Unique variants in the NLRP3 gene

Information The variants shown are described using the NM_004895.4 transcript reference sequence.

241 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-555T>C r.(?) p.(=) - likely benign g.247581542T>C g.247418240T>C - - NLRP3_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.-555T>G r.(=) p.(=) - benign g.247581542T>G g.247418240T>G - - NLRP3_000234 247 heterozygous; Clinindb (India), 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72771992 Germline - 247/2793 individuals, 9/2793 individuals - - - Mohammed Faruq
-/. 1 - c.-34G>T r.(?) p.(=) - benign g.247582063G>T g.247418761G>T NLRP3(NM_001243133.1):c.-40G>T - NLRP3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.152A>G r.(?) p.(His51Arg) - VUS g.247582248A>G g.247418946A>G NLRP3(NM_001243133.1):c.146A>G (p.H49R) - NLRP3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 3 - c.213C>T r.(?) p.(Ala71=) - benign, likely benign g.247582309C>T g.247419007C>T NLRP3(NM_001079821.2):c.213C>T (p.(=)), NLRP3(NM_001243133.1):c.207C>T (p.A69=) - NLRP3_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/., ?/. 2 - c.214G>A r.(?) p.(Val72Met) - likely benign, VUS g.247582310G>A g.247419008G>A NLRP3(NM_001243133.1):c.208G>A (p.V70M), NLRP3(NM_004895.4):c.214G>A (p.V72M) - NLRP3_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.230C>T r.(?) p.(Ala77Val) - likely benign g.247582326C>T g.247419024C>T NLRP3(NM_001243133.1):c.224C>T (p.A75V) - NLRP3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.231G>T r.(?) p.(Ala77=) - likely benign g.247582327G>T g.247419025G>T NLRP3(NM_001243133.1):c.225G>T (p.A75=) - NLRP3_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.273G>A r.(?) p.(Glu91=) - likely benign g.247582369G>A g.247419067G>A NLRP3(NM_001243133.1):c.267G>A (p.E89=) - NLRP3_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.283+85_283+87del r.(=) p.(=) - benign g.247582464_247582466del g.247419162_247419164del NLRP3(NM_001243133.1):c.277+85_277+87delATA - NLRP3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.284-196T>C r.(=) p.(=) - likely benign g.247586336T>C g.247423034T>C NLRP3(NM_001243133.1):c.278-196T>C - NLRP3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.284-45T>C r.(=) p.(=) - benign g.247586487T>C g.247423185T>C NLRP3(NM_001243133.1):c.278-45T>C - NLRP3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.315T>C r.(?) p.(Thr105=) - likely benign g.247586563T>C - NLRP3(NM_001243133.1):c.309T>C (p.T103=) - NLRP3_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.363G>A r.(?) p.(Leu121=) - likely benign g.247586611G>A g.247423309G>A NLRP3(NM_001243133.1):c.357G>A (p.L119=) - NLRP3_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.403+7G>A r.(=) p.(=) - benign, likely benign g.247586658G>A g.247423356G>A NLRP3(NM_001079821.2):c.403+7G>A (p.(=)), NLRP3(NM_001243133.1):c.397+7G>A - NLRP3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.404-229T>G r.(=) p.(=) - benign g.247586920T>G g.247423618T>G NLRP3(NM_001243133.1):c.398-229T>G - NLRP3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/? 2 3i c.404-56C>T r.(=) p.(=) - likely benign, VUS g.247587093C>T g.247423791C>T NLRP3(NM_001243133.1):c.398-56C>T - NLRP3_000009 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
