| NM_000416.3(IFNGR1):c.2T>A (p.Met1Lys) |
single nucleotide variant |
Immunodeficiency 27A [RCV000022447] |
Chr6:137219326 [GRCh38]
Chr6:137540463 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002228067]|Immunodeficiency 27A [RCV000530071]|Immunodeficiency 27A [RCV002482918]|Interferon gamma receptor deficiency [RCV000030040]|not provided [RCV002054495] |
Chr6:137198497 [GRCh38]
Chr6:137519634 [GRCh37]
Chr6:6q23.3 |
benign|likely benign |
| NM_000416.3(IFNGR1):c.200+18A>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002228068]|not specified [RCV000030041] |
Chr6:137206945 [GRCh38]
Chr6:137528082 [GRCh37]
Chr6:6q23.3 |
benign|uncertain significance |
| NM_000416.3(IFNGR1):c.201-1G>T |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001852595]|Interferon gamma receptor deficiency [RCV000030042] |
Chr6:137206309 [GRCh38]
Chr6:137527446 [GRCh37]
Chr6:6q23.3 |
likely pathogenic |
| NM_000416.3(IFNGR1):c.42G>A (p.Val14=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002228069]|IFNGR1-related disorder [RCV003914868]|Immunodeficiency 27A [RCV000542863]|Interferon gamma receptor deficiency [RCV000030043]|not provided [RCV003421936] |
Chr6:137219286 [GRCh38]
Chr6:137540423 [GRCh37]
Chr6:6q23.3 |
benign|likely benign|uncertain significance |
| NM_000416.3(IFNGR1):c.489C>T (p.Pro163=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002228070]|Immunodeficiency 27A [RCV000638150]|Interferon gamma receptor deficiency [RCV000030044]|not provided [RCV002262576] |
Chr6:137204389 [GRCh38]
Chr6:137525526 [GRCh37]
Chr6:6q23.3 |
benign|likely benign |
| NM_000416.3(IFNGR1):c.446C>A (p.Ser149Ter) |
single nucleotide variant |
Immunodeficiency 27A [RCV000019537] |
Chr6:137204432 [GRCh38]
Chr6:137525569 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.131del (p.Pro44fs) |
deletion |
Immunodeficiency 27A [RCV000019538] |
Chr6:137207032 [GRCh38]
Chr6:137528169 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001851953]|Immunodeficiency 27A [RCV000019539]|Mycobacterium tuberculosis, susceptibility to [RCV000144034]|not provided [RCV000788340] |
Chr6:137206249 [GRCh38]
Chr6:137527386 [GRCh37]
Chr6:6q23.3 |
pathogenic|likely pathogenic|risk factor |
| NM_000416.3(IFNGR1):c.104_107dup (p.Ile37fs) |
duplication |
Immunodeficiency 27A [RCV000019541] |
Chr6:137207055..137207056 [GRCh38]
Chr6:137528192..137528193 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.200+1G>A |
single nucleotide variant |
Immunodeficiency 27A [RCV000019542] |
Chr6:137206962 [GRCh38]
Chr6:137528099 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs) |
deletion |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency [RCV000019543]|Disseminated atypical mycobacterial infection [RCV002228042]|IFN-gamma receptor 1 deficiency [RCV000588728]|Immunodeficiency 27A [RCV002476992]|not provided [RCV000282204] |
Chr6:137200920..137200923 [GRCh38]
Chr6:137522057..137522060 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.295_306del (p.Trp99_Val102del) |
deletion |
Immunodeficiency 27A [RCV000019544] |
Chr6:137206203..137206214 [GRCh38]
Chr6:137527340..137527351 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.230G>A (p.Cys77Tyr) |
single nucleotide variant |
Immunodeficiency 27A [RCV000019545] |
Chr6:137206279 [GRCh38]
Chr6:137527416 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.182T>A (p.Val61Glu) |
single nucleotide variant |
Immunodeficiency 27A [RCV000019546] |
Chr6:137206981 [GRCh38]
Chr6:137528118 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.653_655del (p.Glu218del) |
deletion |
Disseminated atypical mycobacterial infection [RCV002228043]|Immunodeficiency 27A [RCV000019547] |
Chr6:137203577..137203579 [GRCh38]
Chr6:137524714..137524716 [GRCh37]
Chr6:6q23.3 |
pathogenic|uncertain significance |
| NM_000416.3(IFNGR1):c.819del (p.Asn274fs) |
deletion |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency [RCV000019548] |
Chr6:137200923 [GRCh38]
Chr6:137522060 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| IFNGR1, -56C-T |
single nucleotide variant |
Helicobacter pylori infection, susceptibility to [RCV000019549]|Hepatitis b virus, susceptibility to [RCV000019551]|Mycobacterium tuberculosis, protection against [RCV000019550] |
Chr6:6q23-q24 |
risk factor|protective |
| NM_000416.3(IFNGR1):c.794del (p.Phe265fs) |
deletion |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency [RCV000019552] |
Chr6:137200948 [GRCh38]
Chr6:137522085 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.100A>G (p.Asn34Asp) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002231721]|Inborn genetic diseases [RCV002527765] |
Chr6:137207063 [GRCh38]
Chr6:137528200 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.*140G>A |
single nucleotide variant |
not provided [RCV000097405] |
Chr6:137197891 [GRCh38]
Chr6:137519028 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.*313del |
deletion |
not provided [RCV000097406] |
Chr6:137197718 [GRCh38]
Chr6:137518855 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.*450C>T |
single nucleotide variant |
Immunodeficiency 27A [RCV000342755]|not provided [RCV000097407] |
Chr6:137197581 [GRCh38]
Chr6:137518718 [GRCh37]
Chr6:6q23.3 |
uncertain significance|not provided |
| NM_000416.2(IFNGR1):c.-255C>T |
single nucleotide variant |
not provided [RCV000097408] |
Chr6:137219582 [GRCh38]
Chr6:137540719 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.1027G>A (p.Val343Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002228214]|not provided [RCV000097409] |
Chr6:137198474 [GRCh38]
Chr6:137519611 [GRCh37]
Chr6:6q23.3 |
uncertain significance|not provided |
| NM_000416.3(IFNGR1):c.1034A>G (p.His345Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002228215]|Immunodeficiency 27A [RCV001152180]|not provided [RCV000097410] |
Chr6:137198467 [GRCh38]
Chr6:137519604 [GRCh37]
Chr6:6q23.3 |
uncertain significance|not provided |
| NM_000416.3(IFNGR1):c.1204_1230dup (p.Cys402_Asn410dup) |
duplication |
Disseminated atypical mycobacterial infection [RCV002228216]|IFNGR1-related disorder [RCV003925099]|not provided [RCV000097411] |
Chr6:137198270..137198271 [GRCh38]
Chr6:137519407..137519408 [GRCh37]
Chr6:6q23.3 |
likely benign|not provided |
| NM_000416.3(IFNGR1):c.1268G>A (p.Ser423Asn) |
single nucleotide variant |
not provided [RCV000097412] |
Chr6:137198233 [GRCh38]
Chr6:137519370 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.373+116T>C |
single nucleotide variant |
not provided [RCV000097413] |
Chr6:137206020 [GRCh38]
Chr6:137527157 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.373+305dup |
duplication |
not provided [RCV000097414] |
Chr6:137205830..137205831 [GRCh38]
Chr6:137526967..137526968 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002228217]|IFNGR1-related disorder [RCV003925100]|Immunodeficiency 27A [RCV001081307]|not provided [RCV000097415]|not specified [RCV003398706] |
Chr6:137204340 [GRCh38]
Chr6:137525477 [GRCh37]
Chr6:6q23.3 |
benign|likely benign|not provided |
| NM_000416.3(IFNGR1):c.547-104A>G |
single nucleotide variant |
not provided [RCV000097416] |
Chr6:137203789 [GRCh38]
Chr6:137524926 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.547-131C>T |
single nucleotide variant |
not provided [RCV000097417] |
Chr6:137203816 [GRCh38]
Chr6:137524953 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.5C>T (p.Ala2Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002514552]|not provided [RCV000097418] |
Chr6:137219323 [GRCh38]
Chr6:137540460 [GRCh37]
Chr6:6q23.3 |
uncertain significance|not provided |
| NM_000416.3(IFNGR1):c.734-343C>A |
single nucleotide variant |
not provided [RCV000097419] |
Chr6:137201351 [GRCh38]
Chr6:137522488 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.85+18A>C |
single nucleotide variant |
not provided [RCV000097420] |
Chr6:137219225 [GRCh38]
Chr6:137540362 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.86-76C>T |
single nucleotide variant |
not provided [RCV000097421] |
Chr6:137207153 [GRCh38]
Chr6:137528290 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.861+42T>G |
single nucleotide variant |
not provided [RCV000097422] |
Chr6:137200839 [GRCh38]
Chr6:137521976 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.864C>G (p.Ile288Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001854517]|not provided [RCV000097423] |
Chr6:137198637 [GRCh38]
Chr6:137519774 [GRCh37]
Chr6:6q23.3 |
uncertain significance|not provided |
| NM_000416.3(IFNGR1):c.523del (p.Tyr175fs) |
deletion |
Disseminated atypical mycobacterial infection [RCV002229015]|Immunodeficiency 27A [RCV000190596]|Inherited Immunodeficiency Diseases [RCV001027575]|not provided [RCV001358286] |
Chr6:137204355 [GRCh38]
Chr6:137525492 [GRCh37]
Chr6:6q23.3 |
pathogenic|uncertain significance|no classifications from unflagged records |
| GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 |
copy number gain |
See cases [RCV000136826] |
Chr6:135358150..155455117 [GRCh38]
