Full data view for gene PLXNC1

Information The variants shown are described using the NM_005761.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.913G>A r.(?) p.(Val305Ile) Unknown - likely benign g.94543660G>A g.94149884G>A PLXNC1(NM_005761.2):c.913G>A (p.V305I) - PLXNC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1400C>A r.(?) p.(Ala467Asp) Unknown - VUS g.94580210C>A g.94186434C>A - - PLXNC1_000026 candidate disease gene PubMed: Gostain 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? CMC41 PubMed: Gostain 2020 - M - Canada - - - - - 1 Johan den Dunnen
-?/. - c.2166T>G r.(?) p.(Ser722=) Unknown - likely benign g.94634306T>G g.94240530T>G PLXNC1(NM_005761.2):c.2166T>G (p.S722=) - PLXNC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2180G>A r.(?) p.(Arg727Gln) Unknown - likely pathogenic g.94634320G>A g.94240544G>A NM_005761.2(PLXNC1):c.2180G>A p.(Arg727Gln) - PLXNC1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-521A 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.*4652G>A r.(=) p.(=) Unknown - likely benign g.94703713G>A - CEP83(NM_016122.3):c.1982C>T (p.P661L) - PLXNC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*26540A>G r.(=) p.(=) Unknown - likely benign g.94725601A>G - CEP83(NM_016122.2):c.1582T>C (p.L528=), CEP83(NM_016122.3):c.1582T>C (p.L528=) - PLXNC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*26540A>G r.(=) p.(=) Unknown - likely benign g.94725601A>G - CEP83(NM_016122.2):c.1582T>C (p.L528=), CEP83(NM_016122.3):c.1582T>C (p.L528=) - PLXNC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*30304C>T r.(=) p.(=) Unknown - likely benign g.94729365C>T g.94335589C>T CEP83(NM_016122.2):c.1419G>A (p.Q473=) - PLXNC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*30378A>G r.(=) p.(=) Unknown - likely benign g.94729439A>G - CEP83(NM_016122.3):c.1345T>C (p.(Leu449=)) - PLXNC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*62572T>C r.(=) p.(=) Unknown - VUS g.94761633T>C - CEP83(NM_016122.3):c.1280A>G (p.(Glu427Gly)) - PLXNC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*62574A>T r.(=) p.(=) Unknown - pathogenic g.94761635A>T g.94367859A>T - - PLXNC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*62620A>G r.(=) p.(=) Unknown - likely benign g.94761681A>G - CEP83(NM_016122.3):c.1232T>C (p.M411T) - PLXNC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*62814T>C r.(=) p.(=) Unknown - likely benign g.94761875T>C g.94368099T>C CEP83(NM_016122.2):c.1151A>G (p.K384R), CEP83(NM_016122.3):c.1151A>G (p.K384R) - PLXNC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*62814T>C r.(=) p.(=) Unknown - likely benign g.94761875T>C - CEP83(NM_016122.2):c.1151A>G (p.K384R), CEP83(NM_016122.3):c.1151A>G (p.K384R) - PLXNC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*62845G>A r.(=) p.(=) Unknown - VUS g.94761906G>A - CCDC41(NM_001042399.1):c.1120C>T (p.(Arg374Cys)), CEP83(NM_016122.3):c.1120C>T (p.R374C) - PLXNC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*62845G>A r.(=) p.(=) Unknown - VUS g.94761906G>A - CCDC41(NM_001042399.1):c.1120C>T (p.(Arg374Cys)), CEP83(NM_016122.3):c.1120C>T (p.R374C) - PLXNC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*64731T>C r.(=) p.(=) Unknown - likely benign g.94763792T>C - CEP83(NM_016122.2):c.954A>G (p.S318=) - PLXNC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*70610C>G r.(=) p.(=) Unknown - VUS g.94769671C>G g.94375895C>G CCDC41(NM_001042399.1):c.924G>C (p.(Leu308Phe)) - PLXNC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*70698C>T r.(=) p.(=) Unknown - VUS g.94769759C>T - CEP83(NM_016122.2):c.836G>A (p.R279H) - PLXNC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*70708G>A r.(=) p.(=) Unknown - likely benign g.94769769G>A g.94375993G>A CEP83(NM_016122.3):c.826C>T (p.(Arg276Trp)) - PLXNC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*73611C>T r.(=) p.(=) Unknown - likely benign g.94772672C>T - CEP83(NM_016122.2):c.696G>A (p.A232=) - PLXNC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*73636A>G r.(=) p.(=) Unknown - VUS g.94772697A>G - CEP83(NM_016122.2):c.671T>C (p.L224S) - PLXNC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*73682G>A r.(=) p.(=) Unknown - pathogenic g.94772743G>A g.94378967G>A CEP83(NM_016122.3):c.625C>T (p.R209*) - CEP83_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*73682G>A r.(=) p.(=) Unknown - pathogenic g.94772743G>A g.94378967G>A CEP83(NM_016122.3):c.625C>T (p.R209*) - CEP83_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*73703C>G r.(=) p.(=) Unknown - VUS g.94772764C>G - CEP83(NM_016122.2):c.604G>C (p.D202H), CEP83(NM_016122.3):c.604G>C (p.(Asp202His)) - PLXNC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*73703C>G r.(=) p.(=) Unknown - VUS g.94772764C>G - CEP83(NM_016122.2):c.604G>C (p.D202H), CEP83(NM_016122.3):c.604G>C (p.(Asp202His)) - PLXNC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*73726A>G r.(=) p.(=) Unknown - VUS g.94772787A>G g.94379011A>G - - PLXNC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*73744T>G r.(=) p.(=) Unknown - likely benign g.94772805T>G g.94379029T>G CCDC41(NM_001042399.1):c.563A>C (p.(Glu188Ala)) - PLXNC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*73748G>C r.(=) p.(=) Unknown - VUS g.94772809G>C - CEP83(NM_016122.2):c.559C>G (p.L187V) - PLXNC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*95648dup r.(?) p.(=) Unknown - pathogenic g.94794709dup - CEP83(NM_016122.3):c.466dupA (p.T156Nfs*8) - PLXNC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*97882T>C r.(=) p.(=) Unknown - VUS g.94796943T>C - CEP83(NM_016122.2):c.417+3A>G, CEP83(NM_016122.3):c.417+3A>G - PLXNC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*97882T>C r.(=) p.(=) Unknown - likely benign g.94796943T>C - CEP83(NM_016122.2):c.417+3A>G, CEP83(NM_016122.3):c.417+3A>G - PLXNC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*106574del r.(?) p.(=) Unknown - likely benign g.94805635del - CEP83(NM_016122.3):c.174-5del - PLXNC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*107120G>A r.(=) p.(=) Unknown - VUS g.94806181G>A g.94412405G>A CCDC41(NM_001042399.1):c.86C>T (p.(Ser29Leu)) - PLXNC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*107130C>T r.(=) p.(=) Unknown - likely benign g.94806191C>T - CEP83(NM_016122.2):c.76G>A (p.G26S), CEP83(NM_016122.3):c.76G>A (p.G26S) - PLXNC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*107130C>T r.(=) p.(=) Unknown - likely benign g.94806191C>T - CEP83(NM_016122.2):c.76G>A (p.G26S), CEP83(NM_016122.3):c.76G>A (p.G26S) - PLXNC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*107264C>T r.(=) p.(=) Unknown - VUS g.94806325C>T - CEP83(NM_016122.3):c.-59G>A - PLXNC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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