Unique variants in the IFNGR2 gene

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

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+? 1 1? c.(?_-648)_(73+1_74-1)del r.? p.0? - pathogenic g.? - exon 1 deletion - IFNGR2_000024 - PubMed: Holzer 2013 - - Unknown - - - - - LOVD
+/+? 1 - c.? r.74_206del p.Asp25Alafs*14 - pathogenic (recessive) g.? - c.74_216del, p.Asp25Alafs*38 - IFNGR2_000022 splice out exon 2 PubMed: Tesi 2015 - - Unknown - - - - - LOVD
-?/. 1 - c.37C>T r.(?) p.(Leu13Phe) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.73+26_73+35dup r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
?/? 1 2 c.173C>G r.(?) p.(Thr58Arg) - VUS g.34787294C>G g.33414987C>G - - IFNGR2_000014 nomal 2nd chromosome PubMed: Manry 2011 - rs4986958 Germline - 0-0.129 controls - - - LOVD
+/+ 1 2 c.186del r.(?) p.(Tyr63Thrfs*20) - pathogenic (dominant) g.34787307del g.33415000del - - IFNGR2_000011 nomal 2nd chromosome; mutation causes haploinsufficiency PubMed: Kong 2013 - - Germline - - - - - LOVD
-/?, -?/-? 2 2 c.191A>G r.(?) p.(Gln64Arg) - benign, likely benign g.34787312A>G g.33415005A>G c.191G>A - IFNGR2_000015 - PubMed: Manry 2011 - rs9808753 Germline - 0.121-0.379 in controls - - - Enrique Medina-Acosta
+?/+? 1 2 c.194T>G r.(?) p.(Val65Gly) - likely pathogenic (recessive) g.34787315T>G g.33415008T>G - - IFNGR2_000025 - unpublished data - Niels Fisker - - Germline - - - - - LOVD
?/. 2 - c.211G>A r.(?) p.(Asp71Asn) - VUS g.34793791G>A - - - IFNGR2_000049 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
+/+ 1 3 c.218_219del r.(?) p.(Lys73Metfs*22) - pathogenic (recessive) g.34793798_34793799del g.33421491_33421492del 218delAA - IFNGR2_000012 - PubMed: Kong 2013 - - Germline - - - - - LOVD
+/+ 1 3 c.278_279del r.(?) p.(Glu93Valfs*2) - pathogenic (recessive) g.34793858_34793859del g.33421551_33421552del - - IFNGR2_000001 - PubMed: Dorman 1998, OMIM:var0001 - - Germline - - - - - LOVD
-?/. 1 - c.308C>T r.(?) p.(Ala103Val) - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 3 c.340C>T r.(?) p.(Arg114Cys) - pathogenic (recessive) g.34793920C>T g.33421613C>T - - IFNGR2_000002 - PubMed: Doffinger 2000 - - Germline - - - - - LOVD
+/+? 1 3 c.371C>T r.(?) p.(Ser124Phe) - pathogenic (recessive) g.34793951C>T g.33421644C>T - - IFNGR2_000009 partial defect PubMed: Moncada-Velez 2013 - - Germline - - - - - LOVD
+/+ 1 3 c.382_387dup r.(?) p.(Thr128_Met129dup) - pathogenic (recessive) g.34793962_34793967dup g.33421655_33421660dup - - IFNGR2_000006 in-frame duplication PubMed: Vogt 2008 - - Germline - - - - - LOVD
+/+ 2 4 c.421G>A r.(?) p.(Gly141Arg) - pathogenic (recessive) g.34799199G>A g.33426892G>A - - IFNGR2_000010 partial defect PubMed: Moncada-Velez 2013 - - Germline - - - - - LOVD
?/. 1 - c.422G>A r.(?) p.(Gly141Glu) - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.439G>A r.(?) p.(Glu147Lys) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.442G>A r.(?) p.(Val148Met) - 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 - - - - - VKGL-NL_Groningen
-?/., ?/? 3 4 c.466A>C r.(?) p.(Ile156Leu) - likely benign, VUS 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 PubMed: Manry 2011 - rs121913208 CLASSIFICATION record, Germline - 0-0.016 in controls - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+ 3 4 c.(503C>A), c.503C>A r.(?) p.(Thr168Asn) - pathogenic (recessive) g.34799281C>A g.33426974C>A T168N, mutation not specified - IFNGR2_000005 substitution PubMed: Mansouri 2005, PubMed: Vogt 2005, OMIM:var0002 - - Germline - - - - - LOVD