Chr6:135679288..155776251 [GRCh37]
Chr6:135720981..155817943 [NCBI36]
Chr6:6q23.3-25.3 |
pathogenic |
| GRCh38/hg38 6q23.3(chr6:136630655-137791240)x4 |
copy number gain |
See cases [RCV000138721] |
Chr6:136630655..137791240 [GRCh38]
Chr6:136951793..138112377 [GRCh37]
Chr6:136993486..138154070 [NCBI36]
Chr6:6q23.3 |
likely benign|uncertain significance |
| GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 |
copy number gain |
See cases [RCV000139729] |
Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1 |
pathogenic |
| GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 |
copy number gain |
See cases [RCV000143444] |
Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27 |
pathogenic |
| NM_000416.3(IFNGR1):c.85+10T>C |
single nucleotide variant |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency [RCV001702356]|Disseminated atypical mycobacterial infection [RCV002229902]|Immunodeficiency 27A [RCV000285373]|not provided [RCV001824754]|not specified [RCV000455036] |
Chr6:137219233 [GRCh38]
Chr6:137219233..137219234 [GRCh38]
Chr6:137540370 [GRCh37]
Chr6:137540370..137540371 [GRCh37]
Chr6:6q23.3 |
benign|not provided |
| NM_000416.3(IFNGR1):c.*217T>A |
single nucleotide variant |
Immunodeficiency 27A [RCV000279678] |
Chr6:137197814 [GRCh38]
Chr6:137518951 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002229898]|Immunodeficiency 27A [RCV000313682]|not provided [RCV001824753]|not specified [RCV000455568] |
Chr6:137198451 [GRCh38]
Chr6:137519588 [GRCh37]
Chr6:6q23.3 |
benign|likely benign|not provided |
| NM_000416.3(IFNGR1):c.1400T>C (p.Leu467Pro) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002229897]|Immunodeficiency 27A [RCV000368555] |
Chr6:137198101 [GRCh38]
Chr6:137519238 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.*206A>G |
single nucleotide variant |
Immunodeficiency 27A [RCV000334839] |
Chr6:137197825 [GRCh38]
Chr6:137518962 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.48G>A (p.Arg16=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002229904]|Immunodeficiency 27A [RCV000559823] |
Chr6:137219280 [GRCh38]
Chr6:137540417 [GRCh37]
Chr6:6q23.3 |
benign|uncertain significance |
| NM_000416.3(IFNGR1):c.522G>A (p.Val174=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002229900]|Immunodeficiency 27A [RCV000272369] |
Chr6:137204356 [GRCh38]
Chr6:137525493 [GRCh37]
Chr6:6q23.3 |
benign|uncertain significance |
| NM_000416.3(IFNGR1):c.490G>A (p.Glu164Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002229901]|IFNGR1-related disorder [RCV003418075]|Immunodeficiency 27A [RCV000320412]|Inborn genetic diseases [RCV002524469] |
Chr6:137204388 [GRCh38]
Chr6:137525525 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.368G>A (p.Arg123Gln) |
single nucleotide variant |
Immunodeficiency 27A [RCV000377483] |
Chr6:137206141 [GRCh38]
Chr6:137527278 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.2(IFNGR1):c.-72C>T |
single nucleotide variant |
Immunodeficiency 27A [RCV000386281] |
Chr6:137219399 [GRCh38]
Chr6:137540536 [GRCh37]
Chr6:6q23.3 |
benign|likely benign |
| NM_000416.3(IFNGR1):c.84A>G (p.Ser28=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002229903]|Immunodeficiency 27A [RCV000811128] |
Chr6:137219244 [GRCh38]
Chr6:137540381 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.588C>T (p.Asp196=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002229899]|Immunodeficiency 27A [RCV000364748] |
Chr6:137203644 [GRCh38]
Chr6:137524781 [GRCh37]
Chr6:6q23.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000416.3(IFNGR1):c.1101G>A (p.Pro367=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002229974]|IFNGR1-related disorder [RCV003950263]|Immunodeficiency 27A [RCV000884239]|not specified [RCV003488568] |
Chr6:137198400 [GRCh38]
Chr6:137519537 [GRCh37]
Chr6:6q23.3 |
benign|likely benign|uncertain significance |
| NM_000416.3(IFNGR1):c.*128G>T |
single nucleotide variant |
Immunodeficiency 27A [RCV000390882] |
Chr6:137197903 [GRCh38]
Chr6:137519040 [GRCh37]
Chr6:6q23.3 |
likely benign|uncertain significance |
| NM_000416.3(IFNGR1):c.-56T>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003153563]|Helicobacter pylori infection, susceptibility to [RCV001706979]|Hepatitis B virus, susceptibility to [RCV001706978]|Immunodeficiency 27A [RCV000336756]|Mycobacterium tuberculosis, protection against [RCV001706977]|not specified [RCV003488569] |
Chr6:137219383 [GRCh38]
Chr6:137540520 [GRCh37]
Chr6:6q23.3 |
risk factor|benign|protective |
| NM_000416.3(IFNGR1):c.862-4A>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002229975]|Immunodeficiency 27A [RCV000370631]|not specified [RCV000454477] |
Chr6:137198643 [GRCh38]
Chr6:137519780 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.*71G>T |
single nucleotide variant |
Immunodeficiency 27A [RCV000299789]|not provided [RCV004707151] |
Chr6:137197960 [GRCh38]
Chr6:137519097 [GRCh37]
Chr6:6q23.3 |
likely benign|uncertain significance |
| NM_000416.3(IFNGR1):c.*466A>G |
single nucleotide variant |
Immunodeficiency 27A [RCV000283043] |
Chr6:137197565 [GRCh38]
Chr6:137518702 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.711C>T (p.Thr237=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003766045]|Immunodeficiency 27A [RCV000269047] |
Chr6:137203521 [GRCh38]
Chr6:137524658 [GRCh37]
Chr6:6q23.3 |
likely benign|uncertain significance |
| NM_000416.3(IFNGR1):c.411G>C (p.Glu137Asp) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002532346]|not provided [RCV000587012] |
Chr6:137204467 [GRCh38]
Chr6:137525604 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.181G>A (p.Val61Ile) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234522]|IFNGR1-related disorder [RCV003937919]|Immunodeficiency 27A [RCV000638149] |
Chr6:137206982 [GRCh38]
Chr6:137528119 [GRCh37]
Chr6:6q23.3 |
benign|likely benign |
| NM_000416.3(IFNGR1):c.*297G>A |
single nucleotide variant |
Immunodeficiency 27A [RCV000389923] |
Chr6:137197734 [GRCh38]
Chr6:137518871 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.373+2T>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002231375] |
Chr6:137206134 [GRCh38]
Chr6:137527271 [GRCh37]
Chr6:6q23.3 |
pathogenic|likely pathogenic |
| NM_000416.3(IFNGR1):c.596A>G (p.Gln199Arg) |
single nucleotide variant |
Immunodeficiency 27A [RCV000326347] |
Chr6:137203636 [GRCh38]
Chr6:137524773 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.665A>G (p.His222Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002233764]|Immunodeficiency 27A [RCV000767993]|Immunodeficiency 27A [RCV003224411] |
Chr6:137203567 [GRCh38]
Chr6:137524704 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.729A>G (p.Ile243Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002559468]|Immunodeficiency 27A [RCV001152182] |
Chr6:137203503 [GRCh38]
Chr6:137524640 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.-21C>T |
single nucleotide variant |
Immunodeficiency 27A [RCV001152283] |
Chr6:137219348 [GRCh38]
Chr6:137540485 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.-52G>T |
single nucleotide variant |
Immunodeficiency 27A [RCV001152284] |
Chr6:137219379 [GRCh38]
Chr6:137540516 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1292C>T (p.Pro431Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001860126]|not provided [RCV000588608] |
Chr6:137198209 [GRCh38]
Chr6:137519346 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.135C>T (p.Ile45=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002232224]|not provided [RCV000589658] |
Chr6:137207028 [GRCh38]
Chr6:137528165 [GRCh37]
Chr6:6q23.3 |
benign|likely benign |
| NM_000416.3(IFNGR1):c.427A>T (p.Ile143Phe) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234519] |
Chr6:137204451 [GRCh38]
Chr6:137525588 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1 |
copy number loss |
See cases [RCV000510451] |
Chr6:133077239..143761582 [GRCh37]
Chr6:6q23.2-24.2 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_000416.3(IFNGR1):c.1342G>T (p.Val448Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234518] |
Chr6:137198159 [GRCh38]
Chr6:137519296 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1341C>T (p.Thr447=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234003]|Immunodeficiency 27A [RCV000638144]|not provided [RCV003992357]|not specified [RCV003230561] |
Chr6:137198160 [GRCh38]
Chr6:137519297 [GRCh37]
Chr6:6q23.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000416.3(IFNGR1):c.170C>G (p.Pro57Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003300500] |
Chr6:137206993 [GRCh38]
Chr6:137528130 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510) |
copy number loss |
not provided [RCV000767713] |
Chr6:135239633..146997510 [GRCh37]
Chr6:6q23.3-24.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.871G>T (p.Val291Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234517] |
Chr6:137198630 [GRCh38]
