Full data view for gene IFNGR2

Information The variants shown are described using the NM_005534.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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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.(?_-648)_(73+1_74-1)del r.? p.0? Both (homozygous) - pathogenic g.? - exon 1 deletion - IFNGR2_000024 - PubMed: Holzer 2013 - - Unknown - - - 0 - ? ? - - IMD-28 - PubMed: Holzer 2013 - F - (Germany) - - 0 - - 1 LOVD
+/+? - c.? r.74_206del p.Asp25Alafs*14 Both (homozygous) - pathogenic (recessive) g.? - c.74_216del, p.Asp25Alafs*38 - IFNGR2_000022 splice out exon 2 PubMed: Tesi 2015 - - Unknown - - - 0 - RNA SEQ - - IMD-28 - PubMed: Tesi 2015 - F yes Portugal - 4m15d 0 - - 1 LOVD
-?/. - c.37C>T r.(?) p.(Leu13Phe) Unknown - likely benign g.34775886C>T g.33403580C>T IFNGR2(NM_001329128.1):c.37C>T (p.L13F) - IFNGR2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.73+26_73+35dup r.(=) p.(=) Unknown - likely benign g.34775948_34775957dup g.33403642_33403651dup IFNGR2(NM_005534.3):c.73+21_73+30dupCGCGGCGGGA - IFNGR2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.173C>G r.(?) p.(Thr58Arg) Unknown - VUS g.34787294C>G g.33414987C>G - - IFNGR2_000014 nomal 2nd chromosome PubMed: Manry 2011 - rs4986958 Germline - 0-0.129 controls - 0 - ? ? - - JBS - - - ? ? - (not applicable) - - 0 - - 1 LOVD
+/+ 2 c.186del r.(?) p.(Tyr63Thrfs*20) Paternal (confirmed) - pathogenic (dominant) g.34787307del g.33415000del - - IFNGR2_000011 nomal 2nd chromosome; mutation causes haploinsufficiency PubMed: Kong 2013 - - Germline - - - 0 - DNA SEQ - - IMD-28 - PubMed: Kong 2013 - F no Poland - - 0 - - 1 LOVD
-?/-? 2 c.191A>G r.(?) p.(Gln64Arg) Unknown - likely benign g.34787312A>G g.33415005A>G c.191G>A - IFNGR2_000015 - PubMed: Manry 2011 - rs9808753 Germline - 0.121-0.379 in controls - 0 - ? ? - - JBS - - - ? ? - (not applicable) - - 0 - - 1 LOVD
-/? 2 c.191A>G r.(?) p.(Gln64Arg) Maternal (inferred) - benign g.34787312A>G g.33415005A>G - - IFNGR2_000015 - - - rs9808753 Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Louvain de Souza 2017 this patient was previously entered in the database as: UENF - Family 1528 (F1) M yes Brazil - - 0 - - 1 Enrique Medina-Acosta
+?/+? 2 c.194T>G r.(?) p.(Val65Gly) Both (homozygous) - likely pathogenic (recessive) g.34787315T>G g.33415008T>G - - IFNGR2_000025 - unpublished data - Niels Fisker - - Germline - - - 0 - RNA SEQ - - JBTS1 - unpublished data Niels Fisker - M yes Iraq Iraqi Arabs living in Denmark - 0 - - 3 LOVD
?/. - c.211G>A r.(?) p.(Asp71Asn) Unknown - VUS g.34793791G>A - - - IFNGR2_000049 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.211G>A r.(?) p.(Asp71Asn) Unknown - VUS g.34793791G>A - - - IFNGR2_000049 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/+ 3 c.218_219del r.(?) p.(Lys73Metfs*22) Both (homozygous) - pathogenic (recessive) g.34793798_34793799del g.33421491_33421492del 218delAA - IFNGR2_000012 - PubMed: Kong 2013 - - Germline - - - 0 - DNA SEQ - - IMD-28 - PubMed: Kong 2013 - F yes ? (unknown) - - 0 - - 1 LOVD
