Full data view for gene NODAL

Information The variants shown are described using the NM_018055.4 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

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.-6249C>T r.(?) p.(=) - Unknown - likely benign g.72207672G>A - NODAL(NM_001329906.2):c.-207+8C>T - NODAL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-109T>C r.(?) p.(=) - Unknown - benign g.72201532A>G g.70441776A>G - - NODAL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11A>G r.(?) p.(His4Arg) - Unknown - likely benign g.72201413T>C g.70441657T>C - - NODAL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35C>G r.(?) p.(Ala12Gly) - Unknown - likely benign g.72201389G>C g.70441633G>C NODAL(NM_018055.4):c.35C>G (p.A12G) - NODAL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.127_128dup r.(?) p.(Met44ThrfsTer3) - Unknown - likely pathogenic g.72201296_72201297dup - - - NODAL_000024 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142T>C r.(?) p.(Tyr48His) - Unknown - VUS g.72201282A>G - - - NODAL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165A>G r.(?) p.(Ala55=) - Unknown - likely benign g.72201259T>C - NODAL(NM_018055.4):c.165A>G (p.A55=) - NODAL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.193+12C>T r.(=) p.(=) - Unknown - benign g.72201219G>A g.70441463G>A NODAL(NM_018055.4):c.193+12C>T - NODAL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.193+12C>T r.(=) p.(=) - Unknown - benign g.72201219G>A g.70441463G>A NODAL(NM_018055.4):c.193+12C>T - NODAL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.194-105A>C r.(=) p.(=) - Unknown - benign g.72195844T>G g.70436088T>G - - NODAL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216C>T r.(?) p.(Asn72=) - Unknown - benign g.72195717G>A - NODAL(NM_018055.5):c.216C>T (p.N72=) - NODAL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271G>A r.(?) p.(Ala91Thr) - Unknown - VUS g.72195662C>T - NODAL(NM_018055.5):c.271G>A (p.(Ala91Thr)) - NODAL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.281G>A r.(?) p.(Arg94Gln) - Unknown - likely benign g.72195652C>T - NODAL(NM_018055.4):c.281G>A (p.(Arg94Gln)) - NODAL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.358G>A r.(?) p.(Asp120Asn) - Unknown - likely benign g.72195575C>T g.70435819C>T NODAL(NM_018055.5):c.358G>A (p.D120N) - NODAL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.404A>G r.(?) p.(Asp135Gly) - Unknown - likely benign g.72195529T>C g.70435773T>C NODAL(NM_018055.4):c.404A>G (p.D135G) - NODAL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.494A>G r.(?) p.(His165Arg) - Unknown - benign g.72195439T>C g.70435683T>C NODAL(NM_018055.4):c.494A>G (p.H165R) - NODAL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494A>G r.(?) p.(His165Arg) - Unknown - likely benign g.72195439T>C g.70435683T>C NODAL(NM_018055.4):c.494A>G (p.H165R) - NODAL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494A>G r.(?) p.(His165Arg) - Both (homozygous) - likely benign g.72195439T>C g.70435683T>C His165Arg - NODAL_000003 - - - rs1904589 Germline - - - - - DNA SEQ, SEQ-NG - - HPE Fam2Pat1 PubMed: Drissi 2022 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
-?/. - c.494A>G r.(?) p.(His165Arg) - Both (homozygous) - likely benign g.72195439T>C g.70435683T>C His165Arg - NODAL_000003 - - - rs1904589 Germline - - - - - DNA SEQ, SEQ-NG - - HPE Fam2Pat2 PubMed: Drissi 2022 sister M yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.500G>A r.(?) p.(Gly167Glu) - Unknown - likely benign g.72195433C>T - NODAL(NM_018055.4):c.500G>A (p.(Gly167Glu)) - NODAL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.539G>C r.(?) p.(Cys180Ser) - Unknown - likely benign g.72195394C>G - NODAL(NM_018055.4):c.539G>C (p.C180S) - NODAL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547C>T r.(?) p.(Arg183Trp) - Unknown - VUS g.72195386G>A - NODAL(NM_018055.4):c.547C>T (p.R183W) - NODAL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548G>A r.(?) p.(Arg183Gln) - Parent #1 - VUS g.72195385C>T g.70435629C>T - - NODAL_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894169 Germline - 1/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.586C>T r.