Full data view for gene NLRC4

In collaboration with the Infevers autoinflammatory disorders (AID) databases.
Information The variants shown are described using the NM_021209.4 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-29590644_*4849134dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26G>A r.(?) p.(Arg9Gln) Unknown - likely benign g.32477724C>T g.32252655C>T NLRC4(NM_021209.4):c.26G>A (p.R9Q) - NLRC4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88del r.(?) p.(Trp30Glyfs*4) Unknown - VUS g.32477662del - NLRC4(NM_021209.4):c.88delT (p.W30Gfs*4) - NLRC4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.122T>C r.(?) p.(Ile41Thr) Unknown - VUS g.32477628A>G - NLRC4(NM_021209.4):c.122T>C (p.I41T) - NLRC4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129C>T r.(?) p.(Cys43=) Unknown - likely benign g.32477621G>A - NLRC4(NM_021209.4):c.129C>T (p.C43=) - NLRC4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.191A>C r.(?) p.(Glu64Ala) Unknown - likely benign g.32477559T>G g.32252490T>G NLRC4(NM_021209.4):c.191A>C (p.E64A) - NLRC4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207T>C r.(?) p.(Phe69=) Unknown - likely benign g.32477543A>G - NLRC4(NM_021209.4):c.207T>C (p.F69=) - NLRC4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208C>T r.(?) p.(Leu70Phe) Unknown - VUS g.32477542G>A - - - NLRC4_000037 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.208C>T r.(?) p.(Leu70Phe) Unknown - VUS g.32477542G>A - - - NLRC4_000037 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.208C>T r.(?) p.(Leu70Phe) Unknown - VUS g.32477542G>A - - - NLRC4_000037 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.252G>A r.(?) p.(Leu84=) Unknown - likely benign g.32477498C>T - NLRC4(NM_021209.4):c.252G>A (p.L84=) - NLRC4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.262+15G>A r.(=) p.(=) Unknown - likely benign g.32477473C>T - NLRC4(NM_021209.4):c.262+15G>A - NLRC4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.262+100A>G r.(=) p.(=) Unknown - benign g.32477388T>C g.32252319T>C NLRC4(NM_021209.4):c.262+100A>G - NLRC4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.263-19A>G r.(=) p.(=) Unknown - likely benign g.32476689T>C - NLRC4(NM_021209.4):c.263-19A>G - NLRC4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411T>G r.(?) p.(Pro137=) Unknown - likely benign g.32476522A>C g.32251453A>C NLRC4(NM_021209.4):c.411T>G (p.P137=) - NLRC4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433C>T r.(?) p.(His145Tyr) Unknown - likely benign g.32476500G>A - NLRC4(NM_021209.4):c.433C>T (p.H145Y) - NLRC4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.478G>A r.(?) p.(Ala160Thr) Unknown - likely benign g.32476455C>T g.32251386C>T NLRC4(NM_021209.4):c.478G>A (p.A160T) - NLRC4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.478G>A r.(?) p.(Ala160Thr) Unknown - likely benign g.32476455C>T g.32251386C>T NLRC4(NM_021209.4):c.478G>A (p.A160T) - NLRC4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.480T>C r.(?) p.(Ala160=) Unknown - likely benign g.32476453A>G - NLRC4(NM_021209.4):c.480T>C (p.A160=) - NLRC4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493T>C r.(?) p.(Cys165Arg) Unknown - VUS g.32476440A>G g.32251371A>G NLRC4(NM_021209.4):c.493T>C (p.(Cys165Arg)) - NLRC4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.515G>A r.(?) p.(Gly172Asp) Unknown - likely pathogenic g.32476418C>T - - - NLRC4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.517A>G r.(?) p.(Lys173Glu) Unknown - VUS g.32476416T>C g.32251347T>C - - NLRC4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.543A>C r.(?) p.(Arg181=) Unknown - benign g.32476390T>G g.32251321T>G NLRC4(NM_021209.4):c.543A>C (p.R181=) - NLRC4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.543A>C r.