Full data view for gene LPO

Information The variants shown are described using the NM_001160102.1 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.76+1076_76+1077del r.(=) p.(=) Unknown - benign g.56321492_56321493del g.58244131_58244132del LPO(NM_006151.3):c.164+50_164+51delAC - LPO_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199A>C r.(?) p.(Lys67Gln) Unknown - likely benign g.56326931A>C - LPO(NM_006151.2):c.448A>C (p.(Lys150Gln)) - LPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304_322del r.(?) p.(Asn102Trpfs*13) Unknown - VUS g.56327036_56327054del - LPO(NM_006151.2):c.553_571delAACGGCTTCCCTCTCCCGC (p.N185Wfs*13) - LPO_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.592G>A r.(?) p.(Gly198Arg) Unknown - VUS g.56329603G>A - LPO(NM_006151.3):c.841G>A (p.(Gly281Arg)) - LPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2684G>T r.(=) p.(=) Unknown - likely benign g.56348039G>T g.58270678G>T MPO(NM_000250.1):c.2216C>A (p.A739D) - MPO_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2726C>T r.(=) p.(=) Unknown - likely benign g.56348081C>T g.58270720C>T MPO(NM_000250.1):c.2174G>A (p.R725Q) - MPO_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2751T>C r.(=) p.(=) Unknown - benign g.56348106T>C g.58270745T>C MPO(NM_000250.1):c.2149A>G (p.I717V) - MPO_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2767G>A r.(=) p.(=) Unknown - benign g.56348122G>A g.58270761G>A MPO(NM_000250.1):c.2133C>T (p.T711=) - MPO_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2871T>G r.(=) p.(=) Unknown - pathogenic g.56348226T>G g.58270865T>G MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2871T>G r.(=) p.(=) Unknown - pathogenic g.56348226T>G g.58270865T>G MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*2871T>G r.(=) p.(=) Unknown - likely pathogenic g.56348226T>G g.58270865T>G MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2871T>G r.(=) p.(=) Unknown - pathogenic g.56348226T>G - MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2875T>G r.(=) p.(=) Unknown - benign g.56348230T>G g.58270869T>G - - MPO_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3852A>G r.(=) p.(=) Unknown - benign g.56349207A>G g.58271846A>G MPO(NM_000250.1):c.1839T>C (p.T613=) - MPO_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4834C>T r.(=) p.(=) Unknown - VUS g.56350189C>T g.58272828C>T MPO(NM_000250.1):c.1712G>A (p.R571Q) - MPO_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4841G>A r.(=) p.(=) Unknown - pathogenic g.56350196G>A g.58272835G>A MPO(NM_000250.1):c.1705C>T (p.R569W), MPO(NM_000250.2):c.1705C>T (p.(Arg569Trp), p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4841G>A r.(=) p.(=) Unknown - pathogenic g.56350196G>A g.58272835G>A MPO(NM_000250.1):c.1705C>T (p.R569W), MPO(NM_000250.2):c.1705C>T (p.(Arg569Trp), p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4841G>A r.(=) p.(=) Unknown - pathogenic g.56350196G>A g.58272835G>A MPO(NM_000250.1):c.1705C>T (p.R569W), MPO(NM_000250.2):c.1705C>T (p.(Arg569Trp), p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4841G>A r.(=) p.(=) Unknown - pathogenic g.56350196G>A - MPO(NM_000250.1):c.1705C>T (p.R569W), MPO(NM_000250.2):c.1705C>T (p.(Arg569Trp), p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5476_*5489del r.(=) p.(=) Unknown - pathogenic g.56350831_56350844del g.58273470_58273483del MPO(NM_000250.1):c.1555_1568delATGGAACCCAACCC (p.M519Pfs*21), MPO(NM_000250.2):c.1555_1568del (p.(Met519ProfsTer21)) - MPO_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5476_*5489del r.(=) p.(=) Unknown - pathogenic g.56350831_56350844del - MPO(NM_000250.1):c.1555_1568delATGGAACCCAACCC (p.M519Pfs*21), MPO(NM_000250.2):c.1555_1568del (p.(Met519ProfsTer21)) - MPO_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5494T>C r.(=) p.(=) Unknown - VUS g.56350849T>C g.58273488T>C MPO(NM_000250.1):c.1547A>G (p.Y516C) - MPO_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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