Unique variants in gene STAT1

Information The variants shown are described using the NM_007315.3 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

CpG     

IDbase Accession Number     

mRNA level     

P-domain     

Protein level     

Enzyme activity     

VariO/DNA     

VariO/RNA     

VariO/Protein     

Codon change     

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 - c.63T>C r.(?) benign p.(=) - - - - - - - - - - g.191874667A>G - - - STAT1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.68A>T r.(?) pathogenic p.(Asp23Val) - - - - - - - - - - g.191874662T>A - - - STAT1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 4 c.136G>A r.(?) - p.(Ala46Thr) - - - - - - - - - - g.191873826C>T g.191009100C>T G5151A - STAT1_000024 AR Loss-of-function (LOF) variant PubMed: Kristensen 2011 - - Germline - - - - - Esther van de Vosse
+/+ 1 5 c.372G>C r.274_372del - p.Asp92_Gln124del - - - - - - - - - - g.191872289C>G g.191007563C>G - - STAT1_000012 AR Loss-of-function (LOF) variant.substitution, affects splicing PubMed: Vairo 2011 - - Germline - - - - - Esther van de Vosse
+/+? 1 7 c.488T>G r.(?) - p.(Leu163Arg) - - - - - - - - - - g.191864405A>C g.190999679A>C 876T>G - STAT1_000055 gain-of-function (GOF) variant PubMed: Mekki 2014 - - De novo - - - - - Esther van de Vosse
+/? 1 7 c.493G>C r.(?) - p.(Asp165His) - - - - - - - - - - g.191864400C>G g.190999674C>G DNA change not specified - STAT1_000020 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0017 - - Germline - - - - - Johan den Dunnen
+/., +/? 2 7 c.494A>G r.(?) pathogenic p.(Asp165Gly) - - - - - - - - - - g.191864399T>C g.190999673T>C STAT1(NM_007315.3):c.494A>G (p.D165G), DNA change not specified - STAT1_000017 VKGL data sharing initiative Nederland, gain-of-function (GOF) variant PubMed: Liu 2011, PubMed: Soltesz 2013 OMIM:var0014 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
+/? 1 7 c.508T>A r.(?) - p.(Tyr170Asn) - - - - - - - - - - g.191864385A>T g.190999659A>T DNA change not specified - STAT1_000019 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0016 - - Germline - - - - - Johan den Dunnen
+/+, +/+? 2 7 c.514T>C r.(?) - p.(Phe172Leu) - - - - - - - - - - g.191864379A>G g.190999653A>G - - STAT1_000034 gain-of-function (GOF) variant PubMed: Sampaio 2013, PubMed: Kobbe 2016 - - De novo - - - - - Esther van de Vosse
+/? 1 7 c.520T>C r.(?) - p.(Cys174Arg) - - - - - - - - - - g.191864373A>G g.190999647A>G DNA change not specified - STAT1_000016 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0013 - - Germline - - - - - Johan den Dunnen
+/+ 1 7 c.537C>A r.(?) - p.(Asn179Lys) - - - - - - - - - - g.191864356G>T g.190999630G>T - - STAT1_000037 gain-of-function (GOF) variant PubMed: Soltesz 2013 - - Unknown - - - - - Esther van de Vosse
+/+ 1 8 c.603G>T r.[603g>u, 542_633del] - p.[Lys201Asn, Glu181Glyfs*14] - - - - - - - - - - g.191862973C>A g.190998247C>A - - STAT1_000009 1 more item PubMed: Kong 2010, OMIM:var0007 - - Germline - - - - - Esther van de Vosse
+/+?, +/+ 5 8 c.604A>G r.(?) - p.(Met202Val) - - - - - - - - - - g.191862972T>C g.190998246T>C DNA change not specified - STAT1_000015 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0012, PubMed: Wang 2012, PubMed: Mizoguchi 2014, 1 more item - - Germline, De novo, Unknown - - - - - Johan den Dunnen, Esther van de Vosse
