IFNGR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 149759	GRCh38/hg38 6q23.3(chr6:136630655-137791240)x4	IFNGR1, IL20RA +72 more	Copy number gain	See cases	GLikely benign
Select item 905044	NM_000416.2(IFNGR1):c.*547G>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 905045	NM_000416.3(IFNGR1):c.*487G>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 905046	NM_000416.3(IFNGR1):c.*475G>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 355546	NM_000416.3(IFNGR1):c.*466A>G	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 906629	NM_000416.3(IFNGR1):c.*462A>C	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GLikely benign
Select item 111205	NM_000416.3(IFNGR1):c.*450C>T	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 111204	NM_000416.3(IFNGR1):c.*313del	IFNGR1	Deletion (3 prime UTR variant)	not provided	Gnot provided
Select item 355547	NM_000416.3(IFNGR1):c.*297G>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 906630	NM_000416.3(IFNGR1):c.*258C>T	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 906631	NM_000416.3(IFNGR1):c.*244T>C	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 355548	NM_000416.3(IFNGR1):c.*217T>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GBenign
Select item 355549	NM_000416.3(IFNGR1):c.*206A>G	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GBenign
Select item 111203	NM_000416.3(IFNGR1):c.*140G>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 355550	NM_000416.3(IFNGR1):c.*128G>T	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GLikely benign
Select item 355551	NM_000416.3(IFNGR1):c.*71G>T	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A +1 more	GLikely benign
Select item 907652	NM_000416.3(IFNGR1):c.*41G>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GBenign
Select item 1410040	NM_000416.3(IFNGR1):c.1457A>G (p.Lys486Arg)	IFNGR1 (K486R +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1969214	NM_000416.3(IFNGR1):c.1454C>G (p.Ser485Cys)	IFNGR1 (S444C +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 582212	NM_000416.3(IFNGR1):c.1448A>G (p.Glu483Gly)	IFNGR1 (E483G +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
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 1041816	NM_000416.3(IFNGR1):c.1430T>C (p.Ile477Thr)	IFNGR1 (I477T +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1046199	NM_000416.3(IFNGR1):c.1414G>A (p.Gly472Ser)	IFNGR1 (G462S +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
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 1400688	NM_000416.3(IFNGR1):c.1403T>G (p.Val468Gly)	IFNGR1 (V427G +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 355552	NM_000416.3(IFNGR1):c.1400T>C (p.Leu467Pro)	IFNGR1 (L467P +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +1 more	GBenign
Select item 1114535	NM_000416.3(IFNGR1):c.1398A>G (p.Leu466=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 1082220	NM_000416.3(IFNGR1):c.1389A>C (p.Leu463=)	IFNGR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 790352	NM_000416.3(IFNGR1):c.1353C>A (p.Ala451=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 1483531	NM_000416.3(IFNGR1):c.1351G>A (p.Ala451Thr)	IFNGR1 (A451T +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1361548	NM_000416.3(IFNGR1):c.1346T>C (p.Ile449Thr)	IFNGR1 (I408T +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1393533	NM_000416.3(IFNGR1):c.1342G>A (p.Val448Ile)	IFNGR1 (V407I +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 531669	NM_000416.3(IFNGR1):c.1342G>T (p.Val448Leu)	IFNGR1 (V448L +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1589396	NM_000416.3(IFNGR1):c.1341C>G (p.Thr447=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 531671	NM_000416.3(IFNGR1):c.1341C>T (p.Thr447=)	IFNGR1	Single nucleotide variant (synonymous variant)	Immunodeficiency 27A +3 more	GConflicting classifications of pathogenicity
Select item 1428652	NM_000416.3(IFNGR1):c.1337T>A (p.Ile446Lys)	IFNGR1 (I405K +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1435112	NM_000416.3(IFNGR1):c.1321G>A (p.Glu441Lys)	IFNGR1 (E400K +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1123644	NM_000416.3(IFNGR1):c.1320A>G (p.Thr440=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 1057459	NM_000416.3(IFNGR1):c.1314A>G (p.Ile438Met)	IFNGR1 (I397M +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 495867	NM_000416.3(IFNGR1):c.1292C>T (p.Pro431Leu)	IFNGR1 (P431L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1447420	NM_000416.3(IFNGR1):c.1282T>C (p.Ser428Pro)	IFNGR1 (S418P +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 739492	NM_000416.3(IFNGR1):c.1272C>T (p.Ser424=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 111210	NM_000416.3(IFNGR1):c.1268G>A (p.Ser423Asn)	IFNGR1 (S423N +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1365850	NM_000416.3(IFNGR1):c.1265A>G (p.His422Arg)	IFNGR1 (H412R +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 2030732	NM_000416.3(IFNGR1):c.1260A>G (p.Glu420=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 907653	NM_000416.3(IFNGR1):c.1252T>C (p.Cys418Arg)	IFNGR1 (C418R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	GUncertain significance
