Full data view for gene NOD2

Information The variants shown are described using the NM_022162.1 transcript reference sequence.

196 entries on 2 pages. Showing entries 1 - 100.
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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.-58T>C r.(?) p.(=) Unknown - likely benign g.50731097T>C g.50697186T>C NOD2(NM_022162.1):c.-58T>C - NOD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely benign g.50731156T>C - NOD2(NM_022162.1):c.2T>C (p.M1?) - NOD2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7G>C r.(?) p.(Glu3Gln) Unknown - likely benign g.50731161G>C - NOD2(NM_022162.1):c.7G>C (p.E3Q) - NOD2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71C>T r.(?) p.(Pro24Leu) Unknown - likely benign g.50731225C>T - NOD2(NM_022162.1):c.71C>T (p.P24L) - NOD2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.74-29T>G r.(=) p.(=) Unknown - benign g.50733370T>G g.50699459T>G NOD2(NM_022162.1):c.74-29T>G - NOD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74-7T>A r.(=) p.(=) Unknown - likely benign g.50733392T>A g.50699481T>A NOD2(NM_022162.1):c.74-7T>A - NOD2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74-7T>A r.(=) p.(=) Unknown - VUS g.50733392T>A - NOD2(NM_022162.1):c.74-7T>A - NOD2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140C>T r.(?) p.(Ser47Leu) Unknown - likely benign g.50733465C>T g.50699554C>T NOD2(NM_022162.1):c.140C>T (p.S47L) - NOD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Ser47Leu) Unknown - VUS g.50733465C>T g.50699554C>T NOD2(NM_022162.1):c.140C>T (p.S47L) - NOD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140C>T r.(?) p.(Ser47Leu) Unknown - likely benign g.50733465C>T g.50699554C>T NOD2(NM_022162.1):c.140C>T (p.S47L) - NOD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214G>A r.(?) p.(Glu72Lys) Unknown - VUS g.50733539G>A g.50699628G>A NOD2(NM_022162.1):c.214G>A (p.E72K) - NOD2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.270C>T r.(?) p.(Asp90=) Unknown - likely benign g.50733595C>T - NOD2(NM_022162.1):c.270C>T (p.D90=) - NOD2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289A>G r.(?) p.(Thr97Ala) Unknown - likely benign g.50733614A>G - NOD2(NM_022162.1):c.289A>G (p.T97A) - NOD2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.315G>A r.(?) p.(Ala105=) Unknown - likely benign g.50733640G>A g.50699729G>A NOD2(NM_022162.1):c.315G>A (p.A105=) - NOD2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321C>G r.(?) p.(Ala107=) Unknown - likely benign g.50733646C>G - NOD2(NM_022162.1):c.321C>G (p.A107=) - NOD2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.374C>T r.(?) p.(Pro125Leu) Unknown - likely benign g.50733699C>T g.50699788C>T NOD2(NM_022162.1):c.374C>T (p.P125L) - NOD2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.404A>G r.(?) p.(Gln135Arg) Unknown - VUS g.50733729A>G - NOD2(NM_022162.3):c.404A>G (p.Q135R) - NOD2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.413G>A r.(?) p.(Arg138Gln) Parent #1 - VUS g.50733738G>A g.50699827G>A - - NOD2_000082 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104895456 Germline - 2/2784 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-/. - c.418G>A r.(?) p.(Ala140Thr) Unknown - benign g.50733743G>A g.50699832G>A NOD2(NM_022162.1):c.418G>A (p.A140T) - NOD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458T>G r.(?) p.(Leu153Arg) Unknown - VUS g.50733783T>G g.50699872T>G NOD2(NM_022162.1):c.458T>G (p.L153R) - NOD2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484G>A r.(?) p.(Val162Ile) Unknown - likely benign g.50733809G>A g.50699898G>A NOD2(NM_022162.1):c.484G>A (p.V162I) - NOD2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.534C>G r.