Full data view for gene IFNGR1

Information The variants shown are described using the NM_000416.2 transcript reference sequence.

439 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 1 c.-56T>C r.(?) p.(=) Unknown - benign g.137540520A>G g.137219383A>G - - IFNGR1_000341 variant was found to be associated with chronic hepatitis B virus infection {PMID19488747:Zhou 2009}, with antibody production against Helicobacter Pylori {PMID12516030:Thye 2003}, and with increased risk for Tuberculosis {PMID16690980:Cooke 2006} and {PMID17431682:Stein 2007}.This variant is also associated with outcome of or susceptibility to various other diseases. - - rs2234711 Unknown - 0.498 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 1_7 c.0 r.0 p.0 Both (homozygous) - pathogenic (recessive) g.137173766_137292992del g.136852627_136971853del complete IFNGR1 deletion - IFNGR1_000039 The first and last nucleotides of the deletion are: 137,173,766 and 137,292,992 H. sapiens chromosome 6, GRCh38.p2 Primary Assembly PubMed: de Vor 2016 - - Germline - - - 0 - DNA SEQ - - IMD-27A - PubMed: de Vor 2016 1 family, 3 patients F yes Netherlands Turkey - 0 - - 3 LOVD
+/+ 1_7 c.0 r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.137474623_137552245del - - - IFNGR1_000039 - PubMed: Bossi 2020 - - Germline - - - 0 - DNA ? - - IMD-27A III.1 PubMed: Bossi 2020 - M no Italy - - 0 - - 1 Esther van de Vosse
+/? - c.? r.(?) p.? Paternal (confirmed) - pathogenic g.? - 310C>A but 310=G so not correct - LAMA2_000000 310C>A but 310=G so not correct PubMed: Ying 2019 - - Germline - - - 0 - DNA ? - - IMD-27A P23 PubMed: Ying 2019 - F no China - >07y 0 - - 1 Esther van de Vosse
+/+ 1 c.2T>A r.(?) p.(Met1Lys) Both (homozygous) - pathogenic (recessive) g.137540463A>T g.137219326A>T - - IFNGR1_000031 severe partial mutation. depending on cell type M1K may be a leaky start site PubMed: Kong 2010 - - Germline - - - 0 - DNA SEQ - - IMD-27A - PubMed: Kong 2010 - F yes Finland - - 0 - - 1 LOVD
?/? 1 c.2T>G r.(?) p.Met1Arg Unknown - VUS g.137540463A>C g.137219326A>C - - IFNGR1_000340 - - - rs387906593 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 1 c.4G>A r.(?) p.Ala2Thr Unknown - VUS g.137540461C>T g.137219324C>T - - IFNGR1_000339 - - - rs1018508960 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 1 c.5C>G r.(?) p.Ala2Gly Unknown - VUS g.137540460G>C g.137219323G>C - - IFNGR1_000338 - - - rs121913172 Unknown - 0.0002 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 1 c.5C>T r.(?) p.(Ala2Val) Unknown - VUS g.137540460G>A g.137219323G>A - - IFNGR1_000001 polymorphism?; effect not determinedrs121913172 {dbSNP121913172} PubMed: Manry 2011 - - Unknown - 0.008 - 0 - DNA SEQ - - Healthy/Control - - - - - Japan - - 0 - - 1 LOVD
+?/? 1 c.5C>T r.(?) p.(Ala2Val) Unknown - likely pathogenic g.137540460G>A g.137219323G>A - - IFNGR1_000047 - PubMed: Manry 2011 - rs121913172 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 1 c.9C>G r.(?) p.Leu3Leu Unknown - VUS g.137540456G>C g.137219319G>C - - IFNGR1_000337 - - - rs773885039 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 1 c.12C>T r.(?) p.Leu4Leu Unknown - VUS g.137540453G>A g.137219316G>A - - IFNGR1_000336 - - - rs770546541 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 1 c.13T>C r.(?) p.Phe5Leu Unknown - VUS g.137540452A>G g.137219315A>G - - IFNGR1_000335 - - - rs749066245 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 1 c.25C>G r.(?) p.Leu9Val Unknown - VUS g.137540440G>C g.137219303G>C - - IFNGR1_000334 - - - rs777571593 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 1 c.25del r.(?) p.Val10Serfs*5 Both (homozygous) - pathogenic (recessive) g.137540443del g.137219306del 22delC - IFNGR1_000006 - PubMed: Holland 1998 - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Holland 1998 PubMed: Bax 2013 1 family, 1 patients +1 deceased sib M yes (Norway) Pakistan: Punjab region - 0 - - 1 LOVD
