Related gene-specific medical variations for Gene (Select 64127) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2933406	NM_001370466.1(NOD2):c.3002T>C (p.Val1001Ala)	CYLD-AS1, NOD2 (V1028A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2932739	NM_001370466.1(NOD2):c.3037C>A (p.Leu1013Ile)	CYLD-AS1, NOD2 (L1040I +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2925554	NM_001370466.1(NOD2):c.2917del (p.Ala973fs)	NOD2, CYLD-AS1 (A1000fs +1 more)	Deletion (non-coding transcript variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2921734	NM_001370466.1(NOD2):c.2959C>T (p.Leu987=)	CYLD-AS1, NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2576189	NM_001370466.1(NOD2):c.2036G>A (p.Cys679Tyr)	NOD2 (C679Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2556632	NM_001370466.1(NOD2):c.2894A>G (p.Asn965Ser)	CYLD-AS1, NOD2 (N965S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2434384	NM_001370466.1(NOD2):c.695T>G (p.Val232Gly)	NOD2 (V232G +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	GUncertain significance
Select item 2434383	NM_001370466.1(NOD2):c.878A>G (p.Gln293Arg)	NOD2 (Q293R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	GUncertain significance
Select item 2170482	NM_001370466.1(NOD2):c.2948A>G (p.Asn983Ser)	CYLD-AS1, NOD2 (N1010S +1 more)	Single nucleotide variant (missense variant +1 more)	NOD2-related disorder +2 more	GUncertain significance
Select item 2035101	NM_001370466.1(NOD2):c.2886-12C>T	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GLikely benign
Select item 2014681	NM_001370466.1(NOD2):c.2969+15C>A	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 1969358	NM_001370466.1(NOD2):c.2985T>C (p.Thr995=)	CYLD-AS1, NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 1631179	NM_001370466.1(NOD2):c.2886-11T>G	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GBenign
Select item 1622487	NM_001370466.1(NOD2):c.3012C>T (p.Leu1004=)	CYLD-AS1, NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 1570244	NM_001370466.1(NOD2):c.2886-17T>C	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GLikely benign
Select item 1569605	NM_001370466.1(NOD2):c.2970-16A>G	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GLikely benign
Select item 1564537	NM_001370466.1(NOD2):c.2969+14G>A	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GLikely benign
Select item 1538337	NM_001370466.1(NOD2):c.2886-9C>A	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GLikely benign
Select item 1513192	NM_001370466.1(NOD2):c.2957T>C (p.Ile986Thr)	CYLD-AS1, NOD2 (I986T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 1367627	NM_001370466.1(NOD2):c.2935G>C (p.Ala979Pro)	CYLD-AS1, NOD2 (A979P +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 1184615	NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu)	NOD2 (M464L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	GLikely pathogenic
Select item 1165457	NM_001370466.1(NOD2):c.3015C>A (p.Gly1005=)	CYLD-AS1, NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GBenign
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 1098656	NM_001370466.1(NOD2):c.1579del (p.Ala527fs)	NOD2 (A527fs +1 more)	Deletion (frameshift variant +1 more)	Blau syndrome	GUncertain significance
Select item 1063290	NM_001370466.1(NOD2):c.3022G>A (p.Asp1008Asn)	CYLD-AS1, NOD2 (D1008N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 1041706	NM_001370466.1(NOD2):c.2886G>A (p.Lys962=)	CYLD-AS1, NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 1025574	NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile)	NOD2, CYLD-AS1 (T969I +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance
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 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 967230	NM_001370466.1(NOD2):c.3001G>A (p.Val1001Ile)	CYLD-AS1, NOD2 (V1001I +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 961982	NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly)	CYLD-AS1, NOD2 (R1009G +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 955794	NM_001370466.1(NOD2):c.2971C>T (p.Leu991Phe)	CYLD-AS1, NOD2 (L1018F +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 952371	NM_001370466.1(NOD2):c.2974C>G (p.Arg992Gly)	CYLD-AS1, NOD2 (R992G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 931759	NM_001370466.1(NOD2):c.749G>A (p.Gly250Asp)	NOD2 (G250D +1 more)	Single nucleotide variant (missense variant +1 more)	Yao syndrome	GUncertain significance
Select item 887669	NM_001370466.1(NOD2):c.*609C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 885458	NM_001370466.1(NOD2):c.*1200A>G	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 885390	NM_001370466.1(NOD2):c.*183C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 884522	NM_001370466.1(NOD2):c.*1013A>G	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 884458	NM_001370466.1(NOD2):c.*64G>C	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 859920	NM_001370466.1(NOD2):c.2903T>C (p.Ile968Thr)	CYLD-AS1, NOD2 (I968T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 857275	NM_001370466.1(NOD2):c.2975G>T (p.Arg992Leu)	CYLD-AS1, NOD2 (R992L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 854593	NM_001370466.1(NOD2):c.2975G>A (p.Arg992Gln)	CYLD-AS1, NOD2 (R992Q +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 841083	NM_001370466.1(NOD2):c.2938C>T (p.Leu980Phe)	CYLD-AS1, NOD2 (L980F +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 841082	NM_001370466.1(NOD2):c.2929C>G (p.Leu977Val)	CYLD-AS1, NOD2 (L1004V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