-?/. 1 - c.404-15C>T r.(=) p.(=) - likely benign g.247587134C>T g.247423832C>T NLRP3(NM_001243133.1):c.398-15C>T - NLRP3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.409C>G r.(?) p.(Arg137Gly) - likely benign g.247587154C>G - NLRP3(NM_001079821.2):c.409C>G (p.(Arg137Gly)) - NLRP3_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.409C>T r.(?) p.(Arg137Cys) - likely benign g.247587154C>T g.247423852C>T NLRP3(NM_001243133.1):c.403C>T (p.R135C) - NLRP3_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, ?/. 2 4 c.410G>A r.(?) p.(Arg137His) - pathogenic, VUS g.247587155G>A g.247423853G>A NLRP3(NM_001243133.1):c.404G>A (p.R135H) - NLRP3_000011 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Lainka 2010 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
-/., -?/. 2 - c.429C>T r.(?) p.(Tyr143=) - benign, likely benign g.247587174C>T g.247423872C>T NLRP3(NM_001243133.1):c.423C>T (p.Y141=) - NLRP3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+, ?/. 2 4 c.449G>A r.(?) p.(Cys150Tyr) - pathogenic, VUS g.247587194G>A g.247423892G>A NLRP3(NM_001243133.1):c.443G>A (p.C148Y) - NLRP3_000013 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Jesus 2008 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
-?/. 2 - c.456A>G r.(?) p.(Glu152=) - likely benign g.247587201A>G g.247423899A>G NLRP3(NM_001243133.1):c.450A>G (p.E150=) - NLRP3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.487A>G r.(?) p.(Ser163Gly) - likely benign g.247587232A>G - NLRP3(NM_001243133.1):c.481A>G (p.S161G) - NLRP3_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, ?/. 2 4 c.509G>A r.(?) p.(Arg170Gln) - pathogenic, VUS g.247587254G>A g.247423952G>A NLRP3(NM_001243133.1):c.503G>A (p.R168Q) - NLRP3_000181 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Cuisset 2011 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+?/. 1 - c.514C>A r.(?) p.(Arg172Ser) - likely pathogenic g.247587259C>A g.247423957C>A NLRP3(NM_001243133.1):c.508C>A (p.R170S) - NLRP3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.514C>T r.(?) p.(Arg172Cys) - VUS g.247587259C>T g.247423957C>T NLRP3(NM_001243133.1):c.508C>T (p.R170C) - NLRP3_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 4 c.515G>A r.(?) p.(Arg172His) - likely pathogenic g.247587260G>A g.247423958G>A - - NLRP3_000223 - MORL Deafness Variation Database, PubMed: Karatsourakis 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +?/. 2 4 c.521T>C r.(?) p.(Ile174Thr) - likely pathogenic, pathogenic g.247587266T>C g.247423964T>C NLRP3(NM_001243133.1):c.515T>C (p.I172T) - NLRP3_000016 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Stojanov 2004 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, ?/. 2 4 c.523A>G r.(?) p.(Lys175Glu) - pathogenic, VUS g.247587268A>G g.247423966A>G NLRP3(NM_001243133.1):c.517A>G (p.K173E) - NLRP3_000017 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Jesus 2012 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
-?/. 1 - c.570C>T r.(?) p.(Ile190=) - likely benign g.247587315C>T g.247424013C>T NLRP3(NM_001243133.1):c.564C>T (p.I188=) - NLRP3_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.584C>T r.(?) p.(Thr195Met) - VUS g.247587329C>T g.247424027C>T NLRP3(NM_001243133.1):c.578C>T (p.T193M) - NLRP3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., ?/? 2 4 c.593G>A r.(?) p.(Ser198Asn) - benign, VUS g.247587338G>A g.247424036G>A NLRP3(NM_001243133.1):c.587G>A (p.S196N) - NLRP3_000019 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Saito 2005 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
-/., -?/., ?/. 4 - c.598G>A r.(?) p.(Val200Met) - benign, likely benign, VUS g.247587343G>A g.247424041G>A NLRP3(NM_001243133.1):c.592G>A (p.V198M) - NLRP3_000184 conflicting interpretations of pathogenicity; 28 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs121908147 CLASSIFICATION record, Germline - 28/2795 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, Mohammed Faruq
