Full data view for gene IFIH1

Information The variants shown are described using the NM_022168.3 transcript reference sequence.

122 entries on 2 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     
?/. - c.62G>T r.(?) p.(Arg21Met) Unknown - VUS g.163174756C>A g.162318246C>A IFIH1(NM_022168.4):c.62G>T (p.R21M) - GCA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.229C>T r.(?) p.(Arg77Trp) Unknown - likely benign g.163174589G>A - IFIH1(NM_022168.4):c.229C>T (p.R77W) - GCA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>T r.(?) p.(Arg77Trp) Unknown - VUS g.163174589G>A - - - GCA_000008 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.229C>T r.(?) p.(Arg77Trp) Unknown - VUS g.163174589G>A - - - GCA_000008 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.229C>T r.(?) p.(Arg77Trp) Unknown - VUS g.163174589G>A - - - GCA_000008 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.258C>G r.(?) p.(Thr86=) Unknown - benign g.163174560G>C g.162318050G>C IFIH1(NM_022168.4):c.258C>G (p.T86=) - GCA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.281A>G r.(?) p.(Tyr94Cys) Unknown - VUS g.163174537T>C g.162318027T>C - - IFIH1_000083 - PubMed: Ganapathy 2019 - rs1325840950 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-2047 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.299C>G r.(?) p.(Thr100Arg) Unknown - likely benign g.163174519G>C g.162318009G>C IFIH1(NM_022168.3):c.299C>G (p.(Thr100Arg)) - GCA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389T>C r.(?) p.(Leu130Pro) Unknown - VUS g.163174429A>G - IFIH1(NM_022168.4):c.389T>C (p.L130P) - GCA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.427C>T r.(?) p.(Leu143=) Unknown - likely benign g.163174391G>A g.162317881G>A IFIH1(NM_022168.4):c.427C>T (p.L143=) - GCA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.436A>G r.(?) p.(Ile146Val) Unknown - likely benign g.163174382T>C g.162317872T>C IFIH1(NM_022168.4):c.436A>G (p.I146V) - GCA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454-1G>T r.spl? p.? Unknown - VUS g.163167444C>A g.162310934C>A IFIH1(NM_022168.4):c.454-1G>T - IFIH1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.478A>G r.(?) p.(Asn160Asp) Unknown - VUS g.163167419T>C g.162310909T>C IFIH1(NM_022168.4):c.478A>G (p.N160D) - IFIH1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.478A>G r.(?) p.(Asn160Asp) Unknown - likely benign g.163167419T>C - IFIH1(NM_022168.4):c.478A>G (p.N160D) - IFIH1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487G>A r.(?) p.(Gly163Ser) Unknown - VUS g.163167410C>T - - - IFIH1_000078 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+?/. - c.505A>T r.(?) p.(Lys169Ter) Unknown - likely pathogenic g.163167392T>A - IFIH1(NM_022168.4):c.505A>T (p.K169*) - IFIH1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.527A>G r.(?) p.(Asn176Ser) Unknown - likely benign g.163167370T>C g.162310860T>C IFIH1(NM_022168.3):c.527A>G (p.(Asn176Ser)) - IFIH1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.556C>T r.(?) p.(Arg186Cys) Unknown - likely benign g.163167341G>A g.162310831G>A IFIH1(NM_022168.4):c.556C>T (p.R186C) - IFIH1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.557G>C r.(?) p.(Arg186Pro) Unknown - likely benign g.163167340C>G g.162310830C>G IFIH1(NM_022168.4):c.557G>C (p.R186P) - IFIH1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.694_704del r.(?) p.(Asn232Glyfs*8) Unknown - VUS g.163163285_163163295del - IFIH1(NM_022168.4):c.694_704delAATCTGGAGAA (p.N232Gfs*8) - IFIH1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.769+10dup r.(=) p.