Full data view for gene STAT1

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

168 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

CpG     

IDbase Accession Number     

mRNA level     

P-domain     

Protein level     

Enzyme activity     

VariO/DNA     

VariO/RNA     

VariO/Protein     

Codon change     

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     
-/. - c.63T>C r.(?) p.(Leu21=) - - - - - - - - - - Unknown - benign g.191874667A>G g.191009941A>G - - STAT1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.68A>T r.(?) p.(Asp23Val) - - - - - - - - - - Unknown - pathogenic g.191874662T>A g.191009936T>A - - STAT1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 4 c.136G>A r.(?) p.(Ala46Thr) - - - - - - - - - - Maternal (confirmed) - pathogenic g.191873826C>T g.191009100C>T G5151A - STAT1_000024 AR Loss-of-function (LOF) variant PubMed: Kristensen 2011 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - IMD-31B - {PMID21057861:Kristensen 2011} family, 1 affected F - (Denmark) - - 0 - - 1 Johan den Dunnen
+/+ 5 c.372G>C r.274_372del p.Asp92_Gln124del - - - - - - - - - - Both (homozygous) - pathogenic g.191872289C>G g.191007563C>G - - STAT1_000012 AR Loss-of-function (LOF) variant.substitution, affects splicing PubMed: Vairo 2011 - - Germline - - - 0 - DNA SEQ - - IMD-31B - {PMID21772053:Vairo 2011} family, 1 affected M yes Pakistan - - 0 - - 1 Esther van de Vosse
+/+? 7 c.488T>G r.(?) p.(Leu163Arg) - - - - - - - - - - Unknown - pathogenic g.191864405A>C g.190999679A>C 876T>G - STAT1_000055 gain-of-function (GOF) variant PubMed: Mekki 2014 - - De novo - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Mekki 2014 family, 1 affected F yes Tunisia - - 0 - - 1 Esther van de Vosse
+/? 7 c.493G>C r.(?) p.(Asp165His) - - - - - - - - - - Parent #1 - pathogenic g.191864400C>G g.190999674C>G DNA change not specified - STAT1_000020 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0017 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 1 affected F - Germany - - 0 - - 1 Johan den Dunnen
+/? 7 c.494A>G r.(?) p.(Asp165Gly) - - - - - - - - - - Unknown - pathogenic g.191864399T>C g.190999673T>C DNA change not specified - STAT1_000017 gain-of-function (GOF) variant PubMed: Liu 2011, PubMed: Soltesz 2013 OMIM:var0014 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011, PubMed: Soltesz 2013 family, 1 affected M - Ukraine - - 0 - - 1 Johan den Dunnen
+/. - c.494A>G r.(?) p.(Asp165Gly) - - - - - - - - - - Unknown - pathogenic g.191864399T>C g.190999673T>C STAT1(NM_007315.3):c.494A>G (p.D165G) - STAT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 7 c.508T>A r.(?) p.(Tyr170Asn) - - - - - - - - - - Parent #1 - pathogenic g.191864385A>T g.190999659A>T DNA change not specified - STAT1_000019 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0016 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 1 affected M - Switzerland - - 0 - - 1 Johan den Dunnen
+/+ 7 c.514T>C r.(?) p.(Phe172Leu) - - - - - - - - - - Unknown - pathogenic g.191864379A>G g.190999653A>G - - STAT1_000034 gain-of-function (GOF) variant PubMed: Sampaio 2013 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Sampaio 2013 family, 1 affected F no (United States) - - 0 - - 1 Esther van de Vosse
+/+? 7 c.514T>C r.(?) p.(Phe172Leu) - - - - - - - - - - Unknown - pathogenic g.191864379A>G g.190999653A>G - - STAT1_000034 gain-of-function (GOF) variant PubMed: Kobbe 2016 - - De novo - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Kobbe 2016 family, 1 affected M no Germany - - 0 - - 1 Esther van de Vosse
+/? 7 c.520T>C r.(?) p.(Cys174Arg) - - - - - - - - - - Parent #1 - pathogenic g.191864373A>G g.190999647A>G DNA change not specified - STAT1_000016 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0013 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family with 7 members affected, 1 no genetics - - Germany - - 0 - - 6 Johan den Dunnen
+/+ 7 c.537C>A r.(?) p.(Asn179Lys) - - - - - - - - - - Unknown - pathogenic g.191864356G>T g.190999630G>T - - STAT1_000037 gain-of-function (GOF) variant PubMed: Soltesz 2013 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Soltesz 2013 family, 1 affected F ? Czech Republic - - 0 - - 1 Esther van de Vosse
