"Illumina Laboratory Services, Illumina"[submitter] AND "IFNGR1"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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	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 355552	NM_000416.3(IFNGR1):c.1400T>C (p.Leu467Pro)	IFNGR1 (L467P +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GBenign
Select item 531671	NM_000416.3(IFNGR1):c.1341C>T (p.Thr447=)	IFNGR1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 907654	NM_000416.3(IFNGR1):c.1187C>T (p.Ser396Leu)	IFNGR1 (S386L +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	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 355553	NM_000416.3(IFNGR1):c.1101G>A (p.Pro367=)	IFNGR1	Single nucleotide variant (synonymous variant)	Immunodeficiency 27A +3 more	GBenign/Likely benign
Select item 355554	NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection +2 more	GBenign
Select item 111208	NM_000416.3(IFNGR1):c.1034A>G (p.His345Arg)	IFNGR1 (H345R +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 36371	NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro)	IFNGR1 (H335P +2 more)	Single nucleotide variant (missense variant)	Interferon gamma receptor deficiency +7 more	GBenign/Likely benign
Select item 355555	NM_000416.3(IFNGR1):c.862-4A>G	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection +2 more	GBenign
Select item 904323	NM_000416.3(IFNGR1):c.790G>A (p.Val264Ile)	IFNGR1 (V264I +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +1 more	GUncertain significance
Select item 904324	NM_000416.3(IFNGR1):c.729A>G (p.Ile243Met)	IFNGR1 (I202M +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +1 more	GUncertain significance
Select item 355556	NM_000416.3(IFNGR1):c.711C>T (p.Thr237=)	IFNGR1	Single nucleotide variant (synonymous variant)	Immunodeficiency 27A +1 more	GConflicting classifications of pathogenicity
Select item 579786	NM_000416.3(IFNGR1):c.694A>G (p.Lys232Glu)	IFNGR1 (K232E +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +1 more	GUncertain significance
Select item 661761	NM_000416.3(IFNGR1):c.664C>T (p.His222Tyr)	IFNGR1 (H181Y +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 632475	NM_000416.3(IFNGR1):c.655G>A (p.Gly219Arg)	IFNGR1 (G219R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	GUncertain significance
Select item 905124	NM_000416.3(IFNGR1):c.643G>A (p.Val215Ile)	IFNGR1 (V205I +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	GUncertain significance
Select item 531672	NM_000416.3(IFNGR1):c.609G>A (p.Ala203=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection +1 more	GConflicting classifications of pathogenicity
Select item 355557	NM_000416.3(IFNGR1):c.596A>G (p.Gln199Arg)	IFNGR1 (Q199R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	GUncertain significance
Select item 642105	NM_000416.3(IFNGR1):c.589G>A (p.Glu197Lys)	IFNGR1 (E156K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +1 more	GConflicting classifications of pathogenicity
Select item 355558	NM_000416.3(IFNGR1):c.588C>T (p.Asp196=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection +1 more	GConflicting classifications of pathogenicity
Select item 111213	NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg)	IFNGR1 (G180R +2 more)	Single nucleotide variant (missense variant)	IFNGR1-related condition +3 more	GBenign/Likely benign
Select item 355559	NM_000416.3(IFNGR1):c.522G>A (p.Val174=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection +1 more	GBenign
Select item 355560	NM_000416.3(IFNGR1):c.490G>A (p.Glu164Lys)	IFNGR1 (E164K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +3 more	GUncertain significance
Select item 36375	NM_000416.3(IFNGR1):c.489C>T (p.Pro163=)	IFNGR1	Single nucleotide variant (synonymous variant)	Interferon gamma receptor deficiency +3 more	GBenign/Likely benign
Select item 906702	NM_000416.3(IFNGR1):c.478G>A (p.Asp160Asn)	IFNGR1 (D119N +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 906703	NM_000416.3(IFNGR1):c.423C>G (p.Ile141Met)	IFNGR1 (I131M +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	GUncertain significance
Select item 355561	NM_000416.3(IFNGR1):c.368G>A (p.Arg123Gln)	IFNGR1 (R123Q +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	GUncertain significance
Select item 569230	NM_000416.3(IFNGR1):c.236A>G (p.Asn79Ser)	IFNGR1 (N79S +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 906704	NM_000416.3(IFNGR1):c.231C>T (p.Cys77=)	IFNGR1	Single nucleotide variant (synonymous variant)	Immunodeficiency 27A	GUncertain significance
Select item 632861	NM_000416.3(IFNGR1):c.200+15T>G	IFNGR1	Single nucleotide variant (intron variant)	Immunodeficiency 27A +2 more	GBenign/Likely benign
Select item 531675	NM_000416.3(IFNGR1):c.181G>A (p.Val61Ile)	IFNGR1 (V61I +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +2 more	GBenign/Likely benign
Select item 907722	NM_000416.3(IFNGR1):c.180C>T (p.Thr60=)	IFNGR1	Single nucleotide variant (synonymous variant)	Immunodeficiency 27A	GUncertain significance
Select item 355562	NM_000416.3(IFNGR1):c.85+10T>C	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection +3 more	GBenign
Select item 355563	NM_000416.3(IFNGR1):c.84A>G (p.Ser28=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 355564	NM_000416.3(IFNGR1):c.48G>A (p.Arg16=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection +1 more	GBenign
Select item 36374	NM_000416.3(IFNGR1):c.42G>A (p.Val14=)	IFNGR1	Single nucleotide variant (synonymous variant)	Interferon gamma receptor deficiency +4 more	GBenign/Likely benign
Select item 723758	NM_000416.3(IFNGR1):c.40G>A (p.Val14Met)	IFNGR1 (V14M)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GConflicting classifications of pathogenicity
Select item 904389	NM_000416.3(IFNGR1):c.-21C>T	IFNGR1	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 904390	NM_000416.3(IFNGR1):c.-52G>T	IFNGR1	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 355565	NM_000416.3(IFNGR1):c.-56T>C	IFNGR1	Single nucleotide variant (5 prime UTR variant)	Disseminated atypical mycobacterial infection +2 more	GBenign
Select item 904391	NM_000416.3(IFNGR1):c.-57G>A	IFNGR1	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 355566	NM_000416.2(IFNGR1):c.-72C>T	IFNGR1	Single nucleotide variant	Immunodeficiency 27A	GBenign
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	ABRACL, AHI1 +32 more	Copy number loss	not provided	GPathogenic

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Items: 58