+/. 1 - c.605T>C r.(?) pathogenic p.(Met202Thr) - - - - - - - - - - g.191862971A>G - - - STAT1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+?, +/? 2 8 c.606G>H r.(?) - p.(Met202Ile) - - - - - - - - - - g.191862970C>N g.190998244C>D DNA change not specified - STAT1_000056 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.628A>G r.(?) pathogenic p.(Arg210Gly) - - - - - - - - - - g.191862948T>C - - - STAT1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 8 c.629G>T r.(?) - p.(Arg210Ile) - - - - - - - - - - g.191862947C>A g.190998221C>A - - STAT1_000052 gain-of-function (GOF) variant PubMed: Uzel 2013 - - Unknown - - - - - Esther van de Vosse
+/? 1 8 c.632A>G r.542_633del - p.Glu181Glyfs*14 - - - - - - - - - - g.191862944T>C g.190998218T>C 16034A>G - STAT1_000011 AR Loss-of-function (LOF) variant. substitution, affects splicing PubMed: Kristensen 2011 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.633+6T>A r.(=) likely benign p.(=) - - - - - - - - - - g.191862937A>T - STAT1(NM_007315.3):c.633+6T>A - STAT1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.634-16C>T r.(=) benign p.(=) - - - - - - - - - - g.191862749G>A - STAT1(NM_007315.3):c.634-16C>T - STAT1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.635A>G r.(?) VUS p.(Glu212Gly) - - - - - - - - - - g.191862732T>C - STAT1(NM_007315.3):c.635A>G (p.E212G) - STAT1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 9 c.704A>G r.(?) - p.Glu235Gly - - - - - - - - - - g.191862663T>C g.190997937T>C E235A, E235G in correction - STAT1_000041 gain-of-function (GOF) variant PubMed: Romberg 2013 - - Unknown - - - - - Esther van de Vosse
?/. 1 - c.727C>G r.(?) VUS p.(Gln243Glu) - - - - - - - - - - g.191862640G>C - - - STAT1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/+? 2 10 c.796G>A r.(?) VUS p.(Val266Ile) - - - - - - - - - - g.191859935C>T g.190995209C>T STAT1(NM_007315.3):c.796G>A (p.V266I) - STAT1_000054 VKGL data sharing initiative Nederland, gain-of-function (GOF) variant PubMed: Uzel 2013 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL, Esther van de Vosse
+/., +/?, +/+, +/+? 13 10 c.800C>T r.(?) pathogenic p.(Ala267Val), p.Ala267Val - - - - - - - - - - g.191859931G>A g.190995205G>A STAT1(NM_007315.3):c.800C>T (p.A267V) - STAT1_000008 VKGL data sharing initiative Nederland, gain-of-function (GOF) variant PubMed: van de Veerdonk 2011, OMIM:var0009, PubMed: Liu 2011, OMIM:var0009, PubMed: Soltesz 2013, 5 more items - - CLASSIFICATION record, Germline, De novo, Unknown - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Johan den Dunnen, Esther van de Vosse
+/+?, +/. 2 10 c.812A>C r.(?) pathogenic p.(Gln271Pro) - - - - - - - - - - g.191859919T>G g.190995193T>G DNA change not specified - STAT1_000022 gain-of-function (GOF) variant, VKGL data sharing initiative Nederland PubMed: Liu 2011, OMIM:var0019 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL
+/+ 1 10 c.820C>G r.(?) - p.(Arg274Gly) - - - - - - - - - - g.191859911G>C g.190995185G>C - - STAT1_000033 gain-of-function (GOF) variant PubMed: Sampaio 2013 - - De novo - - - - - Esther van de Vosse
+/?, +/+, +/+?, +?/. 14 10 c.820C>T r.(?) likely pathogenic p.(Arg274Trp), p.Arg274Trp - - - - - - - - - - g.191859911G>A g.190995185G>A 820G>A (reverse sequence) - STAT1_000007 gain-of-function (GOF) variant, VKGL data sharing initiative Nederland PubMed: van de Veerdonk 2011, OMIM:var0008, PubMed: Liu 2011, PubMed: Smeekens 2011, 5 more items - - Germline, Unknown, CLASSIFICATION record - - - - - Johan den Dunnen, Esther van de Vosse, VKGL-NL