(=) Unknown - likely benign g.163163211dup g.162306701dup IFIH1(NM_022168.4):c.769+10dupA - IFIH1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.937del r.(?) p.(Met313TrpfsTer35) Unknown - VUS g.163144805del g.162288295del - - IFIH1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1018G>C r.(?) p.(Val340Leu) Unknown - likely pathogenic g.163144722C>G g.162288212C>G IFIH1(NM_022168.3):c.1018G>C (p.(Val340Leu)) - IFIH1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1041A>C r.(?) p.(Leu347Phe) Unknown - VUS g.163144699T>G - - - IFIH1_000077 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.1046A>G r.(?) p.(Lys349Arg) Unknown - benign g.163144694T>C g.162288184T>C IFIH1(NM_022168.4):c.1046A>G (p.K349R) - IFIH1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1046A>G r.(?) p.(Lys349Arg) Unknown - likely benign g.163144694T>C g.162288184T>C IFIH1(NM_022168.4):c.1046A>G (p.K349R) - IFIH1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1066C>A r.(?) p.(Pro356Thr) Unknown - likely benign g.163144674G>T g.162288164G>T IFIH1(NM_022168.4):c.1066C>A (p.P356T) - IFIH1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1066C>A r.(?) p.(Pro356Thr) Unknown - likely benign g.163144674G>T - IFIH1(NM_022168.4):c.1066C>A (p.P356T) - IFIH1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1093A>G r.(?) p.(Lys365Glu) Unknown - VUS g.163144647T>C - - - IFIH1_000076 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1095+1G>A r.spl? p.? Unknown - VUS g.163144644C>T g.162288134C>T IFIH1(NM_022168.4):c.1095+1G>A - IFIH1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1097T>A r.(?) p.(Val366Glu) Unknown - VUS g.163139085A>T g.162282575A>T IFIH1(NM_022168.4):c.1097T>A (p.V366E) - IFIH1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1121G>A r.(?) p.(Arg374His) Unknown - likely benign g.163139061C>T g.162282551C>T IFIH1(NM_022168.4):c.1121G>A (p.R374H) - IFIH1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1135C>T r.(?) p.(Pro379Ser) Unknown - VUS g.163139047G>A - - - IFIH1_000072 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1152G>A r.(?) p.(Trp384Ter) Unknown - VUS g.163139030C>T g.162282520C>T IFIH1(NM_022168.4):c.1152G>A (p.W384*) - IFIH1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1312T>C r.(?) p.(Ser438Pro) Unknown - likely benign g.163138050A>G g.162281540A>G IFIH1(NM_022168.4):c.1312T>C (p.S438P) - IFIH1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1312T>C r.(?) p.(Ser438Pro) Unknown - likely benign g.163138050A>G g.162281540A>G IFIH1(NM_022168.4):c.1312T>C (p.S438P) - IFIH1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1432G>A r.(?) p.(Val478Met) Unknown - likely benign g.163137930C>T g.162281420C>T IFIH1(NM_022168.4):c.1432G>A (p.V478M) - IFIH1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 7 c.1433T>C r.(?) p.(Val478Ala) Unknown - VUS g.163137929A>G g.162281419A>G - - IFIH1_000082 - 0 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-4086 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.1481G>T r.(?) p.(Gly494Val) Unknown - likely benign g.163137881C>A g.162281371C>A IFIH1(NM_022168.4):c.1481G>T (p.G494V) - IFIH1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1498G>A r.(?) p.(Ala500Thr) Unknown - likely benign g.163137864C>T - IFIH1(NM_022168.4):c.1498G>A (p.A500T) - IFIH1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1516A>G r.(?) p.(Ile506Val) Unknown - VUS g.163137846T>C - - - IFIH1_000071 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1516A>G r.(?) p.(Ile506Val) Unknown - VUS g.163137846T>C - - - IFIH1_000071 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1527A>G r.(?) p.