?/? 1 c.26T>A r.(?) p.Leu9His Unknown - VUS g.137540439A>T g.137219302A>T - - IFNGR1_000333 - - - rs201275515 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.30C>T r.(?) p.Val10Val Unknown - VUS g.137540435G>A g.137219298G>A - - IFNGR1_000332 - - - rs748134660 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.31A>T r.(?) p.Met11Leu Unknown - VUS g.137540434T>A g.137219297T>A - - IFNGR1_000331 - - - rs781270900 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.38G>T r.(?) p.Gly13Val Unknown - VUS g.137540427C>A g.137219290C>A - - IFNGR1_000330 - - - rs559569459 Unknown - 0.0004 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
-/- 1 c.40G>A r.(?) p.(Val14Met) Unknown - benign g.137540425C>T g.137219288C>T - - IFNGR1_000040 polymorphism, functional analysis: {PMID20015550:van de Wetering 2010} and {PMID26343451:Gao 2015} - - rs11575936 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.42G>A r.(?) p.Val14Val Unknown - VUS g.137540423C>T g.137219286C>T - - IFNGR1_000328 - - - rs17181471 Unknown - 0.0044 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.46A>C r.(?) p.Arg16Arg Unknown - VUS g.137540419T>G g.137219282T>G - - IFNGR1_000327 - - - rs758608616 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.48G>A r.(?) p.Arg16Arg Unknown - VUS g.137540417C>T g.137219280C>T - - IFNGR1_000326 - - - rs11575931 Unknown - 0.0036 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
-?/. - c.48G>A r.(?) p.(Arg16=) Unknown - likely benign g.137540417C>T - IFNGR1(NM_000416.2):c.48G>A (p.R16=) - IFNGR1_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.52G>A r.(?) p.Glu18Lys Unknown - VUS g.137540413C>T g.137219276C>T - - IFNGR1_000325 effect under evaluation - - rs868340562 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.58G>C r.(?) p.Gly20Arg Unknown - VUS g.137540407C>G g.137219270C>G - - IFNGR1_000324 - - - rs765685150 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.63C>T r.(?) p.Thr21Thr Unknown - VUS g.137540402G>A g.137219265G>A - - IFNGR1_000323 - - - rs762138261 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 1 c.65C>T r.(?) p.Ala22Val Unknown - VUS g.137540400G>A g.137219263G>A - - IFNGR1_000322 - - - rs754412960 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.73G>C r.(?) p.Gly25Arg Unknown - VUS g.137540392C>G g.137219255C>G - - IFNGR1_000321 - - - rs369659162 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 1 c.76C>T r.(?) p.Pro26Ser Unknown - VUS g.137540389G>A g.137219252G>A - - IFNGR1_000320 - - - rs867829701 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.77C>T r.(?) p.Pro26Leu Unknown - VUS g.137540388G>A g.137219251G>A - - IFNGR1_000319 - - - rs768232887 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 1 c.80C>T r.(?) p.Ser27Phe Unknown - VUS g.137540385G>A g.137219248G>A - - IFNGR1_000318 - - - rs770509341 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.81C>T r.(?) p.Ser27Ser Unknown - VUS g.137540384G>A g.137219247G>A - - IFNGR1_000317 - - - rs762714191 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 1 c.84A>G r.(?) p.Ser28Ser Unknown - VUS g.137540381T>C g.137219244T>C - - IFNGR1_000316 - - - rs201996266 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
