ClinVar for Gene (Select 3557) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247349	NC_000002.11:g.(?_113875596)_(113875625_?)del	IL1RN	Deletion	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic
Select item 3109284	NM_173842.3(IL1RN):c.77G>C (p.Arg26Pro)	IL1RN (R8P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109283	NM_173842.3(IL1RN):c.260G>A (p.Gly87Glu)	IL1RN (G53E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069200	NM_173842.3(IL1RN):c.46del (p.Leu16fs)	IL1RN (L16fs)	Deletion (frameshift variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely pathogenic
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062603	GRCh37/hg19 2q13(chr2:113717386-113892480)x1	IL1F10, IL1RN +4 more	Copy number loss	not specified	GUncertain significance
Select item 3053698	NM_173842.3(IL1RN):c.39T>A (p.Thr13=)	IL1RN	Single nucleotide variant (synonymous variant +1 more)	IL1RN-related disorder	GLikely benign
Select item 3018138	NM_173842.3(IL1RN):c.116+10C>A	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 3002379	NM_173841.3(IL1RN):c.10+18dup	IL1RN	Duplication (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 3000427	NM_173842.3(IL1RN):c.534G>A (p.Ter178=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2907776	NM_173842.3(IL1RN):c.315G>A (p.Leu105=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2906080	NM_173842.3(IL1RN):c.57C>G (p.Phe19Leu)	IL1RN (F19L)	Single nucleotide variant (missense variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2865890	NM_173841.3(IL1RN):c.11-17C>T	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2864111	NM_173842.3(IL1RN):c.205+15G>A	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2821013	NM_173841.3(IL1RN):c.25G>T (p.Glu9Ter)	IL1RN (E9*)	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic
Select item 2793189	NM_173842.3(IL1RN):c.111C>T (p.Ala37=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2784208	NM_173842.3(IL1RN):c.319-20G>T	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2771785	NM_173841.3(IL1RN):c.73+18T>C	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2759432	NM_173842.3(IL1RN):c.274C>T (p.Leu92=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2741579	NM_173842.3(IL1RN):c.159C>T (p.Asn53=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2741239	NM_173842.3(IL1RN):c.117-17G>C	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2731291	NM_173841.3(IL1RN):c.52G>T (p.Glu18Ter)	IL1RN (E18*)	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic
Select item 2717605	NM_173842.3(IL1RN):c.519C>T (p.Phe173=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2629610	NM_173842.3(IL1RN):c.141del (p.Phe48fs)	IL1RN (F14fs +3 more)	Deletion (frameshift variant)	IL1RN-related disorder	GLikely pathogenic
Select item 2623979	NM_173842.3(IL1RN):c.354G>T (p.Lys118Asn)	IL1RN (K121N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612638	NM_173842.3(IL1RN):c.71T>A (p.Ile24Asn)	IL1RN (I24N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427517	NC_000002.11:g.(?_113875596)_(113890448_?)dup	IL1RN	Duplication	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 2184872	NM_173842.3(IL1RN):c.444A>G (p.Thr148=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2183974	NM_173842.3(IL1RN):c.369C>T (p.Phe123=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2167241	NM_173842.3(IL1RN):c.114C>T (p.Phe38=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2144543	NM_173841.3(IL1RN):c.4G>T (p.Ala2Ser)	IL1RN (A2S)	Single nucleotide variant (missense variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 2135127	NM_173842.3(IL1RN):c.306_312del (p.Arg102fs)	IL1RN (R68fs +3 more)	Deletion (frameshift variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 2122091	NM_173842.3(IL1RN):c.258T>C (p.His86=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2115126	NM_173842.3(IL1RN):c.337C>T (p.Leu113=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2099783	NM_173842.3(IL1RN):c.396C>G (p.Pro132=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2098091	NM_173841.3(IL1RN):c.10+4A>G	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 2061900	NM_173842.3(IL1RN):c.380G>A (p.Arg127His)	IL1RN (R130H +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 2050355	NM_173841.3(IL1RN):c.10+14A>C	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 2031123	NM_173842.3(IL1RN):c.319-12T>C	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1979386	NM_173842.3(IL1RN):c.117-18A>C	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1974704	NM_173842.3(IL1RN):c.116+13C>T	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1952120	NM_173841.3(IL1RN):c.10+11T>C	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1942385	NM_173842.3(IL1RN):c.133C>T (p.Gln45Ter)	IL1RN (Q11* +3 more)	Single nucleotide variant (nonsense)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic
Select item 1942377	NM_173842.3(IL1RN):c.206-16del	IL1RN	Deletion (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GBenign
