"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694106	NM_001370466.1(NOD2):c.-8-2244A>G	NOD2 (M1V)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1694113	NM_001370466.1(NOD2):c.-8-2242G>A	NOD2 (M1I)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory syndrome	GUncertain significance
Select item 319423	NM_001370466.1(NOD2):c.-8-2193G>A	NOD2 (V18I)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GUncertain significance
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 758468	NM_001370466.1(NOD2):c.-8-2174C>T	NOD2 (P24L)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 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 1694119	NM_001370466.1(NOD2):c.-7T>C	NOD2	Single nucleotide variant (5 prime UTR variant +2 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694122	NM_001370466.1(NOD2):c.8C>T (p.Ser3Leu)	NOD2 (S30L +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1648109	NM_001370466.1(NOD2):c.162C>T (p.Leu54=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
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 531606	NM_001370466.1(NOD2):c.233C>T (p.Ala78Val)	NOD2 (A105V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
Select item 1694112	NM_001370466.1(NOD2):c.251A>G (p.Gln84Arg)	NOD2 (Q111R +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1142940	NM_001370466.1(NOD2):c.255C>T (p.Ala85=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GLikely benign
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 531615	NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu)	NOD2 (P125L +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +4 more	GLikely benign
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 1694114	NM_001370466.1(NOD2):c.359G>A (p.Ser120Asn)	NOD2 (S120N +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GLikely 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 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 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 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 788178	NM_001370466.1(NOD2):c.486G>A (p.Thr162=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1694115	NM_001370466.1(NOD2):c.526G>A (p.Val176Ile)	NOD2 (V176I +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1694116	NM_001370466.1(NOD2):c.545C>T (p.Pro182Leu)	NOD2 (P182L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GLikely benign
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 97879	NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys)	NOD2 (R235C +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1694117	NM_001370466.1(NOD2):c.649G>A (p.Glu217Lys)	NOD2 (E217K +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	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 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 1694120	NM_001370466.1(NOD2):c.722C>T (p.Pro241Leu)	NOD2 (P241L +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
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 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 1694121	NM_001370466.1(NOD2):c.788A>T (p.Asp263Val)	NOD2 (D263V +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 319441	NM_001370466.1(NOD2):c.794C>T (p.Ala265Val)	NOD2 (A292V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 97883	NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser)	NOD2 (T294S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 531612	NM_001370466.1(NOD2):c.840G>A (p.Thr280=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
Select item 1095701	NM_001370466.1(NOD2):c.873A>C (p.Ala291=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
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 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 1694440	NM_001370466.1(NOD2):c.1088A>G (p.Asp363Gly)	NOD2 (D363G +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1043683	NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val)	NOD2 (D363V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
Select item 319442	NM_001370466.1(NOD2):c.1091G>A (p.Arg364His)	NOD2 (R391H +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GBenign/Likely benign
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 1694441	NM_001370466.1(NOD2):c.1167G>A (p.Leu389=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1097717	NM_001370466.1(NOD2):c.1182G>A (p.Lys394=)	NOD2	Single nucleotide variant (synonymous 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)	Blau syndrome +3 more	GBenign/Likely benign
Select item 97825	NM_001370466.1(NOD2):c.1200G>A (p.Pro400=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +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 651644	NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val)	NOD2 (A432V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 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)	Blau 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)	not provided +3 more	GLikely benign
Select item 97829	NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp)	NOD2 (G464W +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 1694442	NM_001370466.1(NOD2):c.1316C>T (p.Ala439Val)	NOD2 (A439V +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 961037	NM_001370466.1(NOD2):c.1322G>A (p.Arg441His)	NOD2 (R441H +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
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 1694443	NM_001370466.1(NOD2):c.1345A>C (p.Thr449Pro)	NOD2 (T449P +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GLikely pathogenic
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 1035561	NM_001370466.1(NOD2):c.1378G>A (p.Val460Ile)	NOD2 (V460I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 570310	NM_001370466.1(NOD2):c.1434del (p.Ser479fs)	NOD2 (S479fs +1 more)	Deletion (frameshift variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1507983	NM_001370466.1(NOD2):c.1445C>A (p.Thr482Asn)	NOD2 (T509N +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GUncertain significance
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 1134828	NM_001370466.1(NOD2):c.1462C>T (p.Leu488=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1165780	NM_001370466.1(NOD2):c.1464G>T (p.Leu488=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +2 more	GBenign/Likely benign
Select item 1694105	NM_001370466.1(NOD2):c.1605C>T (p.Cys535=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1156906	NM_001370466.1(NOD2):c.1677G>T (p.Val559=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
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 1391926	NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)	NOD2 (A597V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GUncertain significance
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 793826	NM_001370466.1(NOD2):c.1875G>A (p.Ser625=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GLikely benign
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 103118	NM_001370466.1(NOD2):c.1923G>A (p.Pro641=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1694107	NM_001370466.1(NOD2):c.1931T>G (p.Leu644Arg)	NOD2 (L644R +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1413813	NM_001370466.1(NOD2):c.1950C>G (p.Phe650Leu)	NOD2 (F650L +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 319458	NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp)	NOD2 (R684W +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GBenign/Likely benign
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 1694108	NM_001370466.1(NOD2):c.2024G>A (p.Arg675Gln)	NOD2 (R675Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
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 319460	NM_001370466.1(NOD2):c.2066G>A (p.Arg689His)	NOD2 (R716H +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 650404	NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)	NOD2 (P723L +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
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 653293	NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp)	NOD2 (R717W +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
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 97847	NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val)	NOD2 (A758V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 97848	NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys)	NOD2 (E778K +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 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 1165567	NM_001370466.1(NOD2):c.2381+7G>T	NOD2	Single nucleotide variant (intron variant)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
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 1694109	NM_001370466.1(NOD2):c.2387G>A (p.Arg796His)	NOD2 (R796H +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 734538	NM_001370466.1(NOD2):c.2389G>A (p.Asp797Asn)	NOD2 (D824N +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GBenign/Likely benign

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