?/. 1 - c.637G>A r.(?) p.(Asp213Asn) - VUS g.247587382G>A g.247424080G>A NLRP3(NM_001243133.1):c.631G>A (p.D211N) - NLRP3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 2 - c.644A>G r.(?) p.(His215Arg) - likely benign, VUS g.247587389A>G g.247424087A>G NLRP3(NM_001243133.1):c.638A>G (p.H213R) - NLRP3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 2 - c.663C>T r.(?) p.(Thr221=) - benign g.247587408C>T g.247424106C>T NLRP3(NM_001243133.1):c.657C>T (p.T219=) - NLRP3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/+, ?/. 2 4 c.680C>T r.(?) p.(Ala227Val) - pathogenic, VUS g.247587425C>T g.247424123C>T NLRP3(NM_001243133.1):c.674C>T (p.A225V) - NLRP3_000023 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
?/. 1 - c.687G>T r.(?) p.(Gly229=) - VUS g.247587432G>T g.247424130G>T NLRP3(NM_001243133.1):c.681G>T (p.G227=) - NLRP3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.699A>T r.(?) p.(Thr233=) - likely benign g.247587444A>T g.247424142A>T NLRP3(NM_001243133.1):c.693A>T (p.T231=) - NLRP3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/? 2 4 c.705G>A r.(=), r.(?) p.(=), p.(Leu235=) - likely benign, VUS g.247587450G>A g.247424148G>A NLRP3(NM_001243133.1):c.699G>A (p.L233=) - NLRP3_000026 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
-/. 3 - c.732G>A r.(?) p.(Ala244=) - benign g.247587477G>A g.247424175G>A NLRP3(NM_001243133.1):c.726G>A (p.A242=), NLRP3(NM_004895.4):c.732G>A (p.A244=) - NLRP3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/+, +/. 2 4 c.783T>G r.(?) p.(Cys261Trp) - pathogenic g.247587528T>G g.247424226T>G NLRP3(NM_001243133.1):c.777T>G (p.C259W) - NLRP3_000028 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Aksentijevich 2007 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.784C>T r.(?) p.(Arg262*), p.(Arg262Trp) - pathogenic g.247587529C>T g.247424227C>T NLRP3(NM_001243133.1):c.778C>T (p.R260W) - NLRP3_000029 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Dodé 2002 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/., ?/? 2 4 c.785G>C r.(?) p.(Arg262Pro) - pathogenic, VUS g.247587530G>C g.247424228G>C NLRP3(NM_001243133.1):c.779G>C (p.R260P) - NLRP3_000030 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Neven 2004 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/., ?/? 2 4 c.785G>T r.(?) p.(Arg262Leu) - pathogenic, VUS g.247587530G>T g.247424228G>T NLRP3(NM_001243133.1):c.779G>T (p.R260L) - NLRP3_000031 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Neven 2004 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
-/. 2 - c.786= r.(=) p.(Arg262=) - benign g.247587531A>G - NLRP3(NM_001243133.1):c.780A>G (p.R260=), NLRP3(NM_004895.4):c.786A>G (p.R262=) - NLRP3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+/+, +/. 2 4 c.791T>C r.(?) p.(Val264Ala) - pathogenic g.247587536T>C g.247424234T>C NLRP3(NM_001243133.1):c.785T>C (p.V262A) - NLRP3_000033 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Aksentijevich 2007 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+ 1 4 c.791T>G r.(?) p.(Val264Gly) - pathogenic g.247587536T>G g.247424234T>G - - NLRP3_000224 - MORL Deafness Variation Database, PubMed: Maksimovic 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +?/. 2 4 c.796C>G r.(?) p.(Leu266Val) - likely pathogenic, pathogenic g.247587541C>G g.247424239C>G NLRP3(NM_001243133.1):c.790C>G (p.L264V) - NLRP3_000034 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.796C>T r.(?) p.(Leu266Phe) - pathogenic g.247587541C>T g.247424239C>T NLRP3(NM_001243133.1):c.790C>T (p.L264F) - NLRP3_000035 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.797T>A r.(?) p.(Leu266His) - pathogenic g.247587542T>A g.247424240T>A NLRP3(NM_001243133.1):c.791T>A (p.L264H) - NLRP3_000036 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Aksentijevich 2002 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +?/. 2 4 c.797T>G r.(?) p.(Leu266Arg) - likely pathogenic, pathogenic g.247587542T>G g.247424240T>G NLRP3(NM_001243133.1):c.791T>G (p.L264R) - NLRP3_000037 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Jéru 2006 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