-/. - c.85+10T>C r.(=) p.(=) Unknown - benign g.137540370A>G g.137219233A>G IFNGR1(NM_000416.2):c.85+10T>C - IFNGR1_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.86-1_93del r.spl? p.? Paternal (confirmed) - pathogenic g.137528207_137528215del - - - IFNGR1_000349 - PubMed: Bossi 2020 - - Germline - - - 0 - DNA ? - - IMD-27A III.1 PubMed: Bossi 2020 - M no Italy - - 0 - - 1 Esther van de Vosse
?/-? 2 c.92C>G r.(?) p.Thr31Arg Unknown - VUS g.137528208G>C g.137207071G>C - - IFNGR1_000315 - - - rs370074491 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 2 c.93A>T r.(?) p.Thr31Thr Unknown - VUS g.137528207T>A g.137207070T>A - - IFNGR1_000314 - - - rs771850288 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 2 c.96A>C r.(?) p.Pro32Pro Unknown - VUS g.137528204T>G g.137207067T>G - - IFNGR1_000313 - - - rs745988398 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 2 c.100A>G r.(?) p.Asn34Asp Unknown - VUS g.137528200T>C g.137207063T>C - - IFNGR1_000312 - - - rs555180897 Unknown - 0.0004 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
-?/. - c.100A>G r.(?) p.(Asn34Asp) Unknown - likely benign g.137528200T>C - IFNGR1(NM_000416.2):c.100A>G (p.N34D) - IFNGR1_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.104_107dup r.(?) p.(Ile37Tyrfs*3) Paternal (confirmed) - pathogenic (recessive) g.137528193_137528196dup g.137207056_137207059dup 107ins4 - IFNGR1_000007 - PubMed: Altare 1998 - - Germline - - - 0 - DNA SEQ - - IMD-27A - PubMed: Altare 1998 PubMed: Pierre-Audigier 1997 1 family, 1 patients+3 deceased sibs F no Italy - - 0 - - 1 LOVD
+/+ 2 c.105dup r.(?) p.(Thr36Tyrfs*3) Both (homozygous) - pathogenic (recessive) g.137528196dup g.137207059dup 105insT - IFNGR1_000023 - PubMed: Dorman 2004 - - Germline - - - 0 - DNA SEQ - - IMD-27A - PubMed: Dorman 2004 1 family, 2 patients M ? Turkey - - 0 - - 2 LOVD
+/+ 2 c.105dup r.(?) p.(Thr36Tyrfs*3) Both (homozygous) - pathogenic g.137528196dup g.137207059dup 106insT - IFNGR1_000023 - PubMed: Edeer Karaca 2012 - - Germline - - - 0 - DNA SEQ - - IMD-27A - PubMed: Edeer Karaca 2012 - M yes Turkey - - 0 - - 1 LOVD
+/+ 2 c.106_107insT r.(?) p.(Thr36Ilefs*3) Parent #1 - pathogenic (recessive) g.137528193_137528194insA g.137207056_137207057insA - - IFNGR1_000025 - PubMed: Dorman 2004 - - Germline - - - 0 - DNA SEQ - - IMD-27A - PubMed: Dorman 2004 1 family, 2 patients M ? Greece - - 0 - - 2 LOVD
?/+? 2 c.110T>C r.(?) p.Ile37Thr Unknown - VUS g.137528190A>G g.137207053A>G - - IFNGR1_000311 - - - rs945137618 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 2 c.110T>C r.(?) p.Ile37Thr Maternal (confirmed) - pathogenic g.137528190A>G g.137207053A>G - - IFNGR1_000311 - E. van de Vosse -unpublished data - - Germline - - - 0 - RNA SEQ - - IMD-27A - E. van de Vosse -unpublished data - M no Germany - - 0 - - 1 LOVD
+?/. - c.110T>C r.(?) p.(Ile37Thr) Unknown - likely pathogenic g.137528190A>G - IFNGR1(NM_000416.2):c.110T>C (p.I37T) - IFNGR1_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/-? 2 c.111T>C r.(?) p.Ile37Ile Unknown - VUS g.137528189A>G g.137207052A>G - - IFNGR1_000310 - - - rs762424077 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+? 2 c.114_135del r.(?) Ser39Tyrfs*16 Both (homozygous) - pathogenic (recessive) g.137528165_137528186del g.137207028_137207049del - - IFNGR1_000038 (effect according to abstract: Glu38fsX54) PubMed: Wang 2014 - - Germline - - - 0 - ? SEQ - - IMD-27A - PubMed: Wang 2014 - F yes China - - 0 - - 1 LOVD
