C2748507[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 144

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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)	Autoinflammatory syndrome +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)	Microvascular complications of diabetes, susceptibility to, 4 +2 more	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 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 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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 330823	NM_173842.3(IL1RN):c.69G>A (p.Thr23=)	IL1RN	Single nucleotide variant (synonymous variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis +5 more	GBenign/Likely benign
Select item 1496125	NM_173842.3(IL1RN):c.77G>A (p.Arg26Gln)	IL1RN (R29Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +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 (missense 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)	Sterile multifocal osteomyelitis with periostitis and pustulosis +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)	not provided +1 more	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 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 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)	Sterile multifocal osteomyelitis with periostitis and pustulosis +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)	not provided +1 more	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)	Autoinflammatory syndrome +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 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 537717	NM_173842.3(IL1RN):c.205+242C>T	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +2 more	GBenign
Select item 1942377	NM_173842.3(IL1RN):c.206-16del	IL1RN	Deletion (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GBenign
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 1093185	NM_173842.3(IL1RN):c.206-4C>G	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 1694279	NM_173842.3(IL1RN):c.207A>G (p.Glu69=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +1 more	GConflicting classifications of pathogenicity
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 660820	NM_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del)	IL1RN	Deletion (inframe_deletion)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic
Select item 1015756	NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr)	IL1RN (I37T +3 more)	Single nucleotide variant (missense variant)	Microvascular complications of diabetes, susceptibility to, 4 +2 more	GUncertain significance
Select item 1158793	NM_173842.3(IL1RN):c.219G>A (p.Val73=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GLikely benign
Select item 958251	NM_173842.3(IL1RN):c.220G>A (p.Val74Ile)	IL1RN (V56I +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 14675	NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter)	IL1RN (E77* +3 more)	Single nucleotide variant (nonsense)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GPathogenic
Select item 537715	NM_173842.3(IL1RN):c.237T>C (p.His79=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +2 more	GBenign/Likely benign
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 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 537714	NM_173842.3(IL1RN):c.245T>A (p.Phe82Tyr)	IL1RN (F85Y +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1054720	NM_173842.3(IL1RN):c.249G>A (p.Leu83=)	IL1RN	Single nucleotide variant (synonymous 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 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 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 1006607	NM_173842.3(IL1RN):c.267G>C (p.Lys89Asn)	IL1RN (K55N +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +1 more	GUncertain significance
Select item 581626	NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe)	IL1RN (C94F +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1024532	NM_173842.3(IL1RN):c.298G>A (p.Glu100Lys)	IL1RN (E100K +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1572045	NM_173842.3(IL1RN):c.300G>A (p.Glu100=)	IL1RN	Single nucleotide variant (synonymous variant)	Microvascular complications of diabetes, susceptibility to, 4 +2 more	GLikely benign
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 964446	NM_173842.3(IL1RN):c.305G>C (p.Arg102Thr)	IL1RN (R102T +3 more)	Single nucleotide variant (missense variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +1 more	GUncertain significance
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 1004657	NM_173842.3(IL1RN):c.318+3A>G	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 330826	NM_173842.3(IL1RN):c.318+12C>G	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GConflicting classifications of pathogenicity
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 1164529	NM_173842.3(IL1RN):c.318+19T>G	IL1RN	Single nucleotide variant (intron variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GBenign
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 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 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 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 1039777	NM_173842.3(IL1RN):c.331dup (p.Thr111fs)	IL1RN (T93fs +3 more)	Duplication (frameshift variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GUncertain significance
Select item 1121683	NM_173842.3(IL1RN):c.336C>T (p.Asp112=)	IL1RN	Single nucleotide variant (synonymous variant)	Sterile multifocal osteomyelitis with periostitis and pustulosis +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 470170	NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr)	IL1RN (A127T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2