Chr6:137519767 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.609G>A (p.Ala203=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234520]|Immunodeficiency 27A [RCV000638145] |
Chr6:137203623 [GRCh38]
Chr6:137524760 [GRCh37]
Chr6:6q23.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000416.3(IFNGR1):c.201-12_201-9del |
deletion |
Disseminated atypical mycobacterial infection [RCV002234004] |
Chr6:137206317..137206320 [GRCh38]
Chr6:137527454..137527457 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1236T>C (p.Phe412=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234521] |
Chr6:137198265 [GRCh38]
Chr6:137519402 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.236A>G (p.Asn79Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002232890]|Immunodeficiency 27A [RCV000689808] |
Chr6:137206273 [GRCh38]
Chr6:137527410 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1160C>T (p.Ser387Phe) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002233205] |
Chr6:137198341 [GRCh38]
Chr6:137519478 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1448A>G (p.Glu483Gly) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002233432] |
Chr6:137198053 [GRCh38]
Chr6:137519190 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.694A>G (p.Lys232Glu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002233391]|Immunodeficiency 27A [RCV000703156] |
Chr6:137203538 [GRCh38]
Chr6:137524675 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6q23.3(chr6:137433986-137600146)x3 |
copy number gain |
not provided [RCV000746054] |
Chr6:137433986..137600146 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.373+1G>T |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003597211]|not provided [RCV001702995] |
Chr6:137206135 [GRCh38]
Chr6:137527272 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.547-42A>T |
single nucleotide variant |
Immunodeficiency 27A [RCV000987792] |
Chr6:137203727 [GRCh38]
Chr6:137524864 [GRCh37]
Chr6:6q23.3 |
likely pathogenic |
| NM_000416.3(IFNGR1):c.111_116delinsAATGTTA (p.Glu38fs) |
indel |
not provided [RCV003239202] |
Chr6:137207047..137207052 [GRCh38]
Chr6:137528184..137528189 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1155C>T (p.Asn385=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235662] |
Chr6:137198346 [GRCh38]
Chr6:137519483 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.336C>T (p.Ala112=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002236047] |
Chr6:137206173 [GRCh38]
Chr6:137527310 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.1353C>A (p.Ala451=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235856] |
Chr6:137198148 [GRCh38]
Chr6:137519285 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.975G>A (p.Pro325=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235973] |
Chr6:137198526 [GRCh38]
Chr6:137519663 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.92C>G (p.Thr31Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002240210] |
Chr6:137207071 [GRCh38]
Chr6:137528208 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1016A>G (p.Asn339Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002239306]|not provided [RCV003233932] |
Chr6:137198485 [GRCh38]
Chr6:137519622 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.200+15T>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234172]|Immunodeficiency 27A [RCV001156055]|not provided [RCV004707409]|not specified [RCV000780352] |
Chr6:137206948 [GRCh38]
Chr6:137528085 [GRCh37]
Chr6:6q23.3 |
benign|likely benign |
| NM_000416.3(IFNGR1):c.866C>G (p.Ser289Cys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234211] |
Chr6:137198635 [GRCh38]
Chr6:137519772 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.40G>A (p.Val14Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235608]|Immunodeficiency 27A [RCV000897561] |
Chr6:137219288 [GRCh38]
Chr6:137540425 [GRCh37]
Chr6:6q23.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000416.3(IFNGR1):c.1272C>T (p.Ser424=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235794] |
Chr6:137198229 [GRCh38]
Chr6:137519366 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.295T>C (p.Trp99Arg) |
single nucleotide variant |
Immunodeficiency 27A [RCV001030047] |
Chr6:137206214 [GRCh38]
Chr6:137527351 [GRCh37]
Chr6:6q23.3 |
likely pathogenic |
| NM_000416.3(IFNGR1):c.655G>A (p.Gly219Arg) |
single nucleotide variant |
Immunodeficiency 27A [RCV000779493] |
Chr6:137203577 [GRCh38]
Chr6:137524714 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.566C>A (p.Thr189Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234322]|Immunodeficiency 27A [RCV001027788]|Immunodeficiency 27A [RCV003224475] |
Chr6:137203666 [GRCh38]
Chr6:137524803 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.136G>A (p.Val46Ile) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235604] |
Chr6:137207027 [GRCh38]
Chr6:137528164 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.641_644delinsCC (p.Cys214fs) |
indel |
Disseminated atypical mycobacterial infection [RCV002537280] |
Chr6:137203588..137203591 [GRCh38]
Chr6:137524725..137524728 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.979T>A (p.Ser327Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235083] |
Chr6:137198522 [GRCh38]
Chr6:137519659 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.547-48_547-45del |
deletion |
Immunodeficiency 27A [RCV000987793] |
Chr6:137203730..137203733 [GRCh38]
Chr6:137524867..137524870 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.77C>T (p.Pro26Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235547] |
Chr6:137219251 [GRCh38]
Chr6:137540388 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.589G>A (p.Glu197Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234266]|Immunodeficiency 27A [RCV000795500]|not provided [RCV004692269] |
Chr6:137203643 [GRCh38]
Chr6:137524780 [GRCh37]
Chr6:6q23.3 |
likely benign|uncertain significance |
| NM_000416.3(IFNGR1):c.547A>G (p.Ile183Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002233832]|not specified [RCV001193580] |
Chr6:137203685 [GRCh38]
Chr6:137524822 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1056A>G (p.Ile352Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235072]|not provided [RCV004693364] |
Chr6:137198445 [GRCh38]
Chr6:137519582 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.286A>G (p.Asn96Asp) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234759] |
Chr6:137206223 [GRCh38]
Chr6:137527360 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.664C>T (p.His222Tyr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235120]|Immunodeficiency 27A [RCV000819247] |
Chr6:137203568 [GRCh38]
Chr6:137524705 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.380T>C (p.Ile127Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002233830] |
Chr6:137204498 [GRCh38]
Chr6:137525635 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.111T>G (p.Ile37Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002234229] |
Chr6:137207052 [GRCh38]
Chr6:137528189 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.733+1G>T |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235426] |
Chr6:137203498 [GRCh38]
Chr6:137524635 [GRCh37]
Chr6:6q23.3 |
likely pathogenic |
| NM_000416.3(IFNGR1):c.297G>T (p.Trp99Cys) |
single nucleotide variant |
Immunodeficiency 27A [RCV000795214] |
Chr6:137206212 [GRCh38]
Chr6:137527349 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1008C>T (p.Thr336=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235721] |
Chr6:137198493 [GRCh38]
Chr6:137519630 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.790G>A (p.Val264Ile) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002032401]|Immunodeficiency 27A [RCV001152181] |
Chr6:137200952 [GRCh38]
Chr6:137522089 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.476del (p.Val159fs) |
deletion |
Immunodeficiency 27A [RCV001030048] |
Chr6:137204402 [GRCh38]
Chr6:137525539 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.58G>C (p.Gly20Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002240256] |
Chr6:137219270 [GRCh38]
Chr6:137540407 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.86-1_93del |
deletion |
Immunodeficiency 27A [RCV000987794] |
Chr6:137207070..137207078 [GRCh38]
Chr6:137528207..137528215 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.841A>G (p.Ile281Val) |
single nucleotide variant |
Immunodeficiency 27A [RCV001223414] |
Chr6:137200901 [GRCh38]
Chr6:137522038 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.277G>A (p.Asp93Asn) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241479] |
Chr6:137206232 [GRCh38]
Chr6:137527369 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.167T>G (p.Val56Gly) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241303] |
Chr6:137206996 [GRCh38]
Chr6:137528133 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.26T>A (p.Leu9His) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241308] |
