USP18[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	ADA2, ATP6V1E1 +112 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	BID, CECR2 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 154503	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 154375	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	ADA2, ATP6V1E1 +121 more	Copy number gain	See cases	GPathogenic
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	LOC130066953, LOC130066954 +227 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	ADA2, ARVCF +226 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067011, LOC130067012 +535 more	Copy number gain	See cases	GPathogenic
Select item 57427	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +225 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +225 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	ADA2, AIFM3 +292 more	Copy number gain	See cases	GPathogenic
Select item 149666	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 149401	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144589	GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	ADA2, ATP6V1E1 +151 more	Copy number gain	See cases	GPathogenic
Select item 59280	GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3	DGCR6, FAM230A +29 more	Copy number gain	See cases	GPathogenic
Select item 147730	GRCh38/hg38 22q11.21(chr22:18087546-19196905)x3	CLTCL1, DGCR11 +38 more	Copy number gain	See cases	GPathogenic
Select item 152134	GRCh38/hg38 22q11.21(chr22:18127193-18168847)x3	LOC130066946, LOC130066947 +2 more	Copy number gain	See cases	GBenign
Select item 160947	GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	CLDN5, AIFM3 +189 more	Copy number loss	See cases	GPathogenic
Select item 148923	GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 33017	GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	TSSK2, TXNRD2 +189 more	Copy number loss	See cases	GPathogenic
Select item 145469	GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 2628193	NM_017414.4(USP18):c.-106-25G>A	USP18	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2378674	NM_017414.4(USP18):c.5G>A (p.Ser2Asn)	USP18 (S2N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790895	NM_017414.4(USP18):c.73G>A (p.Asp25Asn)	USP18 (D25N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2216930	NM_017414.4(USP18):c.80A>G (p.Glu27Gly)	USP18 (E27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 759892	NM_017414.4(USP18):c.97G>A (p.Asp33Asn)	USP18 (D33N)	Single nucleotide variant (missense variant)	USP18-related condition +1 more	GLikely benign
Select item 2229828	NM_017414.4(USP18):c.113G>A (p.Arg38Lys)	USP18 (R38K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 153292	GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3	AIFM3, ARVCF +187 more	Copy number gain	See cases	GPathogenic
Select item 545257	NC_000022.11:g.(?_18159879)_(21387988_?)del	AIFM3, ARVCF +196 more	Deletion	Schizophrenia	GPathogenic
Select item 545256	NC_000022.11:g.(?_18159879)_(21362822_?)del	AIFM3, ARVCF +195 more	Deletion	Schizophrenia	GPathogenic
Select item 785677	NM_017414.4(USP18):c.158-5T>G	USP18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 723623	NM_017414.4(USP18):c.219C>T (p.Phe73=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691586	NM_017414.4(USP18):c.220G>A (p.Val74Ile)	USP18 (V74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153966	GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 2284031	NM_017414.4(USP18):c.355C>T (p.Arg119Trp)	USP18 (R119W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 545258	NC_000022.11:g.(?_18163926)_(21277123_?)del	PI4KA, PRODH +192 more	Deletion	Schizophrenia	GPathogenic
Select item 154119	GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1	LOC130066995, LOC130066996 +187 more	Copy number loss	See cases	GPathogenic
Select item 2688152	NM_017414.4(USP18):c.401-100A>G	USP18	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 57556	GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 57555	GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3	AIFM3, ARVCF +187 more	Copy number gain	See cases	GPathogenic
Select item 2628216	NM_017414.4(USP18):c.506C>T (p.Thr169Met)	USP18 (T169M)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2249919	NM_017414.4(USP18):c.511C>T (p.Arg171Trp)	USP18 (R171W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558493	NM_017414.4(USP18):c.534C>T (p.Cys178=)	USP18	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3187208	NM_017414.4(USP18):c.535G>A (p.Val179Ile)	USP18 (V179I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187209	NM_017414.4(USP18):c.553A>T (p.Ser185Cys)	USP18 (S185C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187210	NM_017414.4(USP18):c.554G>A (p.Ser185Asn)	USP18 (S185N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 145982	GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3	LOC129391262, LOC129391263 +186 more	Copy number gain	See cases	GPathogenic
Select item 762034	NM_017414.4(USP18):c.633C>T (p.Asp211=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 417774	NM_017414.4(USP18):c.652C>T (p.Gln218Ter)	USP18 (Q218*)	Single nucleotide variant (nonsense)	Pseudo-TORCH syndrome 2	GLikely pathogenic
Select item 58171	GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3	AIFM3, ARVCF +202 more	Copy number gain	See cases	GPathogenic
Select item 2602623	NM_017414.4(USP18):c.672C>G (p.Ser224Arg)	USP18 (S224R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268450	NM_017414.4(USP18):c.712C>A (p.Arg238Ser)	USP18 (R238S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 752912	NM_017414.4(USP18):c.798G>A (p.Thr266=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3187211	NM_017414.4(USP18):c.820T>A (p.Tyr274Asn)	USP18 (Y274N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506027	NM_017414.4(USP18):c.891+1G>T	USP18	Single nucleotide variant (splice donor variant)	Pseudo-TORCH syndrome 2	GLikely pathogenic
Select item 2628187	NM_017414.4(USP18):c.892-57G>A	USP18	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 793493	NM_017414.4(USP18):c.894T>C (p.Ser298=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2386333	NM_017414.4(USP18):c.907G>A (p.Glu303Lys)	USP18 (E303K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2285079	NM_017414.4(USP18):c.947C>G (p.Ser316Cys)	USP18 (S316C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748037	NM_017414.4(USP18):c.948C>T (p.Ser316=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780631	NM_017414.4(USP18):c.967A>G (p.Ile323Val)	USP18 (I323V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3187212	NM_017414.4(USP18):c.971G>A (p.Arg324Gln)	USP18 (R324Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781908	NM_017414.4(USP18):c.974A>G (p.Asn325Ser)	USP18 (N325S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 742098	NM_017414.4(USP18):c.1017T>A (p.Ile339=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810842	NM_017414.4(USP18):c.1073+1G>A	USP18	Single nucleotide variant (splice donor variant)	Pseudo-TORCH syndrome 2	GPathogenic/Likely pathogenic
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148919	GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3	ARVCF, C22orf39 +37 more	Copy number gain	See cases	GPathogenic
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2684926	GRCh37/hg19 22q11.21(chr22:18291253-18644791)x3	MICAL3, PEX26 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684925	GRCh37/hg19 22q11.21(chr22:18253057-18649190)x3	BID, MICAL3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Immunodeficiency 51 +1 more	GPathogenic
Select item 1808910	GRCh37/hg19 22q11.21(chr22:18560247-18916828)x3	DGCR6, PEX26 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808875	GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1	MRPL40, PRODH +37 more	Copy number loss	not provided	GPathogenic
Select item 1808642	GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1	C22orf39, CDC45 +49 more	Copy number loss	not provided	GPathogenic
Select item 1808620	GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3	LZTR1, KLHL22 +49 more	Copy number gain	not provided	GPathogenic
Select item 1808457	GRCh37/hg19 22q11.1-11.21(chr22:17570796-19695101)x1	ADA2, ATP6V1E1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 1808077	GRCh37/hg19 22q11.21(chr22:18648867-20311858)x3	ARVCF, C22orf39 +28 more	Copy number gain	not provided	GPathogenic
Select item 1807705	GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1807693	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18916828)x3	ADA2, ATP6V1E1 +17 more	Copy number gain	not provided	GPathogenic
Select item 1807686	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18649190)x4	BCL2L13, BID +15 more	Copy number gain	not provided	GPathogenic
Select item 1708200	GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	See cases	GPathogenic
Select item 1707629	GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1	AIFM3, ESS2 +47 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1707626	GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1	USP18, USP41 +52 more	Copy number loss	Syndromic anorectal malformation	GPathogenic
Select item 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703643	GRCh37/hg19 22q11.21(chr22:18648866-21798907)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703642	GRCh37/hg19 22q11.21(chr22:18644790-21800471)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703640	GRCh37/hg19 22q11.21(chr22:18644790-21798907)	ESS2, FAM230A +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703639	GRCh37/hg19 22q11.21(chr22:18645353-21800797)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1676305	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4	HDHD5, IL17RA +15 more	Copy number gain	Cat eye syndrome	GPathogenic
Select item 1341298	GRCh37/hg19 22q11.21(chr22:18626109-19285816)x1	CLTCL1, DGCR2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1341144	GRCh37/hg19 22q11.21(chr22:18505502-19024659)x3	DGCR2, DGCR6 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1330197	GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1	AIFM3, ARVCF +47 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1321995	GRCh37/hg19 22q11.1-11.21(chr22:16850000-18885000)x3	TMEM121B, ADA2 +15 more	Copy number gain	See cases	GPathogenic

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