3557[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339474	NC_000002.12:g.(?_112924872)_(113105404_?)del	IL1F10, IL1RN +11 more	Deletion	Endometriosis	GUncertain significance
Select item 59937	GRCh38/hg38 2q14.1(chr2:112924872-113105404)x1	IL1F10, IL1RN +11 more	Copy number loss	See cases	GUncertain significance
Select item 1249883	NC_000002.12:g.113117640A>C	IL1RN	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1294755	NC_000002.12:g.113117851G>A	IL1RN	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1694284	NM_173841.2(IL1RN):c.-95C>G	IL1RN	Single nucleotide variant (genic upstream transcript variant)	Autoinflammatory syndrome	GUncertain significance
Select item 330817	NM_173841.2(IL1RN):c.-87G>A	IL1RN	Single nucleotide variant (genic upstream transcript variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +2 more	GBenign
Select item 330818	NM_173841.2(IL1RN):c.-83G>A	IL1RN	Single nucleotide variant (genic upstream transcript variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 330819	NM_173841.2(IL1RN):c.-71A>G	IL1RN	Single nucleotide variant (genic upstream transcript variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 330820	NM_173841.3(IL1RN):c.-31A>G	IL1RN	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 330821	NM_173841.3(IL1RN):c.-12G>C	IL1RN	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
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 953776	NM_173841.3(IL1RN):c.4G>A (p.Ala2Thr)	IL1RN (A2T)	Single nucleotide variant (missense variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	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 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 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 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 3002379	NM_173841.3(IL1RN):c.10+18dup	IL1RN	Duplication (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1244315	NM_173841.3(IL1RN):c.10+26T>C	IL1RN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1258566	NM_173841.3(IL1RN):c.10+148C>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233998	NM_173841.3(IL1RN):c.10+168A>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232909	NM_173841.3(IL1RN):c.11-230G>T	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266807	NM_173841.3(IL1RN):c.11-148G>T	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241633	NM_173841.3(IL1RN):c.11-105G>C	IL1RN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 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 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 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 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 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 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 1009294	NM_173841.3(IL1RN):c.26A>T (p.Glu9Val)	IL1RN (E9V)	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 567545	NM_173841.3(IL1RN):c.28G>C (p.Gly10Arg)	IL1RN (G10R)	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 655646	NM_173841.3(IL1RN):c.44G>A (p.Gly15Glu)	IL1RN (G15E)	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis +1 more	GUncertain significance
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 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 572109	NM_173841.3(IL1RN):c.58A>C (p.Asn20His)	IL1RN (N20H)	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1107434	NM_173841.3(IL1RN):c.66C>T (p.Asp22=)	IL1RN	Single nucleotide variant (5 prime UTR variant +2 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis +1 more	GConflicting classifications of pathogenicity
Select item 330822	NM_173841.3(IL1RN):c.73+8A>C	IL1RN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 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 1164726	NM_173841.3(IL1RN):c.73+19C>T	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GBenign
Select item 183260	NM_173842.1(IL1RN):c.-64_1696del	IL1RN	Deletion	not provided	Gnot provided
Select item 444515	NM_173842.3(IL1RN):c.23G>A (p.Arg8His)	IL1RN (R8H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3053698	NM_173842.3(IL1RN):c.39T>A (p.Thr13=)	IL1RN	Single nucleotide variant (synonymous variant +1 more)	IL1RN-related condition	GLikely benign
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 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 444516	NM_173842.3(IL1RN):c.62C>G (p.Ser21Ter)	IL1RN (S21*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 559539	NM_173842.3(IL1RN):c.63A>G (p.Ser21=)	IL1RN	Single nucleotide variant (synonymous variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GConflicting classifications of pathogenicity
Select item 827981	NM_173842.3(IL1RN):c.68C>T (p.Thr23Met)	IL1RN (T23M +2 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +3 more	GUncertain significance
Select item 330823	NM_173842.3(IL1RN):c.69G>A (p.Thr23=)	IL1RN	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
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 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 1496125	NM_173842.3(IL1RN):c.77G>A (p.Arg26Gln)	IL1RN (R29Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 537713	NM_173842.3(IL1RN):c.79C>T (p.Pro27Ser)	IL1RN (P30S +2 more)	Single nucleotide variant (missense variant +1 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 (5 prime UTR variant +1 more)	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 1118056	NM_173842.3(IL1RN):c.108A>G (p.Gln36=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 656964	NM_173842.3(IL1RN):c.109G>T (p.Ala37Ser)	IL1RN (A19S +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
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 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 330824	NM_173842.3(IL1RN):c.116+5G>A	IL1RN	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GBenign
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 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 1652731	NM_173842.3(IL1RN):c.116+15A>G	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 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 752447	NM_173842.3(IL1RN):c.117-9C>T	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GConflicting classifications of pathogenicity
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 2629610	NM_173842.3(IL1RN):c.141del (p.Phe48fs)	IL1RN (F14fs +3 more)	Deletion (frameshift variant)	IL1RN-related condition	GLikely pathogenic
Select item 1157314	NM_173842.3(IL1RN):c.141C>G (p.Thr47=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
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 97905	NM_173842.3(IL1RN):c.156_157del (p.Asn52fs)	IL1RN (N18fs +3 more)	Deletion (frameshift variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic
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 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 14676	NM_173842.3(IL1RN):c.160C>T (p.Gln54Ter)	IL1RN (Q54* +3 more)	Single nucleotide variant (nonsense)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic
Select item 893643	NM_173842.3(IL1RN):c.166G>A (p.Val56Ile)	IL1RN (V22I +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 948707	NM_173842.3(IL1RN):c.169G>T (p.Ala57Ser)	IL1RN (A60S +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 330825	NM_173842.3(IL1RN):c.171T>C (p.Ala57=)	IL1RN	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign
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 660469	NM_173842.3(IL1RN):c.185G>A (p.Gly62Glu)	IL1RN (G65E +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1144021	NM_173842.3(IL1RN):c.186A>G (p.Gly62=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 797505	NM_173842.3(IL1RN):c.192T>C (p.Asn64=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +1 more	GConflicting classifications of pathogenicity
Select item 998509	NM_173842.3(IL1RN):c.197A>G (p.Asn66Ser)	IL1RN (N32S +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 893644	NM_173842.3(IL1RN):c.205+8G>A	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
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 1294767	NM_173842.3(IL1RN):c.205+21C>T	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1225921	NM_173842.3(IL1RN):c.205+32G>A	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294761	NM_173842.3(IL1RN):c.205+53G>C	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1248659	NM_173842.3(IL1RN):c.205+94T>G	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294769	NM_173842.3(IL1RN):c.205+97A>C	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1277077	NM_173842.3(IL1RN):c.205+135G>A	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268767	NM_173842.3(IL1RN):c.205+158G>A	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259882	NM_173842.3(IL1RN):c.205+217G>T	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 537717	NM_173842.3(IL1RN):c.205+242C>T	IL1RN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 14674	NM_173842.3(IL1RN):c.206-516ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC[2]	IL1RN	Microsatellite (intron variant)	Gastric cancer susceptibility after h. pylori infection +1 more	GPathogenic; risk factor
Select item 1294768	NM_173842.3(IL1RN):c.206-157A>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294763	NM_173842.3(IL1RN):c.206-152C>G	IL1RN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178461	NM_173842.3(IL1RN):c.206-65G>A	IL1RN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294753	NM_173842.3(IL1RN):c.206-43T>C	IL1RN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1942377	NM_173842.3(IL1RN):c.206-16del	IL1RN	Deletion (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GBenign

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