Chr6:137219302 [GRCh38]
Chr6:137540439 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1141C>A (p.Pro381Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241529]|not provided [RCV004692298] |
Chr6:137198360 [GRCh38]
Chr6:137519497 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.385C>A (p.Pro129Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241485] |
Chr6:137204493 [GRCh38]
Chr6:137525630 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.603G>T (p.Gln201His) |
single nucleotide variant |
Inborn genetic diseases [RCV003241528] |
Chr6:137203629 [GRCh38]
Chr6:137524766 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.478G>A (p.Asp160Asn) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002557332]|Immunodeficiency 27A [RCV001156052] |
Chr6:137204400 [GRCh38]
Chr6:137525537 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.2(IFNGR1):c.*547G>A |
single nucleotide variant |
Immunodeficiency 27A [RCV001153331] |
Chr6:137197484 [GRCh38]
Chr6:137518621 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.643G>A (p.Val215Ile) |
single nucleotide variant |
Immunodeficiency 27A [RCV001153464] |
Chr6:137203589 [GRCh38]
Chr6:137524726 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1187C>T (p.Ser396Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002558381]|Immunodeficiency 27A [RCV001157648] |
Chr6:137198314 [GRCh38]
Chr6:137519451 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.216A>G (p.Glu72=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002236198]|IFNGR1-related disorder [RCV003955921]|not specified [RCV003387944] |
Chr6:137206293 [GRCh38]
Chr6:137527430 [GRCh37]
Chr6:6q23.3 |
benign|likely benign |
| NM_000416.3(IFNGR1):c.1176C>T (p.Ile392=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235874] |
Chr6:137198325 [GRCh38]
Chr6:137519462 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.*487G>A |
single nucleotide variant |
Immunodeficiency 27A [RCV001153332] |
Chr6:137197544 [GRCh38]
Chr6:137518681 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.443C>G (p.Pro148Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241634] |
Chr6:137204435 [GRCh38]
Chr6:137525572 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1043A>C (p.Glu348Ala) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241606] |
Chr6:137198458 [GRCh38]
Chr6:137519595 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.385C>T (p.Pro129Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241522] |
Chr6:137204493 [GRCh38]
Chr6:137525630 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1 |
copy number loss |
not provided [RCV001005848] |
Chr6:133817341..140038401 [GRCh37]
Chr6:6q23.2-24.1 |
pathogenic |
| NM_000416.3(IFNGR1):c.1120A>G (p.Ile374Val) |
single nucleotide variant |
Immunodeficiency 27A [RCV001157649] |
Chr6:137198381 [GRCh38]
Chr6:137519518 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.465C>T (p.Asp155=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002235501] |
Chr6:137204413 [GRCh38]
Chr6:137525550 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.*462A>C |
single nucleotide variant |
Immunodeficiency 27A [RCV001155947] |
Chr6:137197569 [GRCh38]
Chr6:137518706 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1252T>C (p.Cys418Arg) |
single nucleotide variant |
Immunodeficiency 27A [RCV001157647] |
Chr6:137198249 [GRCh38]
Chr6:137519386 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.-57G>A |
single nucleotide variant |
Immunodeficiency 27A [RCV001152285] |
Chr6:137219384 [GRCh38]
Chr6:137540521 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.423C>G (p.Ile141Met) |
single nucleotide variant |
Immunodeficiency 27A [RCV001156053] |
Chr6:137204455 [GRCh38]
Chr6:137525592 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.231C>T (p.Cys77=) |
single nucleotide variant |
Immunodeficiency 27A [RCV001156054] |
Chr6:137206278 [GRCh38]
Chr6:137527415 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.85+5C>T |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002240395]|IFNGR1-related disorder [RCV003963024] |
Chr6:137219238 [GRCh38]
Chr6:137540375 [GRCh37]
Chr6:6q23.3 |
likely benign|uncertain significance |
| NM_000416.3(IFNGR1):c.5C>G (p.Ala2Gly) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002240553] |
Chr6:137219323 [GRCh38]
Chr6:137540460 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.913G>A (p.Val305Ile) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002240196] |
Chr6:137198588 [GRCh38]
Chr6:137519725 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1009G>A (p.Glu337Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002239378] |
Chr6:137198492 [GRCh38]
Chr6:137519629 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.566C>T (p.Thr189Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002239338]|not provided [RCV003883538] |
Chr6:137203666 [GRCh38]
Chr6:137524803 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NC_000006.11:g.(?_136482728)_(137540520_?)del |
deletion |
Immunodeficiency 27A [RCV001031275] |
Chr6:136482728..137540520 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.713T>C (p.Ile238Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241258] |
Chr6:137203519 [GRCh38]
Chr6:137524656 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.*41G>A |
single nucleotide variant |
Immunodeficiency 27A [RCV001157646] |
Chr6:137197990 [GRCh38]
Chr6:137519127 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.775C>G (p.Leu259Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241126] |
Chr6:137200967 [GRCh38]
Chr6:137522104 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.92C>T (p.Thr31Ile) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002240309] |
Chr6:137207071 [GRCh38]
Chr6:137528208 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.816_817dup (p.Ile273fs) |
duplication |
Disseminated atypical mycobacterial infection [RCV002241215] |
Chr6:137200924..137200925 [GRCh38]
Chr6:137522061..137522062 [GRCh37]
Chr6:6q23.3 |
likely pathogenic|uncertain significance |
| NM_000416.3(IFNGR1):c.*258C>T |
single nucleotide variant |
Immunodeficiency 27A [RCV001155948] |
Chr6:137197773 [GRCh38]
Chr6:137518910 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.*244T>C |
single nucleotide variant |
Immunodeficiency 27A [RCV001155949] |
Chr6:137197787 [GRCh38]
Chr6:137518924 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1155C>G (p.Asn385Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241230] |
Chr6:137198346 [GRCh38]
Chr6:137519483 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.*475G>A |
single nucleotide variant |
Immunodeficiency 27A [RCV001153333] |
Chr6:137197556 [GRCh38]
Chr6:137518693 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.180C>T (p.Thr60=) |
single nucleotide variant |
Immunodeficiency 27A [RCV001157764] |
Chr6:137206983 [GRCh38]
Chr6:137528120 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| GRCh37/hg19 6q23.3(chr6:137517088-137606046)x1 |
copy number loss |
not provided [RCV001259967] |
Chr6:137517088..137606046 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1 |
copy number loss |
not provided [RCV001537931] |
Chr6:133810210..140046615 [GRCh37]
Chr6:6q23.2-24.1 |
pathogenic |
| NM_000416.3(IFNGR1):c.974C>T (p.Pro325Leu) |
single nucleotide variant |
Immunodeficiency 27A [RCV001281062] |
Chr6:137198527 [GRCh38]
Chr6:137519664 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.370G>T (p.Asp124Tyr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241939] |
Chr6:137206139 [GRCh38]
Chr6:137527276 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1414G>A (p.Gly472Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002242419] |
Chr6:137198087 [GRCh38]
Chr6:137519224 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.63C>G (p.Thr21=) |
single nucleotide variant |
not provided [RCV001310937] |
Chr6:137219265 [GRCh38]
Chr6:137540402 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.434T>C (p.Ile145Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002242321] |
Chr6:137204444 [GRCh38]
Chr6:137525581 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.85+15G>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002242857] |
Chr6:137219228 [GRCh38]
Chr6:137540365 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.740T>C (p.Leu247Pro) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002242742] |
Chr6:137201002 [GRCh38]
Chr6:137522139 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.127A>T (p.Asn43Tyr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002242051] |
Chr6:137207036 [GRCh38]
Chr6:137528173 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1430T>C (p.Ile477Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002242355] |
Chr6:137198071 [GRCh38]
Chr6:137519208 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NC_000006.11:g.(?_137143759)_(137540520_?)dup |
duplication |
Disseminated atypical mycobacterial infection [RCV002242664] |