Select item 1928421	NM_173842.3(IL1RN):c.145T>C (p.Tyr49His)	IL1RN (Y15H +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1908729	NM_173841.3(IL1RN):c.18G>T (p.Leu6Phe)	IL1RN (L6F)	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1908710	NM_173842.3(IL1RN):c.97A>G (p.Ser33Gly)	IL1RN (S33G +2 more)	Single nucleotide variant (missense variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1694284	NM_173841.2(IL1RN):c.-95C>G	IL1RN	Single nucleotide variant (genic upstream transcript variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694283	NM_173842.3(IL1RN):c.423C>T (p.Cys141=)	IL1RN	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694282	NM_173842.3(IL1RN):c.422G>C (p.Cys141Ser)	IL1RN (C107S +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694281	NM_173842.3(IL1RN):c.318+9A>T	IL1RN	Single nucleotide variant (intron variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694280	NM_173842.3(IL1RN):c.288G>A (p.Lys96=)	IL1RN	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694279	NM_173842.3(IL1RN):c.207A>G (p.Glu69=)	IL1RN	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694278	NM_173841.3(IL1RN):c.19T>C (p.Tyr7His)	IL1RN (Y7H)	Single nucleotide variant (5 prime UTR variant +2 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1694277	NM_173841.3(IL1RN):c.10+2T>C	IL1RN	Single nucleotide variant (splice donor variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 1693817	NM_173842.3(IL1RN):c.390_391inv (p.Gly131Ser)	IL1RN (G113S +3 more)	Inversion (missense variant)	not provided +1 more	GUncertain significance
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1674395	NM_173842.3(IL1RN):c.206-11T>C	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1652731	NM_173842.3(IL1RN):c.116+15A>G	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +1 more	GLikely benign
Select item 1636587	NM_173842.3(IL1RN):c.417C>T (p.Ala139=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1610875	NM_173841.3(IL1RN):c.73+10T>C	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1610702	NM_173842.3(IL1RN):c.261A>G (p.Gly87=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +1 more	GLikely benign
Select item 1609176	NM_173842.3(IL1RN):c.319-16_319-12del	IL1RN	Deletion (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1597867	NM_173842.3(IL1RN):c.318+17G>A	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1595653	NM_173841.3(IL1RN):c.11-16A>C	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1594057	NM_173842.3(IL1RN):c.447G>A (p.Ala149=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1589395	NM_173842.3(IL1RN):c.426C>G (p.Pro142=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1589345	NM_173842.3(IL1RN):c.319-17C>T	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GBenign
Select item 1581909	NM_173842.3(IL1RN):c.243G>A (p.Leu81=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1572045	NM_173842.3(IL1RN):c.300G>A (p.Glu100=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +2 more	GLikely benign
Select item 1567425	NM_173842.3(IL1RN):c.156C>T (p.Asn52=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1551301	NM_173841.3(IL1RN):c.48A>G (p.Glu16=)	IL1RN	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1522112	NM_173842.3(IL1RN):c.377T>C (p.Ile126Thr)	IL1RN (I129T +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1521007	NM_173842.3(IL1RN):c.427G>A (p.Gly143Ser)	IL1RN (G146S +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1520575	NM_173842.3(IL1RN):c.343G>A (p.Glu115Lys)	IL1RN (E115K +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1513433	NM_173842.3(IL1RN):c.99C>G (p.Ser33Arg)	IL1RN (S15R +2 more)	Single nucleotide variant (missense variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1496125	NM_173842.3(IL1RN):c.77G>A (p.Arg26Gln)	IL1RN (R29Q +2 more)	Single nucleotide variant (missense variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis +2 more	GUncertain significance
Select item 1471588	NM_173842.3(IL1RN):c.380G>T (p.Arg127Leu)	IL1RN (R109L +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1459348	NC_000002.11:g.(?_113817016)_(113890448_?)del	IL1F10, IL1RN +1 more	Deletion	Generalized pustular psoriasis +1 more	GPathogenic
Select item 1450192	NM_173842.3(IL1RN):c.526G>T (p.Asp176Tyr)	IL1RN (D158Y +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1446677	NM_173842.3(IL1RN):c.259G>A (p.Gly87Arg)	IL1RN (G53R +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1443020	NM_173842.3(IL1RN):c.241C>G (p.Leu81Val)	IL1RN (L63V +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +1 more	GConflicting classifications of pathogenicity
Select item 1422467	NM_173841.3(IL1RN):c.20A>G (p.Tyr7Cys)	IL1RN (Y7C)	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1418682	NM_173842.3(IL1RN):c.364C>T (p.Arg122Cys)	IL1RN (R122C +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1413551	NM_173841.3(IL1RN):c.16T>G (p.Leu6Val)	IL1RN (L6V)	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1409769	NM_173842.3(IL1RN):c.342C>T (p.Ser114=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1398201	NM_173842.3(IL1RN):c.476C>T (p.Thr159Ile)	IL1RN (T125I +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1370710	NM_173842.3(IL1RN):c.210G>T (p.Lys70Asn)	IL1RN (K36N +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1364268	NM_173842.3(IL1RN):c.366C>T (p.Arg122=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1353598	NM_173842.3(IL1RN):c.173G>T (p.Gly58Val)	IL1RN (G24V +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1341214	GRCh37/hg19 2q13(chr2:113295194-114085649)x3	CHCHD5, CKAP2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 1340383	GRCh37/hg19 2q13-14.1(chr2:113609489-115817535)x3	ACTR3, CBWD2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339474	NC_000002.12:g.(?_112924872)_(113105404_?)del	IL1F10, IL1RN +11 more	Deletion	Endometriosis	GUncertain significance
Select item 1294769	NM_173842.3(IL1RN):c.205+97A>C	IL1RN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1294768	NM_173842.3(IL1RN):c.206-157A>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294767	NM_173842.3(IL1RN):c.205+21C>T	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294763	NM_173842.3(IL1RN):c.206-152C>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign

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