Full data view for gene UFD1L

Information The variants shown are described using the NM_001035247.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.-2363954_*598976dup r.? p.? Unknown - pathogenic (recessive) g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-1997511_*415100del r.0? p.0? Unknown - pathogenic (recessive) g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-1997511_*544700del r.0? p.0? Unknown - pathogenic (recessive) g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-1997511_*549224del r.0? p.0? Unknown - pathogenic (recessive) g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.-4925C>A r.(?) p.(=) Unknown - VUS g.19471533G>T - CDC45(NM_001178010.2):c.486+5G>T - UFD1L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4910C>A r.(?) p.(=) Unknown - VUS g.19471518G>T - CDC45(NM_003504.5):c.476G>T (p.(Arg159Leu)) - UFD1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4903G>A r.(?) p.(=) Unknown - VUS g.19471511C>T g.19483988C>T CDC45(NM_001178010.2):c.469C>T (p.R157C), CDC45(NM_003504.5):c.469C>T (p.(Arg157Cys)) - UFD1L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4903G>A r.(?) p.(=) Unknown - VUS g.19471511C>T - CDC45(NM_001178010.2):c.469C>T (p.R157C), CDC45(NM_003504.5):c.469C>T (p.(Arg157Cys)) - UFD1L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3718G>A r.(?) p.(=) Unknown - VUS g.19470326C>T - CDC45(NM_001178010.2):c.318C>T (p.V106=) - UFD1L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3641C>T r.(?) p.(=) Unknown - likely benign g.19470249G>A g.19482726G>A CDC45(NM_001178010.1):c.241G>A (p.(Val81Ile)), CDC45(NM_001178010.2):c.241G>A (p.V81I) - UFD1L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3641C>T r.(?) p.(=) Unknown - benign g.19470249G>A - CDC45(NM_001178010.1):c.241G>A (p.(Val81Ile)), CDC45(NM_001178010.2):c.241G>A (p.V81I) - UFD1L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1889C>T r.(?) p.(=) Unknown - VUS g.19468497G>A - CDC45(NM_003504.4):c.133G>A (p.(Val45Met)) - UFD1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1088C>A r.(?) p.(=) Unknown - VUS g.19467696G>T - CDC45(NM_003504.5):c.67G>T (p.(Val23Leu)) - UFD1L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-902G>C r.(?) p.(=) Unknown - likely benign g.19467510C>G - CDC45(NM_001178010.1):c.19C>G (p.(Arg7Gly)) - UFD1L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.291+986G>A r.(=) p.(=) Unknown - benign g.19458224C>T g.19470701C>T UFD1(NM_005659.7):c.291+986G>A - UFD1L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.422+20G>A r.(=) p.(=) Unknown - benign g.19455376C>T g.19467853C>T UFD1(NM_005659.7):c.422+20G>A - UFD1L_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.508C>G r.(?) p.(Arg170Gly) Unknown - VUS g.19445650G>C - UFD1L(NM_005659.6):c.508C>G (p.(Arg170Gly)) - UFD1L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2992dup r.(?) p.(=) Unknown - VUS g.19435274dup g.19447751dup C22orf39(NM_001166242.1):c.52_53insT (p.?) - C22orf39_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3017C>T r.(=) p.(=) Unknown - VUS g.19435246G>A - C22ORF39(NM_173793.4):c.77C>T (p.(Thr26Ile)) - C22orf39_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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