Select item 1432554	NM_000416.3(IFNGR1):c.1249A>G (p.Ser417Gly)	IFNGR1 (S407G +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 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 531674	NM_000416.3(IFNGR1):c.1236T>C (p.Phe412=)	IFNGR1	Single nucleotide variant (synonymous 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 111209	NM_000416.3(IFNGR1):c.1204_1230dup (p.Cys402_Asn410dup)	IFNGR1	Duplication (inframe_insertion)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 1952608	NM_000416.3(IFNGR1):c.1229A>G (p.Asn410Ser)	IFNGR1 (N369S +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1721351	NM_000416.3(IFNGR1):c.1228A>C (p.Asn410His)	IFNGR1 (N369H +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1471147	NM_000416.3(IFNGR1):c.1220A>C (p.His407Pro)	IFNGR1 (H397P +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1432255	NM_000416.3(IFNGR1):c.1217A>G (p.Asp406Gly)	IFNGR1 (D365G +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1508959	NM_000416.3(IFNGR1):c.1214G>A (p.Ser405Asn)	IFNGR1 (S364N +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1375003	NM_000416.3(IFNGR1):c.1202A>G (p.Asn401Ser)	IFNGR1 (N360S +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1426104	NM_000416.3(IFNGR1):c.1199G>A (p.Arg400Lys)	IFNGR1 (R359K +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1565594	NM_000416.3(IFNGR1):c.1197C>T (p.Ser399=)	IFNGR1	Single nucleotide variant (synonymous 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 1902603	NM_000416.3(IFNGR1):c.1188G>A (p.Ser396=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 907654	NM_000416.3(IFNGR1):c.1187C>T (p.Ser396Leu)	IFNGR1 (S386L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +1 more	GUncertain significance
Select item 796354	NM_000416.3(IFNGR1):c.1176C>T (p.Ile392=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 569641	NM_000416.3(IFNGR1):c.1160C>T (p.Ser387Phe)	IFNGR1 (S387F +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 945730	NM_000416.3(IFNGR1):c.1155C>G (p.Asn385Lys)	IFNGR1 (N375K +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 731999	NM_000416.3(IFNGR1):c.1155C>T (p.Asn385=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 966771	NM_000416.3(IFNGR1):c.1141C>A (p.Pro381Thr)	IFNGR1 (P340T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2046689	NM_000416.3(IFNGR1):c.1129G>C (p.Glu377Gln)	IFNGR1 (E367Q +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 907655	NM_000416.3(IFNGR1):c.1120A>G (p.Ile374Val)	IFNGR1 (I364V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	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 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 2876475	NM_000416.3(IFNGR1):c.1104C>A (p.Gly368=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 355553	NM_000416.3(IFNGR1):c.1101G>A (p.Pro367=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection +2 more	GBenign/Likely benign
Select item 1434357	NM_000416.3(IFNGR1):c.1100C>T (p.Pro367Leu)	IFNGR1 (P326L +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 1375992	NM_000416.3(IFNGR1):c.1093G>A (p.Val365Met)	IFNGR1 (V324M +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1110839	NM_000416.3(IFNGR1):c.1092C>T (p.Asp364=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection +1 more	GLikely benign
Select item 1442577	NM_000416.3(IFNGR1):c.1087C>T (p.Pro363Ser)	IFNGR1 (P322S +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 1401626	NM_000416.3(IFNGR1):c.1066G>A (p.Val356Met)	IFNGR1 (V346M +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 658801	NM_000416.3(IFNGR1):c.1056A>G (p.Ile352Met)	IFNGR1 (I342M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1960819	NM_000416.3(IFNGR1):c.1052G>C (p.Ser351Thr)	IFNGR1 (S310T +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 355554	NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=)	IFNGR1	Single nucleotide variant (synonymous variant)	Immunodeficiency 27A +2 more	GBenign
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 960443	NM_000416.3(IFNGR1):c.1043A>C (p.Glu348Ala)	IFNGR1 (E338A +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 1605486	NM_000416.3(IFNGR1):c.1038A>G (p.Thr346=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign
Select item 111208	NM_000416.3(IFNGR1):c.1034A>G (p.His345Arg)	IFNGR1 (H345R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +1 more	GUncertain significance
Select item 111207	NM_000416.3(IFNGR1):c.1027G>A (p.Val343Met)	IFNGR1 (V343M +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 838646	NM_000416.3(IFNGR1):c.1016A>G (p.Asn339Ser)	IFNGR1 (N298S +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 845969	NM_000416.3(IFNGR1):c.1009G>A (p.Glu337Lys)	IFNGR1 (E296K +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 760677	NM_000416.3(IFNGR1):c.1008C>T (p.Thr336=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection	GLikely benign

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