-?/. 1 - c.532C>T r.(?) p.(His178Tyr) - likely benign g.34799310C>T - IFNGR2(NM_001329128.1):c.589C>T (p.H197Y) - IFNGR2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 4 c.537C>G r.(?) p.(Tyr179*) - pathogenic (recessive) g.34799315C>G g.33427008C>G - - IFNGR2_000020 - PubMed: Martínez-Barricarte 2014 - - Germline - <0.0001 - - - LOVD
-?/. 1 - c.537C>T r.(?) p.(Tyr179=) - 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 - - - - - VKGL-NL_Utrecht
?/? 1 4 c.544A>G r.(?) p.(Lys182Glu) - VUS g.34799322A>G g.33427015A>G - - IFNGR2_000017 - PubMed: Manry 2011 - rs17878711 Germline - 0-0.04 in controls - - - LOVD
-/. 1 - c.561+11C>G r.(=) p.(=) - benign g.34799350C>G g.33427043C>G IFNGR2(NM_005534.3):c.561+11C>G - IFNGR2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.595T>C r.(?) p.(Leu199=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.610C>T r.(?) p.(Pro204Ser) - 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 - - - - - VKGL-NL_Groningen
+/+ 2 5 c.663_689del r.(?) p.(Phe224_Ile232del) - pathogenic (recessive) g.34804585_34804611del g.33432278_33432304del 663del27 - IFNGR2_000004 in-frame deletion Journal: Furthner 2007, PubMed: Vogt 2005 - - Germline - 1(1) - - - LOVD
+/+ 1 5 c.679G>A r.(?) p.(Gly227Arg) - pathogenic (recessive) g.34804601G>A g.33432294G>A - - IFNGR2_000008 1 more item PubMed: Kilic 2012 - - Germline - - - - - LOVD
-?/. 1 - c.685T>C r.(?) p.(Leu229=) - 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 - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 5 c.705C>A r.(?) p.(Tyr235*) ACMG pathogenic, pathogenic (recessive) g.34804627C>A g.33432320C>A Y235X - IFNGR2_000013 mutation inferred, may also be 705C>G PubMed: Kong 2013, PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
?/? 1 5 c.708A>T r.(?) p.(Glu236Asp) - VUS g.34804630A>T g.33432323A>T - - IFNGR2_000018 - PubMed: Manry 2011 - rs121913212 Germline - 0-0.008 in controls - - - LOVD
-?/. 1 - c.780G>A r.(?) p.(Ser260=) - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 6 c.791del r.(?) p.(Gly264Glufs*8) - pathogenic (recessive) g.34805090del g.33432783del - - IFNGR2_000003 frameshift PubMed: Rosenzweig 2004 - - Germline - - - - - LOVD
-?/. 1 - c.879+18dup r.(=) p.(=) - likely benign g.34805196dup g.33432889dup IFNGR2(NM_005534.3):c.879+18dupT - IFNGR2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.879+32dup r.(=) p.(=) - likely benign g.34805210dup g.33432903dup IFNGR2(NM_005534.3):c.879+32dupT - IFNGR2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 1 7 c.889G>A r.(?) p.(Asp297Asn) - VUS g.34809144G>A g.33436837G>A - - IFNGR2_000019 - PubMed: Manry 2011 - rs121913219 Germline - 0-0.008 in controls - - - LOVD
+/+ 1 7 c.949_950del r.(?) p.(Trp317Glyfs*66) - pathogenic (recessive) g.34809204_34809205del g.33436897_33436898del 949delTG - IFNGR2_000007 - PubMed: Toyoda 2010 - - Germline - - - - - LOVD
+/+ 1 7 c.957dup r.(?) p.(Val320Cysfs*64) - pathogenic (recessive) g.34809212dup g.33436905dup c.958insT, p.319Sfs382X - IFNGR2_000021 - PubMed: Martínez-Barricarte 2014 - - Germline - <0.0001 - - - LOVD
?/. 1 - c.*30135A>G r.(=) p.(=) - VUS g.34839404A>G - TMEM50B(NM_006134.7):c.125T>C (p.I42T) - IFNGR2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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