?/. 1 - c.802A>C r.(?) p.(Thr268Pro) - VUS g.247587547A>C g.247424245A>C NLRP3(NM_001243133.1):c.796A>C (p.T266P) - NLRP3_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.844G>A r.(?) p.(Asp282Asn) - VUS g.247587589G>A g.247424287G>A NLRP3(NM_001243133.1):c.838G>A (p.D280N) - NLRP3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 2 - c.844G>C r.(?) p.(Asp282His) - likely benign, VUS g.247587589G>C g.247424287G>C NLRP3(NM_001079821.2):c.844G>C (p.(Asp282His)), NLRP3(NM_001243133.1):c.838G>C (p.D280H) - NLRP3_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.845A>C r.(?) p.(Asp282Ala) - likely benign g.247587590A>C g.247424288A>C NLRP3(NM_001079821.2):c.845A>C (p.(Asp282Ala)) - NLRP3_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.870C>G r.(?) p.(Ile290Met) - likely benign g.247587615C>G g.247424313C>G NLRP3(NM_001243133.1):c.864C>G (p.I288M) - NLRP3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, ?/. 2 4 c.901A>G r.(?) p.(Met301Val) - pathogenic, VUS g.247587646A>G g.247424344A>G NLRP3(NM_001243133.1):c.895A>G (p.M299V) - NLRP3_000040 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Verma 2010 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
-?/. 1 - c.906C>T r.(?) p.(Asp302=) - likely benign g.247587651C>T g.247424349C>T NLRP3(NM_001243133.1):c.900C>T (p.D300=) - NLRP3_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.907G>A r.(?) p.(Gly303Ser) - VUS g.247587652G>A g.247424350G>A NLRP3(NM_001243133.1):c.901G>A (p.G301S) - NLRP3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, ?/. 2 4 c.908G>A r.(?) p.(Gly303Asp) - pathogenic, VUS g.247587653G>A g.247424351G>A NLRP3(NM_001243133.1):c.902G>A (p.G301D) - NLRP3_000042 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Jéru 2006 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+ 1 4 c.912C>A r.(?) p.(Phe304Leu) - pathogenic g.247587657C>A g.247424355C>A - - NLRP3_000225 - MORL Deafness Variation Database, PubMed: Izawa 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +/. 2 4 c.913G>A r.(?) p.(Asp305Asn) - pathogenic g.247587658G>A g.247424356G>A NLRP3(NM_001243133.1):c.907G>A (p.D303N) - NLRP3_000043 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +?/. 2 4 c.913G>C r.(?) p.(Asp305His) - likely pathogenic, pathogenic g.247587658G>C g.247424356G>C NLRP3(NM_001243133.1):c.907G>C (p.D303H) - NLRP3_000044 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Koike 2007, PubMed: Tanaka 2011, PubMed: Tanaka 2011 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/. 1 - c.914A>C r.(?) p.(Asp305Ala) - pathogenic g.247587659A>C g.247424357A>C NLRP3(NM_001243133.1):c.908A>C (p.D303A) - NLRP3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, +/. 2 4 c.914A>G r.(?) p.(Asp305Gly) - pathogenic g.247587659A>G g.247424357A>G NLRP3(NM_001243133.1):c.908A>G (p.D303G) - NLRP3_000046 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Neven 2004 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.916G>A r.(?) p.(Glu306Lys) - pathogenic g.247587661G>A g.247424359G>A NLRP3(NM_001243133.1):c.910G>A (p.E304K) - NLRP3_000047 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Caroli 2007 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.920T>C r.