+/+ 3 c.278_279del r.(?) p.(Glu93Valfs*2) Both (homozygous) - pathogenic (recessive) g.34793858_34793859del g.33421551_33421552del - - IFNGR2_000001 - PubMed: Dorman 1998, OMIM:var0001 - - Germline - - - 0 - RNA SEQ - - IMD-28 - PubMed: Dorman 1998 - M no (United States) - - 0 - - 1 LOVD
-?/. - c.308C>T r.(?) p.(Ala103Val) Unknown - likely benign g.34793888C>T g.33421581C>T IFNGR2(NM_001329128.1):c.365C>T (p.A122V) - IFNGR2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.340C>T r.(?) p.(Arg114Cys) Both (homozygous) - pathogenic (recessive) g.34793920C>T g.33421613C>T - - IFNGR2_000002 - PubMed: Doffinger 2000 - - Germline - - - 0 - RNA SEQ - - IMD-28 - PubMed: Doffinger 2000 - F yes (France) Portuguese - 0 - - 1 LOVD
+/+? 3 c.371C>T r.(?) p.(Ser124Phe) Both (homozygous) - pathogenic (recessive) g.34793951C>T g.33421644C>T - - IFNGR2_000009 partial defect PubMed: Moncada-Velez 2013 - - Germline - - - 0 - DNA SEQ - - IMD-28 - PubMed: Moncada-Velez 2013 - M ? Mexico - - 0 - - 1 LOVD
+/+ 3 c.382_387dup r.(?) p.(Thr128_Met129dup) Both (homozygous) - pathogenic (recessive) g.34793962_34793967dup g.33421655_33421660dup - - IFNGR2_000006 in-frame duplication PubMed: Vogt 2008 - - Germline - - - 0 - ? ? - - IMD-28 - PubMed: Vogt 2008 - F yes (France) Lebanon? - 0 - - 1 LOVD
+/+ 4 c.421G>A r.(?) p.(Gly141Arg) Both (homozygous) - pathogenic (recessive) g.34799199G>A g.33426892G>A - - IFNGR2_000010 partial defect PubMed: Moncada-Velez 2013 - - Germline - - - 0 - DNA SEQ-NG-I - - IMD-28 - PubMed: Moncada-Velez 2013 - M yes Turkey - - 0 - - 1 LOVD
+/+ 4 c.421G>A r.(?) p.(Gly141Arg) Both (homozygous) - pathogenic (recessive) g.34799199G>A g.33426892G>A - - IFNGR2_000010 partial defect PubMed: Moncada-Velez 2013 - - Germline - - - 0 - DNA SEQ-NG-I - - IMD-28 - PubMed: Moncada-Velez 2013 - M yes Turkey - - 0 - - 1 LOVD
?/. - c.422G>A r.(?) p.(Gly141Glu) Unknown - VUS g.34799200G>A g.33426893G>A IFNGR2(NM_005534.3):c.422G>A (p.G141E) - IFNGR2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.439G>A r.(?) p.(Glu147Lys) Unknown - VUS g.34799217G>A g.33426910G>A IFNGR2(NM_001329128.1):c.496G>A (p.E166K) - IFNGR2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.442G>A r.(?) p.(Val148Met) Unknown - VUS g.34799220G>A g.33426913G>A IFNGR2(NM_001329128.2):c.499G>A (p.V167M) - IFNGR2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.466A>C r.(?) p.(Ile156Leu) Unknown - likely benign g.34799244A>C g.33426937A>C IFNGR2(NM_001329128.1):c.523A>C (p.I175L), IFNGR2(NM_005534.3):c.466A>C (p.I156L) - IFNGR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.466A>C r.(?) p.(Ile156Leu) Unknown - likely benign g.34799244A>C g.33426937A>C IFNGR2(NM_001329128.1):c.523A>C (p.I175L), IFNGR2(NM_005534.3):c.466A>C (p.I156L) - IFNGR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.466A>C r.(?) p.(Ile156Leu) Unknown - VUS g.34799244A>C g.33426937A>C - - IFNGR2_000016 - PubMed: Manry 2011 - rs121913208 Germline - 0-0.016 in controls - 0 - ? ? - - JBS - - - ? ? - (not applicable) - - 0 - - 1 LOVD
