001110354.2(ZP3):c.662C>G (p.Pro221Arg)	ZP3 (P221R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2657625	NM_001110354.2(ZP3):c.727G>A (p.Gly243Ser)	ZP3 (G192S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689403	NM_001110354.2(ZP3):c.763C>G (p.Arg255Gly)	ZP3 (R255G +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 3	GPathogenic
Select item 2283265	NM_001110354.2(ZP3):c.779C>T (p.Thr260Ile)	ZP3 (T260I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388595	NM_001110354.2(ZP3):c.791C>A (p.Thr264Lys)	ZP3 (T264K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390116	NM_001110354.2(ZP3):c.798T>A (p.Asp266Glu)	ZP3 (D266E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390117	NM_001110354.2(ZP3):c.800T>A (p.Val267Asp)	ZP3 (V216D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390118	NM_001110354.2(ZP3):c.802T>A (p.Phe268Ile)	ZP3 (F217I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711657	NM_001110354.2(ZP3):c.831+1G>C	ZP3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3259982	NM_001110354.2(ZP3):c.835T>C (p.Tyr279His)	ZP3 (Y279H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259986	NM_001110354.2(ZP3):c.853A>G (p.Lys285Glu)	ZP3 (K234E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220121	NM_001110354.2(ZP3):c.878C>G (p.Pro293Arg)	ZP3 (P242R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768162	NM_001110354.2(ZP3):c.923+8_923+10del	ZP3	Microsatellite (intron variant)	Oocyte maturation defect 3 +1 more	GBenign/Likely benign
Select item 768163	NM_001110354.2(ZP3):c.943T>C (p.Ser315Pro)	ZP3 (S264P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2516482	NM_001110354.2(ZP3):c.973G>A (p.Gly325Ser)	ZP3 (G325S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391671	NM_001110354.2(ZP3):c.988C>T (p.Pro330Ser)	ZP3 (P279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579020	NM_001110354.2(ZP3):c.994C>T (p.His332Tyr)	ZP3 (H281Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 148376	GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3	APTR, CCDC146 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2333100	NM_001110354.2(ZP3):c.1045C>T (p.Arg349Cys)	ZP3 (R349C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319104	NM_001110354.2(ZP3):c.1097T>A (p.Ile366Asn)	ZP3 (I315N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712658	NM_001110354.2(ZP3):c.1113G>T (p.Arg371Ser)	ZP3 (R320S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771159	NM_001110354.2(ZP3):c.1130A>G (p.Glu377Gly)	ZP3 (E326G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3199228	NM_001110354.2(ZP3):c.1139C>T (p.Ala380Val)	ZP3 (A380V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510844	NM_001110354.2(ZP3):c.1145C>T (p.Pro382Leu)	ZP3 (P382L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199229	NM_001110354.2(ZP3):c.1163T>A (p.Val388Glu)	ZP3 (V337E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271943	NM_001110354.2(ZP3):c.1240C>T (p.Arg414Cys)	ZP3 (R414C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 831245	NC_000007.13:g.(?_75914933)_(76029908_?)del	HSPB1, SRRM3 +3 more	Deletion	not provided	GUncertain significance

<< First< Prev

Page of 2