(?) p.(Arg181=) Unknown - benign g.32476390T>G - NLRC4(NM_021209.4):c.543A>C (p.R181=) - NLRC4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.704T>C r.(?) p.(Met235Thr) Unknown - likely benign g.32476229A>G g.32251160A>G NLRC4(NM_021209.4):c.704T>C (p.M235T) - NLRC4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822G>C r.(?) p.(Met274Ile) Unknown - likely benign g.32476111C>G - NLRC4(NM_021209.4):c.822G>C (p.M274I) - NLRC4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.928C>T r.(?) p.(Arg310*) Unknown - VUS g.32476005G>A - NLRC4(NM_021209.4):c.928C>T (p.R310*) - NLRC4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1083G>A r.(?) p.(Thr361=) Unknown - likely benign g.32475850C>T - NLRC4(NM_021209.4):c.1083G>A (p.T361=) - NLRC4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1224C>T r.(?) p.(Phe408=) Unknown - likely benign g.32475709G>A - NLRC4(NM_021209.4):c.1224C>T (p.F408=) - NLRC4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1248G>A r.(?) p.(Val416=) Unknown - likely benign g.32475685C>T - NLRC4(NM_021209.4):c.1248G>A (p.V416=) - NLRC4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1333T>C r.(?) p.(Ser445Pro) Unknown - pathogenic g.32475600A>G g.32250531A>G - - NLRC4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1357C>T r.(?) p.(Arg453*) Unknown - VUS g.32475576G>A - NLRC4(NM_021209.4):c.1357C>T (p.R453*) - NLRC4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1542A>G r.(?) p.(Gln514=) Unknown - benign g.32475391T>C g.32250322T>C NLRC4(NM_021209.4):c.1542A>G (p.Q514=) - NLRC4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1570G>A r.(?) p.(Ala524Thr) Unknown - likely benign g.32475363C>T g.32250294C>T NLRC4(NM_021209.4):c.1570G>A (p.A524T) - NLRC4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1804T>C r.(?) p.(Leu602=) Unknown - likely benign g.32475129A>G - NLRC4(NM_021209.4):c.1804T>C (p.L602=) - NLRC4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1824C>T r.(?) p.(Ala608=) Unknown - benign g.32475109G>A g.32250040G>A NLRC4(NM_021209.4):c.1824C>T (p.A608=) - NLRC4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1893A>G r.(?) p.(Thr631=) Unknown - likely benign g.32475040T>C g.32249971T>C NLRC4(NM_021209.4):c.1893A>G (p.T631=) - NLRC4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2217A>G r.(?) p.(Lys739=) Unknown - likely benign g.32474716T>C - NLRC4(NM_021209.4):c.2217A>G (p.K739=) - NLRC4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2350+9del r.(=) p.(=) Unknown - likely benign g.32466095del - NLRC4(NM_021209.4):c.2350+9delT - NLRC4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2357G>T r.(?) p.(Gly786Val) Unknown - likely benign g.32463365C>A g.32238296C>A NLRC4(NM_021209.4):c.2357G>T (p.G786V) - NLRC4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2357G>T r.(?) p.(Gly786Val) Unknown - likely benign g.32463365C>A g.32238296C>A NLRC4(NM_021209.4):c.2357G>T (p.G786V) - NLRC4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2380T>C r.(?) p.(Cys794Arg) Unknown - likely benign g.32463342A>G - NLRC4(NM_021209.4):c.2380T>C (p.C794R) - NLRC4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2522-86_2522-85insG r.(=) p.(=) Unknown - benign g.32461493_32461494insC g.32236424_32236425insC NLRC4(NM_021209.4):c.2522-86_2522-85insG - NLRC4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2614+12A>T r.(=) p.(=) Unknown - likely benign g.32461304T>A g.32236235T>A NLRC4(NM_021209.4):c.2614+12A>T - NLRC4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2614+12A>T r.(=) p.(=) Unknown - likely benign g.32461304T>A - NLRC4(NM_021209.4):c.2614+12A>T - NLRC4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2628C>T r.