IL12RB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 152348	GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	AK4, C1orf141 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 2970373	NM_001374259.2(IL12RB2):c.4G>A (p.Ala2Thr)	IL12RB2 (A2T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 750364	NM_001374259.2(IL12RB2):c.6A>G (p.Ala2=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1528091	NM_001374259.2(IL12RB2):c.9T>C (p.His3=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1549708	NM_001374259.2(IL12RB2):c.10A>G (p.Thr4Ala)	IL12RB2 (T4A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1519876	NM_001374259.2(IL12RB2):c.15T>A (p.Phe5Leu)	IL12RB2 (F5L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2751431	NM_001374259.2(IL12RB2):c.21A>T (p.Gly7=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1349152	NM_001374259.2(IL12RB2):c.23G>A (p.Cys8Tyr)	IL12RB2 (C8Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1536080	NM_001374259.2(IL12RB2):c.25T>C (p.Ser9Pro)	IL12RB2 (S9P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1475293	NM_001374259.2(IL12RB2):c.34T>C (p.Phe12Leu)	IL12RB2 (F12L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 775560	NM_001374259.2(IL12RB2):c.37A>G (p.Met13Val)	IL12RB2 (M13V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2006650	NM_001374259.2(IL12RB2):c.39G>A (p.Met13Ile)	IL12RB2 (M13I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011858	NM_001374259.2(IL12RB2):c.50C>A (p.Thr17Lys)	IL12RB2 (T17K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1384829	NM_001374259.2(IL12RB2):c.50C>T (p.Thr17Met)	IL12RB2 (T17M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1529228	NM_001374259.2(IL12RB2):c.51G>A (p.Thr17=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1988758	NM_001374259.2(IL12RB2):c.52T>G (p.Trp18Gly)	IL12RB2 (W18G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1632308	NM_001374259.2(IL12RB2):c.60G>A (p.Leu20=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1719389	NM_001374259.2(IL12RB2):c.75A>G (p.Ile25Met)	IL12RB2 (I25M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2731557	NM_001374259.2(IL12RB2):c.76+1G>T	IL12RB2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1974676	NM_001374259.2(IL12RB2):c.76+2T>G	IL12RB2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1629165	NM_001374259.2(IL12RB2):c.76+12C>T	IL12RB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633141	NM_001374259.2(IL12RB2):c.77-20G>T	IL12RB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802493	NM_001374259.2(IL12RB2):c.77-12A>G	IL12RB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169445	NM_001374259.2(IL12RB2):c.78T>C (p.Asp26=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1918323	NM_001374259.2(IL12RB2):c.80C>T (p.Ala27Val)	IL12RB2 (A27V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953691	NM_001374259.2(IL12RB2):c.81G>A (p.Ala27=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 715704	NM_001374259.2(IL12RB2):c.93C>T (p.Gly31=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2187685	NM_001374259.2(IL12RB2):c.94G>A (p.Asp32Asn)	IL12RB2 (D32N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2051442	NM_001374259.2(IL12RB2):c.94G>C (p.Asp32His)	IL12RB2 (D32H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2189727	NM_001374259.2(IL12RB2):c.98dup (p.Thr34fs)	IL12RB2 (T34fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2103298	NM_001374259.2(IL12RB2):c.97G>A (p.Val33Met)	IL12RB2 (V33M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 786851	NM_001374259.2(IL12RB2):c.114C>G (p.Ser38=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1501563	NM_001374259.2(IL12RB2):c.116A>G (p.His39Arg)	IL12RB2 (H39R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1417513	NM_001374259.2(IL12RB2):c.118G>A (p.Val40Ile)	IL12RB2 (V40I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1394587	NM_001374259.2(IL12RB2):c.121A>G (p.Ile41Val)	IL12RB2 (I41V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2161270	NM_001374259.2(IL12RB2):c.130G>T (p.Gly44Ter)	IL12RB2 (G44*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1433173	NM_001374259.2(IL12RB2):c.145A>G (p.Ile49Val)	IL12RB2 (I49V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1983391	NM_001374259.2(IL12RB2):c.150_153dup (p.Ser52fs)	IL12RB2 (S52fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1428909	NM_001374259.2(IL12RB2):c.157_158del (p.Leu53fs)	IL12RB2 (L53fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1938802	NM_001374259.2(IL12RB2):c.184_213del (p.Tyr62_Tyr71del)	IL12RB2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3014967	NM_001374259.2(IL12RB2):c.185A>G (p.Tyr62Cys)	IL12RB2 (Y62C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1433400	NM_001374259.2(IL12RB2):c.188C>T (p.Ser63Phe)	IL12RB2 (S63F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2060438	NM_001374259.2(IL12RB2):c.193C>T (p.Arg65Cys)	IL12RB2 (R65C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975994	NM_001374259.2(IL12RB2):c.194G>A (p.Arg65His)	IL12RB2 (R65H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1440967	NM_001374259.2(IL12RB2):c.197A>G (p.Asn66Ser)	IL12RB2 (N66S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2727856	NM_001374259.2(IL12RB2):c.198C>G (p.Asn66Lys)	IL12RB2 (N66K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1563966	NM_001374259.2(IL12RB2):c.208C>T (p.Leu70=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1354262	NM_001374259.2(IL12RB2):c.210G>C (p.Leu70=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1348845	NM_001374259.2(IL12RB2):c.212A>G (p.Tyr71Cys)	IL12RB2 (Y71C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2192953	NM_001374259.2(IL12RB2):c.213C>T (p.Tyr71=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1720123	NM_001374259.2(IL12RB2):c.218T>G (p.Phe73Cys)	IL12RB2 (F73C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049488	NM_001374259.2(IL12RB2):c.220G>T (p.Asp74Tyr)	IL12RB2 (D74Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1493730	NM_001374259.2(IL12RB2):c.226A>G (p.Arg76Gly)	IL12RB2 (R76G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1958973	NM_001374259.2(IL12RB2):c.233A>G (p.Asn78Ser)	IL12RB2 (N78S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2852135	NM_001374259.2(IL12RB2):c.247C>T (p.His83Tyr)	IL12RB2 (H83Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2860525	NM_001374259.2(IL12RB2):c.253C>T (p.Leu85Phe)	IL12RB2 (L85F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993676	NM_001374259.2(IL12RB2):c.258T>C (p.Asn86=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1361230	NM_001374259.2(IL12RB2):c.269C>T (p.Thr90Ile)	IL12RB2 (T90I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1974090	NM_001374259.2(IL12RB2):c.290C>A (p.Thr97Asn)	IL12RB2 (T97N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903762	NM_001374259.2(IL12RB2):c.291C>T (p.Thr97=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1595640	NM_001374259.2(IL12RB2):c.292T>C (p.Leu98=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2775939	NM_001374259.2(IL12RB2):c.314G>A (p.Cys105Tyr)	IL12RB2 (C105Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008439	NM_001374259.2(IL12RB2):c.314G>C (p.Cys105Ser)	IL12RB2 (C105S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2781316	NM_001374259.2(IL12RB2):c.330A>G (p.Glu110=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1367676	NM_001374259.2(IL12RB2):c.338T>C (p.Ile113Thr)	IL12RB2 (I113T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2527056	NM_001374259.2(IL12RB2):c.340T>G (p.Cys114Gly)	IL12RB2 (C114G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2084860	NM_001374259.2(IL12RB2):c.346G>A (p.Ala116Thr)	IL12RB2 (A116T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932120	NM_001374259.2(IL12RB2):c.354C>A (p.Ile118=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2629902	NM_001374259.2(IL12RB2):c.358G>T (p.Val120Phe)	IL12RB2 (V120F)	Single nucleotide variant (missense variant +1 more)	IL12RB2-related disorder	GUncertain significance
Select item 1417162	NM_001374259.2(IL12RB2):c.358G>A (p.Val120Ile)	IL12RB2 (V120I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1953907	NM_001374259.2(IL12RB2):c.364+5G>A	IL12RB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1447067	NM_001374259.2(IL12RB2):c.364+6C>G	IL12RB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3048822	NM_001374259.2(IL12RB2):c.364+8T>C	IL12RB2	Single nucleotide variant (intron variant)	IL12RB2-related disorder	GLikely benign
Select item 2857113	NM_001374259.2(IL12RB2):c.364+17G>A	IL12RB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926306	NM_001374259.2(IL12RB2):c.365-14T>C	IL12RB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1349475	NM_001374259.2(IL12RB2):c.368C>T (p.Ala123Val)	IL12RB2 (A123V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1952989	NM_001374259.2(IL12RB2):c.371C>T (p.Pro124Leu)	IL12RB2 (P124L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1363613	NM_001374259.2(IL12RB2):c.373G>C (p.Glu125Gln)	IL12RB2 (E125Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1422650	NM_001374259.2(IL12RB2):c.386A>G (p.Asn129Ser)	IL12RB2 (N129S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1398347	NM_001374259.2(IL12RB2):c.386A>T (p.Asn129Ile)	IL12RB2 (N129I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2716574	NM_001374259.2(IL12RB2):c.389T>C (p.Leu130Ser)	IL12RB2 (L130S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1468941	NM_001374259.2(IL12RB2):c.391T>G (p.Ser131Ala)	IL12RB2 (S131A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1382915	NM_001374259.2(IL12RB2):c.398T>C (p.Ile133Thr)	IL12RB2 (I133T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2822255	NM_001374259.2(IL12RB2):c.402G>A (p.Gln134=)	IL12RB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992569	NM_001374259.2(IL12RB2):c.412C>T (p.Gln138Ter)	IL12RB2 (Q138*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2815692	NM_001374259.2(IL12RB2):c.414G>C (p.Gln138His)	IL12RB2 (Q138H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1442801	NM_001374259.2(IL12RB2):c.418A>T (p.Thr140Ser)	IL12RB2 (T140S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3109076	NM_001374259.2(IL12RB2):c.424G>C (p.Ala142Pro)	IL12RB2 (A142P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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