+/+ - c.114_135del r.(?) p.(Ser39Tyrfs*16) Both (homozygous) - pathogenic g.137528165_137528186del - 114-135del, E38fs - IFNGR1_000038 - - - - Germline - - - 0 - DNA ? - - IMD-27A P25 PubMed: Ying 2019 - F - China - 06y 0 - - 1 Esther van de Vosse
?/-? 2 c.117C>T r.(?) p.Ser39Ser Unknown - VUS g.137528183G>A g.137207046G>A - - IFNGR1_000309 - - - rs770973014 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 2 c.130C>T r.(?) p.Pro44Ser Unknown - VUS g.137528170G>A g.137207033G>A - - IFNGR1_000308 - - - rs749548839 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 2 c.131C>G r.(?) p.Pro44Arg Unknown - VUS g.137528169G>C g.137207032G>C - - IFNGR1_000307 - - - rs866902738 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 2 c.131del r.(?) p.Pro44Leufs*18 Both (homozygous) - pathogenic (recessive) g.137528171del g.137207034del 131delC - IFNGR1_000003 - PubMed: Jouanguy 1996 - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Jouanguy 1996 - F yes Tunisia - - 0 - - 1 LOVD
?/-? 2 c.133A>G r.(?) p.Ile45Val Unknown - VUS g.137528167T>C g.137207030T>C - - IFNGR1_000306 - - - rs777965499 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 2 c.135C>T r.(?) p.Ile45Ile Unknown - VUS g.137528165G>A g.137207028G>A - - IFNGR1_000305 - - - rs148104171 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 2 c.136G>A r.(?) p.Val46Ile Unknown - VUS g.137528164C>T g.137207027C>T - - IFNGR1_000304 - - - rs538147969 Unknown - 0.0008 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 2 c.139T>C r.(?) p.Tyr47His Unknown - VUS g.137528161A>G g.137207024A>G - - IFNGR1_000303 - - - rs781724626 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 2 c.144_153del r.(?) p.Trp48* Unknown - VUS g.137528148_137528157del g.137207011_137207020del - - IFNGR1_000301 - - - rs779191331 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 2 c.152A>G r.(?) p.Gln51Arg Unknown - VUS g.137528148T>C g.137207011T>C - - IFNGR1_000302 - - - rs375024435 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 2 c.156C>T r.(?) p.Ile52Ile Unknown - VUS g.137528144G>A g.137207007G>A - - IFNGR1_000300 - - - rs749976277 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 2 c.159G>A r.(?) p.Met53Ile Unknown - VUS g.137528141C>T g.137207004C>T - - IFNGR1_000299 - - - rs778617419 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 2 c.164A>G r.(?) p.Gln55Arg Unknown - VUS g.137528136T>C g.137206999T>C - - IFNGR1_000298 - - - rs561031447 Unknown - 0.0002 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 2 c.165G>C r.(?) p.Gln55His Unknown - VUS g.137528135C>G g.137206998C>G - - IFNGR1_000297 - - - rs544637873 Unknown - 0.0002 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+? 2 c.166del r.(?) p.Val56Serfs*6 Both (homozygous) - pathogenic g.137528135del g.137206998del - - IFNGR1_000052 - PubMed: Cunningham 2000 - - Germline - - - 0 - DNA SEQ - - IMD-27A - PubMed: Cunningham 2000 father was not available, so child can be homozygous or have a deletion on the other allele M no Canada aboriginal - 0 - - 1 LOVD
?/-? 2 c.167T>G r.(?) p.Val56Gly Unknown - VUS g.137528133A>C g.137206996A>C - - IFNGR1_000296 - - - rs763644961 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 2 c.170del r.(?) p.(Pro57Leufs*5) Both (homozygous) - pathogenic (recessive) g.137528132del g.137206995del 168delC - IFNGR1_000024 - PubMed: Dorman 2004 - - Germline - - - 0 - DNA SEQ - - IMD-27A - PubMed: Dorman 2004 - M ? United States - - 0 - - 1 LOVD
