Full data view for gene CASP8

Information The variants shown are described using the NM_001228.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
Legend   How to query  

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.-4814G>C r.(?) p.(=) Unknown - VUS g.202093655G>C - CASP10(NM_032974.5):c.1416-1G>C - CASP8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4787T>G r.(?) p.(=) Unknown - likely benign g.202093682T>G g.201228959T>G CASP10(NM_032974.5):c.1442T>G (p.M481R) - CASP8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4672C>T r.(?) p.(=) Unknown - likely benign g.202093797C>T g.201229074C>T CASP10(NM_032974.4):c.1557C>T (p.S519=), CASP10(NM_032974.5):c.1557C>T (p.S519=) - CASP8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4672C>T r.(?) p.(=) Unknown - likely benign g.202093797C>T - CASP10(NM_032974.4):c.1557C>T (p.S519=), CASP10(NM_032974.5):c.1557C>T (p.S519=) - CASP8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4671G>A r.(?) p.(=) Unknown - likely benign g.202093798G>A - CASP10(NM_032974.5):c.1558G>A (p.V520I) - CASP8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-124+5G>A r.spl? p.? Unknown - likely benign g.202098350G>A - CASP8(NM_001228.4):c.-124+5G>A - CASP8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27+12545A>C r.(?) p.(=) Unknown - VUS g.202111380A>C g.201246657A>C - - CASP8_000002 - - - - Germline ? 1/2608 cases - - - DNA TaqMan blood or saliva - CLP - - non Hispanic white and Hispanic families ? no United States - - - - - 1 Brett Chiquet
-?/. - c.-26-8276T>C r.(=) p.(=) Unknown - likely benign g.202122908T>C g.201258185T>C CASP8(NM_001228.4):c.-26-8276T>C - CASP8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-26-8228T>C r.(=) p.(=) Parent #1 - benign g.202122956T>C g.201258233T>C - - CASP8_000021 190 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3769824 Germline - 190/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 190 Mohammed Faruq
-/. - c.-26-8228T>C r.(=) p.(=) Both (homozygous) - benign g.202122956T>C g.201258233T>C - - CASP8_000021 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3769824 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.-26-8139G>A r.(=) p.(=) Unknown - VUS g.202123045G>A - CASP8(NM_001080125.1):c.91G>A (p.V31M) - CASP8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26-8076G>A r.(=) p.(=) Unknown - likely benign g.202123108G>A - CASP8(NM_001080125.2):c.151+3G>A - CASP8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26-6187T>C r.(?) p.(=) Unknown - VUS g.202124997T>C g.201260274T>C - - CASP8_000003 - - - - Germline ? 1/2608 cases - - - DNA TaqMan blood or saliva - CLP - - non Hispanic white and Hispanic families ? no United States - - - - - 1 Brett Chiquet
-?/. - c.93G>A r.(?) p.(Pro31=) Unknown - likely benign g.202131302G>A g.201266579G>A CASP8(NM_001080125.1):c.270G>A (p.P90=) - CASP8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.106del r.(?) p.(Glu36Asnfs*7) Unknown - VUS g.202131315del g.201266592del 106delG - CASP8_000016 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.202C>T r.(?) p.(Arg68*) Unknown - VUS g.202131411C>T - CASP8(NM_001080125.1):c.379C>T (p.R127*) - CASP8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280G>C r.(?) p.(Gly94Arg) Unknown - likely benign g.202131489G>C - CASP8(NM_001080125.2):c.457G>C (p.G153R), CASP8(NM_001228.4):c.280G>C (p.G94R) - CASP8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.280G>C r.(?) p.(Gly94Arg) Unknown - VUS g.202131489G>C - CASP8(NM_001080125.2):c.457G>C (p.G153R), CASP8(NM_001228.4):c.280G>C (p.G94R) - CASP8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.286G>T r.(?) p.(Ala96Ser) Unknown - VUS g.202131495G>T g.201266772G>T - - CASP8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358_359del r.(?) p.