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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOD2
Single nucleotide variant
(synonymous variant +1 more)
Inflammatory bowel disease 1
+4 more
GBenign
NOD2
(T189M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inflammatory bowel disease 1
+4 more
GConflicting classifications of pathogenicity
NOD2
(P268S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GBenign
NOD2
(N289S +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+5 more
GConflicting classifications of pathogenicity
NOD2
(R373C +1 more)
Single nucleotide variant
(missense variant +1 more)
Regional enteritis
+3 more
GConflicting classifications of pathogenicity
NOD2
(D363V +1 more)
Single nucleotide variant
(missense variant +1 more)
Regional enteritis
+2 more
GConflicting classifications of pathogenicity
NOD2
Single nucleotide variant
(synonymous variant +1 more)
Blau syndrome
+4 more
GBenign/Likely benign
NOD2
Single nucleotide variant
(synonymous variant +1 more)
Blau syndrome
+4 more
GBenign
NOD2
Single nucleotide variant
(synonymous variant +1 more)
Blau syndrome
+4 more
GBenign
NOD2
Single nucleotide variant
(synonymous variant +1 more)
Inflammatory bowel disease 1
+4 more
GBenign/Likely benign
NOD2
(R708H +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+2 more
GBenign/Likely benign
NOD2
Single nucleotide variant
(synonymous variant +1 more)
Autoinflammatory syndrome
+4 more
GBenign/Likely benign
NOD2
(N852S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity; association
NOD2
(M863V +1 more)
Single nucleotide variant
(missense variant +1 more)
Regional enteritis
+5 more
GBenign/Likely benign
NOD2
(V955I +1 more)
Single nucleotide variant
(missense variant +1 more)
Regional enteritis
+6 more
GBenign/Likely benign
CYLD-AS1, NOD2
(L980fs +1 more)
Duplication
Autoinflammatory syndrome
+6 more
GConflicting classifications of pathogenicity; association
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