Chr6:137143759..137540520 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1314A>G (p.Ile438Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002242724] |
Chr6:137198187 [GRCh38]
Chr6:137519324 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.258T>C (p.Asn86=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002240282] |
Chr6:137206251 [GRCh38]
Chr6:137527388 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.189A>G (p.Val63=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002237190] |
Chr6:137206974 [GRCh38]
Chr6:137528111 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1398A>G (p.Leu466=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002236364] |
Chr6:137198103 [GRCh38]
Chr6:137519240 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.547-4C>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002242969] |
Chr6:137203689 [GRCh38]
Chr6:137524826 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.402C>T (p.Ile134=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002239417] |
Chr6:137204476 [GRCh38]
Chr6:137525613 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1092C>T (p.Asp364=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002236338]|IFNGR1-related disorder [RCV003953812]|not provided [RCV004706151] |
Chr6:137198409 [GRCh38]
Chr6:137519546 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1389A>C (p.Leu463=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002242950]|not specified [RCV003226473] |
Chr6:137198112 [GRCh38]
Chr6:137519249 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1320A>G (p.Thr440=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002239408] |
Chr6:137198181 [GRCh38]
Chr6:137519318 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.547-62dup |
duplication |
not specified [RCV001529612] |
Chr6:137203733..137203734 [GRCh38]
Chr6:137524870..137524871 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.86-5T>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002236129] |
Chr6:137207082 [GRCh38]
Chr6:137528219 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.569A>C (p.Gln190Pro) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001971561] |
Chr6:137203663 [GRCh38]
Chr6:137524800 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.733+3A>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002008901] |
Chr6:137203496 [GRCh38]
Chr6:137524633 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.180C>A (p.Thr60=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001895757] |
Chr6:137206983 [GRCh38]
Chr6:137528120 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1265A>G (p.His422Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001929968] |
Chr6:137198236 [GRCh38]
Chr6:137519373 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.590A>G (p.Glu197Gly) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001908559] |
Chr6:137203642 [GRCh38]
Chr6:137524779 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1066G>A (p.Val356Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001912991] |
Chr6:137198435 [GRCh38]
Chr6:137519572 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1342G>A (p.Val448Ile) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001908620] |
Chr6:137198159 [GRCh38]
Chr6:137519296 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.412G>A (p.Glu138Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001948842] |
Chr6:137204466 [GRCh38]
Chr6:137525603 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.451T>G (p.Phe151Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002043755] |
Chr6:137204427 [GRCh38]
Chr6:137525564 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.269A>T (p.His90Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002042288] |
Chr6:137206240 [GRCh38]
Chr6:137527377 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.490G>C (p.Glu164Gln) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001983270] |
Chr6:137204388 [GRCh38]
Chr6:137525525 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NC_000006.11:g.(?_137143759)_(138202456_?)del |
deletion |
Disseminated atypical mycobacterial infection [RCV002014736]|not provided [RCV002004826] |
Chr6:137143759..138202456 [GRCh37]
Chr6:6q23.3 |
pathogenic|no classifications from unflagged records |
| NM_000416.3(IFNGR1):c.1351G>A (p.Ala451Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002003189] |
Chr6:137198150 [GRCh38]
Chr6:137519287 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.920T>G (p.Leu307Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001983725] |
Chr6:137198581 [GRCh38]
Chr6:137519718 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1457A>G (p.Lys486Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001939993] |
Chr6:137198044 [GRCh38]
Chr6:137519181 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1249A>G (p.Ser417Gly) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001943961] |
Chr6:137198252 [GRCh38]
Chr6:137519389 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1199G>A (p.Arg400Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001957580] |
Chr6:137198302 [GRCh38]
Chr6:137519439 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.251A>T (p.Tyr84Phe) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001922630] |
Chr6:137206258 [GRCh38]
Chr6:137527395 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1282T>C (p.Ser428Pro) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001979809] |
Chr6:137198219 [GRCh38]
Chr6:137519356 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.111_112del (p.Glu38fs) |
deletion |
Disseminated atypical mycobacterial infection [RCV001939571] |
Chr6:137207051..137207052 [GRCh38]
Chr6:137528188..137528189 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.926C>T (p.Thr309Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002036949] |
Chr6:137198575 [GRCh38]
Chr6:137519712 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.781del (p.Ser262fs) |
deletion |
Disseminated atypical mycobacterial infection [RCV001941719] |
Chr6:137200961 [GRCh38]
Chr6:137522098 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.1100C>T (p.Pro367Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001952872]|Inborn genetic diseases [RCV002561487] |
Chr6:137198401 [GRCh38]
Chr6:137519538 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.804T>G (p.Phe268Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002031563] |
Chr6:137200938 [GRCh38]
Chr6:137522075 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.769_771del (p.Leu257del) |
deletion |
Disseminated atypical mycobacterial infection [RCV001867514] |
Chr6:137200971..137200973 [GRCh38]
Chr6:137522108..137522110 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1403T>G (p.Val468Gly) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001932798] |
Chr6:137198098 [GRCh38]
Chr6:137519235 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.133A>G (p.Ile45Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001917156] |
Chr6:137207030 [GRCh38]
Chr6:137528167 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1346T>C (p.Ile449Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001899728] |
Chr6:137198155 [GRCh38]
Chr6:137519292 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1220A>C (p.His407Pro) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001995392] |
Chr6:137198281 [GRCh38]
Chr6:137519418 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.805del (p.Tyr269fs) |
deletion |
Disseminated atypical mycobacterial infection [RCV001993343] |
Chr6:137200937 [GRCh38]
Chr6:137522074 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.398A>G (p.Asp133Gly) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002026827] |
Chr6:137204480 [GRCh38]
Chr6:137525617 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.326A>G (p.Lys109Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001935244] |
Chr6:137206183 [GRCh38]
Chr6:137527320 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.33G>A (p.Met11Ile) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002047100] |
Chr6:137219295 [GRCh38]
Chr6:137540432 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.733+2T>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001976928] |
Chr6:137203497 [GRCh38]
Chr6:137524634 [GRCh37]
Chr6:6q23.3 |
likely pathogenic |
| NM_000416.3(IFNGR1):c.1214G>A (p.Ser405Asn) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002016488] |
Chr6:137198287 [GRCh38]
Chr6:137519424 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1202A>G (p.Asn401Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001879442] |
Chr6:137198299 [GRCh38]
Chr6:137519436 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.67G>A (p.Asp23Asn) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001996726] |
Chr6:137219261 [GRCh38]
Chr6:137540398 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.152A>G (p.Gln51Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001875353] |
