ClinVar for MedGen (Select 860386) - ClinVar

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Items: 86

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9925631.	NM_000416.3(IFNGR1):c.974C>T (p.Pro325Leu) GRCh37: Chr6:137519664 GRCh38: Chr6:137198527	IFNGR1	P284L, P315L, P325L	Immunodeficiency 27A, Mycobacterium tuberculosis, susceptibility to, Helicobacter pylori infection, susceptibility to, Hepatitis B virus, susceptibility to, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 9514842.	NM_000416.3(IFNGR1):c.841A>G (p.Ile281Val) GRCh37: Chr6:137522038 GRCh38: Chr6:137200901	IFNGR1	I240V, I271V, I281V	Immunodeficiency 27A	Uncertain significance (May 6, 2019)	criteria provided, single submitter
Select item 9077223.	NM_000416.3(IFNGR1):c.180C>T (p.Thr60=) GRCh37: Chr6:137528120 GRCh38: Chr6:137206983	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9076554.	NM_000416.3(IFNGR1):c.1120A>G (p.Ile374Val) GRCh37: Chr6:137519518 GRCh38: Chr6:137198381	IFNGR1	I364V, I374V, I333V	Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9076545.	NM_000416.3(IFNGR1):c.1187C>T (p.Ser396Leu) GRCh37: Chr6:137519451 GRCh38: Chr6:137198314	IFNGR1	S386L, S396L, S355L	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9076536.	NM_000416.3(IFNGR1):c.1252T>C (p.Cys418Arg) GRCh37: Chr6:137519386 GRCh38: Chr6:137198249	IFNGR1	C418R, C377R, C408R	Immunodeficiency 27A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9076527.	NM_000416.3(IFNGR1):c.*41G>A GRCh37: Chr6:137519127 GRCh38: Chr6:137197990	IFNGR1		Immunodeficiency 27A	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 9067048.	NM_000416.3(IFNGR1):c.231C>T (p.Cys77=) GRCh37: Chr6:137527415 GRCh38: Chr6:137206278	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9067039.	NM_000416.3(IFNGR1):c.423C>G (p.Ile141Met) GRCh37: Chr6:137525592 GRCh38: Chr6:137204455	IFNGR1	I131M, I141M, I100M	Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90670210.	NM_000416.3(IFNGR1):c.478G>A (p.Asp160Asn) GRCh37: Chr6:137525537 GRCh38: Chr6:137204400	IFNGR1	D119N, D160N, D150N	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Uncertain significance (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90663111.	NM_000416.3(IFNGR1):c.*244T>C GRCh37: Chr6:137518924 GRCh38: Chr6:137197787	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90663012.	NM_000416.3(IFNGR1):c.*258C>T GRCh37: Chr6:137518910 GRCh38: Chr6:137197773	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90662913.	NM_000416.3(IFNGR1):c.*462A>C GRCh37: Chr6:137518706 GRCh38: Chr6:137197569	IFNGR1		Immunodeficiency 27A	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90512414.	NM_000416.3(IFNGR1):c.643G>A (p.Val215Ile) GRCh37: Chr6:137524726 GRCh38: Chr6:137203589	IFNGR1	V205I, V174I, V215I	Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90504615.	NM_000416.3(IFNGR1):c.*475G>A GRCh37: Chr6:137518693 GRCh38: Chr6:137197556	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90504516.	NM_000416.3(IFNGR1):c.*487G>A GRCh37: Chr6:137518681 GRCh38: Chr6:137197544	IFNGR1		Immunodeficiency 27A	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90504417.	NM_000416.2(IFNGR1):c.*547G>A GRCh37: Chr6:137518621 GRCh38: Chr6:137197484	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90439118.	NM_000416.3(IFNGR1):c.-57G>A GRCh37: Chr6:137540521 GRCh38: Chr6:137219384	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90439019.	NM_000416.3(IFNGR1):c.-52G>T GRCh37: Chr6:137540516 GRCh38: Chr6:137219379	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90438920.	NM_000416.3(IFNGR1):c.-21C>T GRCh37: Chr6:137540485 GRCh38: Chr6:137219348	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90432421.	NM_000416.3(IFNGR1):c.729A>G (p.Ile243Met) GRCh37: Chr6:137524640 GRCh38: Chr6:137203503	IFNGR1	I202M, I243M, I233M	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Uncertain significance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90432322.	NM_000416.3(IFNGR1):c.790G>A (p.Val264Ile) GRCh37: Chr6:137522089 GRCh38: Chr6:137200952	IFNGR1	V264I, V223I, V254I	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83065723.	NC_000006.11:g.(?_136482728)_(137540520_?)del GRCh37: Chr6:136482728-137540520	MTFR2, PDE7B, PEX7, BCLAF1, IFNGR1, IL20RA, IL22RA2, MAP3K5, MAP7, SLC35D3		Immunodeficiency 27A	Pathogenic (Dec 23, 2019)	criteria provided, single submitter