(Leu509=) Unknown - likely benign g.163136620T>C g.162280110T>C IFIH1(NM_022168.4):c.1527A>G (p.L509=) - IFIH1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1552A>G r.(?) p.(Ile518Val) Unknown - VUS g.163136595T>C - IFIH1(NM_022168.4):c.1552A>G (p.I518V) - IFIH1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1583T>G r.(?) p.(Leu528Arg) Unknown - likely benign g.163136564A>C g.162280054A>C IFIH1(NM_022168.4):c.1583T>G (p.L528R) - IFIH1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1583T>G r.(?) p.(Leu528Arg) Unknown - likely benign g.163136564A>C - IFIH1(NM_022168.4):c.1583T>G (p.L528R) - IFIH1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1603C>G r.(?) p.(Pro535Ala) Unknown - VUS g.163136544G>C g.162280034G>C IFIH1(NM_022168.4):c.1603C>G (p.P535A) - IFIH1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1641+1G>C r.spl? p.? Unknown - VUS g.163136505C>G g.162279995C>G IFIH1(NM_022168.3):c.1641+1G>C (p.?), IFIH1(NM_022168.4):c.1641+1G>C - IFIH1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1641+1G>C r.spl? p.? Unknown - likely benign g.163136505C>G g.162279995C>G IFIH1(NM_022168.3):c.1641+1G>C (p.?), IFIH1(NM_022168.4):c.1641+1G>C - IFIH1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1641+1G>C r.spl? p.? Unknown - likely benign g.163136505C>G g.162279995C>G IFIH1(NM_022168.3):c.1641+1G>C (p.?), IFIH1(NM_022168.4):c.1641+1G>C - IFIH1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1641+1G>C r.spl? p.? Unknown - likely benign g.163136505C>G - IFIH1(NM_022168.3):c.1641+1G>C (p.?), IFIH1(NM_022168.4):c.1641+1G>C - IFIH1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1642-8A>G r.(=) p.(=) Unknown - likely benign g.163134846T>C g.162278336T>C IFIH1(NM_022168.4):c.1642-8A>G - IFIH1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1652A>C r.(?) p.(Lys551Thr) Unknown - VUS g.163134828T>G g.162278318T>G - - IFIH1_000081 - PubMed: Ganapathy 2019 - rs577764827 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-84 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.1723A>G r.(?) p.(Thr575Ala) Unknown - likely benign g.163134757T>C g.162278247T>C IFIH1(NM_022168.4):c.1723A>G (p.T575A) - IFIH1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1764dup r.(?) p.(Ala589SerfsTer21) Unknown - VUS g.163134723dup g.162278213dup IFIH1(NM_022168.4):c.1764dupA (p.A589Sfs*21) - IFIH1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1787_1797del r.(?) p.(Lys596MetfsTer10) Unknown - VUS g.163134172_163134182del - IFIH1(NM_022168.4):c.1787_1797delAAGAACGTGTT (p.K596Mfs*10) - IFIH1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1793G>A r.(?) p.(Arg598His) Unknown - VUS g.163134176C>T g.162277666C>T IFIH1(NM_022168.4):c.1793G>A (p.R598H) - IFIH1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1879G>T r.(?) p.(Glu627*) Parent #2 - pathogenic g.163134090C>A g.162277580C>A - - IFIH1_000003 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
./. - c.1879G>T r.(?) p.(Glu627*) Parent #2 - pathogenic g.163134090C>A g.162277580C>A - - IFIH1_000003 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