Chr6:137207011 [GRCh38]
Chr6:137528148 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1217A>G (p.Asp406Gly) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001981969] |
Chr6:137198284 [GRCh38]
Chr6:137519421 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1093G>A (p.Val365Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001885664] |
Chr6:137198408 [GRCh38]
Chr6:137519545 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1321G>A (p.Glu441Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001972105] |
Chr6:137198180 [GRCh38]
Chr6:137519317 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.689A>G (p.Lys230Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001880424] |
Chr6:137203543 [GRCh38]
Chr6:137524680 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1087C>T (p.Pro363Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001953073] |
Chr6:137198414 [GRCh38]
Chr6:137519551 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.227C>T (p.Ala76Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001917214] |
Chr6:137206282 [GRCh38]
Chr6:137527419 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.991G>A (p.Val331Ile) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001937742] |
Chr6:137198510 [GRCh38]
Chr6:137519647 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1337T>A (p.Ile446Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV001936415] |
Chr6:137198164 [GRCh38]
Chr6:137519301 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.168C>T (p.Val56=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002145195] |
Chr6:137206995 [GRCh38]
Chr6:137528132 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.374-18C>T |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002125812] |
Chr6:137204522 [GRCh38]
Chr6:137525659 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.201-12del |
deletion |
Disseminated atypical mycobacterial infection [RCV002129670] |
Chr6:137206320 [GRCh38]
Chr6:137527457 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.405A>G (p.Arg135=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002165815] |
Chr6:137204473 [GRCh38]
Chr6:137525610 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1038A>G (p.Thr346=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002149804] |
Chr6:137198463 [GRCh38]
Chr6:137519600 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV002224635] |
Chr6:137219327 [GRCh38]
Chr6:137540464 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.156C>T (p.Ile52=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002212636] |
Chr6:137207007 [GRCh38]
Chr6:137528144 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.657A>C (p.Gly219=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002195227] |
Chr6:137203575 [GRCh38]
Chr6:137524712 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.85+15G>A |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002093723] |
Chr6:137219228 [GRCh38]
Chr6:137540365 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.117C>G (p.Ser39=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002172883] |
Chr6:137207046 [GRCh38]
Chr6:137528183 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.723C>T (p.Ser241=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002095488] |
Chr6:137203509 [GRCh38]
Chr6:137524646 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.855G>A (p.Lys285=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002173369] |
Chr6:137200887 [GRCh38]
Chr6:137522024 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.374-16C>T |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002095820] |
Chr6:137204520 [GRCh38]
Chr6:137525657 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.547-16T>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002212248] |
Chr6:137203701 [GRCh38]
Chr6:137524838 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.537C>T (p.Asn179=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002134087] |
Chr6:137204341 [GRCh38]
Chr6:137525478 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.825A>G (p.Pro275=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002167043] |
Chr6:137200917 [GRCh38]
Chr6:137522054 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.477C>T (p.Val159=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002099115] |
Chr6:137204401 [GRCh38]
Chr6:137525538 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1341C>G (p.Thr447=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002101008] |
Chr6:137198160 [GRCh38]
Chr6:137519297 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1197C>T (p.Ser399=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002218392] |
Chr6:137198304 [GRCh38]
Chr6:137519441 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.85+56_85+74dup |
duplication |
not specified [RCV002222988] |
Chr6:137219168..137219169 [GRCh38]
Chr6:137540305..137540306 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.921C>T (p.Leu307=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002178742] |
Chr6:137198580 [GRCh38]
Chr6:137519717 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.252T>C (p.Tyr84=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002179806] |
Chr6:137206257 [GRCh38]
Chr6:137527394 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.200+20T>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002103011] |
Chr6:137206943 [GRCh38]
Chr6:137528080 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NC_000006.11:g.(?_137519168)_(137528234_?)dup |
duplication |
Disseminated atypical mycobacterial infection [RCV003111186] |
Chr6:137519168..137528234 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.511G>T (p.Val171Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002297335] |
Chr6:137204367 [GRCh38]
Chr6:137525504 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1228A>C (p.Asn410His) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002300340] |
Chr6:137198273 [GRCh38]
Chr6:137519410 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.520G>T (p.Val174Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003073578] |
Chr6:137204358 [GRCh38]
Chr6:137525495 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1119A>G (p.Pro373=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002615864] |
Chr6:137198382 [GRCh38]
Chr6:137519519 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.356T>C (p.Phe119Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002861467] |
Chr6:137206153 [GRCh38]
Chr6:137527290 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1454C>G (p.Ser485Cys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002755379] |
Chr6:137198047 [GRCh38]
Chr6:137519184 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.85+5C>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003076627] |
Chr6:137219238 [GRCh38]
Chr6:137540375 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.643_644del (p.Val215fs) |
microsatellite |
Disseminated atypical mycobacterial infection [RCV002999245] |
Chr6:137203588..137203589 [GRCh38]
Chr6:137524725..137524726 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.77C>A (p.Pro26Gln) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002570316] |
Chr6:137219251 [GRCh38]
Chr6:137540388 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.81C>T (p.Ser27=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002949104] |
Chr6:137219247 [GRCh38]
Chr6:137540384 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.682A>G (p.Thr228Ala) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002639290]|Inborn genetic diseases [RCV003167572] |
Chr6:137203550 [GRCh38]
Chr6:137524687 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.982C>T (p.Pro328Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003018890] |
Chr6:137198519 [GRCh38]
Chr6:137519656 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1129G>C (p.Glu377Gln) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002913809] |
Chr6:137198372 [GRCh38]
Chr6:137519509 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.733+11G>A |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003022776] |
Chr6:137203488 [GRCh38]
Chr6:137524625 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.773T>C (p.Phe258Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002803918] |
Chr6:137200969 [GRCh38]
Chr6:137522106 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.319G>A (p.Gly107Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002954938] |
Chr6:137206190 [GRCh38]
Chr6:137527327 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.791T>C (p.Val264Ala) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596228]|Inborn genetic diseases [RCV002915530] |
Chr6:137200951 [GRCh38]
Chr6:137522088 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.563T>C (p.Leu188Pro) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002575578] |
Chr6:137203669 [GRCh38]