Select item 83006524.	NM_000416.3(IFNGR1):c.476del (p.Val159fs) GRCh37: Chr6:137525539 GRCh38: Chr6:137204402	IFNGR1	V118fs, V149fs, V159fs	Immunodeficiency 27A	Pathogenic (May 10, 2019)	criteria provided, single submitter
Select item 83006425.	NM_000416.3(IFNGR1):c.295T>C (p.Trp99Arg) GRCh37: Chr6:137527351 GRCh38: Chr6:137206214	IFNGR1	W89R, W58R, W99R	Immunodeficiency 27A	Likely pathogenic (May 10, 2019)	criteria provided, single submitter
Select item 80227726.	NM_000416.3(IFNGR1):c.86-1_93del GRCh37: Chr6:137528207-137528215 GRCh38: Chr6:137207070-137207078	IFNGR1		Immunodeficiency 27A	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80227627.	NM_000416.3(IFNGR1):c.547-48_547-45del GRCh37: Chr6:137524867-137524870 GRCh38: Chr6:137203730-137203733	IFNGR1		Immunodeficiency 27A	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 80227528.	NM_000416.3(IFNGR1):c.547-42A>T GRCh37: Chr6:137524864 GRCh38: Chr6:137203727	IFNGR1		Immunodeficiency 27A	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 72375829.	NM_000416.3(IFNGR1):c.40G>A (p.Val14Met) GRCh37: Chr6:137540425 GRCh38: Chr6:137219288	IFNGR1	V14M	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 66176130.	NM_000416.3(IFNGR1):c.664C>T (p.His222Tyr) GRCh37: Chr6:137524705 GRCh38: Chr6:137203568	IFNGR1	H181Y, H212Y, H222Y	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64452731.	NM_000416.3(IFNGR1):c.566C>A (p.Thr189Lys) GRCh37: Chr6:137524803 GRCh38: Chr6:137203666	IFNGR1	T148K, T189K, T179K	Disseminated atypical mycobacterial infection, Immunodeficiency 27A, Helicobacter pylori infection, susceptibility to, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Mycobacterium tuberculosis, susceptibility to, Hepatitis B virus, susceptibility to, Immunodeficiency 27A, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Uncertain significance (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64210532.	NM_000416.3(IFNGR1):c.589G>A (p.Glu197Lys) GRCh37: Chr6:137524780 GRCh38: Chr6:137203643	IFNGR1	E156K, E187K, E197K	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 64187433.	NM_000416.3(IFNGR1):c.297G>T (p.Trp99Cys) GRCh37: Chr6:137527349 GRCh38: Chr6:137206212	IFNGR1	W89C, W58C, W99C	Immunodeficiency 27A	Uncertain significance (Oct 31, 2018)	criteria provided, single submitter
Select item 63286134.	NM_000416.3(IFNGR1):c.200+15T>G GRCh37: Chr6:137528085 GRCh38: Chr6:137206948	IFNGR1		Immunodeficiency 27A, not specified, Disseminated atypical mycobacterial infection	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63247535.	NM_000416.3(IFNGR1):c.655G>A (p.Gly219Arg) GRCh37: Chr6:137524714 GRCh38: Chr6:137203577	IFNGR1	G219R, G178R, G209R	Immunodeficiency 27A	Uncertain significance (Oct 22, 2018)	criteria provided, single submitter