(?) p.(Ser178=) Unknown - benign g.50733859C>G g.50699948C>G NOD2(NM_022162.1):c.534C>G (p.S178=) - NOD2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.534C>G r.(?) p.(Ser178=) Unknown - benign g.50733859C>G g.50699948C>G NOD2(NM_022162.1):c.534C>G (p.S178=) - NOD2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.541-3T>C r.spl? p.? Unknown - benign g.50741763T>C g.50707852T>C NOD2(NM_022162.1):c.541-3T>C - NOD2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566C>T r.(?) p.(Thr189Met) Unknown - likely benign g.50741791C>T g.50707880C>T NOD2(NM_022162.1):c.566C>T (p.T189M), NOD2(NM_022162.3):c.566C>T (p.T189M) - NOD2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566C>T r.(?) p.(Thr189Met) Unknown - likely benign g.50741791C>T g.50707880C>T NOD2(NM_022162.1):c.566C>T (p.T189M), NOD2(NM_022162.3):c.566C>T (p.T189M) - NOD2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566C>T r.(?) p.(Thr189Met) Unknown - likely benign g.50741791C>T g.50707880C>T NOD2(NM_022162.1):c.566C>T (p.T189M), NOD2(NM_022162.3):c.566C>T (p.T189M) - NOD2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567G>A r.(?) p.(Thr189=) Unknown - likely benign g.50741792G>A g.50707881G>A NOD2(NM_022162.1):c.567G>A (p.T189=) - NOD2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567G>A r.(?) p.(Thr189=) Unknown - likely benign g.50741792G>A - NOD2(NM_022162.1):c.567G>A (p.T189=) - NOD2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580G>C r.(?) p.(Gly194Arg) Unknown - likely benign g.50741805G>C - NOD2(NM_022162.1):c.580G>C (p.(Gly194Arg)) - NOD2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.619C>G r.(?) p.(Pro207Ala) Unknown - VUS g.50741844C>G - NOD2(NM_022162.3):c.619C>G (p.P207A) - NOD2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.633C>T r.(?) p.(Ala211=) Unknown - benign g.50741858C>T g.50707947C>T NOD2(NM_022162.1):c.633C>T (p.A211=) - NOD2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.646+1G>A r.spl? p.? Unknown - VUS g.50741872G>A - NOD2(NM_001370466.1):c.565+1G>A - NOD2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.743T>G r.(?) p.(Leu248Arg) Unknown - likely pathogenic g.50744565T>G g.50710654T>G NM_022162.2(NOD2):c.743T>G p.(Leu248Arg) - NOD2_000005 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-755A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
?/. - c.743T>G r.(?) p.(Leu248Arg) Unknown - VUS g.50744565T>G g.50710654T>G NOD2(NM_022162.1):c.743T>G (p.L248R) - NOD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.746A>G r.(?) p.(Glu249Gly) Unknown - VUS g.50744568A>G g.50710657A>G NOD2(NM_022162.1):c.746A>G (p.E249G), NOD2(NM_022162.3):c.746A>G (p.E249G) - NOD2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.746A>G r.(?) p.(Glu249Gly) Unknown - VUS g.50744568A>G - NOD2(NM_022162.1):c.746A>G (p.E249G), NOD2(NM_022162.3):c.746A>G (p.E249G) - NOD2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.746A>G r.(?) p.(Glu249Gly) Unknown - VUS g.50744568A>G - NOD2(NM_022162.1):c.746A>G (p.E249G), NOD2(NM_022162.3):c.746A>G (p.E249G) - NOD2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.772G>C r.(?) p.(Glu258Gln) Unknown - VUS g.50744594G>C - NOD2(NM_022162.1):c.772G>C (p.E258Q) - NOD2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.802C>T r.(?) p.(Pro268Ser) Unknown - benign g.50744624C>T g.50710713C>T NOD2(NM_022162.1):c.802C>T (p.P268S), NOD2(NM_022162.3):c.802C>T (p.P268S) - NOD2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.802C>T r.(?) p.(Pro268Ser) Unknown - benign g.50744624C>T g.50710713C>T NOD2(NM_022162.1):c.802C>T (p.P268S), NOD2(NM_022162.3):c.802C>T (p.P268S) - NOD2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.816C>T r.