Full data view for gene NUDT22

Information The variants shown are described using the NM_032344.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.-3413C>G r.(?) p.(=) Unknown - benign g.63990505C>G g.64223033C>G FERMT3(NM_178443.3):c.1683-15C>G - FERMT3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3377C>T r.(?) p.(=) Unknown - likely benign g.63990541C>T g.64223069C>T FERMT3(NM_031471.5):c.1692C>T (p.(Asp564=)) - FERMT3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3327T>C r.(?) p.(=) Unknown - likely benign g.63990591T>C g.64223119T>C FERMT3(NM_031471.5):c.1742T>C (p.(Val581Ala)), FERMT3(NM_178443.2):c.1754T>C (p.V585A) - FERMT3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3327T>C r.(?) p.(=) Unknown - VUS g.63990591T>C - FERMT3(NM_031471.5):c.1742T>C (p.(Val581Ala)), FERMT3(NM_178443.2):c.1754T>C (p.V585A) - FERMT3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3261G>A r.(?) p.(=) Unknown - VUS g.63990657G>A - FERMT3(NM_178443.2):c.1820G>A (p.R607Q) - FERMT3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3053C>T r.(?) p.(=) Unknown - likely benign g.63990865C>T g.64223393C>T FERMT3(NM_178443.2):c.1905C>T (p.I635=), FERMT3(NM_178443.3):c.1905C>T (p.I635=) - FERMT3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3053C>T r.(?) p.(=) Unknown - likely benign g.63990865C>T g.64223393C>T FERMT3(NM_178443.2):c.1905C>T (p.I635=), FERMT3(NM_178443.3):c.1905C>T (p.I635=) - FERMT3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3029G>A r.(?) p.(=) Unknown - likely benign g.63990889G>A g.64223417G>A FERMT3(NM_031471.6):c.1917G>A (p.T639=), FERMT3(NM_178443.2):c.1929G>A (p.T643=) - FERMT3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3029G>A r.(?) p.(=) Unknown - likely benign g.63990889G>A - FERMT3(NM_031471.6):c.1917G>A (p.T639=), FERMT3(NM_178443.2):c.1929G>A (p.T643=) - FERMT3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-629del r.(?) p.(=) Unknown - VUS g.63993289del - TRPT1(NM_001033678.3):c.47del (p.(Gly16Valfs*29)) - TRPT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.275G>T r.(?) p.(Gly92Val) Unknown - likely benign g.63994399G>T g.64226927G>T NUDT22(NM_001128612.2):c.275G>T (p.(Gly92Val)) - NUDT22_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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