+/., +/+?, +/+ 14 10 c.821G>A r.(?) pathogenic p.(Arg274Gln), p.Arg274Gln - - - - - - - - - - g.191859910C>T g.190995184C>T STAT1(NM_007315.3):c.821G>A (p.R274Q), DNA change not specified, not specified - STAT1_000013 VKGL data sharing initiative Nederland, gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0010, PubMed: Hori 2012, PubMed: Soltesz 2013, PubMed: Kataoka 2015, 5 more items - - CLASSIFICATION record, Germline, Unknown - - - - - VKGL-NL_Utrecht, Johan den Dunnen, Esther van de Vosse, VKGL-NL_Rotterdam
+/+? 1 10 c.832A>G r.(?) - p.Lys278Glu - - - - - - - - - - g.191859899T>C g.190995173T>C - - STAT1_000047 gain-of-function (GOF) variant PubMed: Yamazaki 2014 - - De novo - - - - - Esther van de Vosse
+/+ 1 10 c.854A>G r.(?) - p.(Gln285Arg) - - - - - - - - - - g.191859877T>C g.190995151T>C - - STAT1_000038 gain-of-function (GOF) variant PubMed: Soltesz 2013 - - Unknown - - - - - Esther van de Vosse
+/+? 1 10 c.857A>T r.(?) - p.(Lys286Ile) - - - - - - - - - - g.191859874T>A g.190995148T>A DNA change not specified - STAT1_000014 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0011 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.859T>A r.(?) VUS p.(Tyr287Asn) - - - - - - - - - - g.191859872A>T - - - STAT1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 10 c.859T>G r.(?) - p.(Tyr287Asp) - - - - - - - - - - g.191859872A>C g.190995146A>C - - STAT1_000060 gain-of-function (GOF) variant PubMed: Depner 2016 - - Unknown - - - - - Esther van de Vosse
+/+? 2 10 c.862A>G r.(?) - p.(Thr288Ala) - - - - - - - - - - g.191859869T>C g.190995143T>C DNA change not specified - STAT1_000018 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0015 - - Germline - - - - - Johan den Dunnen
+/+? 2 10 c.863C>T r.(?) - p.(Thr288Ile) - - - - - - - - - - g.191859868G>A g.190995142G>A not specified - STAT1_000043 gain-of-function (GOF) variant PubMed: Zheng 2015, PubMed: Lee 2014 - - Unknown - - - - - Esther van de Vosse
+/+? 1 10 c.877C>T r.(?) - p.(Pro293Ser) - - - - - - - - - - g.191859854G>A g.190995128G>A - - STAT1_000059 gain-of-function (GOF) variant PubMed: Depner 2016 - - Germline - - - - - Esther van de Vosse
+/+? 1 10 c.881T>C r.(?) - p.Ile294Thr - - - - - - - - - - g.191859850A>G g.190995124A>G not specified - STAT1_000039 AD loss-of-function (LOF) variant? not experimentally proven PubMed: Sharfe 2014 - - De novo - - - - - Esther van de Vosse
+/+? 1 10 c.894A>C r.(?) - p.(Lys298Asn) - - - - - - - - - - g.191859837T>G g.190995111T>G - - STAT1_000045 gain-of-function (GOF) variant PubMed: Martinez-Martinez 2015 - - De novo - - - - - Esther van de Vosse
-?/. 1 - c.944+54C>T r.(=) likely benign p.(=) - - - - - - - - - - g.191859733G>A - STAT1(NM_007315.3):c.944+54C>T - STAT1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 11 c.958G>C r.(?) - p.(Glu320Gln) - - - - - - - - - - g.191856033C>G g.190991307C>G - - STAT1_000023 AD loss-of-function (LOF) variant PubMed: Chapgier 2006b, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
+/+? 1 11 c.970T>C r.(?) - p.Cys324Arg - - - - - - - - - - g.191856021A>G g.190991295A>G not specified - STAT1_000040 AD loss-of-function (LOF) variant PubMed: Sharfe 2014 - - De novo - - - - - Esther van de Vosse
