Full data view for gene VPS35

A Parkinson's disease Mutation Database
Information The variants shown are described using the NM_018206.4 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.-4054C>T r.(?) p.(=) Unknown - likely pathogenic g.46727099G>A g.46693187G>A ORC6(NM_014321.4):c.449+5G>A - ORC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4054C>T r.(?) p.(=) Unknown - likely pathogenic g.46727099G>A - ORC6(NM_014321.4):c.449+5G>A - ORC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-574A>G r.(?) p.(=) Unknown - likely pathogenic g.46723619T>C g.46689707T>C ORC6(NM_014321.3):c.2T>C (p.M1?, p.(Met1?)), ORC6(NM_014321.4):c.2T>C (p.M1?) - ORC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-574A>G r.(?) p.(=) Unknown - likely pathogenic g.46723619T>C - ORC6(NM_014321.3):c.2T>C (p.M1?, p.(Met1?)), ORC6(NM_014321.4):c.2T>C (p.M1?) - ORC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-574A>G r.(?) p.(=) Unknown - likely pathogenic g.46723619T>C - ORC6(NM_014321.3):c.2T>C (p.M1?, p.(Met1?)), ORC6(NM_014321.4):c.2T>C (p.M1?) - ORC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-574A>G r.(?) p.(=) Unknown - likely pathogenic g.46723619T>C - ORC6(NM_014321.3):c.2T>C (p.M1?, p.(Met1?)), ORC6(NM_014321.4):c.2T>C (p.M1?) - ORC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-553A>G r.(?) p.(=) Unknown - benign g.46723598T>C g.46689686T>C - - ORC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915-3del r.spl? p.? Unknown - benign g.46708588del g.46674676del VPS35(NM_018206.6):c.915-3delT - VPS35_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.915-3dup r.spl? p.? Unknown - VUS g.46708588dup g.46674676dup VPS35(NM_018206.4):c.915-3_915-2insT (p.?), VPS35(NM_018206.6):c.915-3dupT - VPS35_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.915-3dup r.spl? p.? Unknown - likely benign g.46708588dup g.46674676dup VPS35(NM_018206.4):c.915-3_915-2insT (p.?), VPS35(NM_018206.6):c.915-3dupT - VPS35_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002A>G r.(?) p.(Thr334=) Unknown - likely benign g.46708485T>C - VPS35(NM_018206.5):c.1002A>G (p.T334=) - VPS35_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1035G>A r.(?) p.(Glu345=) Unknown - likely benign g.46708351C>T g.46674439C>T VPS35(NM_018206.5):c.1035G>A (p.E345=) - VPS35_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1145A>G r.(?) p.(Lys382Arg) Unknown - benign g.46708241T>C g.46674329T>C VPS35(NM_018206.5):c.1145A>G (p.K382R) - VPS35_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1496G>A r.(?) p.(Arg499His) Unknown - likely benign g.46705645C>T - VPS35(NM_018206.5):c.1496G>A (p.R499H) - VPS35_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1655A>T r.(?) p.(Lys552Ile) Unknown - VUS g.46697067T>A g.46663155T>A VPS35(NM_018206.5):c.1655A>T (p.K552I) - VPS35_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 15 c.1858G>A r.(?) p.(Asp620Asn) Paternal (confirmed) - likely pathogenic g.46696364C>T - - - VPS35_000001 - PubMed: Kumar 2012 - - Germline - - - - - DNA SEQ - - PARK - PubMed: Kumar 2012 affected father, paternal uncle, paternal aunt, paternal grandfather all deceased M - Germany white - - - LDopa responsive 1 The Parkinson's Institute - Birgitt Schuele
-?/. - c.1905T>G r.(?) p.(Phe635Leu) Unknown - likely benign g.46696317A>C g.46662405A>C VPS35(NM_018206.5):c.1905T>G (p.F635L) - VPS35_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1938= r.(=) p.(His646=) Unknown - benign g.46696284G>A g.46662372G>A VPS35(NM_018206.5):c.1938C>T (p.H646=), VPS35(NM_018206.6):c.1938C>T (p.H646=) - VPS35_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1938= r.(=) p.(His646=) Unknown - benign g.46696284G>A g.46662372G>A VPS35(NM_018206.5):c.1938C>T (p.H646=), VPS35(NM_018206.6):c.1938C>T (p.H646=) - VPS35_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1938= r.(=) p.(His646=) Unknown - benign g.46696284G>A g.46662372G>A VPS35(NM_018206.5):c.1938C>T (p.H646=), VPS35(NM_018206.6):c.1938C>T (p.H646=) - VPS35_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2018G>T r.(?) p.(Cys673Phe) Unknown - VUS g.46696204C>A - VPS35(NM_018206.5):c.2018G>T (p.C673F) - VPS35_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2100A>C r.(?) p.(Leu700=) Unknown - likely benign g.46695741T>G g.46661829T>G VPS35(NM_018206.5):c.2100A>C (p.L700=) - VPS35_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2210C>T r.(?) p.(Ala737Val) Unknown - likely benign g.46695631G>A - VPS35(NM_018206.5):c.2210C>T (p.A737V) - VPS35_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2222A>C r.(?) p.(Gln741Pro) Unknown - VUS g.46694553T>G g.46660641T>G VPS35(NM_018206.5):c.2222A>C (p.Q741P), VPS35(NM_018206.6):c.2222A>C (p.Q741P) - VPS35_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2222A>C r.(?) p.(Gln741Pro) Unknown - VUS g.46694553T>G - VPS35(NM_018206.5):c.2222A>C (p.Q741P), VPS35(NM_018206.6):c.2222A>C (p.Q741P) - VPS35_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2241C>T r.(?) p.(Ile747=) Unknown - likely benign g.46694534G>A g.46660622G>A VPS35(NM_018206.5):c.2241C>T (p.I747=), VPS35(NM_018206.6):c.2241C>T (p.I747=) - VPS35_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2241C>T r.(?) p.(Ile747=) Unknown - likely benign g.46694534G>A g.46660622G>A VPS35(NM_018206.5):c.2241C>T (p.I747=), VPS35(NM_018206.6):c.2241C>T (p.I747=) - VPS35_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7A>G r.(=) p.(=) Unknown - likely benign g.46694377T>C g.46660465T>C VPS35(NM_018206.5):c.*7A>G - VPS35_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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