ZZZ3[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 709333	NM_015534.6(ZZZ3):c.2604A>G (p.Gln868=)	ZZZ3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2212784	NM_015534.6(ZZZ3):c.2603A>G (p.Gln868Arg)	ZZZ3 (Q374R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249755	NM_015534.6(ZZZ3):c.2596G>T (p.Asp866Tyr)	ZZZ3 (D865Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316376	NM_015534.6(ZZZ3):c.2589C>G (p.His863Gln)	ZZZ3 (H369Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340988	NM_015534.6(ZZZ3):c.2482A>G (p.Ile828Val)	ZZZ3 (I828V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548457	NM_015534.6(ZZZ3):c.2356T>C (p.Tyr786His)	ZZZ3 (Y292H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306541	NM_015534.6(ZZZ3):c.2285G>A (p.Arg762Gln)	ZZZ3 (R267Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390841	NM_015534.6(ZZZ3):c.2168A>G (p.Tyr723Cys)	ZZZ3 (Y229C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385381	NM_015534.6(ZZZ3):c.2162A>G (p.Tyr721Cys)	ZZZ3 (Y720C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540846	NM_015534.6(ZZZ3):c.2155A>G (p.Asn719Asp)	ZZZ3 (N224D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211099	NM_015534.6(ZZZ3):c.2003T>A (p.Ile668Asn)	ZZZ3 (I173N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 715625	NM_015534.6(ZZZ3):c.1981-8T>C	ZZZ3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2360949	NM_015534.6(ZZZ3):c.1967C>G (p.Thr656Ser)	ZZZ3 (T656S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552403	NM_015534.6(ZZZ3):c.1907A>G (p.Gln636Arg)	ZZZ3 (Q635R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613585	NM_015534.6(ZZZ3):c.1750C>T (p.Arg584Cys)	ZZZ3 (R90C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323197	NM_015534.6(ZZZ3):c.1643A>C (p.Lys548Thr)	ZZZ3 (K54T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 806154	NM_015534.6(ZZZ3):c.1567G>T (p.Asp523Tyr)	ZZZ3 (D523Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2470455	NM_015534.6(ZZZ3):c.1429A>G (p.Ile477Val)	ZZZ3 (I477V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2389304	NM_015534.6(ZZZ3):c.1346G>A (p.Ser449Asn)	ZZZ3 (S449N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2338850	NM_015534.6(ZZZ3):c.1322G>C (p.Cys441Ser)	ZZZ3 (C441S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258347	NM_015534.6(ZZZ3):c.1249G>A (p.Ala417Thr)	ZZZ3 (A417T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2600723	NM_015534.6(ZZZ3):c.1237A>G (p.Asn413Asp)	ZZZ3 (N413D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2270696	NM_015534.6(ZZZ3):c.1234C>A (p.Pro412Thr)	ZZZ3 (P412T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2378738	NM_015534.6(ZZZ3):c.1190C>T (p.Ser397Phe)	ZZZ3 (S397F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2232663	NM_015534.6(ZZZ3):c.1142C>T (p.Ser381Leu)	ZZZ3 (S381L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2250738	NM_015534.6(ZZZ3):c.1031A>C (p.Glu344Ala)	ZZZ3 (E344A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2405873	NM_015534.6(ZZZ3):c.976G>A (p.Ala326Thr)	ZZZ3 (A326T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2236609	NM_015534.6(ZZZ3):c.935G>A (p.Arg312Lys)	ZZZ3 (R312K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2492018	NM_015534.6(ZZZ3):c.854C>T (p.Ala285Val)	ZZZ3 (A285V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2217365	NM_015534.6(ZZZ3):c.838C>T (p.His280Tyr)	ZZZ3 (H280Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2509813	NM_015534.6(ZZZ3):c.820C>A (p.Gln274Lys)	ZZZ3 (Q274K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2300008	NM_015534.6(ZZZ3):c.817G>T (p.Val273Leu)	ZZZ3 (V273L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486192	NM_015534.6(ZZZ3):c.790C>A (p.His264Asn)	ZZZ3 (H264N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2469453	NM_015534.6(ZZZ3):c.789C>A (p.Asp263Glu)	ZZZ3 (D263E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2269111	NM_015534.6(ZZZ3):c.751A>G (p.Met251Val)	ZZZ3 (M251V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2511804	NM_015534.6(ZZZ3):c.736G>A (p.Asp246Asn)	ZZZ3 (D246N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2599242	NM_015534.6(ZZZ3):c.734C>T (p.Thr245Met)	ZZZ3 (T245M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1176506	NM_015534.6(ZZZ3):c.704A>G (p.Gln235Arg)	ZZZ3 (Q235R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2527238	NM_015534.6(ZZZ3):c.698T>G (p.Val233Gly)	ZZZ3 (V233G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2324588	NM_015534.6(ZZZ3):c.563T>G (p.Leu188Arg)	ZZZ3 (L188R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2617890	NM_015534.6(ZZZ3):c.320G>A (p.Arg107Lys)	ZZZ3 (R107K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2331197	NM_015534.6(ZZZ3):c.281A>G (p.Asp94Gly)	ZZZ3 (D94G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2618943	NM_015534.6(ZZZ3):c.278A>G (p.Lys93Arg)	ZZZ3 (K93R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2456830	NM_015534.6(ZZZ3):c.250A>G (p.Arg84Gly)	ZZZ3 (R84G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2408495	NM_015534.6(ZZZ3):c.48A>T (p.Leu16Phe)	ZZZ3 (L16F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2271322	NM_015534.6(ZZZ3):c.23G>A (p.Arg8His)	ZZZ3 (R8H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ADGRL4, AK5 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685477	GRCh37/hg19 1p31.1(chr1:78065699-78143108)x1	ZZZ3	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 686789	GRCh37/hg19 1p31.1(chr1:77954138-78053851)x3	AK5, ZZZ3	Copy number gain	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 442805	GRCh37/hg19 1p31.1(chr1:77823556-78281638)x1	AK5, MIGA1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	LHX8, MIGA1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 64