Unique variants in gene VPS35

Information The variants shown are described using the NM_018206.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+?/. 1 - c.-4054C>T likely pathogenic r.(?) p.(=) g.46727099G>A - ORC6L(NM_014321.2):c.449+5G>A (p.?) - ORC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-3251A>T likely benign r.(?) p.(=) g.46726296T>A - ORC6(NM_014321.3):c.198T>A (p.(=)) - ORC6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.-574A>G likely pathogenic r.(?) p.(=) g.46723619T>C - ORC6L(NM_014321.2):c.2T>C (p.Met1?) - ORC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.-553A>G benign r.(?) p.(=) g.46723598T>C - ORC6(NR_037620.1):c.41T>C, ORC6L(NM_014321.2):c.-20T>C (p.?) - ORC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
-?/. 1 - c.915-3del likely benign r.spl? p.? g.46708588del - VPS35(NM_018206.4):c.915-3delT - VPS35_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -/., -?/. 3 - c.915-3dup VUS, benign, likely benign r.spl? p.? g.46708588dup - VPS35(NM_018206.4):c.915-3_915-2insT, VPS35(NM_018206.4):c.915-3_915-2insT (p.?) - VPS35_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC, VKGL-NL_VUmc
-?/. 1 - c.915-2A>T likely benign r.spl? p.? g.46708574T>A - VPS35(NM_018206.4):c.915-2delinsT (p.?) - VPS35_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.915-1G>T likely benign r.spl? p.? g.46708573C>A - VPS35(NM_018206.4):c.915-1G>T (p.?) - VPS35_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.915A>T likely benign r.(?) p.(Arg305Ser) g.46708572T>A - VPS35(NM_018206.4):c.915A>T (p.(Arg305Ser)) - VPS35_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1035G>A likely benign r.(?) p.(=) g.46708351C>T - VPS35(NM_018206.5):c.1035G>A (p.E345=) - VPS35_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1145A>G benign r.(?) p.(Lys382Arg) g.46708241T>C - VPS35(NM_018206.5):c.1145A>G (p.K382R) - VPS35_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1655A>T VUS r.(?) p.(Lys552Ile) g.46697067T>A - VPS35(NM_018206.5):c.1655A>T (p.K552I) - VPS35_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1905T>G likely benign r.(?) p.(Phe635Leu) g.46696317A>C - VPS35(NM_018206.5):c.1905T>G (p.F635L) - VPS35_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1938C>T benign r.(?) p.(=) g.46696284G>A - VPS35(NM_018206.4):c.1938C>T (p.=) - VPS35_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_Groningen
?/. 1 - c.2222A>C VUS r.(?) p.(Gln741Pro) g.46694553T>G - VPS35(NM_018206.5):c.2222A>C (p.Q741P) - VPS35_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2241C>T likely benign r.(?) p.(=) g.46694534G>A - VPS35(NM_018206.4):c.2241C>T (p.=) - VPS35_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*7A>G likely benign r.(=) p.(=) g.46694377T>C - VPS35(NM_018206.4):c.*7A>G - VPS35_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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