ClinVar for Gene (Select 3459) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352509	NM_000416.3(IFNGR1):c.85+3951_85+3953del	IFNGR1 (L11del)	Microsatellite (inframe_deletion +1 more)	IFNGR1-related disorder	GBenign
Select item 3342260	NM_000416.3(IFNGR1):c.547-1G>C	IFNGR1	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 3285375	NM_000416.3(IFNGR1):c.64G>A (p.Ala22Thr)	IFNGR1 (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285374	NM_000416.3(IFNGR1):c.659T>G (p.Val220Gly)	IFNGR1 (V210G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246197	NC_000006.11:g.(?_137143759)_(138202456_?)dup	IFNGR1, IL20RA +6 more	Duplication	not provided	GUncertain significance
Select item 3246073	NC_000006.11:g.(?_135606783)_(138202456_?)del	AHI1, BCLAF1 +12 more	Deletion	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3026973	NM_000416.3(IFNGR1):c.218G>A (p.Trp73Ter)	IFNGR1 (W32* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3022389	NM_000416.3(IFNGR1):c.461G>A (p.Gly154Glu)	IFNGR1 (G154E +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 3016880	NM_000416.3(IFNGR1):c.693A>C (p.Ser231=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 3013235	NM_000416.3(IFNGR1):c.524A>G (p.Tyr175Cys)	IFNGR1 (Y165C +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 3012034	NM_000416.3(IFNGR1):c.1059A>G (p.Thr353=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 3011773	NM_000416.3(IFNGR1):c.862-16A>G	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 3007813	NM_000416.3(IFNGR1):c.808A>G (p.Ile270Val)	IFNGR1 (I229V +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 3007510	NM_000416.3(IFNGR1):c.374-9C>T	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 3005995	NM_000416.3(IFNGR1):c.1235T>C (p.Phe412Ser)	IFNGR1 (F412S +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 3005755	NM_000416.3(IFNGR1):c.10C>T (p.Leu4Phe)	IFNGR1 (L4F)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 3000791	NM_000416.3(IFNGR1):c.927G>C (p.Thr309=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2998437	NM_000416.3(IFNGR1):c.200+13C>T	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2981631	NM_000416.3(IFNGR1):c.571A>G (p.Lys191Glu)	IFNGR1 (K191E +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2980160	NM_000416.3(IFNGR1):c.45C>T (p.Ser15=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2979517	NM_000416.3(IFNGR1):c.201-13T>G	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2977487	NM_000416.3(IFNGR1):c.513G>T (p.Val171=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2975380	NM_000416.3(IFNGR1):c.13T>C (p.Phe5Leu)	IFNGR1 (F5L)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2972952	NM_000416.3(IFNGR1):c.549C>G (p.Ile183Met)	IFNGR1 (I173M +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2971468	NM_000416.3(IFNGR1):c.567G>A (p.Thr189=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2968192	NM_000416.3(IFNGR1):c.20T>C (p.Leu7Pro)	IFNGR1 (L7P)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2961269	NM_000416.3(IFNGR1):c.712A>G (p.Ile238Val)	IFNGR1 (I197V +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2955106	NM_000416.3(IFNGR1):c.1238A>T (p.Asp413Val)	IFNGR1 (D372V +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2918390	NM_000416.3(IFNGR1):c.733+7dup	IFNGR1	Duplication (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2916761	NM_000416.3(IFNGR1):c.200+15T>C	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2913837	NM_000416.3(IFNGR1):c.1434T>C (p.Gly478=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2891117	NM_000416.3(IFNGR1):c.5C>A (p.Ala2Asp)	IFNGR1 (A2D)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2887613	NM_000416.3(IFNGR1):c.74G>T (p.Gly25Val)	IFNGR1 (G25V)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2881799	NM_000416.3(IFNGR1):c.832G>A (p.Glu278Lys)	IFNGR1 (E237K +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2876475	NM_000416.3(IFNGR1):c.1104C>A (p.Gly368=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2860623	NM_000416.3(IFNGR1):c.201-1G>C	IFNGR1	Single nucleotide variant (splice acceptor variant)	Disseminated atypical mycobacterial infection	GLikely pathogenic
