ClinVar for Gene (Select 64127) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3901668	NM_001370466.1(NOD2):c.85G>C (p.Val29Leu)	NOD2 (V29L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3900371	NM_001370466.1(NOD2):c.2806GAG[1] (p.Glu937del)	NOD2 (E937del +1 more)	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 3895602	NM_001370466.1(NOD2):c.1183G>C (p.Val395Leu)	NOD2 (V395L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3891842	NM_001370466.1(NOD2):c.2278C>T (p.Gln760Ter)	NOD2 (Q787* +1 more)	Single nucleotide variant (nonsense +1 more)	Yao syndrome +2 more	GUncertain significance
Select item 3880234	NM_001370466.1(NOD2):c.2660A>T (p.Glu887Val)	NOD2 (E887V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3880233	NM_001370466.1(NOD2):c.1862G>A (p.Cys621Tyr)	NOD2 (C648Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3880232	NM_001370466.1(NOD2):c.2761G>T (p.Ala921Ser)	NOD2 (A948S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3880231	NM_001370466.1(NOD2):c.470T>C (p.Leu157Pro)	NOD2 (L157P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3880230	NM_001370466.1(NOD2):c.1708G>T (p.Ala570Ser)	NOD2 (A597S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3778424	NM_001370466.1(NOD2):c.2048G>A (p.Cys683Tyr)	NOD2 (C683Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3777046	NM_001370466.1(NOD2):c.1594G>A (p.Gly532Ser)	NOD2 (G532S +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 3774413	GRCh37/hg19 16q11.2-24.3(chr16:46432879-90294753)x3	CIBAR2, CKLF +368 more	Copy number gain	Partial trisomy of the long arm of chromosome 16	GPathogenic
Select item 3771850	NM_001370466.1(NOD2):c.2262C>T (p.Ala754=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3766811	NM_001370466.1(NOD2):c.595C>T (p.Leu199=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3766528	NM_001370466.1(NOD2):c.460G>T (p.Ala154Ser)	NOD2 (A154S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3766479	NM_001370466.1(NOD2):c.961C>T (p.Leu321=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3763670	NM_001370466.1(NOD2):c.2609G>T (p.Gly870Val)	NOD2 (G870V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 3763576	NM_001370466.1(NOD2):c.410A>G (p.Gln137Arg)	NOD2 (Q137R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 3763525	NM_001370466.1(NOD2):c.1053T>C (p.Phe351=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +2 more	GLikely benign
Select item 3763318	NM_001370466.1(NOD2):c.2305C>T (p.Gln769Ter)	NOD2 (Q769* +1 more)	Single nucleotide variant (nonsense +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 3763239	NM_001370466.1(NOD2):c.689T>G (p.Leu230Arg)	NOD2 (L230R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 3763185	NM_001370466.1(NOD2):c.2756C>T (p.Ala919Val)	NOD2 (A919V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 3763119	NM_001370466.1(NOD2):c.847C>T (p.Gln283Ter)	NOD2 (Q283* +1 more)	Single nucleotide variant (nonsense +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 3763086	NM_001370466.1(NOD2):c.566-12T>C	NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GLikely benign
Select item 3763060	NM_001370466.1(NOD2):c.1399A>C (p.Lys467Gln)	NOD2 (K467Q +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 3762600	NM_001370466.1(NOD2):c.2732A>G (p.Asn911Ser)	NOD2 (N911S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3762558	NM_001370466.1(NOD2):c.2164A>G (p.Met722Val)	NOD2 (M722V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3762519	NM_001370466.1(NOD2):c.513C>G (p.Phe171Leu)	NOD2 (F171L +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3762499	NM_001370466.1(NOD2):c.2108C>T (p.Ala703Val)	NOD2 (A703V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3761973	NM_001370466.1(NOD2):c.2969+11del	CYLD-AS1, NOD2	Deletion (non-coding transcript variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3761737	NM_001370466.1(NOD2):c.1967C>T (p.Ser656Phe)	NOD2 (S656F +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3761449	NM_001370466.1(NOD2):c.-8-15T>C	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3760828	NM_001370466.1(NOD2):c.876G>A (p.Gly292=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3760292	NM_001370466.1(NOD2):c.945A>G (p.Pro315=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3759771	NM_001370466.1(NOD2):c.2718-10T>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 3759144	NM_001370466.1(NOD2):c.1958G>A (p.Gly653Glu)	NOD2 (G653E +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3759143	NM_001370466.1(NOD2):c.824G>A (p.Gly275Asp)	NOD2 (G275D +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3758808	NM_001370466.1(NOD2):c.1672C>T (p.Leu558=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3757721	NM_001370466.1(NOD2):c.2801+13G>T	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 3757680	NM_001370466.1(NOD2):c.2643C>T (p.Gly881=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3757289	NM_001370466.1(NOD2):c.2886-15T>C	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 3757248	NM_001370466.1(NOD2):c.1154A>G (p.Gln385Arg)	NOD2 (Q385R +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3757098	NM_001370466.1(NOD2):c.-8-2244A>T	NOD2 (M1L)	Single nucleotide variant (missense variant +2 more)	Regional enteritis +1 more	GUncertain significance
Select item 3756983	NM_001370466.1(NOD2):c.66C>G (p.Ser22=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3756368	NM_001370466.1(NOD2):c.2142G>A (p.Trp714Ter)	NOD2 (W714* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3756242	NM_001370466.1(NOD2):c.2604C>T (p.Leu868=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3755996	NM_001370466.1(NOD2):c.2633+1G>A	NOD2	Single nucleotide variant (splice donor variant)	Regional enteritis +1 more	GUncertain significance