+/+ 8 c.603G>T r.[603g>u, 542_633del] p.[Lys201Asn, Glu181Glyfs*14] - - - - - - - - - - Both (homozygous) - pathogenic g.191862973C>A g.190998247C>A - - STAT1_000009 AR Loss-of-function (LOF) variant.The aa substitution itself has no effect. The transcript lacking exon 8 does not produce a protein. PubMed: Kong 2010, OMIM:var0007 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - IMD-31B - {PMID20841510:Kong 2010} family, 2 affecteds M - Saudi Arabia - - 0 - - 2 Esther van de Vosse
+/+? 8 c.604A>G r.(?) p.(Met202Val) - - - - - - - - - - Parent #1 - pathogenic g.191862972T>C g.190998246T>C DNA change not specified - STAT1_000015 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0012 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family with 3 members affected, 1 no genetics - - France - - 0 - - 2 Johan den Dunnen
+/+? 8 c.604A>G r.(?) p.(Met202Val) - - - - - - - - - - Parent #1 - pathogenic g.191862972T>C g.190998246T>C DNA change not specified - STAT1_000015 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0012 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 1 affected, 1 no genetics M - France - - 0 - - 1 Johan den Dunnen
+/+ 8 c.604A>G r.(?) p.(Met202Val) - - - - - - - - - - Unknown - pathogenic g.191862972T>C g.190998246T>C - - STAT1_000015 gain-of-function (GOF) variant PubMed: Wang 2012 - - De novo - - - 0 - DNA SEQ-NG-I - - IMD-31C;CANDF-7 - PubMed: Wang 2012 family, 1 affected F no China Han Chinese - 0 - - 1 Esther van de Vosse
+/+? 8 c.604A>G r.(?) p.(Met202Val) - - - - - - - - - - Unknown - pathogenic g.191862972T>C g.190998246T>C - - STAT1_000015 gain-of-function (GOF) variant PubMed: Mizoguchi 2014 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Mizoguchi 2014 family, 1 affected M ? Japan - - 0 - - 1 Esther van de Vosse
+/+? 8 c.604A>G r.(?) p.(Met202Val) - - - - - - - - - - Unknown - pathogenic g.191862972T>C g.190998246T>C - - STAT1_000015 gain-of-function (GOF) variant PubMed: Depner 2016, OMIM:var0012 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Depner 2016 family, 2 affecteds - ? Brazil - - 0 - - 2 Esther van de Vosse
+/. - c.605T>C r.(?) p.(Met202Thr) - - - - - - - - - - Unknown - pathogenic g.191862971A>G g.190998245A>G - - STAT1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 8 c.606G>H r.(?) p.(Met202Ile) - - - - - - - - - - Parent #1 - pathogenic g.191862970C>N g.190998244C>D DNA change not specified - STAT1_000056 gain-of-function (GOF) variant Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Liu 2011, OMIM:var0018 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 1 affected M - Germany - - 0 - - 1 Johan den Dunnen
+/? 8 c.606G>H r.(?) p.(Met202Ile) - - - - - - - - - - Parent #1 - pathogenic g.191862970C>N g.190998244C>D DNA change not specified - STAT1_000056 gain-of-function (GOF) variant Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Liu 2011, OMIM:var0018 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 3 affecteds, 1 no genetics - - France - - 0 - - 2 Johan den Dunnen
+/. - c.628A>G r.(?) p.(Arg210Gly) - - - - - - - - - - Unknown - pathogenic g.191862948T>C g.190998222T>C - - STAT1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 8 c.629G>T r.(?) p.(Arg210Ile) - - - - - - - - - - Unknown - pathogenic g.191862947C>A g.190998221C>A - - STAT1_000052 gain-of-function (GOF) variant PubMed: Uzel 2013 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Uzel 2013 family, 1 affected M ? United States Hispanic - 0 - - 1 Esther van de Vosse
+/? 8 c.632A>G r.542_633del p.Glu181Glyfs*14 - - - - - - - - - - Paternal (confirmed) - pathogenic g.191862944T>C g.190998218T>C 16034A>G - STAT1_000011 AR Loss-of-function (LOF) variant. substitution, affects splicing PubMed: Kristensen 2011 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - IMD-31B - {PMID21057861:Kristensen 2011} family, 1 affected F - (Denmark) - - 0 - - 1 Johan den Dunnen