(?) p.(Leu307Pro) - pathogenic g.247587665T>C g.247424363T>C NLRP3(NM_001243133.1):c.914T>C (p.L305P) - NLRP3_000048 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Aganna 2002 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.922C>A r.(?) p.(Gln308Lys) - pathogenic g.247587667C>A g.247424365C>A NLRP3(NM_001243133.1):c.916C>A (p.Q306K) - NLRP3_000049 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Feldmann 2002 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+?/., ?/? 2 4 c.922C>G r.(?) p.(Gln308Glu) - likely pathogenic, VUS g.247587667C>G g.247424365C>G NLRP3(NM_001243133.1):c.916C>G (p.Q306E) - NLRP3_000050 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.925G>A r.(?) p.(Gly309Ser) - pathogenic g.247587670G>A g.247424368G>A NLRP3(NM_001243133.1):c.919G>A (p.G307S) - NLRP3_000051 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+?/+?, +?/. 2 4 c.926G>T r.(?) p.(Gly309Val) - likely pathogenic g.247587671G>T g.247424369G>T NLRP3(NM_001243133.1):c.920G>T (p.G307V) - NLRP3_000052 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Matsubara 2006, PubMed: Tanaka 2011, PubMed: Tanaka 2011 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+?/. 1 - c.932T>A r.(?) p.(Phe311Tyr) - likely pathogenic g.247587677T>A g.247424375T>A NLRP3(NM_001243133.1):c.926T>A (p.F309Y) - NLRP3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, +/. 2 4 c.932T>C r.(?) p.(Phe311Ser) - pathogenic g.247587677T>C g.247424375T>C NLRP3(NM_001243133.1):c.926T>C (p.F309S) - NLRP3_000054 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Feldmann 2002 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
-?/., ?/? 3 4 c.936C>T r.(=), r.(?) p.(=), p.(Asp312=) - likely benign, VUS g.247587681C>T g.247424379C>T NLRP3(NM_001243133.1):c.930C>T (p.D310=) - NLRP3_000055 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Hoffman 2003 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+, +/. 2 4 c.937G>A r.(?) p.(Glu313Lys) - pathogenic g.247587682G>A g.247424380G>A NLRP3(NM_001243133.1):c.931G>A (p.E311K) - NLRP3_000056 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Mirault 2006 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +?/. 2 4 c.941A>C r.(?) p.(His314Pro) - likely pathogenic, pathogenic g.247587686A>C g.247424384A>C NLRP3(NM_001243133.1):c.935A>C (p.H312P) - NLRP3_000057 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Koike 2007 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, ?/. 3 4 c.943A>G r.(?) p.(Ile315Val) - pathogenic, VUS g.247587688A>G g.247424386A>G NLRP3(NM_001243133.1):c.937A>G (p.I313V), NLRP3(NM_004895.4):c.943A>G (p.I315V) - NLRP3_000058 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Cuisset 2011 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Groningen, VKGL-NL_Utrecht
+/+, -?/., ?/. 3 4 c.950C>T r.(?) p.(Pro317Leu) - likely benign, pathogenic, VUS g.247587695C>T g.247424393C>T NLRP3(NM_001079821.2):c.950C>T (p.(Pro317Leu)), NLRP3(NM_001243133.1):c.944C>T (p.P315L) - NLRP3_000059 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.953T>C r.(?) p.(Leu318Pro) - VUS g.247587698T>C - NLRP3(NM_001243133.1):c.947T>C (p.L316P) - NLRP3_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/? 2 4 c.979C>T r.(?) p.(Arg327Trp) - likely pathogenic, VUS g.247587724C>T g.247424422C>T NLRP3(NM_001243133.1):c.973C>T (p.R325W) - NLRP3_000060 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