Chr6:137524806 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1367G>A (p.Gly456Asp) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003022281] |
Chr6:137198134 [GRCh38]
Chr6:137519271 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1300A>G (p.Asn434Asp) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003022575] |
Chr6:137198201 [GRCh38]
Chr6:137519338 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.641_642delinsCC (p.Cys214Ser) |
indel |
Disseminated atypical mycobacterial infection [RCV003007313] |
Chr6:137203590..137203591 [GRCh38]
Chr6:137524727..137524728 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1190A>G (p.Tyr397Cys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002644042] |
Chr6:137198311 [GRCh38]
Chr6:137519448 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.724A>G (p.Ser242Gly) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003082882] |
Chr6:137203508 [GRCh38]
Chr6:137524645 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1048T>C (p.Ser350Pro) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003090701] |
Chr6:137198453 [GRCh38]
Chr6:137519590 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.608C>T (p.Ala203Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002602902] |
Chr6:137203624 [GRCh38]
Chr6:137524761 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.674G>T (p.Gly225Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003065941] |
Chr6:137203558 [GRCh38]
Chr6:137524695 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1188G>A (p.Ser396=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002580411] |
Chr6:137198313 [GRCh38]
Chr6:137519450 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.201-19A>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002646711] |
Chr6:137206327 [GRCh38]
Chr6:137527464 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.734-4T>A |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002630810] |
Chr6:137201012 [GRCh38]
Chr6:137522149 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.760G>A (p.Ala254Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002831173] |
Chr6:137200982 [GRCh38]
Chr6:137522119 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1229A>G (p.Asn410Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002671842] |
Chr6:137198272 [GRCh38]
Chr6:137519409 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.518A>G (p.Asn173Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003086307] |
Chr6:137204360 [GRCh38]
Chr6:137525497 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1260A>G (p.Glu420=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002898661] |
Chr6:137198241 [GRCh38]
Chr6:137519378 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1052G>C (p.Ser351Thr) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002715683] |
Chr6:137198449 [GRCh38]
Chr6:137519586 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1277C>T (p.Ser426Phe) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003048191] |
Chr6:137198224 [GRCh38]
Chr6:137519361 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.547-14C>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002646074] |
Chr6:137203699 [GRCh38]
Chr6:137524836 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.861+17T>A |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002629971] |
Chr6:137200864 [GRCh38]
Chr6:137522001 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.615A>C (p.Pro205=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002725689] |
Chr6:137203617 [GRCh38]
Chr6:137524754 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.379A>C (p.Ile127Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002608641] |
Chr6:137204499 [GRCh38]
Chr6:137525636 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.372T>A (p.Asp124Glu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002587410] |
Chr6:137206137 [GRCh38]
Chr6:137527274 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.21A>G (p.Leu7=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002721934] |
Chr6:137219307 [GRCh38]
Chr6:137540444 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.988A>G (p.Thr330Ala) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003067284] |
Chr6:137198513 [GRCh38]
Chr6:137519650 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.711del (p.Ile238fs) |
deletion |
not provided [RCV003159316] |
Chr6:137203521 [GRCh38]
Chr6:137524658 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1059A>G (p.Thr353=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003873097] |
Chr6:137198442 [GRCh38]
Chr6:137519579 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.862-16A>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003872836] |
Chr6:137198655 [GRCh38]
Chr6:137519792 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.-19A>G |
single nucleotide variant |
not specified [RCV003480003] |
Chr6:137219346 [GRCh38]
Chr6:137540483 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.676G>T (p.Val226Phe) |
single nucleotide variant |
IFNGR1-related disorder [RCV003412182] |
Chr6:137203556 [GRCh38]
Chr6:137524693 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.85+45G>A |
single nucleotide variant |
not specified [RCV003490326] |
Chr6:137219198 [GRCh38]
Chr6:137540335 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.513G>T (p.Val171=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003831605] |
Chr6:137204365 [GRCh38]
Chr6:137525502 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.693A>C (p.Ser231=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003879015] |
Chr6:137203539 [GRCh38]
Chr6:137524676 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.567G>A (p.Thr189=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003827650] |
Chr6:137203665 [GRCh38]
Chr6:137524802 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.13T>C (p.Phe5Leu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003830986] |
Chr6:137219315 [GRCh38]
Chr6:137540452 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.86-2817G>A |
single nucleotide variant |
not specified [RCV003490319] |
Chr6:137209894 [GRCh38]
Chr6:137531031 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.85+3925C>T |
single nucleotide variant |
not specified [RCV003490392] |
Chr6:137215318 [GRCh38]
Chr6:137536455 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.86-2978A>G |
single nucleotide variant |
not specified [RCV003490325] |
Chr6:137210055 [GRCh38]
Chr6:137531192 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.461G>A (p.Gly154Glu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003881468] |
Chr6:137204417 [GRCh38]
Chr6:137525554 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.680C>A (p.Thr227Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003762361] |
Chr6:137203552 [GRCh38]
Chr6:137524689 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.374-20T>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003762374] |
Chr6:137204524 [GRCh38]
Chr6:137525661 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1241C>T (p.Thr414Ile) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003597054] |
Chr6:137198260 [GRCh38]
Chr6:137519397 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.91A>G (p.Thr31Ala) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003597196] |
Chr6:137207072 [GRCh38]
Chr6:137528209 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1413C>T (p.Ser471=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003763310] |
Chr6:137198088 [GRCh38]
Chr6:137519225 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1104C>A (p.Gly368=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003763507] |
Chr6:137198397 [GRCh38]
Chr6:137519534 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.785G>A (p.Ser262Asn) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596280] |
Chr6:137200957 [GRCh38]
Chr6:137522094 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.832G>A (p.Glu278Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003763545] |
Chr6:137200910 [GRCh38]
Chr6:137522047 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.86-7C>T |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596340] |
Chr6:137207084 [GRCh38]
Chr6:137528221 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1054A>G (p.Ile352Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596471] |
Chr6:137198447 [GRCh38]
Chr6:137519584 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.672G>A (p.Trp224Ter) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596853] |
Chr6:137203560 [GRCh38]
Chr6:137524697 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.34C>G (p.Gln12Glu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596908]|not provided [RCV004765896] |
Chr6:137219294 [GRCh38]
Chr6:137540431 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.653A>C (p.Glu218Ala) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596946] |
Chr6:137203579 [GRCh38]