-?/. - c.633+6T>A r.(=) p.(=) - - - - - - - - - - Unknown - likely benign g.191862937A>T g.190998211A>T STAT1(NM_007315.3):c.633+6T>A - STAT1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.633+6T>A r.(=) p.(=) - - - - - - - - - - Unknown - likely benign g.191862937A>T g.190998211A>T STAT1(NM_007315.3):c.633+6T>A - STAT1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.634-16C>T r.(=) p.(=) - - - - - - - - - - Unknown - benign g.191862749G>A g.190998023G>A STAT1(NM_007315.3):c.634-16C>T - STAT1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635A>G r.(?) p.(Glu212Gly) - - - - - - - - - - Unknown - VUS g.191862732T>C g.190998006T>C STAT1(NM_007315.3):c.635A>G (p.E212G) - STAT1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 9 c.704A>G r.(?) p.Glu235Gly - - - - - - - - - - Unknown - pathogenic g.191862663T>C g.190997937T>C E235A, E235G in correction - STAT1_000041 gain-of-function (GOF) variant PubMed: Romberg 2013 - - Unknown - - - 0 - DNA ? - - IMD-31C;CANDF-7 - PubMed: Romberg 2013 family, 4 affecteds F no United States - - 0 - - 4 Esther van de Vosse
?/. - c.727C>G r.(?) p.(Gln243Glu) - - - - - - - - - - Unknown - VUS g.191862640G>C g.190997914G>C - - STAT1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 10 c.796G>A r.(?) p.(Val266Ile) - - - - - - - - - - Unknown - pathogenic g.191859935C>T g.190995209C>T - - STAT1_000054 gain-of-function (GOF) variant PubMed: Uzel 2013 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Uzel 2013 family, 1 affected M ? United States white - 0 - - 1 Esther van de Vosse
-?/. - c.796G>A r.(?) p.(Val266Ile) - - - - - - - - - - Unknown - likely benign g.191859935C>T g.190995209C>T STAT1(NM_007315.3):c.796G>A (p.V266I) - STAT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 10 c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Parent #1 - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: van de Veerdonk 2011, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: van de Veerdonk 2011 family, 5 affecteds F - United Kingdom (Great Britain) - - 0 - - 5 Johan den Dunnen
+/? 10 c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Parent #1 - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: van de Veerdonk 2011, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: van de Veerdonk 2011 family, 3 affecteds M - United Kingdom (Great Britain) - - 0 - - 3 Johan den Dunnen
+/? 10 c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Parent #1 - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: van de Veerdonk 2011, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: van de Veerdonk 2011 family, 2 affecteds F - Netherlands - - 0 - - 2 Johan den Dunnen
+/? 10 c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Parent #1 - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 2 affecteds, 1 no genetics - - Israel - - 0 - - 2 Johan den Dunnen
+/+ 10 c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Unknown - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: Sampaio 2013, OMIM:var0009 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Sampaio 2013 family, 1 affected F ? United States white - 0 - - 1 Esther van de Vosse
+/+ 10 c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Paternal (inferred) - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: Soltesz 2013 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Soltesz 2013 family, 2 affecteds F ? Czech Republic - - 0 - - 2 Esther van de Vosse
+/+? 10 c.800C>T r.(?) p.Ala267Val - - - - - - - - - - Unknown - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: Nielsen 2015 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Nielsen 2015 family, 1 affected F ? Denmark - - 0 - - 1 Esther van de Vosse
+/+? 10 c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Unknown - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: Mizoguchi 2014 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Mizoguchi 2014 family, 2 affecteds M ? Japan - - 0 - - 2 Esther van de Vosse
+/+? 10 c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Unknown - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: Lee 2014 - - De novo - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Lee 2014 family, 1 affected M ? China - - 0 - - 1 Esther van de Vosse