Select item 62596136.	NM_000416.3(IFNGR1):c.665A>G (p.His222Arg) GRCh37: Chr6:137524704 GRCh38: Chr6:137203567	IFNGR1	H222R, H181R, H212R	Disseminated atypical mycobacterial infection, Immunodeficiency 27A, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Immunodeficiency 27A, Hepatitis B virus, susceptibility to, Mycobacterium tuberculosis, susceptibility to, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Helicobacter pylori infection, susceptibility to	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57978637.	NM_000416.3(IFNGR1):c.694A>G (p.Lys232Glu) GRCh37: Chr6:137524675 GRCh38: Chr6:137203538	IFNGR1	K232E, K191E, K222E	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Uncertain significance (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56923038.	NM_000416.3(IFNGR1):c.236A>G (p.Asn79Ser) GRCh37: Chr6:137527410 GRCh38: Chr6:137206273	IFNGR1	N79S, N38S, N69S	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53167539.	NM_000416.3(IFNGR1):c.181G>A (p.Val61Ile) GRCh37: Chr6:137528119 GRCh38: Chr6:137206982	IFNGR1	V61I, V20I, V51I	Immunodeficiency 27A, Disseminated atypical mycobacterial infection	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53167240.	NM_000416.3(IFNGR1):c.609G>A (p.Ala203=) GRCh37: Chr6:137524760 GRCh38: Chr6:137203623	IFNGR1		Immunodeficiency 27A, Disseminated atypical mycobacterial infection	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 53167141.	NM_000416.3(IFNGR1):c.1341C>T (p.Thr447=) GRCh37: Chr6:137519297 GRCh38: Chr6:137198160	IFNGR1		Immunodeficiency 27A, Disseminated atypical mycobacterial infection, not specified	Conflicting interpretations of pathogenicity (Apr 19, 2023)	criteria provided, conflicting interpretations
Select item 52225742.	NM_005535.3(IL12RB1):c.1719C>T (p.Ala573=) GRCh37: Chr19:18172004 GRCh38: Chr19:18061194	IL12RB1		Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Immunodeficiency 27A	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52218043.	NM_005534.4(IFNGR2):c.595T>C (p.Leu199=) GRCh37: Chr21:34804517 GRCh38: Chr21:33432210	IFNGR2		Immunodeficiency 28, Immunodeficiency 27A	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35556644.	NM_000416.2(IFNGR1):c.-72C>T GRCh37: Chr6:137540536 GRCh38: Chr6:137219399	IFNGR1		Immunodeficiency 27A	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35556545.	NM_000416.3(IFNGR1):c.-56T>C GRCh37: Chr6:137540520 GRCh38: Chr6:137219383	IFNGR1		Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35556446.	NM_000416.3(IFNGR1):c.48G>A (p.Arg16=) GRCh37: Chr6:137540417 GRCh38: Chr6:137219280	IFNGR1		Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35556347.	NM_000416.3(IFNGR1):c.84A>G (p.Ser28=) GRCh37: Chr6:137540381 GRCh38: Chr6:137219244	IFNGR1		Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35556248.	NM_000416.3(IFNGR1):c.85+10T>C GRCh37: Chr6:137540370 GRCh38: Chr6:137219233	IFNGR1		not specified, Disseminated atypical mycobacterial infection, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Immunodeficiency 27A	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35556149.	NM_000416.3(IFNGR1):c.368G>A (p.Arg123Gln) GRCh37: Chr6:137527278 GRCh38: Chr6:137206141	IFNGR1	R123Q, R82Q, R113Q	Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35556050.	NM_000416.3(IFNGR1):c.490G>A (p.Glu164Lys) GRCh37: Chr6:137525525 GRCh38: Chr6:137204388	IFNGR1	E164K, E123K, E154K	Disseminated atypical mycobacterial infection, Immunodeficiency 27A, Inborn genetic diseases	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35555951.	NM_000416.3(IFNGR1):c.522G>A (p.Val174=) GRCh37: Chr6:137525493 GRCh38: Chr6:137204356	IFNGR1		Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35555852.	NM_000416.3(IFNGR1):c.588C>T (p.Asp196=) GRCh37: Chr6:137524781 GRCh38: Chr6:137203644	IFNGR1		Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 35555753.	NM_000416.3(IFNGR1):c.596A>G (p.Gln199Arg) GRCh37: Chr6:137524773 GRCh38: Chr6:137203636	IFNGR1	Q199R, Q189R, Q158R	Immunodeficiency 27A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35555654.	NM_000416.3(IFNGR1):c.711C>T (p.Thr237=) GRCh37: Chr6:137524658 GRCh38: Chr6:137203521	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35555555.	