ClinVar for Gene (Select 9636) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247846	NC_000001.10:g.(?_948954)_(949858_?)dup	ISG15	Duplication	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 3110995	NM_005101.4(ISG15):c.337G>A (p.Gly113Arg)	ISG15 (G113R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3050573	NM_005101.4(ISG15):c.*4C>A	ISG15	Single nucleotide variant (3 prime UTR variant)	ISG15-related disorder	GLikely benign
Select item 3040451	NM_005101.4(ISG15):c.-21CACAGCC[1]	ISG15	Microsatellite (5 prime UTR variant)	ISG15-related disorder	GLikely benign
Select item 2976026	NM_005101.4(ISG15):c.4-4G>T	ISG15	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2913301	NM_005101.4(ISG15):c.453T>C (p.Asn151=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2895660	NM_005101.4(ISG15):c.225G>A (p.Val75=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GLikely benign
Select item 2890741	NM_005101.4(ISG15):c.234C>T (p.Cys78=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2836779	NM_005101.4(ISG15):c.41A>T (p.Glu14Val)	ISG15 (E14V)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2832527	NM_005101.4(ISG15):c.301A>G (p.Thr101Ala)	ISG15 (T101A)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2777295	NM_005101.4(ISG15):c.207C>T (p.Ser69=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2721818	NM_005101.4(ISG15):c.429G>A (p.Lys143=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2706162	NM_005101.4(ISG15):c.4-11G>T	ISG15	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2685786	GRCh37/hg19 1p36.33(chr1:849467-1207958)x3	AGRN, B3GALT6 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685255	GRCh37/hg19 1p36.33(chr1:849467-1089576)x1	AGRN, C1orf159 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2425297	NC_000001.10:g.(?_861322)_(948976_?)dup	HES4, ISG15 +4 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2257108	NM_005101.4(ISG15):c.494G>A (p.Ser165Asn)	ISG15 (S165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2190579	NM_005101.4(ISG15):c.487G>A (p.Gly163Arg)	ISG15 (G163R)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2165426	NM_005101.4(ISG15):c.146C>T (p.Pro49Leu)	ISG15 (P49L)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2163956	NM_005101.4(ISG15):c.289G>A (p.Glu97Lys)	ISG15 (E97K)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2156373	NM_005101.4(ISG15):c.319C>G (p.Leu107Val)	ISG15 (L107V)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2144316	NM_005101.4(ISG15):c.458G>A (p.Arg153His)	ISG15 (R153H)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2133800	NM_005101.4(ISG15):c.372G>A (p.Leu124=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2123900	NM_005101.4(ISG15):c.244C>T (p.Leu82=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2108530	NM_005101.4(ISG15):c.339G>A (p.Gly113=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2085710	NM_005101.4(ISG15):c.285del (p.Tyr96fs)	ISG15 (Y96fs)	Deletion (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2085125	NM_005101.4(ISG15):c.17C>T (p.Thr6Met)	ISG15 (T6M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2046714	NM_005101.4(ISG15):c.369G>T (p.Trp123Cys)	ISG15 (W123C)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2046429	NM_005101.4(ISG15):c.321G>A (p.Leu107=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2041786	NM_005101.4(ISG15):c.400C>A (p.Gln134Lys)	ISG15 (Q134K)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2012325	NM_005101.4(ISG15):c.3+5G>C	ISG15	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2010869	NM_005101.4(ISG15):c.412G>C (p.Gly138Arg)	ISG15 (G138R)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2007351	NM_005101.4(ISG15):c.497A>G (p.Ter166=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1974783	NM_005101.4(ISG15):c.441C>T (p.Thr147=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1960011	NM_005101.4(ISG15):c.118G>A (p.Ala40Thr)	ISG15 (A40T)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1951973	NM_005101.4(ISG15):c.431C>T (p.Pro144Leu)	ISG15 (P144L)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1948866	NM_005101.4(ISG15):c.286dup (p.Tyr96fs)	ISG15 (Y96fs)	Duplication (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1923926	NM_005101.4(ISG15):c.246G>A (p.Leu82=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1913523	NM_005101.4(ISG15):c.159G>A (p.Ala53=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808116	GRCh37/hg19 1p36.33(chr1:849467-1174365)x3	AGRN, B3GALT6 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1807723	GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	ACAP3, ACTRT2 +63 more	Copy number loss	not provided	GPathogenic