(?) p.(Ser272=) Unknown - likely benign g.50744638C>T - NOD2(NM_022162.1):c.816C>T (p.S272=) - NOD2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.859C>T r.(?) p.(His287Tyr) Unknown - VUS g.50744681C>T - NOD2(NM_022162.1):c.859C>T (p.H287Y) - NOD2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.866A>G r.(?) p.(Asn289Ser) Unknown - likely benign g.50744688A>G g.50710777A>G NOD2(NM_022162.1):c.866A>G (p.N289S) - NOD2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.866A>G r.(?) p.(Asn289Ser) Unknown - benign g.50744688A>G g.50710777A>G NOD2(NM_022162.1):c.866A>G (p.N289S) - NOD2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.881C>G r.(?) p.(Thr294Ser) Parent #1 - likely benign g.50744703C>G g.50710792C>G - - NOD2_000083 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104895425 Germline - 3/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.881C>G r.(?) p.(Thr294Ser) Unknown - likely benign g.50744703C>G - NOD2(NM_022162.1):c.881C>G (p.T294S) - NOD2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930G>A r.(?) p.(Gln310=) Unknown - likely benign g.50744752G>A g.50710841G>A NOD2(NM_022162.1):c.930G>A (p.Q310=) - NOD2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931C>T r.(?) p.(Arg311Trp) Unknown - VUS g.50744753C>T g.50710842C>T NOD2(NM_022162.1):c.931C>T (p.R311W), NOD2(NM_022162.3):c.931C>T (p.R311W) - NOD2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.931C>T r.(?) p.(Arg311Trp) Unknown - likely benign g.50744753C>T g.50710842C>T NOD2(NM_022162.1):c.931C>T (p.R311W), NOD2(NM_022162.3):c.931C>T (p.R311W) - NOD2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931C>T r.(?) p.(Arg311Trp) Parent #1 - VUS g.50744753C>T g.50710842C>T - - NOD2_000053 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104895427 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.931C>T r.(?) p.(Arg311Trp) Unknown - VUS g.50744753C>T - NOD2(NM_022162.1):c.931C>T (p.R311W), NOD2(NM_022162.3):c.931C>T (p.R311W) - NOD2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932G>A r.(?) p.(Arg311Gln) Unknown - likely benign g.50744754G>A - NOD2(NM_022162.1):c.932G>A (p.R311Q) - NOD2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1000C>T r.(?) p.(Arg334Trp) Unknown - pathogenic g.50744822C>T g.50710911C>T NOD2(NM_022162.1):c.1000C>T (p.R334W) - NOD2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1000C>T r.(?) p.(Arg334Trp) Unknown - pathogenic (dominant) g.50744822C>T g.50710911C>T - - NOD2_000020 - PubMed: Cordova-Fletes 2020 - rs104895462 De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Cordova-Fletes 2020 - M - Mexico - - - - - 1 Johan den Dunnen
+/. - c.1001G>A r.(?) p.(Arg334Gln) Unknown - pathogenic g.50744823G>A g.50710912G>A NOD2(NM_022162.1):c.1001G>A (p.R334Q) - NOD2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1001G>A r.(?) p.(Arg334Gln) Unknown - pathogenic g.50744823G>A - NOD2(NM_022162.1):c.1001G>A (p.R334Q) - NOD2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1022A>C r.(?) p.(Lys341Thr) Unknown - VUS g.50744844A>C g.50710933A>C NOD2(NM_022162.1):c.1022A>C (p.K341T) - NOD2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1036C>T r.(?) p.(Arg346Trp) Unknown - VUS g.50744858C>T - NOD2(NM_022162.1):c.1036C>T (p.R346W) - NOD2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1055A>G r.(?) p.(His352Arg) Unknown - benign g.50744877A>G g.50710966A>G NOD2(NM_022162.1):c.1055A>G (p.H352R) - NOD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1070A>C r.(?) p.(Asp357Ala) Unknown - likely benign g.50744892A>C - NOD2(NM_022162.3):c.1070A>C (p.D357A) - NOD2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1087A>T r.(?) p.