Unique variants in gene EXOSC6

Information The variants shown are described using the NM_058219.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
Legend  

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     
-?/. 3 - c.-3929C>T likely benign r.(?) p.(=) g.70289732G>A - AARS(NM_001605.2):c.2185C>T (p.R729W) - AARS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 - c.-3917C>T VUS r.(?) p.(=) g.70289720G>A - AARS(NM_001605.2):c.2197C>T (p.H733Y) - AARS_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3897C>T likely benign r.(?) p.(=) g.70289700G>A - AARS(NM_001605.2):c.2217C>T (p.I739=) - AARS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.-3863A>G likely pathogenic r.(?) p.(=) g.70289666T>C - AARS(NM_001605.2):c.2251A>G (p.R751G) - AARS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-2080A>G likely benign r.(?) p.(=) g.70287883T>C - AARS(NM_001605.2):c.2459A>G (p.K820R) - AARS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 3 - c.-1903C>T likely benign r.(?) p.(=) g.70287706G>A - AARS(NM_001605.2):c.2521-3C>T - AARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.-1900G>A VUS r.(?) p.(=) g.70287703C>T - - - AARS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-1841G>A likely benign r.(?) p.(=) g.70287644C>T - AARS(NM_001605.2):c.2580G>A (p.L860=) - AARS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-1408A>G likely benign r.(?) p.(=) g.70287211T>C - AARS(NM_001605.2):c.2681A>G (p.N894S) - AARS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.-1374T>C benign r.(?) p.(=) g.70287177A>G - AARS(NM_001605.2):c.2715T>C (p.V905=) - AARS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.-1373C>G likely benign r.(?) p.(=) g.70287176G>C - AARS(NM_001605.2):c.2716C>G (p.(Pro906Ala)) - AARS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., -/. 2 - c.-937G>A likely benign, benign r.(?) p.(=) g.70286740C>T - AARS(NM_001605.2):c.2791G>A (p.G931S) - AARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 2 - c.-828A>T benign, likely benign r.(?) p.(=) g.70286631T>A - AARS(NM_001605.2):c.2900A>T (p.K967M) - AARS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
-?/. 1 - c.28G>T likely benign r.(?) p.(Gly10Cys) g.70285776C>A - EXOSC6(NM_058219.2):c.28G>T (p.(Gly10Cys)) - AARS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.404G>A VUS r.(?) p.(Arg135His) g.70285400C>T - EXOSC6(NM_058219.2):c.404G>A (p.(Arg135His)) - EXOSC6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.404G>C VUS r.(?) p.(Arg135Pro) g.70285400C>G - EXOSC6(NM_058219.2):c.404G>C (p.(Arg135Pro)) - EXOSC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend