ClinVar for Gene (Select 11274) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331354	NM_017414.4(USP18):c.740A>G (p.His247Arg)	USP18 (H247R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331353	NM_017414.4(USP18):c.166G>T (p.Gly56Cys)	USP18 (G56C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331352	NM_017414.4(USP18):c.473T>C (p.Val158Ala)	USP18 (V158A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331351	NM_017414.4(USP18):c.970C>T (p.Arg324Trp)	USP18 (R324W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331350	NM_017414.4(USP18):c.535G>C (p.Val179Leu)	USP18 (V179L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3242337	GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
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 3187211	NM_017414.4(USP18):c.820T>A (p.Tyr274Asn)	USP18 (Y274N)	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 3187209	NM_017414.4(USP18):c.553A>T (p.Ser185Cys)	USP18 (S185C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2691586	NM_017414.4(USP18):c.220G>A (p.Val74Ile)	USP18 (V74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688152	NM_017414.4(USP18):c.401-100A>G	USP18	Single nucleotide variant (intron variant)	not specified	GBenign
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 2628216	NM_017414.4(USP18):c.506C>T (p.Thr169Met)	USP18 (T169M)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2628193	NM_017414.4(USP18):c.-106-25G>A	USP18	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628187	NM_017414.4(USP18):c.892-57G>A	USP18	Single nucleotide variant (intron variant)	not specified	GBenign
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 2558493	NM_017414.4(USP18):c.534C>T (p.Cys178=)	USP18	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	ADA2, ATP6V1E1 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Vasculitis due to ADA2 deficiency +1 more	GPathogenic
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 2378674	NM_017414.4(USP18):c.5G>A (p.Ser2Asn)	USP18 (S2N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2284031	NM_017414.4(USP18):c.355C>T (p.Arg119Trp)	USP18 (R119W)	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 2249919	NM_017414.4(USP18):c.511C>T (p.Arg171Trp)	USP18 (R171W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2216930	NM_017414.4(USP18):c.80A>G (p.Glu27Gly)	USP18 (E27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
Select item 997047	GRCh37/hg19 22q11.21(chr22:18628019-20311763)	CLDN5, CLTCL1 +28 more	Copy number gain	Motor delay +1 more	GPathogenic
Select item 988911	GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4	ADA2, AIFM3 +62 more	Copy number gain	not provided	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 983173	GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3	AIFM3, ARVCF +47 more	Copy number gain	See cases	GPathogenic
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 980803	GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4	AIFM3, ARVCF +46 more	Copy number gain	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 816196	GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3	ADA2, AIFM3 +76 more	Copy number gain	not provided	GPathogenic
Select item 816195	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4	CCT8L2, BCL2L13 +15 more	Copy number gain	not provided	GPathogenic
Select item 816193	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1	ADA2, ARVCF +49 more	Copy number loss	not provided	GPathogenic
Select item 816192	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x4	TUBA8, USP18 +17 more	Copy number gain	not provided	GPathogenic
Select item 816190	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1	CECR3, HIRA +42 more	Copy number loss	not provided	GPathogenic
Select item 812919	Single allele	AIFM3, ARVCF +76 more	Deletion	DiGeorge syndrome	GPathogenic
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 793493	NM_017414.4(USP18):c.894T>C (p.Ser298=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790895	NM_017414.4(USP18):c.73G>A (p.Asp25Asn)	USP18 (D25N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785677	NM_017414.4(USP18):c.158-5T>G	USP18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781908	NM_017414.4(USP18):c.974A>G (p.Asn325Ser)	USP18 (N325S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780631	NM_017414.4(USP18):c.967A>G (p.Ile323Val)	USP18 (I323V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 762034	NM_017414.4(USP18):c.633C>T (p.Asp211=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 759892	NM_017414.4(USP18):c.97G>A (p.Asp33Asn)	USP18 (D33N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 752912	NM_017414.4(USP18):c.798G>A (p.Thr266=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748037	NM_017414.4(USP18):c.948C>T (p.Ser316=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742098	NM_017414.4(USP18):c.1017T>A (p.Ile339=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723623	NM_017414.4(USP18):c.219C>T (p.Phe73=)	USP18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688922	GRCh37/hg19 22q11.21(chr22:18648866-19024659)x1	DGCR2, DGCR6 +2 more	Copy number loss	not provided	GUncertain significance
Select item 687717	GRCh37/hg19 22q11.21(chr22:18649189-19004731)x1	DGCR6, PRODH +1 more	Copy number loss	not provided	GUncertain significance
Select item 686369	GRCh37/hg19 22q11.21(chr22:18648866-19004736)x1	DGCR6, PRODH +1 more	Copy number loss	not provided	GUncertain significance
Select item 686107	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685108	GRCh37/hg19 22q11.21(chr22:18649189-19024657)x1	DGCR2, DGCR6 +2 more	Copy number loss	not provided	GUncertain significance
Select item 685058	GRCh37/hg19 22q11.21(chr22:18648866-19004772)x1	DGCR6, PRODH +1 more	Copy number loss	not provided	GUncertain significance
Select item 684996	GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 636287	GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3	CLDN5, AIFM3 +52 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 636285	GRCh37/hg19 22q11.21(chr22:18648855-21461017)x3	TANGO2, TBX1 +46 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 636283	GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1	C22orf39, AIFM3 +49 more	Copy number loss	Velocardiofacial syndrome +1 more	GPathogenic
Select item 636281	GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1	MRPL40, TANGO2 +49 more	Copy number loss	Velocardiofacial syndrome +1 more	GPathogenic
Select item 635901	Single allele	ADA2, ARVCF +43 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625807	GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922)	ADA2, ARVCF +43 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625806	GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474)	ADA2, ARVCF +42 more	Copy number gain	not provided	GPathogenic
Select item 625587	GRCh37/hg19 22q11.21(chr22:18650803-21386010)	AIFM3, ARVCF +46 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625585	GRCh37/hg19 22q11.21(chr22:18650803-21460220)	AIFM3, ARVCF +46 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic

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