Full data view for gene NCDN

Information The variants shown are described using the NM_014284.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.175-10C>G r.(=) p.(=) Unknown - VUS g.36025917C>G - - - KIAA0319L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.213A>T r.(?) p.(Lys71Asn) Unknown - VUS g.36025965A>T - NCDN(NM_014284.3):c.213A>T (p.(Lys71Asn)) - KIAA0319L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.574_590dup r.(?) p.(Leu199Thrfs*81) Unknown - likely pathogenic g.36026326_36026342dup - NCDN(NM_014284.2):c.574_590dupTTTGACCAGGCCCTGGC (p.(Leu199fs)) - KIAA0319L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757G>A r.(?) p.(Val253Met) Unknown - VUS g.36026509G>A - NCDN(NM_014284.3):c.757G>A (p.(Val253Met)) - KIAA0319L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1297G>A r.(?) p.(Glu433Lys) Unknown - VUS g.36028146G>A - NCDN(NM_014284.3):c.1297G>A (p.(Glu433Lys)) - NCDN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1297G>C r.(?) p.(Glu433Gln) Both (homozygous) - likely pathogenic (recessive) g.36028146G>C g.35562545G>C - - NCDN_000001 - PubMed: Fatima 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatII1 PubMed: Fatima 2021 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents M yes Pakistan - - - - - 3 Johan den Dunnen
+?/. - c.1297G>C r.(?) p.(Glu433Gln) Both (homozygous) - likely pathogenic (recessive) g.36028146G>C g.35562545G>C - - NCDN_000001 - PubMed: Fatima 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatII2 PubMed: Fatima 2021 sister F yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.1297G>C r.(?) p.(Glu433Gln) Both (homozygous) - likely pathogenic (recessive) g.36028146G>C g.35562545G>C - - NCDN_000001 - PubMed: Fatima 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatII3 PubMed: Fatima 2021 sister F yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.1433G>A r.(?) p.(Arg478Gln) Unknown - likely pathogenic (dominant) g.36028850G>A g.35563249G>A Arg478Glu - NCDN_000002 - PubMed: Fatima 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Fam2PatII1 PubMed: Fatima 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Johan den Dunnen
+?/. - c.1492T>C r.(?) p.(Trp498Arg) Unknown - likely pathogenic (dominant) g.36028909T>C g.35563308T>C - - NCDN_000003 - PubMed: Fatima 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Fam3PatII1 PubMed: Fatima 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
?/. - c.1585G>A r.(?) p.(Val529Met) Unknown - VUS g.36029002G>A - NCDN(NM_014284.2):c.1585G>A (p.(Val529Met)) - NCDN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1955C>T r.(?) p.(Pro652Leu) Unknown - likely pathogenic (dominant) g.36031029C>T g.35565428C>T - - NCDN_000004 - PubMed: Fatima 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Fam4PatII1 PubMed: Fatima 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 Johan den Dunnen
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