ClinVar for MedGen (Select 860386) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585538	NM_000416.3(IFNGR1):c.85+1G>T	IFNGR1	Single nucleotide variant (splice donor variant)	Immunodeficiency 27A	GLikely pathogenic
Select item 992563	NM_000416.3(IFNGR1):c.974C>T (p.Pro325Leu)	IFNGR1 (P284L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +4 more	GUncertain significance
Select item 951484	NM_000416.3(IFNGR1):c.841A>G (p.Ile281Val)	IFNGR1 (I240V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	GUncertain significance
Select item 907722	NM_000416.3(IFNGR1):c.180C>T (p.Thr60=)	IFNGR1	Single nucleotide variant (synonymous variant)	Immunodeficiency 27A	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 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 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 907652	NM_000416.3(IFNGR1):c.*41G>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GBenign
Select item 906704	NM_000416.3(IFNGR1):c.231C>T (p.Cys77=)	IFNGR1	Single nucleotide variant (synonymous variant)	Immunodeficiency 27A	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 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 906631	NM_000416.3(IFNGR1):c.*244T>C	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 906629	NM_000416.3(IFNGR1):c.*462A>C	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GLikely benign
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 905046	NM_000416.3(IFNGR1):c.*475G>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 905044	NM_000416.2(IFNGR1):c.*547G>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 904391	NM_000416.3(IFNGR1):c.-57G>A	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 904389	NM_000416.3(IFNGR1):c.-21C>T	IFNGR1	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 27A	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 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 830657	NC_000006.11:g.(?_136482728)_(137540520_?)del	MTFR2, PDE7B +8 more	Deletion	Immunodeficiency 27A	GPathogenic
Select item 830065	NM_000416.3(IFNGR1):c.476del (p.Val159fs)	IFNGR1 (V118fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 27A	GPathogenic
Select item 830064	NM_000416.3(IFNGR1):c.295T>C (p.Trp99Arg)	IFNGR1 (W89R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	GLikely pathogenic
Select item 802277	NM_000416.3(IFNGR1):c.86-1_93del	IFNGR1	Deletion (splice acceptor variant)	Immunodeficiency 27A	GPathogenic
Select item 802276	NM_000416.3(IFNGR1):c.547-48_547-45del	IFNGR1	Deletion (intron variant)	Immunodeficiency 27A	GUncertain significance
Select item 802275	NM_000416.3(IFNGR1):c.547-42A>T	IFNGR1	Single nucleotide variant (intron variant)	Immunodeficiency 27A	GLikely pathogenic
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 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 644527	NM_000416.3(IFNGR1):c.566C>A (p.Thr189Lys)	IFNGR1 (T148K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +5 more	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 641874	NM_000416.3(IFNGR1):c.297G>T (p.Trp99Cys)	IFNGR1 (W89C +2 more)	Single nucleotide variant (missense 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 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 625961	NM_000416.3(IFNGR1):c.665A>G (p.His222Arg)	IFNGR1 (H222R +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency +5 more	GUncertain significance
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 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 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 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 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 522257	NM_005535.3(IL12RB1):c.1719C>T (p.Ala573=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +2 more	GBenign/Likely benign
Select item 522180	NM_005534.4(IFNGR2):c.595T>C (p.Leu199=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28 +1 more	GLikely benign
Select item 355566	NM_000416.2(IFNGR1):c.-72C>T	IFNGR1	Single nucleotide variant	Immunodeficiency 27A	GBenign
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 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 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 355562	NM_000416.3(IFNGR1):c.85+10T>C	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection +3 more	GBenign
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 355560	NM_000416.3(IFNGR1):c.490G>A (p.Glu164Lys)	IFNGR1 (E164K +2 more)	Single nucleotide variant (missense variant)	IFNGR1-related condition +3 more	GUncertain significance
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 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 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 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 355555	NM_000416.3(IFNGR1):c.862-4A>G	IFNGR1	Single nucleotide variant (intron variant)	Disseminated atypical mycobacterial infection +2 more	GBenign
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 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 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 355551	NM_000416.3(IFNGR1):c.*71G>T	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GLikely benign
Select item 355550	NM_000416.3(IFNGR1):c.*128G>T	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GLikely benign
Select item 355549	NM_000416.3(IFNGR1):c.*206A>G	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GBenign
Select item 355548	NM_000416.3(IFNGR1):c.*217T>A	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GBenign
Select item 355547	NM_000416.3(IFNGR1):c.*297G>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 328598	NM_005535.3(IL12RB1):c.467G>A (p.Arg156His)	IL12RB1 (R156H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +2 more	GBenign/Likely benign
Select item 328597	NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)	IL12RB1 (Q214R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +2 more	GBenign/Likely benign
Select item 328591	NM_005535.3(IL12RB1):c.783+10C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +2 more	GBenign/Likely benign
Select item 208588	NM_000416.3(IFNGR1):c.523del (p.Tyr175fs)	IFNGR1 (Y134fs +2 more)	Deletion (frameshift variant)	Disseminated atypical mycobacterial infection +4 more	GConflicting classifications of pathogenicity
Select item 111246	NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu)	IFNGR2 (I156L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28 +2 more	GBenign/Likely benign
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 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 111205	NM_000416.3(IFNGR1):c.*450C>T	IFNGR1	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 27A	GUncertain significance
Select item 36375	NM_000416.3(IFNGR1):c.489C>T (p.Pro163=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection +3 more	GBenign/Likely benign
Select item 36374	NM_000416.3(IFNGR1):c.42G>A (p.Val14=)	IFNGR1	Single nucleotide variant (synonymous variant)	Disseminated atypical mycobacterial infection +4 more	GBenign/Likely benign
Select item 36371	NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro)	IFNGR1 (H335P +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +7 more	GBenign/Likely benign
Select item 29607	NM_000416.3(IFNGR1):c.2T>A (p.Met1Lys)	IFNGR1 (M1K)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 27A	GPathogenic
Select item 17951	NM_000416.3(IFNGR1):c.653_655del (p.Glu218del)	IFNGR1 (E218del +2 more)	Deletion (inframe_deletion)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 17950	NM_000416.3(IFNGR1):c.182T>A (p.Val61Glu)	IFNGR1 (V61E +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	GPathogenic
Select item 17949	NM_000416.3(IFNGR1):c.230G>A (p.Cys77Tyr)	IFNGR1 (C77Y +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A	GPathogenic
Select item 17948	NM_000416.3(IFNGR1):c.295_306del (p.Trp99_Val102del)	IFNGR1	Deletion (inframe_deletion)	Immunodeficiency 27A	GPathogenic
Select item 17947	NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs)	IFNGR1 (N233fs +2 more)	Deletion (frameshift variant)	IFN-gamma receptor 1 deficiency +7 more	GPathogenic
Select item 17946	NM_000416.3(IFNGR1):c.200+1G>A	IFNGR1	Single nucleotide variant (splice donor variant)	Immunodeficiency 27A	GPathogenic
Select item 17945	NM_000416.3(IFNGR1):c.104_107dup (p.Ile37fs)	IFNGR1 (I37fs +1 more)	Duplication (frameshift variant +1 more)	Immunodeficiency 27A	GPathogenic
Select item 17944	NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)	IFNGR1 (I87T +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +2 more	GPathogenic/Likely pathogenic
Select item 17943	NM_000416.3(IFNGR1):c.131del (p.Pro44fs)	IFNGR1 (P34fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 27A	GPathogenic
Select item 17942	NM_000416.3(IFNGR1):c.446C>A (p.Ser149Ter)	IFNGR1 (S149* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency 27A	GPathogenic

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Items: 87