USP33[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 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 2340353	NM_201624.3(USP33):c.2599T>G (p.Ser867Ala)	USP33 (S768A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187433	NM_201624.3(USP33):c.2537A>G (p.Lys846Arg)	USP33 (K869R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358746	NM_201624.3(USP33):c.2443A>G (p.Thr815Ala)	USP33 (T747A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336931	NM_201624.3(USP33):c.2441C>G (p.Ala814Gly)	USP33 (A666G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457150	NM_201624.3(USP33):c.2416G>A (p.Ala806Thr)	USP33 (A707T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187432	NM_201624.3(USP33):c.2167G>A (p.Ala723Thr)	USP33 (A723T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553641	NM_201624.3(USP33):c.2160G>C (p.Lys720Asn)	USP33 (K743N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187431	NM_201624.3(USP33):c.2089A>C (p.Asn697His)	USP33 (N697H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509922	NM_201624.3(USP33):c.2073G>C (p.Glu691Asp)	USP33 (E691D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321174	NM_201624.3(USP33):c.2069A>G (p.Lys690Arg)	USP33 (K713R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401491	NM_201624.3(USP33):c.1822G>A (p.Gly608Ser)	USP33 (G460S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638891	NM_201624.3(USP33):c.1814C>T (p.Pro605Leu)	USP33 (P457L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2253996	NM_201624.3(USP33):c.1546A>G (p.Met516Val)	USP33 (M368V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337403	NM_201624.3(USP33):c.1510G>A (p.Glu504Lys)	USP33 (E356K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228568	NM_201624.3(USP33):c.1486A>G (p.Ile496Val)	USP33 (I496V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351483	NM_201624.3(USP33):c.1354A>G (p.Ile452Val)	USP33 (I452V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187430	NM_201624.3(USP33):c.1283C>G (p.Ser428Cys)	USP33 (S428C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187428	NM_201624.3(USP33):c.1264C>G (p.Pro422Ala)	USP33 (P274A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267228	NM_201624.3(USP33):c.1210C>T (p.Arg404Cys)	USP33 (R435C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611796	NM_201624.3(USP33):c.1205A>G (p.Asn402Ser)	USP33 (N402S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239426	NM_201624.3(USP33):c.1120C>T (p.His374Tyr)	USP33 (H226Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549060	NM_201624.3(USP33):c.1102A>G (p.Thr368Ala)	USP33 (T399A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487432	NM_201624.3(USP33):c.1052A>G (p.Asp351Gly)	USP33 (D203G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404098	NM_201624.3(USP33):c.782T>C (p.Met261Thr)	USP33 (M261T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493558	NM_201624.3(USP33):c.680A>T (p.Lys227Ile)	USP33 (K227I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480137	NM_201624.3(USP33):c.617C>T (p.Thr206Ile)	USP33 (T237I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616333	NM_201624.3(USP33):c.530C>T (p.Pro177Leu)	USP33 (P208L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187436	NM_201624.3(USP33):c.526C>T (p.Pro176Ser)	USP33 (P207S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270174	NM_201624.3(USP33):c.485C>G (p.Thr162Ser)	USP33 (T162S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603780	NM_201624.3(USP33):c.331A>G (p.Ile111Val)	USP33 (I111V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187435	NM_201624.3(USP33):c.292A>G (p.Thr98Ala)	USP33 (T129A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187434	NM_201624.3(USP33):c.244T>A (p.Trp82Arg)	USP33 (W82R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395537	NM_201624.3(USP33):c.196C>G (p.Gln66Glu)	USP33 (Q97E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544712	NM_201624.3(USP33):c.173T>C (p.Val58Ala)	USP33 (V89A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278582	NM_201624.3(USP33):c.91C>G (p.Gln31Glu)	USP33 (Q31E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239497	NM_201624.3(USP33):c.77C>G (p.Ser26Cys)	USP33 (S26C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187429	NM_201624.3(USP33):c.43G>A (p.Gly15Ser)	USP33 (G15S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374588	NM_201624.3(USP33):c.-27G>A	USP33 (G23R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	MCOLN2, MCOLN3 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807777	GRCh37/hg19 1p31.1(chr1:78166007-78226182)x1	USP33	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 686509	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686133	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	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 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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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	ACADM, ADGRL4 +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: 56