(Gln120ValfsTer33) Unknown - VUS g.202134285_202134286del g.201269562_201269563del CASP8(NM_001228.4):c.358_359delCA (p.Q120Vfs*33) - CASP8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.358_359del r.(?) p.(Gln120ValfsTer33) Unknown - likely pathogenic g.202134285_202134286del - CASP8(NM_001228.4):c.358_359delCA (p.Q120Vfs*33) - CASP8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.394T>C r.(?) p.(Leu132=) Unknown - benign g.202134321T>C g.201269598T>C CASP8(NM_001228.4):c.394T>C (p.L132=) - CASP8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.394T>C r.(?) p.(Leu132=) Unknown - likely benign g.202134321T>C g.201269598T>C CASP8(NM_001228.4):c.394T>C (p.L132=) - CASP8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.528A>G r.(?) p.(Ile176Met) Unknown - likely benign g.202137381A>G - CASP8(NM_001080125.2):c.609A>G (p.I203M) - CASP8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.646+120A>G r.(=) p.(=) Unknown - VUS g.202137619A>G g.201272896A>G CASP8(NM_001080125.1):c.728-2A>G - CASP8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646+127A>C r.(=) p.(=) Unknown - likely benign g.202137626A>C - CASP8(NM_001080125.1):c.733A>C (p.S245R), CASP8(NM_001080125.2):c.733A>C (p.S245R) - CASP8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646+127A>C r.(=) p.(=) Unknown - likely benign g.202137626A>C - CASP8(NM_001080125.1):c.733A>C (p.S245R), CASP8(NM_001080125.2):c.733A>C (p.S245R) - CASP8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.646+169A>G r.(=) p.(=) Unknown - VUS g.202137668A>G - CASP8(NM_001080125.1):c.772+3A>G - CASP8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.654G>C r.(?) p.(Glu218Asp) Unknown - VUS g.202139619G>C g.201274896G>C CASP8(NM_001080125.1):c.780G>C (p.E260D), CASP8(NM_001080125.2):c.780G>C (p.E260D) - CASP8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.654G>C r.(?) p.(Glu218Asp) Unknown - likely benign g.202139619G>C - CASP8(NM_001080125.1):c.780G>C (p.E260D), CASP8(NM_001080125.2):c.780G>C (p.E260D) - CASP8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.712-1G>A r.spl? p.? Unknown - pathogenic g.202141549G>A g.201276826G>A CASP8(NM_001080125.2):c.838-1G>A - CASP8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.806C>T r.(?) p.(Pro269Leu) Unknown - VUS g.202141644C>T - - - CASP8_000024 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.904G>C r.(?) p.(Asp302His) Unknown - benign g.202149589G>C g.201284866G>C CASP8(NM_001080125.2):c.1030G>C (p.D344H) - CASP8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.943A>G r.(?) p.(Ile315Val) Unknown - likely benign g.202149628A>G - CASP8(NM_001080125.2):c.1069A>G (p.I357V) - ALS2CR12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1120A>T r.(?) p.(Ile374Phe) Unknown - VUS g.202149805A>T g.201285082A>T CASP8(NM_001080125.2):c.1246A>T (p.I416F) - CASP8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1232C>T r.(?) p.(Pro411Leu) Unknown - VUS g.202149917C>T - CASP8(NM_001080125.1):c.1358C>T (p.P453L) - ALS2CR12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1355G>A r.(?) p.(Arg452Gln) Unknown - likely benign g.202150040G>A g.201285317G>A CASP8(NM_001080125.1):c.1481G>A (p.R494Q) - CASP8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1355+12C>T r.(=) p.(=) Unknown - likely benign g.202150052C>T g.201285329C>T CASP8(NM_001228.4):c.1355+12C>T - CASP8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1356-19A>G r.(=) p.(=) Unknown - benign g.202151163A>G g.201286440A>G CASP8(NM_001080125.2):c.1482-19A>G - CASP8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1174T>A r.(=) p.(=) Unknown - VUS g.202152491T>A g.201287768T>A - - CASP8_000004 - - - - Germline ? 1/2608 cases - - - DNA TaqMan blood or saliva - CLP - - non Hispanic white and Hispanic families ? no United States - - - - - 1 Brett Chiquet
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.