ClinVar for Gene (Select 64127) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366706	NM_001370466.1(NOD2):c.-8-2206G>A	NOD2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3364670	NM_001370466.1(NOD2):c.91G>C (p.Asp31His)	NOD2 (D31H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362267	NM_001370466.1(NOD2):c.2865T>G (p.Asn955Lys)	NOD2 (N955K +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	GUncertain significance
Select item 3361242	NM_001370466.1(NOD2):c.2550-2A>G	NOD2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3360439	NM_001370466.1(NOD2):c.1421T>C (p.Leu474Pro)	NOD2 (L474P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3349959	NM_001370466.1(NOD2):c.761T>A (p.Leu254His)	NOD2 (L254H +1 more)	Single nucleotide variant (missense variant +1 more)	NOD2-related disorder	GUncertain significance
Select item 3300248	NM_001370466.1(NOD2):c.2318A>G (p.Asn773Ser)	NOD2 (N800S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300247	NM_001370466.1(NOD2):c.1021C>T (p.Leu341Phe)	NOD2 (L341F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3251231	NM_001370466.1(NOD2):c.1678_1680delinsTGG (p.Arg560Trp)	NOD2 (R560W +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3243395	NC_000016.9:g.(?_50731155)_(51631253_?)dup	CYLD, NOD2 +1 more	Duplication	Blau syndrome +1 more	GUncertain significance
Select item 3201022	NM_001370466.1(NOD2):c.2552T>C (p.Leu851Pro)	NOD2 (L851P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068617	NM_001370466.1(NOD2):c.139T>C (p.Phe47Leu)	NOD2 (F47L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	GUncertain significance
Select item 3033003	NM_001370466.1(NOD2):c.2088G>T (p.Pro696=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	NOD2-related disorder	GLikely benign
Select item 3031416	NM_001370466.1(NOD2):c.654G>A (p.Thr218=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	NOD2-related disorder	GLikely benign
Select item 3029544	NM_001370466.1(NOD2):c.3019A>C (p.Arg1007=)	CYLD-AS1, NOD2	Single nucleotide variant (synonymous variant +1 more)	NOD2-related disorder	GLikely benign
Select item 2954546	NM_001370466.1(NOD2):c.1141T>G (p.Phe381Val)	NOD2 (F381V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2953250	NM_001370466.1(NOD2):c.2649A>G (p.Arg883=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2953198	NM_001370466.1(NOD2):c.2042G>C (p.Arg681Pro)	NOD2 (R708P +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2952560	NM_001370466.1(NOD2):c.1071C>T (p.Phe357=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2952402	NM_001370466.1(NOD2):c.399T>A (p.Gly133=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2952199	NM_001370466.1(NOD2):c.1363T>C (p.Leu455=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2951496	NM_001370466.1(NOD2):c.459+17G>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2951478	NM_001370466.1(NOD2):c.676A>G (p.Thr226Ala)	NOD2 (T226A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2951437	NM_001370466.1(NOD2):c.2115C>T (p.Ser705=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2950957	NM_001370466.1(NOD2):c.1338C>T (p.Leu446=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2950869	NM_001370466.1(NOD2):c.1356G>A (p.Leu452=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2950164	NM_001370466.1(NOD2):c.2466-6G>A	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2950157	NM_001370466.1(NOD2):c.1939A>G (p.Thr647Ala)	NOD2 (T674A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2949800	NM_001370466.1(NOD2):c.1086G>C (p.Thr362=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2949556	NM_001370466.1(NOD2):c.578A>G (p.Lys193Arg)	NOD2 (K193R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2949396	NM_001370466.1(NOD2):c.2717+18T>C	NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GLikely benign
Select item 2948891	NM_001370466.1(NOD2):c.1429G>A (p.Gly477Arg)	NOD2 (G477R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2948852	NM_001370466.1(NOD2):c.3036G>T (p.Leu1012Phe)	CYLD-AS1, NOD2 (L1039F +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2948828	NM_001370466.1(NOD2):c.1560C>T (p.Leu520=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2948463	NM_001370466.1(NOD2):c.-8-2184G>T	NOD2 (G21*)	Single nucleotide variant (nonsense +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2948146	NM_001370466.1(NOD2):c.2831G>C (p.Gly944Ala)	NOD2 (G971A +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2948015	NM_001370466.1(NOD2):c.2106G>A (p.Glu702=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2947375	NM_001370466.1(NOD2):c.1728C>T (p.His576=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2947207	NM_001370466.1(NOD2):c.1976A>C (p.His659Pro)	NOD2 (H659P +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2946337	NM_001370466.1(NOD2):c.1846C>T (p.Leu616Phe)	NOD2 (L616F +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2946319	NM_001370466.1(NOD2):c.1035C>T (p.Asp345=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2945987	NM_001370466.1(NOD2):c.176G>A (p.Arg59Lys)	NOD2 (R86K +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2945824	NM_001370466.1(NOD2):c.1174G>A (p.Ala392Thr)	NOD2 (A392T +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2945691	NM_001370466.1(NOD2):c.2585A>C (p.Gln862Pro)	NOD2 (Q862P +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2945641	NM_001370466.1(NOD2):c.2633+12T>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2945472	NM_001370466.1(NOD2):c.809dup (p.Val271fs)	NOD2 (V271fs +1 more)	Duplication (frameshift variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2945171	NM_001370466.1(NOD2):c.1382T>C (p.Phe461Ser)	NOD2 (F461S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2944867	NM_001370466.1(NOD2):c.54G>A (p.Leu18=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2944766	NM_001370466.1(NOD2):c.1589G>T (p.Gly530Val)	NOD2 (G530V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2944264	NM_001370466.1(NOD2):c.1572C>T (p.Gly524=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2944063	NM_001370466.1(NOD2):c.1581T>A (p.Ala527=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2943764	NM_001370466.1(NOD2):c.2856G>A (p.Leu952=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2943520	NM_001370466.1(NOD2):c.1650T>C (p.Pro550=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2943478	NM_001370466.1(NOD2):c.425A>G (p.Glu142Gly)	NOD2 (E142G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2943157	NM_001370466.1(NOD2):c.2067C>T (p.Arg689=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2942821	NM_001370466.1(NOD2):c.2590C>G (p.Leu864Val)	NOD2 (L891V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2942565	NM_001370466.1(NOD2):c.2718-11A>T	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2941716	NM_001370466.1(NOD2):c.2369G>A (p.Cys790Tyr)	NOD2 (C790Y +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2941599	NM_001370466.1(NOD2):c.2381+12T>A	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2941579	NM_001370466.1(NOD2):c.70G>T (p.Glu24Ter)	NOD2 (E24* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2941226	NM_001370466.1(NOD2):c.1227G>T (p.Lys409Asn)	NOD2 (K409N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2941190	NM_001370466.1(NOD2):c.1184T>G (p.Val395Gly)	NOD2 (V422G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940981	NM_001370466.1(NOD2):c.-8-2219C>T	NOD2 (S9F)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940882	NM_001370466.1(NOD2):c.2549+8C>T	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2940561	NM_001370466.1(NOD2):c.397G>A (p.Gly133Ser)	NOD2 (G133S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940541	NM_001370466.1(NOD2):c.1121C>A (p.Thr374Asn)	NOD2 (T374N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940316	NM_001370466.1(NOD2):c.2634-15T>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2940111	NM_001370466.1(NOD2):c.2123C>T (p.Ala708Val)	NOD2 (A735V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940073	NM_001370466.1(NOD2):c.699G>C (p.Trp233Cys)	NOD2 (W233C +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2939893	NM_001370466.1(NOD2):c.2802-8C>G	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2939855	NM_001370466.1(NOD2):c.1851_1852delinsAA (p.Pro618Thr)	NOD2 (P618T +1 more)	Indel (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2939629	NM_001370466.1(NOD2):c.1360G>A (p.Gly454Ser)	NOD2 (G481S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2939466	NM_001370466.1(NOD2):c.29A>G (p.Gln10Arg)	NOD2 (Q10R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2939106	NM_001370466.1(NOD2):c.1114G>A (p.Asp372Asn)	NOD2 (D399N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2938840	NM_001370466.1(NOD2):c.185T>C (p.Leu62Pro)	NOD2 (L89P +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2938818	NM_001370466.1(NOD2):c.1766C>T (p.Ala589Val)	NOD2 (A589V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2938717	NM_001370466.1(NOD2):c.2633+7T>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2938328	NM_001370466.1(NOD2):c.452_453delinsTG (p.Ser151Leu)	NOD2 (S151L +1 more)	Indel (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2937969	NM_001370466.1(NOD2):c.2163G>A (p.Glu721=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2937950	NM_001370466.1(NOD2):c.444C>T (p.Phe148=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2937622	NM_001370466.1(NOD2):c.375G>T (p.Met125Ile)	NOD2 (M125I +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2937452	NM_001370466.1(NOD2):c.509C>T (p.Ala170Val)	NOD2 (A170V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2937447	NM_001370466.1(NOD2):c.721C>G (p.Pro241Ala)	NOD2 (P241A +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2937144	NM_001370466.1(NOD2):c.525T>C (p.His175=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2937093	NM_001370466.1(NOD2):c.183T>C (p.Leu61=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2937013	NM_001370466.1(NOD2):c.2548A>G (p.Arg850Gly)	NOD2 (R850G +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2936995	NM_001370466.1(NOD2):c.903C>T (p.Val301=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2936884	NM_001370466.1(NOD2):c.529C>T (p.Gln177Ter)	NOD2 (Q177* +1 more)	Single nucleotide variant (nonsense +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2936815	NM_001370466.1(NOD2):c.1445C>G (p.Thr482Ser)	NOD2 (T509S +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2936669	NM_001370466.1(NOD2):c.2421G>A (p.Lys807=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2936518	NM_001370466.1(NOD2):c.2137A>G (p.Ile713Val)	NOD2 (I713V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2936517	NM_001370466.1(NOD2):c.2624A>G (p.Gln875Arg)	NOD2 (Q875R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2936499	NM_001370466.1(NOD2):c.2969+13G>A	CYLD-AS1, NOD2	Single nucleotide variant (non-coding transcript variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2936162	NM_001370466.1(NOD2):c.282C>A (p.Gly94=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2935987	NM_001370466.1(NOD2):c.817G>T (p.Glu273Ter)	NOD2 (E273* +1 more)	Single nucleotide variant (nonsense +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2934983	NM_001370466.1(NOD2):c.2096C>T (p.Ala699Val)	NOD2 (A726V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2934952	NM_001370466.1(NOD2):c.-8G>C	NOD2 (G25A)	Single nucleotide variant (5 prime UTR variant +2 more)	Blau syndrome +1 more	GUncertain significance
Select item 2934753	NM_001370466.1(NOD2):c.1520G>A (p.Gly507Asp)	NOD2 (G507D +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2934735	NM_001370466.1(NOD2):c.2465+20G>A	NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GLikely benign

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