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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOD2
Single nucleotide variant
(synonymous variant +1 more)
Blau syndrome
+4 more
GConflicting classifications of pathogenicity
NOD2
(R346H +1 more)
Single nucleotide variant
(missense variant +1 more)
Yao syndrome
+3 more
GUncertain significance
NOD2
(R615G +1 more)
Single nucleotide variant
(missense variant +1 more)
Regional enteritis
+3 more
GUncertain significance
NOD2
(V706M +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+4 more
GUncertain significance
NOD2
(D363N +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+4 more
GUncertain significance
NOD2
(I104T +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+5 more
GUncertain significance
NOD2
(G250D +1 more)
Single nucleotide variant
(missense variant +1 more)
Yao syndrome
GUncertain significance
NOD2
(T569M +1 more)
Single nucleotide variant
(missense variant +1 more)
Yao syndrome
+3 more
GUncertain significance
NOD2
(R657Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+6 more
GConflicting classifications of pathogenicity
NOD2
Single nucleotide variant
(synonymous variant +1 more)
Regional enteritis
+3 more
GLikely benign
NOD2
(P537H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inflammatory bowel disease 1
+2 more
GUncertain significance
NOD2
(Q35* +1 more)
Single nucleotide variant
(nonsense +1 more)
Regional enteritis
+2 more
GUncertain significance
NOD2
Single nucleotide variant
(synonymous variant +1 more)
Blau syndrome
+4 more
GConflicting classifications of pathogenicity
NOD2
(A755V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
NOD2
(A725G +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+5 more
GBenign/Likely benign
NOD2
(R311W +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+4 more
GConflicting classifications of pathogenicity
NOD2
(V955I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inflammatory bowel disease 1
+6 more
GBenign/Likely benign
NOD2
(P727L +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+3 more
GConflicting classifications of pathogenicity
NOD2
(N414S +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+4 more
GUncertain significance
NOD2
(A612T +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+5 more
GConflicting classifications of pathogenicity
NOD2
Single nucleotide variant
(intron variant)
Autoinflammatory syndrome
+4 more
GConflicting classifications of pathogenicity
NOD2
(R702W +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+6 more
GConflicting classifications of pathogenicity; association
NOD2
(G908R +1 more)
Single nucleotide variant
(missense variant +1 more)
Blau syndrome
+7 more
GConflicting classifications of pathogenicity; association
CYLD-AS1, NOD2
(L980fs +1 more)
Duplication
Autoinflammatory syndrome
+6 more
GConflicting classifications of pathogenicity; association
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