Chr6:137524716 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1042G>A (p.Glu348Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003597002] |
Chr6:137198459 [GRCh38]
Chr6:137519596 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.203T>A (p.Val68Asp) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003597179] |
Chr6:137206306 [GRCh38]
Chr6:137527443 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.571A>G (p.Lys191Glu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003840213] |
Chr6:137203661 [GRCh38]
Chr6:137524798 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.74G>T (p.Gly25Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003763668] |
Chr6:137219254 [GRCh38]
Chr6:137540391 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.182T>C (p.Val61Ala) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596726] |
Chr6:137206981 [GRCh38]
Chr6:137528118 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.5C>A (p.Ala2Asp) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003763723] |
Chr6:137219323 [GRCh38]
Chr6:137540460 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.750A>G (p.Pro250=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003761722] |
Chr6:137200992 [GRCh38]
Chr6:137522129 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.437T>G (p.Phe146Cys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596873] |
Chr6:137204441 [GRCh38]
Chr6:137525578 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.486T>A (p.Asp162Glu) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003762315] |
Chr6:137204392 [GRCh38]
Chr6:137525529 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.733+7T>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003763318] |
Chr6:137203492 [GRCh38]
Chr6:137524629 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.201-13T>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003834627] |
Chr6:137206321 [GRCh38]
Chr6:137527458 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.200+15T>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003764412] |
Chr6:137206948 [GRCh38]
Chr6:137528085 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.45C>T (p.Ser15=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003837334] |
Chr6:137219283 [GRCh38]
Chr6:137540420 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.546+19T>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596902] |
Chr6:137204313 [GRCh38]
Chr6:137525450 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1434T>C (p.Gly478=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003764386] |
Chr6:137198067 [GRCh38]
Chr6:137519204 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.373+9A>G |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003762456] |
Chr6:137206127 [GRCh38]
Chr6:137527264 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.733+7dup |
duplication |
Disseminated atypical mycobacterial infection [RCV003764423] |
Chr6:137203491..137203492 [GRCh38]
Chr6:137524628..137524629 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.584G>T (p.Cys195Phe) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596412] |
Chr6:137203648 [GRCh38]
Chr6:137524785 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.549C>G (p.Ile183Met) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003838062] |
Chr6:137203683 [GRCh38]
Chr6:137524820 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.201-1G>C |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003763373] |
Chr6:137206309 [GRCh38]
Chr6:137527446 [GRCh37]
Chr6:6q23.3 |
likely pathogenic |
| NM_000416.3(IFNGR1):c.1109A>G (p.His370Arg) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003597011] |
Chr6:137198392 [GRCh38]
Chr6:137519529 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.927G>A (p.Thr309=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596383] |
Chr6:137198574 [GRCh38]
Chr6:137519711 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.86-12A>T |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596323] |
Chr6:137207089 [GRCh38]
Chr6:137528226 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.28G>A (p.Val10Ile) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003762549] |
Chr6:137219300 [GRCh38]
Chr6:137540437 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.200G>A (p.Gly67Asp) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003596915] |
Chr6:137206963 [GRCh38]
Chr6:137528100 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.712A>G (p.Ile238Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003819980] |
Chr6:137203520 [GRCh38]
Chr6:137524657 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.808A>G (p.Ile270Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003864412] |
Chr6:137200934 [GRCh38]
Chr6:137522071 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3 |
copy number gain |
not specified [RCV003986663] |
Chr6:131569837..145572239 [GRCh37]
Chr6:6q23.2-24.2 |
pathogenic |
| GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 |
copy number gain |
not specified [RCV003986631] |
Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.524A>G (p.Tyr175Cys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003870330] |
Chr6:137204354 [GRCh38]
Chr6:137525491 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.374-9C>T |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003869149] |
Chr6:137204513 [GRCh38]
Chr6:137525650 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.1238A>T (p.Asp413Val) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003818281] |
Chr6:137198263 [GRCh38]
Chr6:137519400 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.10C>T (p.Leu4Phe) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003863842] |
Chr6:137219318 [GRCh38]
Chr6:137540455 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.1235T>C (p.Phe412Ser) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003864082] |
Chr6:137198266 [GRCh38]
Chr6:137519403 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.200+13C>T |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003857100] |
Chr6:137206950 [GRCh38]
Chr6:137528087 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.927G>C (p.Thr309=) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003859950] |
Chr6:137198574 [GRCh38]
Chr6:137519711 [GRCh37]
Chr6:6q23.3 |
likely benign |
| NM_000416.3(IFNGR1):c.20T>C (p.Leu7Pro) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003821318]|not provided [RCV004767486] |
Chr6:137219308 [GRCh38]
Chr6:137540445 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.218G>A (p.Trp73Ter) |
single nucleotide variant |
not provided [RCV003887366] |
Chr6:137206291 [GRCh38]
Chr6:137527428 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NM_000416.3(IFNGR1):c.659T>G (p.Val220Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004635610] |
Chr6:137203573 [GRCh38]
Chr6:137524710 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.64G>A (p.Ala22Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004635611] |
Chr6:137219264 [GRCh38]
Chr6:137540401 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NC_000006.11:g.(?_135606783)_(138202456_?)del |
deletion |
Peroxisome biogenesis disorder 9B [RCV004578717] |
Chr6:135606783..138202456 [GRCh37]
Chr6:6q23.3 |
pathogenic |
| NC_000006.11:g.(?_137143759)_(138202456_?)dup |
duplication |
not provided [RCV004578841] |
Chr6:137143759..138202456 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.85+3951_85+3953del |
microsatellite |
IFNGR1-related disorder [RCV004754004] |
Chr6:137215290..137215292 [GRCh38]
Chr6:137536427..137536429 [GRCh37]
Chr6:6q23.3 |
benign |
| NM_000416.3(IFNGR1):c.547-1G>C |
single nucleotide variant |
not provided [RCV004727575] |
Chr6:137203686 [GRCh38]
Chr6:137524823 [GRCh37]
Chr6:6q23.3 |
not provided |
| NM_000416.3(IFNGR1):c.85+1G>T |
single nucleotide variant |
Immunodeficiency 27A [RCV003338155] |
Chr6:137219242 [GRCh38]
Chr6:137540379 [GRCh37]
Chr6:6q23.3 |
likely pathogenic |
| GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1 |
copy number loss |
not provided [RCV001249247] |
Chr6:135936688..140660269 [GRCh37]
Chr6:6q23.3-24.1 |
not provided |
| NM_000416.3(IFNGR1):c.466G>A (p.Glu156Lys) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV002241643]|not provided [RCV004692345] |
Chr6:137204412 [GRCh38]
Chr6:137525549 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| Single allele |
deletion |
Autoinflammatory syndrome, familial, Behcet-like [RCV002247731] |
Chr6:134838331..142160056 [GRCh38]
Chr6:6q23.3-24.1 |
pathogenic |
| NM_000416.3(IFNGR1):c.586G>A (p.Asp196Asn) |
single nucleotide variant |
Disseminated atypical mycobacterial infection [RCV003117077] |
Chr6:137203646 [GRCh38]
Chr6:137524783 [GRCh37]
Chr6:6q23.3 |
uncertain significance |
| NM_000416.3(IFNGR1):c.585T>A (p.Cys195Ter) |
single nucleotide variant |
not provided [RCV003146170] |
Chr6:137203647 [GRCh38]
Chr6:137524784 [GRCh37]
Chr6:6q23.3 |
likely pathogenic |