+/+? 10 c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Unknown - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: Depner 2016, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Depner 2016 family, 4 affecteds - ? United States not specified - 0 - - 4 Esther van de Vosse
+/+? 10 c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Unknown - pathogenic g.191859931G>A g.190995205G>A - - STAT1_000008 gain-of-function (GOF) variant PubMed: Depner 2016, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Depner 2016 family, 3 affecteds - ? Norway - - 0 - - 3 Esther van de Vosse
+/. - c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Unknown - pathogenic g.191859931G>A g.190995205G>A STAT1(NM_007315.3):c.800C>T (p.A267V) - STAT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.800C>T r.(?) p.(Ala267Val) - - - - - - - - - - Unknown - pathogenic g.191859931G>A g.190995205G>A STAT1(NM_007315.3):c.800C>T (p.A267V) - STAT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 10 c.812A>C r.(?) p.(Gln271Pro) - - - - - - - - - - Parent #1 - pathogenic g.191859919T>G g.190995193T>G DNA change not specified - STAT1_000022 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0019 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 1 affected F - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.812A>C r.(?) p.(Gln271Pro) - - - - - - - - - - Unknown - pathogenic g.191859919T>G g.190995193T>G - - STAT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 10 c.820C>G r.(?) p.(Arg274Gly) - - - - - - - - - - Unknown - pathogenic g.191859911G>C g.190995185G>C - - STAT1_000033 gain-of-function (GOF) variant PubMed: Sampaio 2013 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Sampaio 2013 family, 1 affected M ? (United States) - - 0 - - 1 Esther van de Vosse
+/? 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Parent #1 - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: van de Veerdonk 2011, OMIM:var0008 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: van de Veerdonk 2011 family, 4 affecteds; one family member later reported: 22195034_Fam1P4 M - Netherlands - - 0 - - 4 Johan den Dunnen
+/? 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Parent #1 - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: van de Veerdonk 2011, OMIM:var0008 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - {PMID21714643:van de Veerdonk 2011} (PMID26255980:Zheng 2015} family, 3 affecteds; 2 more patients from this family in Zheng et al 2015 F - United Kingdom (Great Britain) - - 0 - - 3 Johan den Dunnen
+/? 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Parent #1 - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: Liu 2011 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 3 affecteds - - Argentina - - 0 - - 3 Johan den Dunnen
+/? 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Parent #1 - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: Liu 2011 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 1 affected F - Germany - - 0 - - 1 Johan den Dunnen
+/? 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Parent #1 - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: Liu 2011 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 1 affected F - France - - 0 - - 1 Johan den Dunnen
+/? 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Unknown - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: Smeekens 2011 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - {PMID22195034:Smeekens 2011} family, 3 affecteds F no United Kingdom (Great Britain) - - 0 - - 3 Esther van de Vosse
+/? 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Unknown - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: Smeekens 2011 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - {PMID22195034:Smeekens 2011} family, 3 affecteds F no United Kingdom (Great Britain) - - 0 - - 3 Esther van de Vosse
+/+ 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Unknown - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: Toth 2012 PubMed: Soltesz 2013 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011, PubMed: Soltesz 2013 family, 2 affecteds F ? Hungary - - 0 - - 2 Esther van de Vosse