./. - c.1879G>T r.(?) p.(Glu627*) Parent #2 - pathogenic g.163134090C>A g.162277580C>A - - IFIH1_000003 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. - c.1879G>T r.(?) p.(Glu627Ter) Unknown - likely benign g.163134090C>A g.162277580C>A IFIH1(NM_022168.4):c.1879G>T (p.E627*) - IFIH1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1879G>T r.(?) p.(Glu627Ter) Unknown - VUS g.163134090C>A g.162277580C>A IFIH1(NM_022168.4):c.1879G>T (p.E627*) - IFIH1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1879G>T r.(?) p.(Glu627*) Parent #1 - likely benign g.163134090C>A g.162277580C>A - - IFIH1_000003 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35744605 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1899G>T r.(?) p.(Glu633Asp) Unknown - VUS g.163134070C>A - - - IFIH1_000075 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1943del r.(?) p.(Gly648Valfs*16) Unknown - VUS g.163134028del g.162277518del - - IFIH1_000070 - Liu submitted, 2021 - - Germline - - - 0 - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.2016del r.(?) p.(Asp673Ilefs*5) Unknown - likely benign g.163133953del - IFIH1(NM_022168.4):c.2016delA (p.D673Ifs*5) - IFIH1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2036dup r.(?) p.(Leu679PhefsTer4) Unknown - VUS g.163133935dup - IFIH1(NM_022168.3):c.2036dup (p.(Leu679Phefs*4)) - IFIH1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2105C>T r.(?) p.(Thr702Ile) Unknown - likely benign g.163133396G>A g.162276886G>A IFIH1(NM_022168.4):c.2105C>T (p.T702I) - IFIH1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2115A>C r.(?) p.(Arg705Ser) Unknown - VUS g.163133386T>G - - - IFIH1_000069 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/. - c.2159G>A r.(?) p.(Arg720Gln) Unknown - pathogenic g.163133342C>T g.162276832C>T - - IFIH1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2196T>C r.(?) p.(Tyr732=) Unknown - likely benign g.163133305A>G g.162276795A>G IFIH1(NM_022168.4):c.2196T>C (p.Y732=) - IFIH1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2198C>T r.(?) p.(Ala733Val) Unknown - VUS g.163133303G>A - IFIH1(NM_022168.4):c.2198C>T (p.A733V) - IFIH1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2199G>T r.(?) p.(Ala733=) Unknown - likely benign g.163133302C>A g.162276792C>A IFIH1(NM_022168.4):c.2199G>T (p.A733=) - IFIH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2232T>A r.(?) p.(Phe744Leu) Unknown - VUS g.163133269A>T - - - IFIH1_000074 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2232T>A r.(?) p.(Phe744Leu) Unknown - VUS g.163133269A>T - - - IFIH1_000074 - Liu submitted, 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID-19 - Liu submitted, 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2294C>T r.(?) p.(Pro765Leu) Unknown - VUS g.163133207G>A - IFIH1(NM_022168.4):c.2294C>T (p.P765L) - IFIH1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2304+3A>G r.spl? p.? Unknown - VUS g.163133194T>C g.162276684T>C IFIH1(NM_022168.4):c.2304+3A>G - IFIH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2316A>T r.(?) p.(Lys772Asn) Unknown - VUS g.163130443T>A - IFIH1(NM_022168.4):c.2316A>T (p.K772N) - IFIH1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2317del r.(?) p.(Glu773Lysfs*11) Unknown - VUS g.163130442del - IFIH1(NM_022168.4):c.2317delG (p.E773Kfs*11) - IFIH1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2317G>T r.(?) p.(Glu773Ter) Unknown - pathogenic g.163130442C>A g.162273932C>A IFIH1(NM_022168.4):c.2317G>T (p.E773*) - IFIH1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2330A>G r.(?) p.(Lys777Arg) Unknown - VUS g.163130429T>C g.162273919T>C IFIH1(NM_022168.4):c.2330A>G (p.K777R) - IFIH1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2335C>T r.(?) p.(Arg779Cys) Unknown - pathogenic g.163130424G>A g.162273914G>A - - IFIH1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2336G>A r.(?) p.(Arg779His) Maternal (confirmed) ACMG pathogenic g.163130423C>T g.162273913C>T - - IFIH1_000004 - - - - Germline yes - - 0 - DNA SEQ-NG - - AGS7 S_007 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - 0 - - 1 Bernt Popp
