"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 546773	NM_001370466.1(NOD2):c.-8-2185C>T	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 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)	Blau syndrome +5 more	GConflicting classifications of pathogenicity
Select item 2920862	NM_001370466.1(NOD2):c.-8-2A>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 531611	NM_001370466.1(NOD2):c.45C>T (p.Val15=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +2 more	GLikely benign
Select item 319424	NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu)	NOD2 (S47L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 660017	NM_001370466.1(NOD2):c.193G>T (p.Val65Phe)	NOD2 (V92F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 319425	NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)	NOD2 (V92I +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +5 more	GConflicting classifications of pathogenicity
Select item 791749	NM_001370466.1(NOD2):c.258C>T (p.Asp86=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1099258	NM_001370466.1(NOD2):c.309A>G (p.Pro103=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 995705	NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter)	NOD2 (R105* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 462700	NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr)	NOD2 (A140T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +5 more	GBenign/Likely benign
Select item 319426	NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn)	NOD2 (D154N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +4 more	GConflicting classifications of pathogenicity
Select item 2920887	NM_001370466.1(NOD2):c.380A>C (p.Asp127Ala)	NOD2 (D127A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 319427	NM_001370466.1(NOD2):c.403G>A (p.Val135Ile)	NOD2 (V162I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 319429	NM_001370466.1(NOD2):c.453C>G (p.Ser151=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 319430	NM_001370466.1(NOD2):c.460-3T>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +4 more	GBenign/Likely benign
Select item 319431	NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)	NOD2 (T189M +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 319432	NM_001370466.1(NOD2):c.552C>T (p.Ala184=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +5 more	GConflicting classifications of pathogenicity
Select item 432100	NM_001370466.1(NOD2):c.565+1G>A	NOD2	Single nucleotide variant (splice donor variant)	Regional enteritis +3 more	GConflicting classifications of pathogenicity
Select item 849868	NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter)	NOD2 (Q233* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +3 more	GUncertain significance
Select item 97881	NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg)	NOD2 (L248R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 531608	NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly)	NOD2 (E249G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
Select item 319435	NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser)	NOD2 (P268S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign
Select item 462701	NM_001370466.1(NOD2):c.735C>T (p.Ser245=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GBenign
Select item 319438	NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)	NOD2 (L281F +1 more)	Single nucleotide variant (missense variant +1 more)	Blau 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)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 811984	NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser)	NOD2 (P303S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2921258	NM_001370466.1(NOD2):c.920G>T (p.Arg307Leu)	NOD2 (R334L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 462694	NM_001370466.1(NOD2):c.974A>G (p.His325Arg)	NOD2 (H352R +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GBenign/Likely benign
Select item 97819	NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala)	NOD2 (D357A +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 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 531599	NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu)	NOD2 (P397L +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +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)	Inflammatory bowel disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 319445	NM_001370466.1(NOD2):c.1296C>T (p.Arg432=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 319446	NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys)	NOD2 (R471C +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GBenign/Likely benign
Select item 462696	NM_001370466.1(NOD2):c.1372C>T (p.Leu458=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +3 more	GBenign/Likely benign
Select item 97833	NM_001370466.1(NOD2):c.1428G>A (p.Glu476=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 811950	NM_001370466.1(NOD2):c.1434G>A (p.Gly478=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 449632	NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His)	NOD2 (Y514H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 319447	NM_001370466.1(NOD2):c.1522C>T (p.Leu508=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +3 more	GConflicting classifications of pathogenicity
Select item 811661	NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp)	NOD2 (R514W +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 319448	NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu)	NOD2 (P545L +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GConflicting classifications of pathogenicity
Select item 759339	NM_001370466.1(NOD2):c.1563G>A (p.Leu521=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +2 more	GLikely benign
Select item 319449	NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 319450	NM_001370466.1(NOD2):c.1680T>G (p.Arg560=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 791750	NM_001370466.1(NOD2):c.1693G>A (p.Val565Met)	NOD2 (V592M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Blau syndrome +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)	Blau syndrome +4 more	GBenign/Likely benign
Select item 859056	NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs)	NOD2 (N610fs +1 more)	Deletion (frameshift variant +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 319456	NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu)	NOD2 (P668L +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +4 more	GConflicting classifications of pathogenicity
Select item 863734	NM_001370466.1(NOD2):c.1923del (p.His642fs)	NOD2 (H669fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GUncertain significance
Select item 319457	NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe)	NOD2 (L682F +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 779017	NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)	NOD2 (R657Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 4693	NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)	NOD2 (R702W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity; association
Select item 197333	NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)	NOD2 (R703C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 97844	NM_001370466.1(NOD2):c.2057G>A (p.Arg686His)	NOD2 (R713H +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +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)	Blau syndrome +5 more	GBenign/Likely benign
Select item 1022100	NM_001370466.1(NOD2):c.2150G>A (p.Arg717Gln)	NOD2 (R717Q +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 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)	Blau syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1330980	NM_001370466.1(NOD2):c.2287C>T (p.Arg763Trp)	NOD2 (R763W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 462699	NM_001370466.1(NOD2):c.2288G>A (p.Arg763Gln)	NOD2 (R790Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 97850	NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)	NOD2 (R791Q +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +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)	Blau syndrome +4 more	GBenign/Likely benign
Select item 1101089	NM_001370466.1(NOD2):c.2304G>C (p.Leu768=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 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 319465	NM_001370466.1(NOD2):c.2381+10A>C	NOD2	Single nucleotide variant (intron variant)	Blau syndrome +4 more	GBenign/Likely benign
Select item 319466	NM_001370466.1(NOD2):c.2382-9T>A	NOD2	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 97854	NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys)	NOD2 (E843K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 97855	NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val)	NOD2 (A849V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 418716	NM_001370466.1(NOD2):c.2465+2dup	NOD2	Duplication (splice donor variant)	Regional enteritis +2 more	GUncertain significance
Select item 97856	NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)	NOD2 (N852S +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +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)	not provided +2 more	GBenign/Likely benign
Select item 1165110	NM_001370466.1(NOD2):c.2550-16_2550-15del	NOD2	Microsatellite (intron variant)	Blau syndrome +2 more	GBenign/Likely benign
Select item 2428623	NM_001370466.1(NOD2):c.2567T>C (p.Ile856Thr)	NOD2 (I856T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 808041	NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys)	NOD2 (G908C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	not specified +7 more	GConflicting classifications of pathogenicity; association
Select item 97865	NM_001370466.1(NOD2):c.2658C>T (p.Asp886=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 97866	NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)	NOD2 (A918D +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 994371	NM_001370466.1(NOD2):c.2702G>A (p.Ser901Asn)	NOD2 (S901N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 97869	NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)	NOD2 (V955I +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +6 more	GBenign/Likely benign
Select item 994348	NM_001370466.1(NOD2):c.2831G>A (p.Gly944Asp)	NOD2 (G944D +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 993640	NM_001370466.1(NOD2):c.2886-16G>C	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Regional enteritis +2 more	GBenign/Likely benign
Select item 4691	NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	CYLD-AS1, NOD2 (L980fs +1 more)	Duplication	Blau syndrome +6 more	GConflicting classifications of pathogenicity; association

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Items: 83