+/+? 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Unknown - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: Tanimura 2015 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Tanimura 2015 family, 1 affected M ? Japan - - 0 - - 1 Esther van de Vosse
+/+? 10 c.820C>T r.(?) p.Arg274Trp - - - - - - - - - - Unknown - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: Dhalla 2015 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Dhalla 2015 family, 5 affecteds F ? United Kingdom (Great Britain) - - 0 - - 5 Esther van de Vosse
+/+? 10 c.820C>T r.(?) p.Arg274Trp - - - - - - - - - - Unknown - pathogenic g.191859911G>A g.190995185G>A 820G>A (reverse sequence) - STAT1_000007 gain-of-function (GOF) variant PubMed: Kilic 2014 - - Unknown - - - 0 - DNA ? - - IMD-31C;CANDF-7 - PubMed: Kilic 2014 family, 2 affecteds M no Turkey - - 0 - - 2 Esther van de Vosse
+/+? 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Unknown - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: Depner 2016, OMIM:var0008 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Depner 2016 family, 3 affecteds - ? Norway - - 0 - - 3 Esther van de Vosse
+/+? 10 c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Unknown - pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 gain-of-function (GOF) variant PubMed: Depner 2016, OMIM:var0008 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Depner 2016 family, 3 affecteds - ? Germany - - 0 - - 3 Esther van de Vosse
+?/. - c.820C>T r.(?) p.(Arg274Trp) - - - - - - - - - - Unknown - likely pathogenic g.191859911G>A g.190995185G>A - - STAT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Parent #1 - pathogenic g.191859910C>T g.190995184C>T DNA change not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0010 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 6 affecteds, 4 no genetics - - France - - 0 - - 2 Johan den Dunnen
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Parent #1 - pathogenic g.191859910C>T g.190995184C>T DNA change not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0010 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 2 affecteds - - Turkey - - 0 - - 2 Johan den Dunnen
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Parent #1 - pathogenic g.191859910C>T g.190995184C>T DNA change not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0010 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 2 affecteds - - Japan - - 0 - - 2 Johan den Dunnen
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Parent #1 - pathogenic g.191859910C>T g.190995184C>T DNA change not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0010 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 2 affecteds - - France - - 0 - - 2 Johan den Dunnen
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Paternal (confirmed) - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Hori 2012 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - {PMID22847544:Hori 2012} family, 2 affecteds F ? (Japan) - - 0 - - 2 Esther van de Vosse
+/+ 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Unknown - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Soltesz 2013 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Soltesz 2013 family, 1 affected F ? Russian Federation - - 0 - - 1 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Maternal (confirmed) - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Kataoka 2015 - - Germline - - - 0 - DNA ? - - IMD-31C;CANDF-7 - PubMed: Kataoka 2015 family, 2 affecteds M no Japan - - 0 - - 2 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Unknown - pathogenic g.191859910C>T g.190995184C>T not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Zheng 2015 - - Germline - - - 0 - DNA ? - - IMD-31C;CANDF-7 - PubMed: Zheng 2015 family, 1 affected M ? Netherlands - - 0 - - 1 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.Arg274Gln - - - - - - - - - - Unknown - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Zerbe 2016 - - Unknown - - - 