Select item 1706500	GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	ACAP3, AGRN +60 more	Copy number loss	See cases	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703628	GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	ACAP3, ACTRT2 +76 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1703627	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	TNFRSF18, TNFRSF4 +77 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1673004	NM_005101.4(ISG15):c.306G>A (p.Gln102=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1668319	NM_005101.4(ISG15):c.288C>T (p.Tyr96=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1663977	NM_005101.4(ISG15):c.82C>T (p.Leu28=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1646622	NM_005101.4(ISG15):c.420C>T (p.Tyr140=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1644340	NM_005101.4(ISG15):c.151G>T (p.Gly51Cys)	ISG15 (G51C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1623717	NM_005101.4(ISG15):c.408G>A (p.Pro136=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1610388	NM_005101.4(ISG15):c.90G>T (p.Ala30=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1590244	NM_005101.4(ISG15):c.486C>T (p.Gly162=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GLikely benign
Select item 1577559	NM_005101.4(ISG15):c.72G>A (p.Ser24=)	ISG15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1572131	NM_005101.4(ISG15):c.108C>T (p.Ile36=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1542743	NM_005101.4(ISG15):c.441C>G (p.Thr147=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1505596	NM_005101.4(ISG15):c.209C>T (p.Thr70Met)	ISG15 (T70M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GUncertain significance
Select item 1494456	NM_005101.4(ISG15):c.254T>C (p.Leu85Pro)	ISG15 (L85P)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1491392	NM_005101.4(ISG15):c.388C>A (p.Pro130Thr)	ISG15 (P130T)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1474952	NM_005101.4(ISG15):c.175C>T (p.Pro59Ser)	ISG15 (P59S)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1473644	NM_005101.4(ISG15):c.100C>G (p.Gln34Glu)	ISG15 (Q34E)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1463858	NM_005101.4(ISG15):c.448A>G (p.Met150Val)	ISG15 (M150V)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1445818	NM_005101.4(ISG15):c.444_445del (p.Phe149fs)	ISG15 (F149fs)	Microsatellite (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1440345	NM_005101.4(ISG15):c.490C>T (p.Arg164Trp)	ISG15 (R164W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1412663	NC_000001.10:g.(?_861322)_(3768971_?)del	AGRN, MIB2 +74 more	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1403707	NM_005101.4(ISG15):c.65C>T (p.Ser22Phe)	ISG15 (S22F)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1396122	NM_005101.4(ISG15):c.256G>A (p.Val86Met)	ISG15 (V86M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1360941	NM_005101.4(ISG15):c.71C>T (p.Ser24Leu)	ISG15 (S24L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354468	NM_005101.4(ISG15):c.83T>A (p.Leu28Gln)	ISG15 (L28Q)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GConflicting classifications of pathogenicity
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341246	GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	ACAP3, AGRN +62 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1328099	GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	ACAP3, ACTRT2 +76 more	Copy number loss	not provided	GPathogenic
Select item 1185395	NM_005101.4(ISG15):c.4-129G>A	ISG15	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GBenign
Select item 1185394	NM_005101.4(ISG15):c.-33T>C	ISG15	Single nucleotide variant (5 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GBenign
Select item 1185393	NM_005101.4(ISG15):c.-84C>G	ISG15	Single nucleotide variant	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GBenign
Select item 1185392	NM_005101.4(ISG15):c.-108_-107insA	ISG15	Duplication	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GBenign
Select item 1170512	NM_005101.4(ISG15):c.219G>T (p.Leu73=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GBenign
Select item 1166514	NM_005101.4(ISG15):c.294A>G (p.Val98=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +2 more	GBenign
Select item 1165230	NM_005101.4(ISG15):c.33G>A (p.Ala11=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GBenign
Select item 1162796	NM_005101.4(ISG15):c.95T>A (p.Ile32Asn)	ISG15 (I32N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GUncertain significance
Select item 1160142	NM_005101.4(ISG15):c.210G>A (p.Thr70=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1157490	NM_005101.4(ISG15):c.90G>A (p.Ala30=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1149767	NM_005101.4(ISG15):c.303G>A (p.Thr101=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1139345	NM_005101.4(ISG15):c.193C>T (p.Leu65=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1136240	NM_005101.4(ISG15):c.6C>T (p.Gly2=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1134714	NM_005101.4(ISG15):c.409C>T (p.Leu137=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1129806	NM_005101.4(ISG15):c.405C>T (p.Leu135=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1126488	NM_005101.4(ISG15):c.402G>A (p.Gln134=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1118824	NM_005101.4(ISG15):c.18G>A (p.Thr6=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1114000	NM_005101.4(ISG15):c.201C>T (p.Pro67=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign

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