+/+? 1 11 c.986C>T r.(?) - p.(Pro329Leu) - - - - - - - - - - g.191856005G>A g.190991279G>A - - STAT1_000050 gain-of-function (GOF) variant PubMed: Mizoguchi 2014 - - Unknown - - - - - Esther van de Vosse
-?/. 2 - c.990G>A r.(?) likely benign p.(=) - - - - - - - - - - g.191856001C>T - STAT1(NM_007315.3):c.990G>A (p.Q330=) - STAT1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+ 1 12 c.1057G>A r.(?) - p.(Glu353Lys) - - - - - - - - - - g.191854381C>T g.190989655C>T - - STAT1_000032 gain-of-function (GOF) variant PubMed: Sampaio 2013 - - De novo - - - - - Esther van de Vosse
+/+? 1 12 c.1060C>A r.(?) - p.(Leu354Met) - - - - - - - - - - g.191854378G>T g.190989652G>T - - STAT1_000049 gain-of-function (GOF) variant PubMed: Mizoguchi 2014 - - Unknown - - - - - Esther van de Vosse
+/+? 1 12 c.1073T>G r.(?) - p.(Leu358Trp) - - - - - - - - - - g.191854365A>C g.190989639A>C - - STAT1_000053 gain-of-function (GOF) variant PubMed: Uzel 2013 - - Unknown - - - - - Esther van de Vosse
+/+? 1 12 c.1074G>T r.(?) - p.(Leu358Phe) - - - - - - - - - - g.191854364C>A g.190989638C>A - - STAT1_000058 gain-of-function (GOF) variant PubMed: Lee 2014 - - De novo - - - - - Esther van de Vosse
-/. 1 - c.1097+10C>G r.(=) benign p.(=) - - - - - - - - - - g.191854331G>C - STAT1(NM_007315.3):c.1097+10C>G - STAT1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 13 c.1110G>C r.(?) - p.Glu370Asp - - - - - - - - - - g.191851782C>G g.190987056C>G - - STAT1_000042 gain-of-function (GOF) variant PubMed: Kumar 2014 - - Unknown - - - - - Esther van de Vosse
-?/. 1 - c.1128-33G>T r.(=) likely benign p.(=) - - - - - - - - - - g.191851706C>A - - - STAT1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 14 c.1151G>A r.(?) - p.Gly384Asp - - - - - - - - - - g.191851650C>T g.190986924C>T text 1150G>A, in Fig 1151G>A - STAT1_000048 gain-of-function (GOF) variant PubMed: Yamazaki 2014 - - Unknown - - - - - Esther van de Vosse
+/+? 1 14 c.1154C>A r.(?) - p.(Thr385Lys) - - - - - - - - - - g.191851647G>T g.190986921G>T - - STAT1_000063 gain-of-function (GOF) variant PubMed: Depner 2016 - - Unknown - - - - - Esther van de Vosse
+/., +/+?, +/+ 16 14 c.1154C>T r.(?) pathogenic p.(Thr385Met), p.Thr385Met - - - - - - - - - - g.191851647G>A g.190986921G>A STAT1(NM_007315.3):c.1154C>T (p.T385M), C1154T - STAT1_000027 VKGL data sharing initiative Nederland, gain-of-function (GOF) variant, loss-of-function (LOF) variant PubMed: Takezaki 2012, PubMed: Sampaio 2013, PubMed: Soltesz 2013, PubMed: Sharfe 2014, 4 more items - - CLASSIFICATION record, De novo, Unknown - - - - - VKGL-NL, Esther van de Vosse
-?/. 1 - c.1155G>A r.(?) likely benign p.(=) - - - - - - - - - - g.191851646C>T - STAT1(NM_007315.3):c.1155G>A (p.T385=) - STAT1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 2 14 c.1159A>G r.(?) - p.(Thr387Ala) - - - - - - - - - - g.191851642T>C g.190986916T>C not specified - STAT1_000044 gain-of-function (GOF) muation, gain-of-function (GOF) variant PubMed: Giardino 2016, PubMed: Higgins 2015 - - De novo, Unknown - - - - - Esther van de Vosse
+?/., +/+? 2 14 c.1162A>G r.(?) likely pathogenic p.(Lys388Glu) - - - - - - - - - - g.191851639T>C g.190986913T>C STAT1(NM_007315.3):c.1162A>G (p.K388E) - STAT1_000061 VKGL data sharing initiative Nederland, gain-of-function (GOF) variant PubMed: Depner 2016 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL, Esther van de Vosse