NM_000416.3(IFNGR1):c.862-4A>G GRCh37: Chr6:137519780 GRCh38: Chr6:137198643	IFNGR1		not specified, Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35555456.	NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=) GRCh37: Chr6:137519588 GRCh38: Chr6:137198451	IFNGR1		not specified, Immunodeficiency 27A, Disseminated atypical mycobacterial infection	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35555357.	NM_000416.3(IFNGR1):c.1101G>A (p.Pro367=) GRCh37: Chr6:137519537 GRCh38: Chr6:137198400	IFNGR1		Immunodeficiency 27A, Disseminated atypical mycobacterial infection	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35555258.	NM_000416.3(IFNGR1):c.1400T>C (p.Leu467Pro) GRCh37: Chr6:137519238 GRCh38: Chr6:137198101	IFNGR1	L467P, L457P, L426P	Immunodeficiency 27A, Disseminated atypical mycobacterial infection	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35555159.	NM_000416.3(IFNGR1):c.*71G>T GRCh37: Chr6:137519097 GRCh38: Chr6:137197960	IFNGR1		Immunodeficiency 27A	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35555060.	NM_000416.3(IFNGR1):c.*128G>T GRCh37: Chr6:137519040 GRCh38: Chr6:137197903	IFNGR1		Immunodeficiency 27A	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35554961.	NM_000416.3(IFNGR1):c.*206A>G GRCh37: Chr6:137518962 GRCh38: Chr6:137197825	IFNGR1		Immunodeficiency 27A	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35554862.	NM_000416.3(IFNGR1):c.*217T>A GRCh37: Chr6:137518951 GRCh38: Chr6:137197814	IFNGR1		Immunodeficiency 27A	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35554763.	NM_000416.3(IFNGR1):c.*297G>A GRCh37: Chr6:137518871 GRCh38: Chr6:137197734	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35554664.	NM_000416.3(IFNGR1):c.*466A>G GRCh37: Chr6:137518702 GRCh38: Chr6:137197565	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32859865.	NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) GRCh37: Chr19:18188408 GRCh38: Chr19:18077598	IL12RB1	R156H, R196H	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, not specified, Immunodeficiency 27A	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32859766.	NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) GRCh37: Chr19:18186618 GRCh38: Chr19:18075808	IL12RB1	Q214R, Q254R	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, not specified, Immunodeficiency 27A	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32859167.	NM_005535.3(IL12RB1):c.783+10C>T GRCh37: Chr19:18184317 GRCh38: Chr19:18073507	IL12RB1		Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Immunodeficiency 27A	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20858868.	NM_000416.3(IFNGR1):c.523del (p.Tyr175fs) GRCh37: Chr6:137525492 GRCh38: Chr6:137204355	IFNGR1	Y134fs, Y165fs, Y175fs	Disseminated atypical mycobacterial infection, Immunodeficiency 27A, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Inherited Immunodeficiency Diseases, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 11124669.	NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu) GRCh37: Chr21:34799244 GRCh38: Chr21:33426937	IFNGR2	I156L, I175L	Immunodeficiency 28, not provided, Immunodeficiency 27A	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11121370.	NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg) GRCh37: Chr6:137525477 GRCh38: Chr6:137204340	IFNGR1	G180R, G139R, G170R	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11120871.	NM_000416.3(IFNGR1):c.1034A>G (p.His345Arg) GRCh37: Chr6:137519604 GRCh38: Chr6:137198467	IFNGR1	H345R, H304R, H335R	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11120572.	NM_000416.3(IFNGR1):c.*450C>T GRCh37: Chr6:137518718 GRCh38: Chr6:137197581	IFNGR1		Immunodeficiency 27A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3637573.	