+/+ 4 c.(503C>A) r.(?) p.(Thr168Asn) Both (homozygous) - pathogenic (recessive) g.34799281C>A g.33426974C>A T168N, mutation not specified - IFNGR2_000005 substitution PubMed: Mansouri 2005 - - Germline - - - 0 - DNA SEQ - - IMD-28 - PubMed: Mansouri 2005 - M yes Iran - - 0 - - 1 LOVD
+/+ 4 c.503C>A r.(?) p.(Thr168Asn) Both (homozygous) - pathogenic (recessive) g.34799281C>A g.33426974C>A - - IFNGR2_000005 substitution PubMed: Vogt 2005, OMIM:var0002 - - Germline - - - 0 - DNA SEQ - - IMD-28 - PubMed: Vogt 2005 - M yes Iran - - 0 - - 1 LOVD
+/+ 4 c.503C>A r.(?) p.(Thr168Asn) Both (homozygous) - pathogenic (recessive) g.34799281C>A g.33426974C>A - - IFNGR2_000005 substitution PubMed: Vogt 2005, OMIM:var0002 - - Germline - - - 0 - DNA SEQ - - IMD-28 - PubMed: Vogt 2005 brother of 15924140-P4 M yes Saudi Arabia - - 0 - - 2 LOVD
-?/. - c.532C>T r.(?) p.(His178Tyr) Unknown - likely benign g.34799310C>T - IFNGR2(NM_001329128.1):c.589C>T (p.H197Y) - IFNGR2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.537C>G r.(?) p.(Tyr179*) Both (homozygous) - pathogenic (recessive) g.34799315C>G g.33427008C>G - - IFNGR2_000020 - PubMed: Martínez-Barricarte 2014 - - Germline - <0.0001 - 0 - DNA SEQ - - IMD-28 - PubMed: Martínez-Barricarte 2014 - M yes Israel Arab 4y6m 0 - - 1 LOVD
-?/. - c.537C>T r.(?) p.(Tyr179=) Unknown - likely benign g.34799315C>T g.33427008C>T IFNGR2(NM_005534.3):c.537C>T (p.Y179=) - IFNGR2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.544A>G r.(?) p.(Lys182Glu) Unknown - VUS g.34799322A>G g.33427015A>G - - IFNGR2_000017 - PubMed: Manry 2011 - rs17878711 Germline - 0-0.04 in controls - 0 - ? ? - - JBS - - - ? ? - (not applicable) - - 0 - - 1 LOVD
-/. - c.561+11C>G r.(=) p.(=) Unknown - benign g.34799350C>G g.33427043C>G IFNGR2(NM_005534.3):c.561+11C>G - IFNGR2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.595T>C r.(?) p.(Leu199=) Unknown - likely benign g.34804517T>C g.33432210T>C IFNGR2(NM_005534.3):c.595T>C (p.L199=) - IFNGR2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.595T>C r.(?) p.(Leu199=) Unknown - likely benign g.34804517T>C g.33432210T>C IFNGR2(NM_005534.3):c.595T>C (p.L199=) - IFNGR2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.610C>T r.(?) p.(Pro204Ser) Unknown - VUS g.34804532C>T g.33432225C>T IFNGR2(NM_001329128.2):c.667C>T (p.P223S) - IFNGR2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.663_689del r.(?) p.(Phe224_Ile232del) Both (homozygous) - pathogenic (recessive) g.34804585_34804611del g.33432278_33432304del 663del27 - IFNGR2_000004 in-frame deletion PubMed: Vogt 2005 - - Germline - - - 0 - RNA SEQ - - IMD-28 - PubMed: Vogt 2005 - M yes Austria - - 0 - - 1 LOVD
+/+ 5 c.663_689del r.(?) p.(Phe224_Ile232del) Both (homozygous) - pathogenic (recessive) g.34804585_34804611del g.33432278_33432304del 663del27 - IFNGR2_000004 in-frame deletion Journal: Furthner 2007 - - Germline - 1(1) - 0 - ? ? - - IMD-28 - Journal: Furthner 2007 - M no Romania - - 0 - - 1 LOVD