0 - DNA ? - - IMD-31C;CANDF-7 - PubMed: Zerbe 2016 family, 1 affected M ? United States Hispanic - 0 - - 1 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Unknown - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Wildbaum 2013 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Wildbaum 2013 family, 1 affected F ? Israel - - 0 - - 1 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Unknown - pathogenic g.191859910C>T g.190995184C>T DNA change not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Mossner 2016 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Mossner 2016 family, 1 affected M ? (Germany) Tunisian-German - 0 - - 1 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Unknown - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Depner 2016, OMIM:var0010 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Depner 2016 family, 4 affecteds - ? Germany - - 0 - - 4 Esther van de Vosse
+/. - c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Unknown - pathogenic g.191859910C>T g.190995184C>T STAT1(NM_007315.3):c.821G>A (p.R274Q) - STAT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.821G>A r.(?) p.(Arg274Gln) - - - - - - - - - - Unknown - pathogenic g.191859910C>T g.190995184C>T STAT1(NM_007315.3):c.821G>A (p.R274Q) - STAT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 10 c.832A>G r.(?) p.Lys278Glu - - - - - - - - - - Unknown - pathogenic g.191859899T>C g.190995173T>C - - STAT1_000047 gain-of-function (GOF) variant PubMed: Yamazaki 2014 - - De novo - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Yamazaki 2014 family, 1 affected F no Japan - - 0 - - 1 Esther van de Vosse
+/+ 10 c.854A>G r.(?) p.(Gln285Arg) - - - - - - - - - - Unknown - pathogenic g.191859877T>C g.190995151T>C - - STAT1_000038 gain-of-function (GOF) variant PubMed: Soltesz 2013 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Soltesz 2013 family, 1 affected F ? Russian Federation - - 0 - - 1 Esther van de Vosse
+/+? 10 c.857A>T r.(?) p.(Lys286Ile) - - - - - - - - - - Parent #1 - pathogenic g.191859874T>A g.190995148T>A DNA change not specified - STAT1_000014 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0011 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 4 affecteds, 2 no genetics - - France - - 0 - - 2 Johan den Dunnen
?/. - c.859T>A r.(?) p.(Tyr287Asn) - - - - - - - - - - Unknown - VUS g.191859872A>T g.190995146A>T - - STAT1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 10 c.859T>G r.(?) p.(Tyr287Asp) - - - - - - - - - - Unknown - pathogenic g.191859872A>C g.190995146A>C - - STAT1_000060 gain-of-function (GOF) variant PubMed: Depner 2016 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Depner 2016 family, 1 affected - - United Kingdom (Great Britain) - - 0 - - 1 Esther van de Vosse
+/+? 10 c.862A>G r.(?) p.(Thr288Ala) - - - - - - - - - - Parent #1 - pathogenic g.191859869T>C g.190995143T>C DNA change not specified - STAT1_000018 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0015 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 1 affected F - Mexico - - 0 - - 1 Johan den Dunnen
+/+? 10 c.862A>G r.(?) p.(Thr288Ala) - - - - - - - - - - Parent #1 - pathogenic g.191859869T>C g.190995143T>C DNA change not specified - STAT1_000018 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0015 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Liu 2011 family, 2 affecteds - - Switzerland - - 0 - - 2 Johan den Dunnen
+/+? 10 c.863C>T r.(?) p.(Thr288Ile) - - - - - - - - - - Unknown - pathogenic g.191859868G>A g.190995142G>A not specified - STAT1_000043 gain-of-function (GOF) variant PubMed: Zheng 2015 - - Unknown - - - 0 - DNA ? - - IMD-31C;CANDF-7 - PubMed: Zheng 2015 family, 1 affected M ? United Kingdom (Great Britain) - - 0 - - 1 Esther van de Vosse
+/+? 10 c.863C>T r.(?) p.(Thr288Ile) - - - - - - - - - - Unknown - pathogenic g.191859868G>A g.190995142G>A - - STAT1_000043 gain-of-function (GOF) variant PubMed: Lee 2014 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Lee 2014 family, 1 affected F ? China - - 0 - - 1 Esther van de Vosse
