Full data view for gene PVRL1

Information The variants shown are described using the NM_002855.4 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.52C>T r.(?) p.(Leu18Phe) Unknown - association g.119599212G>A g.119728502G>A PVRL1 c.52C>T, p.L18F - PVRL1_000025 risk factor PubMed: Peng 2016 - - Unknown ? 2/103 cases - - - DNA SEQ-NG, SEQ - next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study OFC ? PubMed: Peng 2016 - - - Taiwan Taiwanese - - - - 1 LOVD
?/. - c.52C>T r.(?) p.(Leu18Phe) Unknown - association g.119599212G>A g.119728502G>A PVRL1 c.52C>T, p.L18F - PVRL1_000025 risk factor PubMed: Peng 2016 - - Unknown ? 2/103 cases - - - DNA SEQ-NG, SEQ - next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study OFC ? PubMed: Peng 2016 - - - Taiwan Taiwanese - - - - 1 LOVD
+?/. - c.265G>A r.(?) p.(Val89Met) Unknown - likely pathogenic g.119549290C>T - - - PVRL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334T>A r.(?) p.(Ser112Thr) Unknown - association g.119549221A>T g.119678511A>T PVRL1 c.334T>A, p.S112T - PVRL1_000024 risk factor PubMed: Peng 2016 - - Unknown ? 1/103 cases - - - DNA SEQ-NG, SEQ - next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study OFC ? PubMed: Peng 2016 - - - Taiwan Taiwanese - - - - 1 LOVD
?/. - c.401G>A r.(?) p.(Arg134Gln) Unknown - VUS g.119549154C>T - NECTIN1(NM_002855.5):c.401G>A (p.R134Q) - PVRL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.596G>A r.(?) p.(Arg199Gln) Unknown - likely benign g.119548402C>T g.119677692C>T PVRL1(NM_002855.4):c.596G>A (p.(Arg199Gln)) - PVRL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.629G>A r.(?) p.(Arg210His) Unknown - likely pathogenic g.119548369C>T g.119677659C>T NM_002855.4(PVRL1):c.629G>A p.(Arg210His) - PVRL1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-124A 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
?/. - c.677G>T r.(?) p.(Cys226Phe) Unknown - VUS g.119548321C>A g.119677611C>A - - PVRL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.964A>C r.(?) p.(Ile322Leu) Unknown - VUS g.119545908T>G - NECTIN1(NM_002855.5):c.964A>C (p.I322L) - PVRL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.967G>A r.(?) p.(Gly323Ser) Unknown - VUS g.119545905C>T - NECTIN1(NM_002855.5):c.967G>A (p.(Gly323Ser)) - PVRL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973C>T r.(?) p.(Arg325Cys) Unknown - VUS g.119545899G>A - NECTIN1(NM_002855.5):c.973C>T (p.(Arg325Cys)) - PVRL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1019C>A r.(?) p.(Pro340Gln) Unknown - VUS g.119535992G>T - NECTIN1(NM_002855.5):c.1019C>A (p.P340Q) - PVRL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046C>T r.(?) p.(Ala349Val) Unknown - likely benign g.119535965G>A g.119665255G>A PVRL1(NM_002855.4):c.1046C>T (p.(Ala349Val)) - PVRL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123G>A r.(?) p.(Val375Met) Unknown - VUS g.119535888C>T - NECTIN1(NM_002855.5):c.1123G>A (p.V375M) - PVRL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1182C>T r.(?) p.(His394=) Unknown - likely benign g.119535829G>A - NECTIN1(NM_002855.5):c.1182C>T (p.H394=) - PVRL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1328_1333dup r.(?) p.(Glu443_Glu444dup) Unknown - VUS g.119535697_119535702dup g.119664987_119664992dup NECTIN1(NM_002855.5):c.1328_1333dup (p.(Glu443_Glu444dup)), NECTIN1(NM_002855.5):c.1328_1333dupAGGAGG (p.E443_E444dup) - PVRL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1328_1333dup r.(?) p.(Glu443_Glu444dup) Unknown - likely benign g.119535697_119535702dup g.119664987_119664992dup NECTIN1(NM_002855.5):c.1328_1333dup (p.(Glu443_Glu444dup)), NECTIN1(NM_002855.5):c.1328_1333dupAGGAGG (p.E443_E444dup) - PVRL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1331_1332insAGG r.(?) p.(Gly449dup) Unknown - benign g.119535679_119535680insCCT g.119664969_119664970insCCT NECTIN1(NM_002855.5):c.1331_1332insAGG (p.G449dup) - PVRL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1331_1333dup r.(?) p.(Glu444dup) Unknown - benign g.119535700_119535702dup g.119664990_119664992dup NECTIN1(NM_002855.5):c.1331_1333dupAGG (p.E444dup) - PVRL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1331_1333dup r.(?) p.(Glu444dup) Unknown - benign g.119535700_119535702dup g.119664990_119664992dup NECTIN1(NM_002855.5):c.1331_1333dupAGG (p.E444dup) - PVRL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1439G>A r.(?) p.(Gly480Asp) Unknown - VUS g.119535572C>T g.119664862C>T - - PVRL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1465C>T r.(?) p.(Gln489*) Unknown - likely pathogenic g.119535546G>A - - - PVRL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*24813T>G r.(=) p.(=) Unknown - benign g.119510644A>C g.119639934A>C NECTIN1(NM_203285.2):c.1082T>G (p.V361G) - PVRL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*26604C>G r.(=) p.(=) Unknown - VUS g.119508853G>C - NECTIN1(NM_203285.1):c.1332C>G (p.Y444*) - PVRL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*26632C>T r.(=) p.(=) Unknown - likely pathogenic g.119508825G>A - NECTIN1(NM_203285.2):c.1360C>T (p.(Arg454*)) - PVRL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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