(Ile363Phe) Unknown - VUS g.50744909A>T g.50710998A>T NOD2(NM_022162.1):c.1087A>T (p.I363F) - NOD2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1102C>T r.(?) p.(Leu368Phe) Unknown - VUS g.50744924C>T - NOD2(NM_022162.1):c.1102C>T (p.L368F) - NOD2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - VUS g.50744939C>T g.50711028C>T NOD2(NM_022162.1):c.1117C>T (p.R373C) - NOD2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - VUS g.50744939C>T - NOD2(NM_022162.1):c.1117C>T (p.R373C) - NOD2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c. 1118G>A r.(?) p.(Arg373His) Unknown - VUS g.50744940G>A g.50711029G>A NOD2 c. 1118G>A (p.R373H) - NOD2_000111 heterozygous PubMed: Zhang 2019 - - De novo ? - - - - DNA SEQ-NG-I, SEQ blood capture panel of the genes related to congenital cataract and retinal diseases retinal disease ? PubMed: Zhang 2019 - M - - - - - - standard phacoemulsification both eyes; compound neomycin sulfate eye drops, gatifloxacin eye drops, and diclofenac sodium eye drops 4 times per day; brinzolamide eye drops 3 times a day, when the patient showed high intraocular pressure 1 LOVD
+/. - c.1147G>C r.(?) p.(Glu383Gln) Unknown - pathogenic g.50744969G>C - - - NOD2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1148A>G r.(?) p.(Glu383Gly) Unknown - pathogenic g.50744970A>G - - - NOD2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1169A>T r.(?) p.(Asp390Val) Unknown - VUS g.50744991A>T g.50711080A>T NOD2(NM_022162.1):c.1169A>T (p.D390V), NOD2(NM_022162.3):c.1169A>T (p.D390V) - NOD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1169A>T r.(?) p.(Asp390Val) Unknown - VUS g.50744991A>T - NOD2(NM_022162.1):c.1169A>T (p.D390V), NOD2(NM_022162.3):c.1169A>T (p.D390V) - NOD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1169A>T r.(?) p.(Asp390Val) Unknown - VUS g.50744991A>T - NOD2(NM_022162.1):c.1169A>T (p.D390V), NOD2(NM_022162.3):c.1169A>T (p.D390V) - NOD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1194C>T r.(?) p.(Thr398=) Unknown - likely benign g.50745016C>T - NOD2(NM_022162.1):c.1194C>T (p.T398=) - NOD2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1195G>A r.(?) p.(Asp399Asn) Unknown - VUS g.50745017G>A g.50711106G>A NOD2(NM_022162.1):c.1195G>A (p.D399N) - NOD2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1269G>T r.(?) p.(Val423=) Unknown - likely benign g.50745091G>T g.50711180G>T NOD2(NM_022162.1):c.1269G>T (p.V423=) - NOD2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1269G>T r.(?) p.(Val423=) Unknown - likely benign g.50745091G>T g.50711180G>T NOD2(NM_022162.1):c.1269G>T (p.V423=) - NOD2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1281G>C r.(?) p.(Pro427=) Unknown - likely benign g.50745103G>C g.50711192G>C NOD2(NM_022162.1):c.1281G>C (p.P427=) - NOD2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1292C>T r.(?) p.(Ser431Leu) Unknown - VUS g.50745114C>T g.50711203C>T NOD2(NM_022162.1):c.1292C>T (p.S431L), NOD2(NM_022162.3):c.1292C>T (p.S431L) - NOD2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1292C>T r.(?) p.(Ser431Leu) Parent #1 - likely benign g.50745114C>T g.50711203C>T - - NOD2_000058 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104895431 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1292C>T r.(?) p.(Ser431Leu) Unknown - likely benign g.50745114C>T - NOD2(NM_022162.1):c.1292C>T (p.S431L), NOD2(NM_022162.3):c.1292C>T (p.S431L) - NOD2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1292C>T r.(?) p.(Ser431Leu) Unknown - likely benign g.50745114C>T - NOD2(NM_022162.1):c.1292C>T (p.S431L), NOD2(NM_022162.3):c.1292C>T (p.S431L) - NOD2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1295C>T r.(?) p.