"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 319429	NM_001370466.1(NOD2):c.453C>G (p.Ser151=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +4 more	GBenign
Select item 319431	NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)	NOD2 (T189M +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 319440	NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser)	NOD2 (N289S +1 more)	Single nucleotide variant (missense variant +1 more)	NOD2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 97902	NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)	NOD2 (R373C +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1043683	NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val)	NOD2 (D363V +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 319443	NM_001370466.1(NOD2):c.1188G>T (p.Val396=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	NOD2-related disorder +4 more	GBenign/Likely benign
Select item 319450	NM_001370466.1(NOD2):c.1680T>G (p.Arg560=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +4 more	GBenign
Select item 319451	NM_001370466.1(NOD2):c.1752C>T (p.Ala584=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +4 more	GBenign/Likely benign
Select item 319459	NM_001370466.1(NOD2):c.2042G>A (p.Arg681His)	NOD2 (R708H +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GBenign/Likely benign
Select item 650404	NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)	NOD2 (P723L +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +5 more	GConflicting classifications of pathogenicity
Select item 97852	NM_001370466.1(NOD2):c.2325G>T (p.Val775=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +4 more	GBenign/Likely benign
Select item 97856	NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)	NOD2 (N852S +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +4 more	GConflicting classifications of pathogenicity; association
Select item 97858	NM_001370466.1(NOD2):c.2506A>G (p.Met836Val)	NOD2 (M863V +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +5 more	GBenign/Likely benign
Select item 97866	NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)	NOD2 (A918D +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +5 more	GConflicting classifications of pathogenicity
Select item 97869	NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)	NOD2 (V955I +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +6 more	GBenign/Likely benign
Select item 4691	NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	CYLD-AS1, NOD2 (L980fs +1 more)	Duplication	Autoinflammatory syndrome +6 more	GConflicting classifications of pathogenicity; association