Full data view for gene CDH11

Information The variants shown are described using the NM_001797.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.164G>C r.(?) p.(Trp55Ser) Unknown - pathogenic g.65038609C>G - - - CDH11_000006 - PubMed: Li 2021, Journal: Li 2021 - - De novo - - - - - DNA SEQ-NG-I - - ? FamB PubMed: Li 2021, Journal: Li 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Dong Li
?/. - c.184G>A r.(?) p.(Val62Met) Unknown - VUS g.65038589C>T - CDH11(NM_001797.4):c.184G>A (p.V62M) - CDH11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.409C>T r.(?) p.(Arg137Trp) Unknown - VUS g.65032579G>A - CDH11(NM_001797.2):c.409C>T (p.(Arg137Trp)) - CDH11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.418G>A r.(?) p.(Glu140Lys) Unknown - pathogenic g.65032570C>T - - - CDH11_000007 - PubMed: Li 2021, Journal: Li 2021 - - Germline - - - - - DNA SEQ-NG-I - - ? FamC PubMed: Li 2021, Journal: Li 2021 2-generation family, affected father/daughter F;M - United States - - - - - 2 Dong Li
?/. - c.682G>T r.(?) p.(Ala228Ser) Unknown - VUS g.65025800C>A - CDH11(NM_001797.4):c.682G>T (p.A228S) - CDH11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.700G>T r.(?) p.(Val234Leu) Unknown - likely benign g.65025782C>A - CDH11(NM_001797.2):c.700G>T (p.(Val234Leu)) - CDH11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.778G>A r.(?) p.(Asp260Asn) Unknown - pathogenic g.65025704C>T - - - CDH11_000010 - PubMed: Li 2021, Journal: Li 2021 - - Germline yes - - - - DNA SEQ-NG-I - - ? FamF PubMed: Li 2021, Journal: Li 2021 3-generation family, 5 affected (2F, 3M) F;M - United States - - - - - 5 Dong Li
+/. - c.780T>A r.(?) p.(Asp260Glu) Unknown - pathogenic g.65025702A>T - - - CDH11_000008 - PubMed: Li 2021, Journal: Li 2021 - - De novo - - - - - DNA SEQ-NG-I - - ? FamD PubMed: Li 2021, Journal: Li 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Dong Li
?/. - c.785A>G r.(?) p.(Asn262Ser) Unknown - VUS g.65025697T>C g.64991794T>C CDH11(NM_001308392.2):c.785A>G (p.N262S) - CDH11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.785A>T r.(?) p.(Asn262Ile) Unknown - pathogenic g.65025697T>A - - - CDH11_000009 - PubMed: Li 2021, Journal: Li 2021 - - De novo - - - - - DNA SEQ-NG-I - - ? FamE PubMed: Li 2021, Journal: Li 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Dong Li
+/. - c.797C>T r.(?) p.(Pro266Leu) Unknown - pathogenic g.65025685G>A - - - CDH11_000013 - PubMed: Li 2021, Journal: Li 2021 - - De novo - - - - - DNA SEQ-NG-I - - ? FamI PubMed: Li 2021, Journal: Li 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Dong Li
?/. - c.814G>A r.(?) p.(Val272Ile) Unknown - VUS g.65022245C>T - CDH11(NM_001797.4):c.814G>A (p.V272I) - CDH11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.835G>C r.(?) p.(Glu279Gln) Unknown - pathogenic g.65022224C>G - - - CDH11_000011 - PubMed: Li 2021, Journal: Li 2021 - - De novo - - - - - DNA SEQ-NG-I - - ? FamG PubMed: Li 2021, Journal: Li 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Dong Li
+/. - c.979G>T r.(?) p.(Gly327Trp) Paternal (confirmed) - pathogenic g.65022080C>A - - - CDH11_000005 - PubMed: Li 2021, Journal: Li 2021 - - Germline yes - - - - DNA SEQ-NG-I - - ? FamA PubMed: Li 2021, Journal: Li 2021 2-generation family, 4 affected (3F, M) F;M - United States - - - - - 4 Dong Li
+/. - c.999+1G>T r.spl p.? Both (homozygous) - pathogenic g.65022059C>A g.64988156C>A - - CDH11_000014 - PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 12DG1149 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.1088C>T r.(?) p.(Pro363Leu) Unknown - VUS g.65016116G>A - CDH11(NM_001797.2):c.1088C>T (p.(Pro363Leu)) - CDH11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1108G>A r.(?) p.(Val370Ile) Unknown - VUS g.65016096C>T - CDH11(NM_001797.2):c.1108G>A (p.(Val370Ile)) - CDH11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1121T>A r.(?) p.(Val374Glu) Maternal (confirmed) - pathogenic g.65016083A>T - - - CDH11_000012 - PubMed: Li 2021, Journal: Li 2021 - - Germline yes - - - - DNA SEQ-NG-I - - ? FamH PubMed: Li 2021, Journal: Li 2021 4-generation family, 6 affected (F, 5M) F;M - United States - - - - - 6 Dong Li
?/. - c.1201G>A r.(?) p.(Val401Met) Unknown - VUS g.65016003C>T - CDH11(NM_001797.4):c.1201G>A (p.V401M) - CDH11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1477G>A r.(?) p.(Glu493Lys) Unknown - VUS g.65005881C>T - CDH11(NM_001797.4):c.1477G>A (p.(Glu493Lys)) - CDH11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1525-7C>T r.(=) p.(=) Unknown - likely benign g.65005606G>A - CDH11(NM_001797.4):c.1525-7C>T - CDH11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559A>T r.(?) p.(Asp520Val) Unknown - VUS g.65005565T>A - CDH11(NM_001797.4):c.1559A>T (p.D520V) - CDH11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1639C>T r.(?) p.(Arg547*) Both (homozygous) - likely pathogenic g.65005485G>A g.64971582G>A - - CDH11_000004 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.1945A>G r.(?) p.(Ile649Val) Unknown - VUS g.64981952T>C - CDH11(NM_001797.4):c.1945A>G (p.(Ile649Val), p.I649V) - CDH11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1945A>G r.(?) p.(Ile649Val) Unknown - VUS g.64981952T>C - CDH11(NM_001797.4):c.1945A>G (p.(Ile649Val), p.I649V) - CDH11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2039C>A r.(?) p.(Thr680Asn) Unknown - VUS g.64981858G>T - CDH11(NM_001797.4):c.2039C>A (p.T680N) - CDH11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2132C>T r.(?) p.(Ala711Val) Unknown - likely pathogenic g.64981765G>A g.64947862G>A NM_001797.3(CDH11):c.2132C>T p.(Ala711Val) - CDH11_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-716A 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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