(Ala432Val) Unknown - VUS g.50745117C>T g.50711206C>T NOD2(NM_022162.1):c.1295C>T (p.A432V), NOD2(NM_022162.3):c.1295C>T (p.A432V) - NOD2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1295C>T r.(?) p.(Ala432Val) Unknown - VUS g.50745117C>T - NOD2(NM_022162.1):c.1295C>T (p.A432V), NOD2(NM_022162.3):c.1295C>T (p.A432V) - NOD2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1321G>A r.(?) p.(Glu441Lys) Unknown - VUS g.50745143G>A g.50711232G>A NOD2(NM_022162.1):c.1321G>A (p.E441K), NOD2(NM_022162.3):c.1321G>A (p.E441K) - NOD2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1321G>A r.(?) p.(Glu441Lys) Unknown - VUS g.50745143G>A - NOD2(NM_022162.1):c.1321G>A (p.E441K), NOD2(NM_022162.3):c.1321G>A (p.E441K) - NOD2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1377C>T r.(?) p.(Arg459=) Unknown - benign g.50745199C>T g.50711288C>T NOD2(NM_022162.1):c.1377C>T (p.R459=), NOD2(NM_022162.3):c.1377C>T (p.R459=) - NOD2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1377C>T r.(?) p.(Arg459=) Unknown - benign g.50745199C>T g.50711288C>T NOD2(NM_022162.1):c.1377C>T (p.R459=), NOD2(NM_022162.3):c.1377C>T (p.R459=) - NOD2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411C>T r.(?) p.(Arg471Cys) Unknown - likely benign g.50745233C>T g.50711322C>T NOD2(NM_022162.1):c.1411C>T (p.R471C) - NOD2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411C>T r.(?) p.(Arg471Cys) Unknown - likely benign g.50745233C>T g.50711322C>T - - NOD2_000060 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.030 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1453C>T r.(?) p.(Leu485=) Unknown - benign g.50745275C>T g.50711364C>T NOD2(NM_022162.1):c.1453C>T (p.L485=) - NOD2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1496T>A r.(?) p.(Leu499Gln) Unknown - pathogenic g.50745318T>A g.50711407T>A NOD2(NM_022162.1):c.1496T>A (p.L499Q) - NOD2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1502T>C r.(?) p.(Leu501Pro) Unknown - VUS g.50745324T>C g.50711413T>C NOD2(NM_022162.1):c.1502T>C (p.L501P) - NOD2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1515del r.(?) p.(Ser506Profs*11) Unknown - VUS g.50745337del - NOD2(NM_001370466.1):c.1434del (p.(Ser479Profs*11)) - NOD2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1531A>G r.(?) p.(Thr511Ala) Unknown - VUS g.50745353A>G - NOD2(NM_022162.3):c.1531A>G (p.T511A) - NOD2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1538T>C r.(?) p.(Met513Thr) Unknown - pathogenic g.50745360T>C g.50711449T>C NOD2(NM_022162.1):c.1538T>C (p.M513T) - NOD2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1538T>C r.(?) p.(Met513Thr) Unknown - pathogenic (dominant) g.50745360T>C g.50711449T>C - - NOD2_000028 - PubMed: Cordova-Fletes 2020 - rs104895473 De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Cordova-Fletes 2020 - F - Mexico - - - - - 1 Johan den Dunnen
-?/. - c.1644G>A r.(?) p.(Leu548=) Unknown - likely benign g.50745466G>A - NOD2(NM_022162.1):c.1644G>A (p.L548=) - NOD2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1752C>T r.(?) p.(=) Unknown - likely benign g.50745574C>T - NOD2(NM_022162.1):c.1752C>T (p.F584=) - NOD2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1761T>G r.(?) p.(Arg587=) Unknown - benign g.50745583T>G g.50711672T>G NOD2(NM_022162.1):c.1761T>G (p.R587=) - NOD2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1761T>G r.(?) p.(Arg587=) Unknown - benign g.50745583T>G g.50711672T>G NOD2(NM_022162.1):c.1761T>G (p.R587=) - NOD2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1773C>T r.(?) p.(Val591=) Unknown - likely benign g.50745595C>T - NOD2(NM_022162.1):c.1773C>T (p.V591=) - NOD2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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