All transcript variants in gene VPS35

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

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. - c.-4054C>T r.(?) p.(=) - likely pathogenic g.46727099G>A g.46693187G>A ORC6(NM_014321.3):c.449+5G>A - ORC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.-4054C>T r.(?) p.(=) - likely pathogenic g.46727099G>A g.46693187G>A ORC6(NM_014321.3):c.449+5G>A - ORC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.-574A>G r.(?) p.(=) - likely pathogenic g.46723619T>C g.46689707T>C ORC6(NM_014321.3):c.2T>C (p.M1?) - ORC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.-574A>G r.(?) p.(=) - likely pathogenic g.46723619T>C - ORC6(NM_014321.3):c.2T>C (p.M1?) - ORC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-553A>G r.(?) p.(=) - benign g.46723598T>C g.46689686T>C ORC6(NR_037620.1):n.41T>C - ORC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-553A>G r.(?) p.(=) - benign g.46723598T>C g.46689686T>C ORC6(NR_037620.1):n.41T>C - ORC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.915-3del r.spl? p.? - likely benign g.46708588del g.46674676del VPS35(NM_018206.5):c.915-3delT - VPS35_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.915-3dup r.spl? p.? - VUS g.46708588dup g.46674676dup VPS35(NM_018206.4):c.915-3_915-2insT (p.?), VPS35(NM_018206.5):c.915-3dupT - VPS35_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.915-3dup r.spl? p.? - benign g.46708588dup g.46674676dup VPS35(NM_018206.4):c.915-3_915-2insT (p.?), VPS35(NM_018206.5):c.915-3dupT - VPS35_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.915-3dup r.spl? p.? - likely benign g.46708588dup g.46674676dup VPS35(NM_018206.4):c.915-3_915-2insT (p.?), VPS35(NM_018206.5):c.915-3dupT - VPS35_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1035G>A r.(?) p.(Glu345=) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.1145A>G r.(?) p.(Lys382Arg) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.1655A>T r.(?) p.(Lys552Ile) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1905T>G r.(?) p.(Phe635Leu) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.1938= r.(=) p.(His646=) - benign g.46696284G>A g.46662372G>A VPS35(NM_018206.5):c.1938C>T (p.H646=) - VPS35_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1938= r.(=) p.(His646=) - benign g.46696284G>A g.46662372G>A VPS35(NM_018206.5):c.1938C>T (p.H646=) - VPS35_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1938= r.(=) p.(His646=) - benign g.46696284G>A g.46662372G>A VPS35(NM_018206.5):c.1938C>T (p.H646=) - VPS35_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2100A>C r.(?) p.(Leu700=) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.2222A>C r.(?) p.(Gln741Pro) - VUS g.46694553T>G g.46660641T>G VPS35(NM_018206.5):c.2222A>C (p.Q741P) - VPS35_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2241C>T r.(?) p.(Ile747=) - likely benign g.46694534G>A g.46660622G>A VPS35(NM_018206.5):c.2241C>T (p.I747=) - VPS35_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2241C>T r.(?) p.(Ile747=) - likely benign g.46694534G>A g.46660622G>A VPS35(NM_018206.5):c.2241C>T (p.I747=) - VPS35_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.*7A>G r.(=) p.(=) - likely benign g.46694377T>C g.46660465T>C VPS35(NM_018206.5):c.*7A>G - VPS35_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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