Select item 2854669	NM_000416.3(IFNGR1):c.733+7T>G	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2853356	NM_000416.3(IFNGR1):c.1413C>T (p.Ser471=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2825557	NM_000416.3(IFNGR1):c.28G>A (p.Val10Ile)	IFNGR1 (V10I)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2814096	NM_000416.3(IFNGR1):c.373+9A>G	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2801423	NM_000416.3(IFNGR1):c.374-20T>C	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2800071	NM_000416.3(IFNGR1):c.680C>A (p.Thr227Lys)	IFNGR1 (T227K +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2794808	NM_000416.3(IFNGR1):c.486T>A (p.Asp162Glu)	IFNGR1 (D121E +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2780768	NM_000416.3(IFNGR1):c.750A>G (p.Pro250=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2772826	NM_000416.3(IFNGR1):c.91A>G (p.Thr31Ala)	IFNGR1 (T21A +1 more)	Single nucleotide variant (missense variant +1 more)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2771583	NM_000416.3(IFNGR1):c.203T>A (p.Val68Asp)	IFNGR1 (V58D +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2758575	NM_000416.3(IFNGR1):c.1241C>T (p.Thr414Ile)	IFNGR1 (T414I +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2754266	NM_000416.3(IFNGR1):c.1109A>G (p.His370Arg)	IFNGR1 (H370R +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2753601	NM_000416.3(IFNGR1):c.1042G>A (p.Glu348Lys)	IFNGR1 (E348K +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2746561	NM_000416.3(IFNGR1):c.653A>C (p.Glu218Ala)	IFNGR1 (E208A +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2743559	NM_000416.3(IFNGR1):c.200G>A (p.Gly67Asp)	IFNGR1 (G26D +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2742346	NM_000416.3(IFNGR1):c.34C>G (p.Gln12Glu)	IFNGR1 (Q12E)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2741584	NM_000416.3(IFNGR1):c.546+19T>C	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2738287	NM_000416.3(IFNGR1):c.437T>G (p.Phe146Cys)	IFNGR1 (F105C +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2734959	NM_000416.3(IFNGR1):c.672G>A (p.Trp224Ter)	IFNGR1 (W183* +2 more)	Single nucleotide variant (nonsense)	Disseminated atypical mycobacterial infection	GPathogenic
Select item 2721629	NM_000416.3(IFNGR1):c.182T>C (p.Val61Ala)	IFNGR1 (V20A +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2719861	NM_000416.3(IFNGR1):c.1054A>G (p.Ile352Val)	IFNGR1 (I311V +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2712775	NM_000416.3(IFNGR1):c.584G>T (p.Cys195Phe)	IFNGR1 (C154F +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2709484	NM_000416.3(IFNGR1):c.927G>A (p.Thr309=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2703316	NM_000416.3(IFNGR1):c.86-7C>T	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2700887	NM_000416.3(IFNGR1):c.86-12A>T	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2694955	NM_000416.3(IFNGR1):c.785G>A (p.Ser262Asn)	IFNGR1 (S221N +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2688498	NM_000416.3(IFNGR1):c.85+3925C>T	IFNGR1 (L2F)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2688432	NM_000416.3(IFNGR1):c.85+45G>A	IFNGR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688431	NM_000416.3(IFNGR1):c.86-2978A>G	IFNGR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688425	NM_000416.3(IFNGR1):c.86-2817G>A	IFNGR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2682630	NM_000416.3(IFNGR1):c.-19A>G	IFNGR1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2629425	NM_000416.3(IFNGR1):c.676G>T (p.Val226Phe)	IFNGR1 (V185F +2 more)	Single nucleotide variant (missense variant)	IFNGR1-related disorder	GUncertain significance