(?) p.(Asn876=) Unknown - likely benign g.32460624G>A g.32235555G>A NLRC4(NM_021209.4):c.2628C>T (p.N876=) - NLRC4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2629G>A r.(?) p.(Val877Met) Unknown - likely benign g.32460623C>T - NLRC4(NM_021209.4):c.2629G>A (p.V877M) - NLRC4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2629G>A r.(?) p.(Val877Met) Unknown - likely benign g.32460623C>T - NLRC4(NM_021209.4):c.2629G>A (p.V877M) - NLRC4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2647G>A r.(?) p.(Ala883Thr) Unknown - likely benign g.32460605C>T - NLRC4(NM_021209.4):c.2647G>A (p.A883T) - NLRC4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2668T>C r.(?) p.(Cys890Arg) Unknown - benign g.32460584A>G g.32235515A>G NLRC4(NM_021209.4):c.2668T>C (p.C890R) - NLRC4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2668T>C r.(?) p.(Cys890Arg) Unknown - likely benign g.32460584A>G - NLRC4(NM_021209.4):c.2668T>C (p.C890R) - NLRC4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2727C>T r.(?) p.(Leu909=) Unknown - likely benign g.32460525G>A - NLRC4(NM_021209.4):c.2727C>T (p.L909=) - NLRC4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2740T>C r.(?) p.(Leu914=) Unknown - benign g.32460512A>G g.32235443A>G NLRC4(NM_021209.4):c.2740T>C (p.L914=) - NLRC4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2740T>C r.(?) p.(Leu914=) Unknown - likely benign g.32460512A>G g.32235443A>G NLRC4(NM_021209.4):c.2740T>C (p.L914=) - NLRC4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2782+77C>T r.(=) p.(=) Unknown - benign g.32460393G>A g.32235324G>A NLRC4(NM_021209.4):c.2782+77C>T - NLRC4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2782+122T>C r.(=) p.(=) Unknown - benign g.32460348A>G g.32235279A>G NLRC4(NM_021209.4):c.2782+122T>C - NLRC4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2783-46del r.(=) p.(=) Unknown - benign g.32449888del g.32224819del NLRC4(NM_021209.4):c.2783-46delT - NLRC4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2783-41_2783-38del r.(=) p.(=) Unknown - likely benign g.32449876_32449879del g.32224807_32224810del NLRC4(NM_021209.4):c.2783-41_2783-38delAAAA - NLRC4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2785G>T r.(?) p.(Ala929Ser) Unknown - benign g.32449832C>A g.32224763C>A NLRC4(NM_021209.4):c.2785G>T (p.A929S) - NLRC4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2785G>T r.(?) p.(Ala929Ser) Parent #1 - benign g.32449832C>A g.32224763C>A - - NLRC4_000001 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61754192 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.2828A>T r.(?) p.(Asn943Ile) Unknown - VUS g.32449789T>A g.32224720T>A NLRC4(NM_021209.4):c.2828A>T (p.N943I) - NLRC4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2834C>T r.(?) p.(Ala945Val) Unknown - VUS g.32449783G>A g.32224714G>A NLRC4(NM_021209.4):c.2834C>T (p.A945V) - NLRC4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2834C>T r.(?) p.(Ala945Val) Unknown - VUS g.32449783G>A - - - NLRC4_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.2883T>C r.(?) p.(Phe961=) Unknown - likely benign g.32449734A>G - NLRC4(NM_021209.4):c.2883T>C (p.F961=) - NLRC4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2945C>G r.(?) p.(Ala982Gly) Unknown - likely benign g.32449672G>C - NLRC4(NM_021209.4):c.2945C>G (p.A982G) - NLRC4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2992C>A r.(?) p.(Gln998Lys) Unknown - VUS g.32449625G>T - - - NLRC4_000036 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.3052G>A r.(?) p.(Ala1018Thr) Unknown - VUS g.32449565C>T - NLRC4(NM_021209.4):c.3052G>A (p.A1018T) - NLRC4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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