+/+ 5 c.679G>A r.(?) p.(Gly227Arg) Both (homozygous) - pathogenic (recessive) g.34804601G>A g.33432294G>A - - IFNGR2_000008 phenotypically complete deficiency (using retroviral expression constructs it was shown to be very severe but with a tiny residual response) PubMed: Kilic 2012 - - Germline - - - 0 - RNA SEQ - - IMD-28 - PubMed: Kilic 2012 - M yes Turkey - - 0 - - 2 LOVD
-?/. - c.685T>C r.(?) p.(Leu229=) Unknown - likely benign g.34804607T>C g.33432300T>C IFNGR2(NM_001329128.1):c.742T>C (p.L248=) - IFNGR2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.705C>A r.(?) p.(Tyr235*) Both (homozygous) ACMG pathogenic g.34804627C>A g.33432320C>A - - IFNGR2_000013 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - IMD-28, hyperplasia, pineal, insulin-resistant diabetes mellitus, somatic abnormalities - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/+ 5 c.705C>A r.(?) p.(Tyr235*) Both (homozygous) - pathogenic (recessive) g.34804627C>A g.33432320C>A Y235X - IFNGR2_000013 mutation inferred, may also be 705C>G PubMed: Kong 2013 - - Germline - - - 0 - ? ? - - IMD-28 - PubMed: Kong 2013 - M yes ? (unknown) - - 0 - - 1 LOVD
?/? 5 c.708A>T r.(?) p.(Glu236Asp) Unknown - VUS g.34804630A>T g.33432323A>T - - IFNGR2_000018 - PubMed: Manry 2011 - rs121913212 Germline - 0-0.008 in controls - 0 - ? ? - - JBS - - - ? ? - (not applicable) - - 0 - - 1 LOVD
-?/. - c.780G>A r.(?) p.(Ser260=) Unknown - likely benign g.34805079G>A g.33432772G>A IFNGR2(NM_001329128.1):c.837G>A (p.S279=) - IFNGR2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.791del r.(?) p.(Gly264Glufs*8) Both (homozygous) - pathogenic (recessive) g.34805090del g.33432783del - - IFNGR2_000003 frameshift PubMed: Rosenzweig 2004 - - Germline - - - 0 - DNA SEQ - - IMD-28 - PubMed: Rosenzweig 2004 sister of 15356149-P2 F yes Qatar - - 0 - - 2 LOVD
-?/. - c.879+18dup r.(=) p.(=) Unknown - likely benign g.34805196dup g.33432889dup IFNGR2(NM_005534.3):c.879+18dupT - IFNGR2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.879+32dup r.(=) p.(=) Unknown - likely benign g.34805210dup g.33432903dup IFNGR2(NM_005534.3):c.879+32dupT - IFNGR2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.889G>A r.(?) p.(Asp297Asn) Unknown - VUS g.34809144G>A g.33436837G>A - - IFNGR2_000019 - PubMed: Manry 2011 - rs121913219 Germline - 0-0.008 in controls - 0 - ? ? - - JBS - - - ? ? - (not applicable) - - 0 - - 1 LOVD
+/+ 7 c.949_950del r.(?) p.(Trp317Glyfs*66) Both (homozygous) - pathogenic (recessive) g.34809204_34809205del g.33436897_33436898del 949delTG - IFNGR2_000007 - PubMed: Toyoda 2010 - - Germline - - - 0 - ? ? - - IMD-28 - PubMed: Toyoda 2010 - M no Japan - - 0 - - 1 LOVD
+/+ 7 c.957dup r.(?) p.(Val320Cysfs*64) Both (homozygous) - pathogenic (recessive) g.34809212dup g.33436905dup c.958insT, p.319Sfs382X - IFNGR2_000021 - PubMed: Martínez-Barricarte 2014 - - Germline - <0.0001 - 0 - DNA SEQ - - IMD-28 - PubMed: Martínez-Barricarte 2014 - F yes (Israel) Palestinian 5y 0 - - 1 LOVD
?/. - c.*30135A>G r.(=) p.(=) Unknown - VUS g.34839404A>G - TMEM50B(NM_006134.7):c.125T>C (p.I42T) - IFNGR2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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