Select item 3755684	NM_001370466.1(NOD2):c.1527A>G (p.Gly509=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3755530	NM_001370466.1(NOD2):c.1012C>T (p.Gln338Ter)	NOD2 (Q338* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754841	NM_001370466.1(NOD2):c.2208T>C (p.Asn736=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3754638	NM_001370466.1(NOD2):c.1932dup (p.Gln645fs)	NOD2 (Q645fs +1 more)	Duplication (frameshift variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754429	NM_001370466.1(NOD2):c.1495A>G (p.Thr499Ala)	NOD2 (T499A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754303	NM_001370466.1(NOD2):c.595C>G (p.Leu199Val)	NOD2 (L199V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754278	NM_001370466.1(NOD2):c.1877A>C (p.Glu626Ala)	NOD2 (E626A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754277	NM_001370466.1(NOD2):c.1654G>A (p.Asp552Asn)	NOD2 (D552N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754276	NM_001370466.1(NOD2):c.1400A>C (p.Lys467Thr)	NOD2 (K467T +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754275	NM_001370466.1(NOD2):c.1279C>G (p.Leu427Val)	NOD2 (L427V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754274	NM_001370466.1(NOD2):c.1208T>C (p.Val403Ala)	NOD2 (V403A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754273	NM_001370466.1(NOD2):c.1154A>T (p.Gln385Leu)	NOD2 (Q385L +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754272	NM_001370466.1(NOD2):c.991G>T (p.Val331Phe)	NOD2 (V331F +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754271	NM_001370466.1(NOD2):c.985C>A (p.Pro329Thr)	NOD2 (P329T +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754270	NM_001370466.1(NOD2):c.704A>T (p.Asp235Val)	NOD2 (D235V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754269	NM_001370466.1(NOD2):c.638A>C (p.Tyr213Ser)	NOD2 (Y213S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754268	NM_001370466.1(NOD2):c.247G>T (p.Ala83Ser)	NOD2 (A110S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754267	NM_001370466.1(NOD2):c.-8-2175C>G	NOD2 (P24A)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754266	NM_001370466.1(NOD2):c.-8-2212T>G	NOD2 (D11E)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754231	NM_001370466.1(NOD2):c.2897A>C (p.Asn966Thr)	CYLD-AS1, NOD2 (N966T +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754230	NM_001370466.1(NOD2):c.2779A>G (p.Asn927Asp)	NOD2 (N927D +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754229	NM_001370466.1(NOD2):c.2615C>A (p.Thr872Asn)	NOD2 (T872N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754228	NM_001370466.1(NOD2):c.2480A>G (p.Lys827Arg)	NOD2 (K827R +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3754227	NM_001370466.1(NOD2):c.2180T>A (p.Leu727Gln)	NOD2 (L727Q +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3753421	NM_001370466.1(NOD2):c.500G>T (p.Gly167Val)	NOD2 (G167V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3753242	NM_001370466.1(NOD2):c.2448G>A (p.Glu816=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3753146	NM_001370466.1(NOD2):c.792T>C (p.Asp264=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3753047	NM_001370466.1(NOD2):c.1671C>T (p.Phe557=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3752942	NM_001370466.1(NOD2):c.2304G>A (p.Leu768=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3752557	NM_001370466.1(NOD2):c.1962G>A (p.Leu654=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3752502	NM_001370466.1(NOD2):c.1864A>T (p.Ile622Phe)	NOD2 (I622F +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3752126	NM_001370466.1(NOD2):c.2822A>G (p.Gln941Arg)	NOD2 (Q941R +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3752009	NM_001370466.1(NOD2):c.1457T>A (p.Met486Lys)	NOD2 (M486K +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3751996	NM_001370466.1(NOD2):c.436C>T (p.Pro146Ser)	NOD2 (P146S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3751690	NM_001370466.1(NOD2):c.2435C>G (p.Ala812Gly)	NOD2 (A812G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3751617	NM_001370466.1(NOD2):c.1086G>A (p.Thr362=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3751542	NM_001370466.1(NOD2):c.2718-7C>G	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GUncertain significance
Select item 3751541	NM_001370466.1(NOD2):c.2718-16C>G	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 3751049	NM_001370466.1(NOD2):c.1927A>G (p.Asn643Asp)	NOD2 (N643D +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3751044	NM_001370466.1(NOD2):c.1047_1053del (p.Thr350fs)	NOD2 (T350fs +1 more)	Deletion (frameshift variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3751002	NM_001370466.1(NOD2):c.690G>A (p.Leu230=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3750788	NM_001370466.1(NOD2):c.2216A>G (p.His739Arg)	NOD2 (H739R +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3750492	NM_001370466.1(NOD2):c.2886-4C>T	CYLD-AS1, NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 3750480	NM_001370466.1(NOD2):c.2407C>A (p.Arg803=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3750330	NM_001370466.1(NOD2):c.2885+13T>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 3750323	NM_001370466.1(NOD2):c.2403A>C (p.Ser801=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3750123	NM_001370466.1(NOD2):c.405C>A (p.Val135=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 3750122	NM_001370466.1(NOD2):c.398G>A (p.Gly133Asp)	NOD2 (G133D +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3749795	NM_001370466.1(NOD2):c.460-18C>A	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 3749732	NM_001370466.1(NOD2):c.-8-2173G>C	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3749508	NM_001370466.1(NOD2):c.2846C>T (p.Ala949Val)	NOD2 (A949V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3749373	NM_001370466.1(NOD2):c.817G>A (p.Glu273Lys)	NOD2 (E273K +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 3749358	NM_001370466.1(NOD2):c.326G>A (p.Ser109Asn)	NOD2 (S109N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance

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