Full data view for gene KL

Information The variants shown are described using the NM_004795.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.112G>A r.(?) p.(Gly38Ser) Unknown - VUS g.33590690G>A g.33016552G>A KL(NM_004795.3):c.112G>A (p.(Gly38Ser)) - KL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127G>A r.(?) p.(Ala43Thr) Unknown - likely benign g.33590705G>A - KL(NM_004795.3):c.127G>A (p.A43T) - KL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273T>C r.(?) p.(Asp91=) Unknown - benign g.33590851T>C g.33016713T>C KL(NM_004795.4):c.273T>C (p.D91=) - KL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326T>G r.(?) p.(Leu109Arg) Unknown - likely benign g.33590904T>G - KL(NM_004795.3):c.326T>G (p.(Leu109Arg)) - KL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472C>T r.(?) p.(Pro158Ser) Unknown - VUS g.33591050C>T - KL(NM_004795.4):c.472C>T (p.(Pro158Ser)) - KL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.497A>G r.(?) p.(Asn166Ser) Parent #1 - VUS g.33591075A>G g.33016937A>G - - KL_000007 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387907444 Germline - 3/2751 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. - c.916C>T r.(?) p.(Arg306*) Unknown - likely pathogenic g.33628000C>T - KL(NM_004795.4):c.916C>T (p.R306*) - KL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1325T>C r.(?) p.(Leu442Ser) Unknown - VUS g.33628409T>C - KL(NM_004795.4):c.1325T>C (p.(Leu442Ser)) - KL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1420C>T r.(?) p.(Arg474Cys) Unknown - VUS g.33629273C>T - KL(NM_004795.4):c.1420C>T (p.(Arg474Cys)) - KL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1540C>T r.(?) p.(Pro514Ser) Parent #1 - likely benign g.33629393C>T g.33055256C>T - - KL_000008 163 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3752472 Germline - 163/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 163 Mohammed Faruq
-?/. - c.1540C>T r.(?) p.(Pro514Ser) Both (homozygous) - likely benign g.33629393C>T g.33055256C>T - - KL_000008 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3752472 Germline - 8/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. - c.1540C>T r.(?) p.(Pro514Ser) Unknown - likely benign g.33629393C>T - KL(NM_004795.3):c.1540C>T (p.(Pro514Ser)) - KL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1767C>T r.(?) p.(His589=) Unknown - benign g.33634983C>T g.33060846C>T KL(NM_004795.4):c.1767C>T (p.H589=) - KL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1807C>G r.(?) p.(Leu603Val) Unknown - VUS g.33635023C>G - KL(NM_004795.3):c.1807C>G (p.L603V) - KL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1882C>T r.(?) p.(Arg628Cys) Unknown - VUS g.33635098C>T - KL(NM_004795.3):c.1882C>T (p.R628C) - KL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1946G>A r.(?) p.(Arg649His) Unknown - likely benign g.33635162G>A - KL(NM_004795.3):c.1946G>A (p.(Arg649His)) - KL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2247T>C r.(?) p.(Ala749=) Unknown - benign g.33635463T>C g.33061326T>C KL(NM_004795.4):c.2247T>C (p.A749=) - KL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2450A>G r.(?) p.(Glu817Gly) Unknown - likely benign g.33635666A>G - KL(NM_004795.3):c.2450A>G (p.E817G) - KL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2585A>G r.(?) p.(Lys862Arg) Unknown - VUS g.33635801A>G - KL(NM_004795.4):c.2585A>G (p.K862R) - KL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2593G>C r.(?) p.(Asp865His) Unknown - VUS g.33635809G>C - KL(NM_004795.4):c.2593G>C (p.D865H) - KL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2619T>C r.(?) p.(Asn873=) Unknown - benign g.33635835T>C g.33061698T>C KL(NM_004795.4):c.2619T>C (p.N873=) - KL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2626G>A r.(?) p.(Asp876Asn) Unknown - likely benign g.33635842G>A - KL(NM_004795.4):c.2626G>A (p.D876N) - KL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2650G>A r.(?) p.(Asp884Asn) Unknown - likely pathogenic g.33635866G>A g.33061729G>A NM_004795.3(KL):c.2650G>A p.(Asp884Asn) - KL_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-509A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
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