-?/. - c.2361C>T r.(?) p.(Ile787=) Unknown - likely benign g.163130398G>A g.162273888G>A IFIH1(NM_022168.4):c.2361C>T (p.I787=) - IFIH1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2362G>A r.(?) p.(Ala788Thr) Unknown - likely benign g.163130397C>T - IFIH1(NM_022168.4):c.2362G>A (p.A788T) - IFIH1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.2390A>T r.(?) p.(Asp797Val) Unknown - pathogenic (dominant) g.163130369T>A - - - IFIH1_000084 - - - - De novo - - - 0 - DNA SEQ - - AGS7 - - - M no Japan - - - - - 1 Kosei Hasegawa
?/. - c.2417G>A r.(?) p.(Arg806His) Unknown - VUS g.163130342C>T - IFIH1(NM_022168.4):c.2417G>A (p.R806H) - IFIH1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2417G>A r.(?) p.(Arg806His) Unknown - VUS g.163130342C>T - IFIH1(NM_022168.4):c.2417G>A (p.R806H) - IFIH1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2454+9A>G r.(=) p.(=) Unknown - likely benign g.163130296T>C g.162273786T>C IFIH1(NM_022168.4):c.2454+9A>G - IFIH1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2464C>T r.(?) p.(Arg822*) Unknown - VUS g.163128888G>A - IFIH1(NM_022168.4):c.2464C>T (p.R822*) - IFIH1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 13 c.2465G>A r.(?) p.(Arg822Gln) Parent #1 - pathogenic g.163128887C>T g.162272377C>T 2625G>A (Arg822Gln) - IFIH1_000001 - PubMed: Rutsch 2015, Journal: Rutsch 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - SGMRT-1 - PubMed: Rutsch 2015, Journal: Rutsch 2015 5-generation family, 17 affecteds (8F, 9M) - - - - - 0 - - 17 Johan den Dunnen
+/. 13 c.2465G>A r.(?) p.(Arg822Gln) Parent #1 - pathogenic g.163128887C>T g.162272377C>T - - IFIH1_000001 - PubMed: Rutsch 2015, Journal: Rutsch 2015 - rs37604853 Germline yes - - 0 - DNA SEQ, SEQ-NG - - SGMRT-1 - PubMed: Rutsch 2015, Journal: Rutsch 2015 2-generation family, 3 affecteds (1F, 2M) - no - - - 0 - - 3 Johan den Dunnen
+/. 13 c.2465G>A r.(?) p.(Arg822Gln) Unknown - pathogenic g.163128887C>T g.162272377C>T - - IFIH1_000001 de novo in patient PubMed: Rutsch 2015, Journal: Rutsch 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - SGMRT-1 - PubMed: Rutsch 2015, Journal: Rutsch 2015 2-generation family, 1 affected F no - - - 0 - - 1 Johan den Dunnen
+/. - c.2465G>A r.(?) p.(Arg822Gln) Unknown - pathogenic g.163128887C>T g.162272377C>T IFIH1(NM_022168.3):c.2465G>A (p.(Arg822Gln)), IFIH1(NM_022168.4):c.2465G>A (p.R822Q) - IFIH1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2465G>A r.(?) p.(Arg822Gln) Unknown - likely pathogenic g.163128887C>T g.162272377C>T IFIH1(NM_022168.3):c.2465G>A (p.(Arg822Gln)), IFIH1(NM_022168.4):c.2465G>A (p.R822Q) - IFIH1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2472A>C r.(?) p.(Arg824Ser) Unknown - VUS g.163128880T>G g.162272370T>G IFIH1(NM_022168.4):c.2472A>C (p.R824S) - IFIH1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2490C>T r.(?) p.(Tyr830=) Unknown - likely benign g.163128862G>A g.162272352G>A IFIH1(NM_022168.4):c.2490C>T (p.Y830=) - IFIH1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2544T>G r.(?) p.(Asp848Glu) Paternal (confirmed) - likely pathogenic g.163128808A>C g.162272298A>C - - IFIH1_000023 - - - - Germline - - - 0 - DNA SEQ - - AGS7 - - - - - - - - 0 - - 1 Yanick Crow
?/. - c.2597C>T r.(?) p.(Pro866Leu) Unknown - VUS g.163128755G>A g.162272245G>A IFIH1(NM_022168.4):c.2597C>T (p.P866L) - IFIH1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2597C>T r.(?) p.(Pro866Leu) Unknown - likely benign g.163128755G>A g.162272245G>A IFIH1(NM_022168.4):c.2597C>T (p.P866L) - IFIH1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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