+/+? 1 14 c.1169T>C r.(?) - p.(Met390Thr) - - - - - - - - - - g.191851632A>G g.190986906A>G - - STAT1_000051 gain-of-function (GOF) variant PubMed: Mizoguchi 2014 - - Unknown - - - - - Esther van de Vosse
+/+? 2 14 c.1189A>G r.(?) - p.(Asn397Asp) - - - - - - - - - - g.191851612T>C g.190986886T>C N397D - STAT1_000036 gain-of-function (GOF) variant PubMed: Aldave 2013, PubMed: Depner 2016 - - De novo, Germline - - - - - Esther van de Vosse
+/+? 1 14 c.1199T>A r.(?) - p.Leu400Gln - - - - - - - - - - g.191851602A>T g.190986876A>T - - STAT1_000046 gain-of-function (GOF) variant PubMed: Zerbe 2016 - - Unknown - - - - - Esther van de Vosse
+/+, +/+? 2 14 c.1211T>A r.(?) - p.(Phe404Tyr) - - - - - - - - - - g.191851590A>T g.190986864A>T - - STAT1_000035 gain-of-function (GOF) variant PubMed: Al Rushood 2013, PubMed: Depner 2016 - - De novo, Germline - - - - - Esther van de Vosse
+?/. 1 - c.1216C>A r.(?) likely pathogenic p.(His406Asn) - - - - - - - - - - g.191851585G>T - STAT1(NM_007315.3):c.1216C>A (p.H406N) - STAT1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1222-14T>G r.(=) likely benign p.(=) - - - - - - - - - - g.191850400A>C - STAT1(NM_007315.3):c.1222-14T>G - STAT1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1222-5T>C r.spl? likely benign p.? - - - - - - - - - - g.191850391A>G - STAT1(NM_007315.3):c.1222-5T>C (p.?, ) - STAT1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.1232A>T r.(?) VUS p.(Glu411Val) - - - - - - - - - - g.191850376T>A - STAT1(NM_007315.3):c.1232A>T (p.E411V) - STAT1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1233A>T r.(?) VUS p.(Glu411Asp) - - - - - - - - - - g.191850375T>A - STAT1(NM_007315.3):c.1233A>T (p.E411D) - STAT1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.1263+7G>A r.(=) likely benign, benign p.(=) - - - - - - - - - - g.191850338C>T - STAT1(NM_007315.3):c.1263+7G>A - STAT1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.1347+8T>G r.(=) likely benign p.(=) - - - - - - - - - - g.191849028A>C - STAT1(NM_007315.3):c.1347+8T>G - STAT1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.1379A>T r.(?) VUS p.(Asn460Ile) - - - - - - - - - - g.191848435T>A - STAT1(NM_007315.3):c.1379A>T (p.N460I) - STAT1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 17 c.1389G>T r.(?) - p.(Gln463His) - - - - - - - - - - g.191848425C>A g.190983699C>A - - STAT1_000005 AD loss-of-function (LOF) variant PubMed: Chapgier 2006b, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/+? 1 17 c.1398C>G r.(?) - p.(Ser466Arg) - - - - - - - - - - g.191848416G>C g.190983690G>C - - STAT1_000062 gain-of-function (GOF) variant PubMed: Depner 2016 - - Unknown - - - - - Esther van de Vosse
-/. 1 - c.1446+162T>C r.(=) benign p.(=) - - - - - - - - - - g.191848206A>G - STAT1(NM_007315.3):c.1446+162T>C - STAT1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 21 c.1760_1761del r.(?) - p.(Glu587Alafs*18) - - - - - - - - - - g.191843694_191843695del g.190978968_190978969del 1757-1758delAG - STAT1_000025 AR loss-of-function (LOF) variant PubMed: Dupuis 2003 - - Germline - - - - - Esther van de Vosse