(?) p.(Leu196Phe) - Unknown - likely benign g.72195347G>A g.70435591G>A NODAL(NM_018055.5):c.586C>T (p.(Leu196Phe), p.L196F) - NODAL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.586C>T r.(?) p.(Leu196Phe) - Unknown - likely benign g.72195347G>A - NODAL(NM_018055.5):c.586C>T (p.(Leu196Phe), p.L196F) - NODAL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.586C>T r.(?) p.(Leu196Phe) - Unknown - likely benign g.72195347G>A - NODAL(NM_018055.5):c.586C>T (p.(Leu196Phe), p.L196F) - NODAL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588C>G r.(?) p.(Leu196=) - Unknown - likely benign g.72195345G>C g.70435589G>C NODAL(NM_018055.4):c.588C>G (p.L196=) - NODAL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607G>A r.(?) p.(Glu203Lys) - Unknown - likely benign g.72195326C>T g.70435570C>T - - NODAL_000016 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.026 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.607G>A r.(?) p.(Glu203Lys) - Unknown - likely benign g.72195326C>T - NODAL(NM_018055.4):c.607G>A (p.(Glu203Lys)) - NODAL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.707G>A r.(?) p.(Arg236His) - Unknown - VUS g.72195226C>T g.70435470C>T NODAL(NM_018055.4):c.707G>A (p.R236H) - NODAL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.742C>T r.(?) p.(Arg248Trp) - Unknown - VUS g.72195191G>A - - - NODAL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.777C>G r.(?) p.(Ile259Met) - Unknown - VUS g.72195156G>C - - - NODAL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.781T>C r.(?) p.(Trp261Arg) - Unknown - VUS g.72195152A>G - NODAL(NM_018055.5):c.781T>C (p.W261R) - NODAL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.811T>C r.(?) p.(Tyr271His) - Unknown - VUS g.72195122A>G g.70435366A>G NODAL(NM_018055.4):c.811T>C (p.(Tyr271His)) - NODAL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.817G>A r.(?) p.(Ala273Thr) - Maternal (confirmed) - VUS g.72195116C>T g.70435360C>T - - NODAL_000025 - PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS trio HTX Fam9PatII1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Guatemala - - - - 1 Johan den Dunnen
?/. - c.892-3C>G r.spl? p.? - Unknown - VUS g.72192847G>C - NODAL(NM_018055.4):c.892-3C>G - EIF4EBP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.904C>T r.(?) p.(Arg302Cys) - Unknown - VUS g.72192832G>A g.70433076G>A NODAL(NM_018055.5):c.904C>T (p.R302C) - NODAL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924C>T r.(?) p.(Val308=) - Unknown - likely benign g.72192812G>A - NODAL(NM_018055.4):c.924C>T (p.V308=) - EIF4EBP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960G>A r.(?) p.(=) - Unknown - likely benign g.72192776C>T - NODAL(NM_018055.5):c.960G>A (p.P320=) - EIF4EBP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986G>A r.(?) p.(Gly329Asp) - Unknown - VUS g.72192750C>T g.70432994C>T NODAL(NM_018055.4):c.986G>A (p.G329D) - EIF4EBP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986G>A r.(?) p.(Gly329Asp) - Unknown - VUS g.72192750C>T - NODAL(NM_018055.4):c.986G>A (p.G329D) - EIF4EBP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1003C>A r.(?) p.(His335Asn) - Unknown - VUS g.72192733G>T - - - EIF4EBP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1021G>A r.(?) p.(Val341Met) - Unknown - VUS g.72192715C>T g.70432959C>T NODAL(NM_018055.5):c.1021G>A (p.(Val341Met), p.V341M) - EIF4EBP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1021G>A r.(?) p.(Val341Met) - Unknown - VUS g.72192715C>T g.70432959C>T NODAL(NM_018055.5):c.1021G>A (p.(Val341Met), p.V341M) - EIF4EBP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1021G>A r.(?) p.(Val341Met) - Unknown - VUS g.72192715C>T - NODAL(NM_018055.5):c.1021G>A (p.(Val341Met), p.V341M) - EIF4EBP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*722G>C r.(=) p.(=) - Unknown - benign g.72191970C>G g.70432214C>G - - EIF4EBP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*740T>C r.(=) p.(=) - Unknown - benign g.72191952A>G g.70432196A>G - - EIF4EBP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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