?/-? 2 c.180C>T r.(?) p.Thr60Thr Unknown - VUS g.137528120G>A g.137206983G>A - - IFNGR1_000295 - - - rs760535699 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
-/- 2 c.181G>A r.(?) p.(Val61Ile) Unknown - benign g.137528119C>T g.137206982C>T - - IFNGR1_000041 polymorphism, functional analysis: {PMID20015550:van de Wetering 2010} - - rs17175322 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/. - c.181G>A r.(?) p.(Val61Ile) Unknown - VUS g.137528119C>T - IFNGR1(NM_001363527.1):c.58G>A (p.V20I) - IFNGR1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.182T>A r.(?) p.Val61Glu Parent #1 - pathogenic (recessive) g.137528118A>T g.137206981A>T 182T>A => Val61Gln - IFNGR1_000015 indicated in article as V61Q but should be: V61E PubMed: Jouanguy 2000 - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Jouanguy 2000 - F no (France) French/Portuguese - 0 - - 1 LOVD
?/+? 2 c.182T>C r.(?) p.Val61Ala Unknown - VUS g.137528118A>G g.137206981A>G - - IFNGR1_000293 - - - rs121912715 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 2 c.184G>A r.(?) p.Glu62Lys Unknown - VUS g.137528116C>T g.137206979C>T - - IFNGR1_000292 - - - rs995097591 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 2 c.188T>G r.(?) p.(Val63Gly) Both (homozygous) - pathogenic (recessive) g.137528112A>C g.137206975A>C T188G - IFNGR1_000019 - - - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Allende 2001 - F yes Spain Spain - 0 - - 1 LOVD
+/+ 2 c.188T>G r.(?) p.(Val63Gly) Both (homozygous) - pathogenic g.137528112A>C g.137206975A>C - - IFNGR1_000019 partial defect PubMed: Sologuren 2011 - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Sologuren 2011 1 family, 2 patients M no Spain - - 0 - - 2 LOVD
+/+ 2 c.188T>G r.(?) p.(Val63Gly) Both (homozygous) - pathogenic g.137528112A>C g.137206975A>C - - IFNGR1_000019 partial defect PubMed: Sologuren 2011 - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Sologuren 2011 - F no Spain - - 0 - - 1 LOVD
+/+ 2 c.188T>G r.(?) p.(Val63Gly) Both (homozygous) - pathogenic g.137528112A>C g.137206975A>C T188G - IFNGR1_000019 partial defect PubMed: Sologuren 2011 - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Sologuren 2011 - M no Spain - - 0 - - 1 LOVD
+/+ 2 c.188T>G r.(?) p.(Val63Gly) Both (homozygous) - pathogenic g.137528112A>C g.137206975A>C T188G - IFNGR1_000019 partial defect PubMed: Sologuren 2011 - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Sologuren 2011 - M no Spain - - 0 - - 1 LOVD
+/. - c.188T>G r.(?) p.(Val63Gly) Unknown - pathogenic g.137528112A>C g.137206975A>C IFNGR1(NM_000416.2):c.188T>G (p.V63G) - IFNGR1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.197A>G r.(?) p.(Tyr66Cys) Parent #2 - pathogenic (recessive) g.137528103T>C g.137206966T>C - - IFNGR1_000026 - PubMed: Dorman 2004 - - Germline - - - 0 - DNA SEQ - - IMD-27A - PubMed: Dorman 2004 1 family, 2 patients M ? Greece - - 0 - - 2 LOVD
?/+? 2 c.197A>T r.(?) p.Tyr66Phe Unknown - VUS g.137528103T>A g.137206966T>A - - IFNGR1_000291 - - - rs867775070 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+? 2i c.200+1G>A RNA undetectable p.(splicing?) Maternal (confirmed) - pathogenic (recessive) g.137528099C>T g.137206962C>T - - IFNGR1_000008 - PubMed: Altare 1998 - - Germline - - - 0 - DNA SEQ - - IMD-27A - PubMed: Altare 1998 PubMed: Pierre-Audigier 1997 1 family, 1 patients+3 deceased sibs F no Italy - - 0 - - 1 LOVD
