"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NOD2"[gene - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 531610	NM_001370466.1(NOD2):c.-8-2238G>C	NOD2 (E3Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 546773	NM_001370466.1(NOD2):c.-8-2185C>T	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 97880	NM_001370466.1(NOD2):c.-8-7T>A	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease 1 +5 more	GConflicting classifications of pathogenicity
Select item 531615	NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu)	NOD2 (P125L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GLikely benign
Select item 1694796	NM_001370466.1(NOD2):c.331C>T (p.Arg111Trp)	NOD2 (R111W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 808038	NM_001370466.1(NOD2):c.347G>A (p.Arg116Lys)	NOD2 (R116K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 319426	NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn)	NOD2 (D154N +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +5 more	GConflicting classifications of pathogenicity
Select item 733554	NM_001370466.1(NOD2):c.402C>T (p.Phe134=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 858593	NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp)	NOD2 (E139D +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance
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 788178	NM_001370466.1(NOD2):c.486G>A (p.Thr162=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	NOD2-related condition +4 more	GBenign/Likely benign
Select item 1298664	NM_001370466.1(NOD2):c.516T>C (p.Leu172=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 808039	NM_001370466.1(NOD2):c.539C>G (p.Pro180Arg)	NOD2 (P180R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 493181	NM_001370466.1(NOD2):c.550G>T (p.Ala184Ser)	NOD2 (A211S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 2646509	NM_001370466.1(NOD2):c.677C>A (p.Thr226Lys)	NOD2 (T226K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 319436	NM_001370466.1(NOD2):c.726G>A (p.Pro242=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 462701	NM_001370466.1(NOD2):c.735C>T (p.Ser245=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +3 more	GBenign
Select item 319440	NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser)	NOD2 (N289S +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +5 more	GConflicting classifications of pathogenicity
Select item 872460	NM_001370466.1(NOD2):c.815G>A (p.Gly272Asp)	NOD2 (G272D +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 97885	NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)	NOD2 (R311W +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +4 more	GConflicting classifications of pathogenicity
Select item 2646510	NM_001370466.1(NOD2):c.870T>A (p.Ala290=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4696	NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp)	NOD2 (R334W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 4694	NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln)	NOD2 (R334Q +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GPathogenic
Select item 1701288	NM_001370466.1(NOD2):c.955C>T (p.Arg319Trp)	NOD2 (R319W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1013099	NM_001370466.1(NOD2):c.1020C>G (p.Leu340=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 97902	NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)	NOD2 (R373C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 566850	NM_001370466.1(NOD2):c.1097G>A (p.Arg366His)	NOD2 (R393H +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GLikely benign
Select item 2646511	NM_001370466.1(NOD2):c.1182G>C (p.Lys394Asn)	NOD2 (K394N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 97825	NM_001370466.1(NOD2):c.1200G>A (p.Pro400=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 97826	NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu)	NOD2 (S431L +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +5 more	GConflicting classifications of pathogenicity
Select item 651644	NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val)	NOD2 (A432V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 319444	NM_001370466.1(NOD2):c.1235G>A (p.Arg412His)	NOD2 (R439H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 97827	NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys)	NOD2 (E441K +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 786292	NM_001370466.1(NOD2):c.1245C>T (p.Phe415=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1529045	NM_001370466.1(NOD2):c.1275C>T (p.Ile425=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +3 more	GLikely benign
Select item 97833	NM_001370466.1(NOD2):c.1428G>A (p.Glu476=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +3 more	GConflicting classifications of pathogenicity
Select item 646734	NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala)	NOD2 (T484A +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 1675623	NM_001370466.1(NOD2):c.1490A>C (p.His497Pro)	NOD2 (H497P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2067285	NM_001370466.1(NOD2):c.1501C>G (p.Pro501Ala)	NOD2 (P528A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 97838	NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys)	NOD2 (R587C +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GPathogenic/Likely pathogenic
Select item 791750	NM_001370466.1(NOD2):c.1693G>A (p.Val565Met)	NOD2 (V592M +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 97839	NM_001370466.1(NOD2):c.1707G>A (p.Thr569=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 319451	NM_001370466.1(NOD2):c.1752C>T (p.Ala584=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 4700	NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)	NOD2 (A612T +1 more)	Single nucleotide variant (missense variant +1 more)	Yao syndrome +5 more	GConflicting classifications of pathogenicity
Select item 531613	NM_001370466.1(NOD2):c.1755G>A (p.Ala585=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 103118	NM_001370466.1(NOD2):c.1923G>A (p.Pro641=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +3 more	GLikely benign
Select item 197333	NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)	NOD2 (R703C +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +5 more	GConflicting classifications of pathogenicity
Select item 97843	NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys)	NOD2 (R713C +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 97844	NM_001370466.1(NOD2):c.2057G>A (p.Arg686His)	NOD2 (R713H +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +4 more	GBenign/Likely benign
Select item 319461	NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly)	NOD2 (A725G +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +5 more	GBenign/Likely benign
Select item 2646512	NM_001370466.1(NOD2):c.2136C>T (p.Phe712=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 808040	NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp)	NOD2 (R753W +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GUncertain significance
Select item 319462	NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)	NOD2 (A755V +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +7 more	GConflicting classifications of pathogenicity
Select item 97850	NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)	NOD2 (R791Q +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +4 more	GConflicting classifications of pathogenicity
Select item 97851	NM_001370466.1(NOD2):c.2296G>A (p.Val766Met)	NOD2 (V793M +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +5 more	GBenign/Likely benign
Select item 97852	NM_001370466.1(NOD2):c.2325G>T (p.Val775=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +4 more	GBenign/Likely benign
Select item 1701289	NM_001370466.1(NOD2):c.2382-1011C>T	NOD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 734538	NM_001370466.1(NOD2):c.2389G>A (p.Asp797Asn)	NOD2 (D824N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 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 728268	NM_001370466.1(NOD2):c.2490C>T (p.Asp830=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +2 more	GBenign/Likely benign
Select item 97858	NM_001370466.1(NOD2):c.2506A>G (p.Met836Val)	NOD2 (M863V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +5 more	GBenign/Likely benign
Select item 319471	NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys)	NOD2 (Q902K +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 808041	NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys)	NOD2 (G908C +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GConflicting classifications of pathogenicity
Select item 4692	NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)	NOD2 (G908R +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +7 more	GConflicting classifications of pathogenicity; association
Select item 4697	NM_001370466.1(NOD2):c.2717+158C>T	NOD2	Single nucleotide variant (intron variant)	Yao syndrome +4 more	GConflicting classifications of pathogenicity
Select item 852157	NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu)	NOD2 (K926E +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1349073	NM_001370466.1(NOD2):c.2828A>G (p.Glu943Gly)	NOD2 (E943G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
Select item 1163983	NM_001370466.1(NOD2):c.3011T>A (p.Leu1004His)	CYLD-AS1, NOD2 (L1004H +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 319476	NM_001370466.1(NOD2):c.*89C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 319484	NM_001370466.1(NOD2):c.*462C>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 319488	NM_001370466.1(NOD2):c.*873C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +2 more	GConflicting classifications of pathogenicity

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Items: 71