NM_000416.3(IFNGR1):c.489C>T (p.Pro163=) GRCh37: Chr6:137525526 GRCh38: Chr6:137204389	IFNGR1		Disseminated atypical mycobacterial infection, not provided, Interferon gamma receptor deficiency, Immunodeficiency 27A	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3637474.	NM_000416.3(IFNGR1):c.42G>A (p.Val14=) GRCh37: Chr6:137540423 GRCh38: Chr6:137219286	IFNGR1		Disseminated atypical mycobacterial infection, Interferon gamma receptor deficiency, Immunodeficiency 27A	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3637175.	NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro) GRCh37: Chr6:137519634 GRCh38: Chr6:137198497	IFNGR1	H335P, H325P, H294P	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Mycobacterium tuberculosis, susceptibility to, Immunodeficiency 27A, Hepatitis B virus, susceptibility to, Helicobacter pylori infection, susceptibility to, Disseminated atypical mycobacterial infection, not provided, Interferon gamma receptor deficiency, Immunodeficiency 27A	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2960776.	NM_000416.3(IFNGR1):c.2T>A (p.Met1Lys) GRCh37: Chr6:137540463 GRCh38: Chr6:137219326	IFNGR1	M1K	Immunodeficiency 27A	Pathogenic (Feb 1, 2010)	no assertion criteria provided
Select item 1795177.	NM_000416.3(IFNGR1):c.653_655del (p.Glu218del) GRCh37: Chr6:137524714-137524716 GRCh38: Chr6:137203577-137203579	IFNGR1	E218del, E208del, E177del	Disseminated atypical mycobacterial infection, Immunodeficiency 27A	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1795078.	NM_000416.3(IFNGR1):c.182T>A (p.Val61Glu) GRCh37: Chr6:137528118 GRCh38: Chr6:137206981	IFNGR1	V61E, V51E, V20E	Immunodeficiency 27A	Pathogenic (May 1, 2000)	no assertion criteria provided
Select item 1794979.	NM_000416.3(IFNGR1):c.230G>A (p.Cys77Tyr) GRCh37: Chr6:137527416 GRCh38: Chr6:137206279	IFNGR1	C77Y, C67Y, C36Y	Immunodeficiency 27A	Pathogenic (May 1, 2000)	no assertion criteria provided
Select item 1794880.	NM_000416.3(IFNGR1):c.295_306del (p.Trp99_Val102del) GRCh37: Chr6:137527340-137527351 GRCh38: Chr6:137206203-137206214	IFNGR1		Immunodeficiency 27A	Pathogenic (May 1, 2000)	no assertion criteria provided
Select item 1794781.	NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs) GRCh37: Chr6:137522057-137522060 GRCh38: Chr6:137200920-137200923	IFNGR1	N233fs, N264fs, N274fs	Disseminated atypical mycobacterial infection, IFN-gamma receptor 1 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Mycobacterium tuberculosis, susceptibility to, Immunodeficiency 27A, Hepatitis B virus, susceptibility to, Helicobacter pylori infection, susceptibility to, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, not provided	Pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1794682.	NM_000416.3(IFNGR1):c.200+1G>A GRCh37: Chr6:137528099 GRCh38: Chr6:137206962	IFNGR1		Immunodeficiency 27A	Pathogenic (Mar 1, 1998)	no assertion criteria provided
Select item 1794583.	NM_000416.3(IFNGR1):c.104_107dup (p.Ile37fs) GRCh37: Chr6:137528192-137528193 GRCh38: Chr6:137207055-137207056	IFNGR1	I37fs, I27fs	Immunodeficiency 27A	Pathogenic (Mar 1, 1998)	no assertion criteria provided
Select item 1794484.	NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr) GRCh37: Chr6:137527386 GRCh38: Chr6:137206249	IFNGR1	I87T, I46T, I77T	Disseminated atypical mycobacterial infection, not provided, Immunodeficiency 27A	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1794385.	NM_000416.3(IFNGR1):c.131del (p.Pro44fs) GRCh37: Chr6:137528169 GRCh38: Chr6:137207032	IFNGR1	P34fs, P44fs, P3fs	Immunodeficiency 27A	Pathogenic (Dec 26, 1996)	no assertion criteria provided
Select item 1794286.	NM_000416.3(IFNGR1):c.446C>A (p.Ser149Ter) GRCh37: Chr6:137525569 GRCh38: Chr6:137204432	IFNGR1	S149, S139, S108*	Immunodeficiency 27A	Pathogenic (Dec 26, 1996)	no assertion criteria provided

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Items: 86