"Illumina Laboratory Services, Illumina"[submitter] AND "NOD2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 133

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 319418	NM_001370466.1(NOD2):c.-8-2340del	NOD2	Deletion (5 prime UTR variant +1 more)	Crohn disease +1 more	GLikely benign
Select item 319419	NM_001370466.1(NOD2):c.-8-2303G>A	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease 1 +2 more	GBenign
Select item 319420	NM_001370466.1(NOD2):c.-8-2302T>C	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
Select item 319421	NM_001370466.1(NOD2):c.-8-2297C>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319422	NM_001370466.1(NOD2):c.-8-2258C>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
Select item 885199	NM_001370466.1(NOD2):c.-8-2202A>G	NOD2 (R15G)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319423	NM_001370466.1(NOD2):c.-8-2193G>A	NOD2 (V18I)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GUncertain significance
Select item 97880	NM_001370466.1(NOD2):c.-8-7T>A	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 319424	NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu)	NOD2 (S47L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 631747	NM_001370466.1(NOD2):c.198G>A (p.Trp66Ter)	NOD2 (W93* +1 more)	Single nucleotide variant (nonsense +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 886096	NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr)	NOD2 (A105T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 886097	NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr)	NOD2 (A83T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 97877	NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln)	NOD2 (R138Q +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 462700	NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr)	NOD2 (A140T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 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)	NOD2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 319427	NM_001370466.1(NOD2):c.403G>A (p.Val135Ile)	NOD2 (V162I +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 887101	NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe)	NOD2 (L145F +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +2 more	GUncertain significance
Select item 319428	NM_001370466.1(NOD2):c.450G>A (p.Pro150=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +2 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)	Blau syndrome +4 more	GBenign
Select item 319430	NM_001370466.1(NOD2):c.460-3T>C	NOD2	Single nucleotide variant (intron variant)	Inflammatory bowel disease 1 +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 885262	NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp)	NOD2 (A170D +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GUncertain significance
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 319433	NM_001370466.1(NOD2):c.565+15T>C	NOD2	Single nucleotide variant (intron variant)	Blau syndrome +2 more	GBenign/Likely benign
Select item 885263	NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile)	NOD2 (T191I +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 886159	NM_001370466.1(NOD2):c.605C>T (p.Thr202Met)	NOD2 (T202M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 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 319434	NM_001370466.1(NOD2):c.653C>T (p.Thr218Met)	NOD2 (T245M +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +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 provided +5 more	GBenign
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 319437	NM_001370466.1(NOD2):c.747G>A (p.Leu249=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
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 319439	NM_001370466.1(NOD2):c.778C>T (p.His260Tyr)	NOD2 (H287Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +2 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 condition +5 more	GConflicting classifications of pathogenicity
Select item 765940	NM_001370466.1(NOD2):c.789C>T (p.Asp263=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
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 97885	NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)	NOD2 (R311W +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 97819	NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala)	NOD2 (D357A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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)	Autoinflammatory syndrome +5 more	GConflicting classifications of pathogenicity
Select item 725043	NM_001370466.1(NOD2):c.1188G>A (p.Val396=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +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 +4 more	GBenign/Likely benign
Select item 97825	NM_001370466.1(NOD2):c.1200G>A (p.Pro400=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +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 +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)	Regional enteritis +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)	NOD2-related condition +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 319445	NM_001370466.1(NOD2):c.1296C>T (p.Arg432=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +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)	NOD2-related condition +5 more	GBenign/Likely benign
Select item 97832	NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr)	NOD2 (C495Y +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	GPathogenic
Select item 97833	NM_001370466.1(NOD2):c.1428G>A (p.Glu476=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 631748	NM_001370466.1(NOD2):c.1502dup (p.Asp502fs)	NOD2 (D502fs +1 more)	Duplication (frameshift variant +1 more)	Blau syndrome	GUncertain significance
Select item 888495	NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser)	NOD2 (A531S +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319447	NM_001370466.1(NOD2):c.1522C>T (p.Leu508=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +3 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 319449	NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +3 more	GLikely benign
Select item 319450	NM_001370466.1(NOD2):c.1680T>G (p.Arg560=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 649658	NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys)	NOD2 (F582C +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GConflicting classifications of pathogenicity
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 319452	NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser)	NOD2 (A612S +1 more)	Single nucleotide variant (missense variant +1 more)	NOD2-related condition +3 more	GLikely benign
Select item 4700	NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)	NOD2 (A612T +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +5 more	GConflicting classifications of pathogenicity
Select item 319453	NM_001370466.1(NOD2):c.1758C>T (p.Phe586=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	NOD2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 319454	NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val)	NOD2 (A619V +1 more)	Single nucleotide variant (missense variant +1 more)	NOD2-related condition +2 more	GUncertain significance
Select item 319455	NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro)	NOD2 (A661P +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 319456	NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu)	NOD2 (P668L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
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 319458	NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp)	NOD2 (R684W +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +3 more	GBenign/Likely benign
Select item 4693	NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)	NOD2 (R702W +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +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)	Inflammatory bowel disease 1 +5 more	GConflicting classifications of pathogenicity
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 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 +5 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)	NOD2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 319463	NM_001370466.1(NOD2):c.2249C>A (p.Thr750Asn)	NOD2 (T777N +1 more)	Single nucleotide variant (missense variant +1 more)	NOD2-related condition +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)	Inflammatory bowel disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 319464	NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)	NOD2 (L789F +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 97849	NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp)	NOD2 (R791W +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +2 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)	Inflammatory bowel disease 1 +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 +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)	not provided +4 more	GBenign/Likely benign
Select item 319465	NM_001370466.1(NOD2):c.2381+10A>C	NOD2	Single nucleotide variant (intron variant)	not provided +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 319467	NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln)	NOD2 (R830Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 319468	NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val)	NOD2 (I832V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +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 631749	NM_001370466.1(NOD2):c.2465+1G>A	NOD2	Single nucleotide variant (splice donor variant)	Inflammatory bowel disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 319469	NM_001370466.1(NOD2):c.2466-11G>T	NOD2	Single nucleotide variant (intron variant)	Blau syndrome +2 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)	Blau syndrome +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)	Blau syndrome +5 more	GBenign/Likely benign
Select item 319470	NM_001370466.1(NOD2):c.2551C>T (p.Leu851=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 319471	NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys)	NOD2 (Q902K +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 319472	NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau 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)	Blau syndrome +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)	Inflammatory bowel disease 1 +7 more	GConflicting classifications of pathogenicity; association
Select item 319473	NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys)	NOD2 (E914K +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance

<< First< Prev

Page of 2