-?/. 1 - c.1765G>T r.(?) likely benign p.(Ala589Ser) - - - - - - - - - - g.191843690C>A - STAT1(NM_007315.3):c.1765G>T (p.(Ala589Ser)) - STAT1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 21 c.1799T>C r.(?) - p.(Leu600Pro) - - - - - - - - - - g.191843656A>G g.190978930A>G - - STAT1_000026 AR loss-of-function (LOF) variant PubMed: Dupuis 2003 - - Germline - - - - - Esther van de Vosse
-?/. 1 - c.1872C>T r.(?) likely benign p.(=) - - - - - - - - - - g.191843583G>A - STAT1(NM_007315.3):c.1872C>T (p.G624=) - STAT1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1874-8C>T r.(=) benign p.(=) - - - - - - - - - - g.191841759G>A - STAT1(NM_007315.3):c.1874-8C>T - STAT1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+/+? 1 22 c.1885C>T r.(?) - p.(His629Tyr) - - - - - - - - - - g.191841740G>A g.190977014G>A - - STAT1_000057 gain-of-function (GOF) variant PubMed: Sobh 2016 - - De novo - - - - - Esther van de Vosse
+/+? 1 22 c.1909A>G r.(?) - p.(Lys637Glu) - - - - - - - - - - g.191841716T>C g.190976990T>C - - STAT1_000029 AD loss-of-function (LOF) variant PubMed: Tsumura 2012 - - Unknown - - - - - Esther van de Vosse
+/+ 1 22 c.1927dupA r.(?) - p.(Thr643Asnfs*4) - - - - - - - - - - g.191841698dupT g.190976972dupT 1928insA - STAT1_000004 AR loss-of-function (LOF) variant PubMed: Chapgier 2006a - - Germline - - - - - Esther van de Vosse
?/. 1 - c.1957G>A r.(?) VUS p.(Val653Ile) - - - - - - - - - - g.191841668C>T - - - STAT1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 22 c.1961T>A r.(?) - p.(Met654Lys) - - - - - - - - - - g.191841664A>T g.190976938A>T - - STAT1_000030 AD loss-of-function (LOF) variant PubMed: Sampaio 2012 - - De novo - - - - - Esther van de Vosse
+?/. 1 - c.1973A>G r.(?) likely pathogenic p.(Asn658Ser) - - - - - - - - - - g.191841652T>C - STAT1(NM_139266.2):c.1973A>G (p.N658S) - STAT1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1975_1986del r.(?) VUS p.(Ile659_Asn662del) - - - - - - - - - - g.191841647_191841658del - - - STAT1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+? 1 22 c.2018A>G r.(?) - p.(Lys673Arg) - - - - - - - - - - g.191841607T>C g.190976881T>C - - STAT1_000028 AD loss-of-function (LOF) variant PubMed: Tsumura 2012 - - Germline - - - - - Esther van de Vosse
+/+?, +/+ 2 23 c.2086C>T r.[2060_2135del, 2086c>u] - p.[Ala687Valfs*26, Pro696Ser], p.[Ala687Valfs*26*, Pro696Ser] - - - - - - - - - - g.191840587G>A g.190975861G>A C2086T, P696S - STAT1_000006 AR loss-of-function (LOF) variantAffects splicing; mRNA containing exon 23 severely reduced, 1 more item PubMed: Chapgier 2009, PubMed: Averbuch 2011 - - Germline - - - - - Esther van de Vosse
+/+ 1 23 c.2102A>G r.(?) - p.(Tyr701Cys) - - - - - - - - - - g.191840571T>C g.190975845T>C - - STAT1_000031 AD loss-of-function (LOF) variant PubMed: Hirata 2013 - - Germline - - - - - Esther van de Vosse
+?/. 1 - c.2114A>T r.(?) likely pathogenic p.(Glu705Val) - - - - - - - - - - g.191840559T>A - - - STAT1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 2 23 c.2117T>C r.(?) - p.(Leu706Ser) - - - - - - - - - - g.191840556A>G g.190975830A>G 2116T>C - STAT1_000001 AD Loss-of-function (LOF) variant; de novo, in patient, loss-of-function (LOF) variant PubMed: Dupuis 2001, OMIM:var0001 - - De novo, Germline - - - - - Johan den Dunnen
-/. 1 - c.2238+17G>T r.(=) benign p.(=) - - - - - - - - - - g.191839539C>A - STAT1(NM_007315.3):c.2238+17G>T - STAT1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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