+/+ 2i c.201-2A>G 201-302del p.(Asn70_Lys103del) Both (homozygous) - pathogenic (recessive) g.137527447T>C g.137206310T>C - - IFNGR1_000005 - PubMed: Holland 1998 - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Holland 1998 PubMed: Dorman 1999 - M - (United States) Pakistan (original: Punjab, India) - 0 - - 1 LOVD
+/. - c.201-1G>C r.spl? p.? Unknown - pathogenic g.137527446C>G g.137206309C>G IFNGR1(NM_000416.2):c.201-1G>C - IFNGR1_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ i2 c.201-1G>T r.spl? p.? Both (homozygous) - pathogenic g.137527446C>A - - - IFNGR1_000352 - PubMed: Martinez-Morales 2017 - - Germline - - - 0 - DNA ? - - IMD-27A Patient PubMed: Martinez-Morales 2017 - F - Mexico - >00y03m 0 - - 1 Esther van de Vosse
?/-? 3 c.213A>C r.(?) p.Ser71Ser Unknown - VUS g.137527433T>G g.137206296T>G - - IFNGR1_000290 - - - rs751242205 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 3 c.216A>G r.(?) p.Glu72Glu Unknown - VUS g.137527430T>C g.137206293T>C - - IFNGR1_000289 - - - rs141574133 Unknown - 0.0008 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
-?/. - c.216A>G r.(?) p.(Glu72=) Unknown - likely benign g.137527430T>C g.137206293T>C IFNGR1(NM_000416.2):c.216A>G (p.E72=) - IFNGR1_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/-? 3 c.222T>A r.(?) p.Ile74Ile Unknown - VUS g.137527424A>T g.137206287A>T - - IFNGR1_000288 - - - rs763024620 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 3 c.224A>T r.(?) p.Asp75Gly Unknown - VUS g.137527422T>A g.137206285T>A - - IFNGR1_000287 - - - rs770076728 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 3 c.226G>A r.(?) p.Ala76Thr Unknown - VUS g.137527420C>T g.137206283C>T - - IFNGR1_000286 - - - rs1026353199 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 3 c.227C>T r.(?) p.Ala76Val Unknown - VUS g.137527419G>A g.137206282G>A - - IFNGR1_000285 - - - rs761991376 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 3 c.230G>A r.(?) p.Cys77Tyr Both (homozygous) - pathogenic (recessive) g.137527416C>T g.137206279C>T - - IFNGR1_000014 - PubMed: Jouanguy 2000 - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Jouanguy 2000 PubMed: Camcioglu 2004 1 family, 2 patients F yes Turkey - - 0 - - 2 LOVD
+/+ 3 c.230G>T r.(?) p.(Cys77Phe) Both (homozygous) - pathogenic (recessive) g.137527416C>A g.137206279C>A C77F, muation not specified - IFNGR1_000028 - PubMed: Chantrain 2006 - - Germline - - - 0 - ? ? - - IMD-27A - PubMed: Chantrain 2006 - M yes (Belgium) - - 0 - - 1 LOVD
?/+? 3 c.236A>G r.(?) p.Asn79Ser Unknown - VUS g.137527410T>C g.137206273T>C - - IFNGR1_000284 - - - rs377227464 Unknown - 0.0002 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/-? 3 c.246T>C r.(?) p.His82His Unknown - VUS g.137527400A>G g.137206263A>G - - IFNGR1_000283 - - - rs559991211 Unknown - N.D. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 3 c.250T>C r.(?) p.Tyr84His Unknown - VUS g.137527396A>G g.137206259A>G - - IFNGR1_000282 - - - rs374959677 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 3 c.251A>T r.(?) p.Tyr84Phe Unknown - VUS g.137527395T>A g.137206258T>A - - IFNGR1_000281 - - - rs180680034 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 3 c.254G>A r.(?) p.(Cys85Tyr) Both (homozygous) - pathogenic (recessive) g.137527392C>T g.137206255C>T - - IFNGR1_000027 - PubMed: Noordzij 2007 - - Germline - - - 0 - RNA SEQ - - IMD-27A - PubMed: Noordzij 2007 1 family, 1 patients+3deceased sibs; 2 sibs died after BCG vaccination; 1 after diarrhea (due to Salmonella?) F yes (Netherlands) Pakistan - 0 - - 1 LOVD
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