+/+? 10 c.877C>T r.(?) p.(Pro293Ser) - - - - - - - - - - Unknown - pathogenic g.191859854G>A g.190995128G>A - - STAT1_000059 gain-of-function (GOF) variant PubMed: Depner 2016 - - Germline - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Depner 2016 family, 2 affecteds - - Slovakia (Slovak Republic) - - 0 - - 2 Esther van de Vosse
+/+? 10 c.881T>C r.(?) p.Ile294Thr - - - - - - - - - - Unknown - pathogenic g.191859850A>G g.190995124A>G not specified - STAT1_000039 AD loss-of-function (LOF) variant? not experimentally proven PubMed: Sharfe 2014 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Sharfe 2014 autosomal dominant or haploinsufficiency? STAT1 defect F no (Canada) Iranian descent - 0 - - 1 Esther van de Vosse
+/+? 10 c.894A>C r.(?) p.(Lys298Asn) - - - - - - - - - - Unknown - pathogenic g.191859837T>G g.190995111T>G - - STAT1_000045 gain-of-function (GOF) variant PubMed: Martinez-Martinez 2015 - - De novo - - - 0 - DNA ? - - IMD-31C;CANDF-7 - PubMed: Martinez-Martinez 2015 family, 3 affecteds M ? Spain - - 0 - - 3 Esther van de Vosse
-?/. - c.944+54C>T r.(=) p.(=) - - - - - - - - - - Unknown - likely benign g.191859733G>A g.190995007G>A STAT1(NM_007315.3):c.944+54C>T - STAT1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 11 c.958G>C r.(?) p.(Glu320Gln) - - - - - - - - - - Parent #1 - pathogenic g.191856033C>G g.190991307C>G - - STAT1_000023 AD loss-of-function (LOF) variant PubMed: Chapgier 2006b, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - IMD-31A - {PMID16934001:Chapgier 2006b} family, 3 affecteds F - Germany - - 0 - - 3 Johan den Dunnen
+/+? 11 c.970T>C r.(?) p.Cys324Arg - - - - - - - - - - Unknown - pathogenic g.191856021A>G g.190991295A>G not specified - STAT1_000040 AD loss-of-function (LOF) variant PubMed: Sharfe 2014 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Sharfe 2014 autosomal dominant or haploinsufficiency? STAT1 defect M no (Canada) - - 0 - - 1 Esther van de Vosse
+/+? 11 c.986C>T r.(?) p.(Pro329Leu) - - - - - - - - - - Unknown - pathogenic g.191856005G>A g.190991279G>A - - STAT1_000050 gain-of-function (GOF) variant PubMed: Mizoguchi 2014 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Mizoguchi 2014 family, 2 affecteds F ? Japan - - 0 - - 2 Esther van de Vosse
-?/. - c.990G>A r.(?) p.(Gln330=) - - - - - - - - - - Unknown - likely benign g.191856001C>T g.190991275C>T STAT1(NM_007315.3):c.990G>A (p.Q330=) - STAT1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.990G>A r.(?) p.(Gln330=) - - - - - - - - - - Unknown - likely benign g.191856001C>T g.190991275C>T STAT1(NM_007315.3):c.990G>A (p.Q330=) - STAT1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1057G>A r.(?) p.(Glu353Lys) - - - - - - - - - - Unknown - pathogenic g.191854381C>T g.190989655C>T - - STAT1_000032 gain-of-function (GOF) variant PubMed: Sampaio 2013 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Sampaio 2013 family, 1 affected F ? United States Hispanic - 0 - - 1 Esther van de Vosse
+/+? 12 c.1060C>A r.(?) p.(Leu354Met) - - - - - - - - - - Unknown - pathogenic g.191854378G>T g.190989652G>T - - STAT1_000049 gain-of-function (GOF) variant PubMed: Mizoguchi 2014 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Mizoguchi 2014 family, 2 affecteds M ? Japan - - 0 - - 2 Esther van de Vosse
+/+? 12 c.1073T>G r.(?) p.(Leu358Trp) - - - - - - - - - - Unknown - pathogenic g.191854365A>C g.190989639A>C - - STAT1_000053 gain-of-function (GOF) variant PubMed: Uzel 2013 - - Unknown - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Uzel 2013 family, 1 affected M ? United States white - 0 - - 1 Esther van de Vosse
+/+? 12 c.1074G>T r.(?) p.(Leu358Phe) - - - - - - - - - - Unknown - pathogenic g.191854364C>A g.190989638C>A - - STAT1_000058 gain-of-function (GOF) variant PubMed: Lee 2014 - - De novo - - - 0 - DNA SEQ - - IMD-31C;CANDF-7 - PubMed: Lee 2014 family, 1 affected F ? China - - 0 - - 1 Esther van de Vosse
-/. - c.1097+10C>G r.(=) p.(=) - - - - - - - - - - Unknown - benign g.191854331G>C g.190989605G>C STAT1(NM_007315.3):c.1097+10C>G - STAT1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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