?/. 1 - c.980G>A r.(?) p.(Arg327Gln) - VUS g.247587725G>A g.247424423G>A NLRP3(NM_001243133.1):c.974G>A (p.R325Q) - NLRP3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, +/. 2 4 c.983G>A r.(?) p.(Gly328Glu) - pathogenic g.247587728G>A g.247424426G>A NLRP3(NM_001243133.1):c.977G>A (p.G326E) - NLRP3_000062 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Kilcline 2005 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.999C>A r.(?) p.(Ser333Arg) - pathogenic g.247587744C>A g.247424442C>A NLRP3(NM_001243133.1):c.993C>A (p.S331R) - NLRP3_000063 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Jéru 2006 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
?/? 1 4 c.1000A>G r.(?) p.(Ser334Gly) - VUS g.247587745A>G g.247424443A>G - - NLRP3_000226 - MORL Deafness Variation Database - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.1001G>A r.(?) p.(Ser334Asn) - VUS g.247587746G>A g.247424444G>A NLRP3(NM_001243133.1):c.995G>A (p.S332N) - NLRP3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, ?/. 2 4 c.1006A>G r.(?) p.(Ile336Val) - pathogenic, VUS g.247587751A>G g.247424449A>G NLRP3(NM_001243133.1):c.1000A>G (p.I334V) - NLRP3_000065 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Cuisset 2011 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
-/., -?/. 2 - c.1026C>T r.(?) p.(Pro342=) - benign, likely benign g.247587771C>T g.247424469C>T NLRP3(NM_001243133.1):c.1020C>T (p.P340=) - NLRP3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 2 - c.1038G>A r.(?) p.(Leu346=) - benign, likely benign g.247587783G>A g.247424481G>A NLRP3(NM_001243133.1):c.1032G>A (p.L344=) - NLRP3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+, +/. 3 4 c.1049C>T r.(?) p.(Thr350Met) - pathogenic g.247587794C>T g.247424492C>T NLRP3(NM_001243133.1):c.1043C>T (p.T348M) - NLRP3_000068 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Dodé 2002 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/., -?/. 2 - c.1050G>A r.(?) p.(Thr350=) - benign, likely benign g.247587795G>A g.247424493G>A NLRP3(NM_001079821.2):c.1050G>A (p.(=)), NLRP3(NM_001243133.1):c.1044G>A (p.T348=) - NLRP3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.1055C>T r.(?) p.(Pro352Leu) - VUS g.247587800C>T g.247424498C>T NLRP3(NM_001243133.1):c.1049C>T (p.P350L) - NLRP3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, ?/. 2 4 c.1057G>A r.(?) p.(Val353Met) - pathogenic, VUS g.247587802G>A g.247424500G>A NLRP3(NM_001243133.1):c.1051G>A (p.V351M) - NLRP3_000071 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, ?/. 2 4 c.1057G>C r.(?) p.(Val353Leu) - pathogenic, VUS g.247587802G>C g.247424500G>C NLRP3(NM_001243133.1):c.1051G>C (p.V351L) - NLRP3_000072 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Aksentijevich 2007 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/., ?/? 2 4 c.1060G>A r.(?) p.(Ala354Thr) - pathogenic, VUS g.247587805G>A g.247424503G>A NLRP3(NM_001243133.1):c.1054G>A (p.A352T) - NLRP3_000073 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.1061C>T r.(?) p.(Ala354Val) - pathogenic g.247587806C>T g.247424504C>T NLRP3(NM_001243133.1):c.1055C>T (p.A352V) - NLRP3_000074 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Hoffman 2001 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.1064T>C r.(?) p.(Leu355Pro) - pathogenic g.247587809T>C g.247424507T>C NLRP3(NM_001243133.1):c.1058T>C (p.L353P) - NLRP3_000075 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Hoffman 2003 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
+/+, +/. 2 4 c.1068G>T r.(?) p.(Glu356Asp) - pathogenic g.247587813G>T g.247424511G>T NLRP3(NM_001243133.1):c.1062G>T (p.E354D) - NLRP3_000076 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Neven 2004 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Utrecht
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