Full data view for gene NKX2-5

Information The variants shown are described using the NM_004387.3 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.73C>T r.(?) p.(Arg25Cys) Unknown - benign g.172662014G>A g.173235011G>A NKX2-5(NM_001166175.1):c.73C>T (p.(Arg25Cys)), NKX2-5(NM_001166175.2):c.73C>T (p.R25C), NKX2-5(NM_004387.4):c.73C>T (p.R25C) - NKX2-5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.73C>T r.(?) p.(Arg25Cys) Unknown - benign g.172662014G>A g.173235011G>A NKX2-5(NM_001166175.1):c.73C>T (p.(Arg25Cys)), NKX2-5(NM_001166175.2):c.73C>T (p.R25C), NKX2-5(NM_004387.4):c.73C>T (p.R25C) - NKX2-5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Abou Hassan 2015 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Abou Hassan 2015 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Akçaboy 2008 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Akçaboy 2008 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Beffagna 2013 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Beffagna 2013 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Belvís 2009 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Belvís 2009 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Benson 1999 - - Unknown - 0.00708 - - - DNA SEQ - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Benson 1999 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Costa 2013 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Costa 2013 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: De Luca 2011 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: De Luca 2011 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Dentice 2006 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Dentice 2006 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Esposito 2009 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Esposito 2009 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Freudenberg-Hua 2014 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Freudenberg-Hua 2014 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Gioli-Pereira 2010 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Gioli-Pereira 2010 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Goldmuntz 2001 - - Unknown - 0.00708 - - - DNA SEQ - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Goldmuntz 2001 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Kasahara 2000 - - Unknown - 0.00708 - - - DNA SEQ - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Kasahara 2000 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Khatami 2017 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Khatami 2017 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: McElhinney 2003 - - Unknown - 0.00708 - - - DNA SEQ - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: McElhinney 2003 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Porto 2010 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Porto 2010 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Pulignani 2018 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Pulignani 2018 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Rauch 2010 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Rauch 2010 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Reamon-Buettner 2004 - - Unknown - 0.00708 - - - DNA SEQ - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Reamon-Buettner 2004 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Reamon-Buettner 2004 - - Unknown - 0.00708 - - - DNA SEQ - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Reamon-Buettner 2004 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Salazar 2011 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Salazar 2011 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Stallmeyer 2010 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Stallmeyer 2010 - - - - - - - - - 1 Liliana Dain
+?/. 1 c.73C>T r.(?) p.Arg25Cys Unknown - likely pathogenic g.172662014G>A g.173235011G>A - - NKX2-5_000040 rs28936670 PubMed: Vega 2016 - - Unknown - 0.00708 - - - DNA SEQ-NG - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - PubMed: Vega 2016 - - - - - - - - - 1 Liliana Dain
?/. - c.73C>T r.(?) p.(Arg25Cys) Unknown - VUS g.172662014G>A - NKX2-5(NM_001166175.1):c.73C>T (p.(Arg25Cys)), NKX2-5(NM_001166175.2):c.73C>T (p.R25C), NKX2-5(NM_004387.4):c.73C>T (p.R25C) - NKX2-5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.73C>T r.(?) p.(Arg25Cys) Unknown - likely benign g.172662014G>A - NKX2-5(NM_001166175.1):c.73C>T (p.(Arg25Cys)), NKX2-5(NM_001166175.2):c.73C>T (p.R25C), NKX2-5(NM_004387.4):c.73C>T (p.R25C) - NKX2-5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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