Select item 2585538	NM_000416.3(IFNGR1):c.85+1G>T	IFNGR1	Single nucleotide variant (splice donor variant)	Immunodeficiency 27A	GLikely pathogenic
Select item 2558763	NM_000416.3(IFNGR1):c.170C>G (p.Pro57Arg)	IFNGR1 (P16R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521798	NM_000416.3(IFNGR1):c.603G>T (p.Gln201His)	IFNGR1 (Q191H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507311	NM_000416.3(IFNGR1):c.111_116delinsAATGTTA (p.Glu38fs)	IFNGR1 (E28fs +1 more)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2446486	NM_000416.3(IFNGR1):c.711del (p.Ile238fs)	IFNGR1 (I197fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2440869	NM_000416.3(IFNGR1):c.585T>A (p.Cys195Ter)	IFNGR1 (C154* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2428106	NM_000416.3(IFNGR1):c.586G>A (p.Asp196Asn)	IFNGR1 (D155N +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2423046	NC_000006.11:g.(?_137519168)_(137528234_?)dup	IFNGR1	Duplication	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2336478	NM_000416.3(IFNGR1):c.319G>A (p.Gly107Arg)	IFNGR1 (G107R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319253	NM_000416.3(IFNGR1):c.791T>C (p.Val264Ala)	IFNGR1 (V223A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2282328	NM_000416.3(IFNGR1):c.760G>A (p.Ala254Thr)	IFNGR1 (A254T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267200	NM_000416.3(IFNGR1):c.773T>C (p.Phe258Ser)	IFNGR1 (F248S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202404	NM_000416.3(IFNGR1):c.861+17T>A	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2200107	NM_000416.3(IFNGR1):c.1190A>G (p.Tyr397Cys)	IFNGR1 (Y397C +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2187572	NM_000416.3(IFNGR1):c.1119A>G (p.Pro373=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2180600	NM_000416.3(IFNGR1):c.608C>T (p.Ala203Val)	IFNGR1 (A193V +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2169059	NM_000416.3(IFNGR1):c.724A>G (p.Ser242Gly)	IFNGR1 (S201G +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2164331	NM_000416.3(IFNGR1):c.520G>T (p.Val174Leu)	IFNGR1 (V164L +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2163725	NM_000416.3(IFNGR1):c.518A>G (p.Asn173Ser)	IFNGR1 (N132S +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2155561	NM_000416.3(IFNGR1):c.1048T>C (p.Ser350Pro)	IFNGR1 (S340P +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2146744	NM_000416.3(IFNGR1):c.988A>G (p.Thr330Ala)	IFNGR1 (T320A +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2143250	NM_000416.3(IFNGR1):c.85+5C>G	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2134696	NM_000416.3(IFNGR1):c.674G>T (p.Gly225Val)	IFNGR1 (G184V +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2131419	NM_000416.3(IFNGR1):c.1277C>T (p.Ser426Phe)	IFNGR1 (S385F +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2111287	NM_000416.3(IFNGR1):c.1300A>G (p.Asn434Asp)	IFNGR1 (N434D +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2103703	NM_000416.3(IFNGR1):c.1367G>A (p.Gly456Asp)	IFNGR1 (G456D +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2098990	NM_000416.3(IFNGR1):c.733+11G>A	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 2097601	NM_000416.3(IFNGR1):c.982C>T (p.Pro328Ser)	IFNGR1 (P318S +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2082584	NM_000416.3(IFNGR1):c.641_642delinsCC (p.Cys214Ser)	IFNGR1 (C173S +2 more)	Indel (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2082580	NM_000416.3(IFNGR1):c.643_644del (p.Val215fs)	IFNGR1 (V205fs +2 more)	Microsatellite (frameshift variant)	Disseminated atypical mycobacterial infection	GPathogenic

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