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 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 798281	NM_001370466.1(NOD2):c.2931G>A (p.Leu977=)	CYLD-AS1, NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 757479	NM_001370466.1(NOD2):c.2979G>A (p.Gly993=)	CYLD-AS1, NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GLikely benign
Select item 648165	NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr)	CYLD-AS1, NOD2 (A973T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 641566	NM_001370466.1(NOD2):c.2915G>C (p.Gly972Ala)	CYLD-AS1, NOD2 (G972A +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 636735	NM_001370466.1(NOD2):c.2770C>G (p.Leu924Val)	NOD2 (L951V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 319493	NM_001370466.1(NOD2):c.*1201T>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319492	NM_001370466.1(NOD2):c.*1156G>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Blau syndrome +3 more	GBenign
Select item 319491	NM_001370466.1(NOD2):c.*1023C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
Select item 319490	NM_001370466.1(NOD2):c.*990T>C	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
Select item 319489	NM_001370466.1(NOD2):c.*877C>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
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
Select item 319487	NM_001370466.1(NOD2):c.*620G>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
Select item 319486	NM_001370466.1(NOD2):c.*521C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Blau syndrome +1 more	GBenign
Select item 319485	NM_001370466.1(NOD2):c.*470C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 319484	NM_001370466.1(NOD2):c.*462C>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 319483	NM_001370466.1(NOD2):c.*422C>G	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319482	NM_001370466.1(NOD2):c.*397A>C	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +2 more	GBenign
Select item 319481	NM_001370466.1(NOD2):c.*394C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319480	NM_001370466.1(NOD2):c.*382C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +2 more	GUncertain significance
Select item 319479	NM_001370466.1(NOD2):c.329_334dup	CYLD-AS1, NOD2	Duplication (3 prime UTR variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 319478	NM_001370466.1(NOD2):c.*325G>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319477	NM_001370466.1(NOD2):c.*186C>G	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 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)	Inflammatory bowel disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 319475	NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser)	CYLD-AS1, NOD2 (G1032S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
Select item 267319	NM_022162.2(NOD2):c.2197G>T (p.Val733Leu)	NOD2 (V733L +1 more)	Single nucleotide variant (missense variant +1 more)	Behcet disease	GPathogenic
Select item 267317	NM_022162.2(NOD2):c.2446G>A	NOD2 (V816I +1 more)	Single nucleotide variant (missense variant +1 more)	Behcet disease	GPathogenic
Select item 103127	NM_001370466.1(NOD2):c.-8-2021T>C	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103126	NM_001370466.1(NOD2):c.2717+148A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103125	NM_001370466.1(NOD2):c.2550-316A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103124	NM_001370466.1(NOD2):c.2466-41G>A	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103123	NM_001370466.1(NOD2):c.2465+28G>A	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103122	NM_001370466.1(NOD2):c.2381+218A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103121	NM_001370466.1(NOD2):c.2381+199A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103116	NM_001370466.1(NOD2):c.950C>T (p.Ser317Phe)	NOD2 (S344F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103115	NM_001370466.1(NOD2):c.-8-2335G>C	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 103114	NM_001370466.1(NOD2):c.*8G>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Blau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 103113	NM_001370466.1(NOD2):c.*80T>C	NOD2, CYLD-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 103112	NM_001370466.1(NOD2):c.*214T>C	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 103111	NM_001370466.1(NOD2):c.*192T>C	NOD2, CYLD-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 102972	NM_001370466.1(NOD2):c.-8-2388C>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 102971	NM_001370466.1(NOD2):c.-8-2406T>C	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 102970	NM_001370466.1(NOD2):c.-8-2619C>A	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102969	NM_001370466.1(NOD2):c.-9+2758A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 97903	NM_001370466.1(NOD2):c.276G>T (p.Leu92=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome	Gnot provided
Select item 97874	NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter)	NOD2, CYLD-AS1 (R1019* +1 more)	Single nucleotide variant (nonsense +1 more)	Blau syndrome	GUncertain significance
Select item 97873	NM_001370466.1(NOD2):c.2970-102C>G	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Blau syndrome	Gnot provided
Select item 97864	NM_001370466.1(NOD2):c.2638T>C (p.Trp880Arg)	NOD2 (W907R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	Gnot provided
Select item 97863	NM_001370466.1(NOD2):c.2634-81G>A	NOD2	Single nucleotide variant (intron variant)	Blau syndrome	Gnot provided

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