All variants in the KCNK9 gene

Information The variants shown are described using the NM_016601.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.96C>G r.(?) p.(Asp32Glu) - likely benign g.140715140G>C - KCNK9(NM_001282534.1):c.96C>G (p.D32E) - KCNK9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.149G>A r.(?) p.(Gly50Glu) - likely benign g.140715087C>T g.139702844C>T KCNK9(NM_001282534.2):c.149G>A (p.G50E) - KCNK9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.162C>T r.(?) p.(Ile54=) - likely benign g.140715074G>A g.139702831G>A KCNK9(NM_001282534.1):c.162C>T (p.I54=) - KCNK9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.186G>A r.(?) p.(Leu62=) - likely benign g.140715050C>T g.139702807C>T KCNK9(NM_001282534.1):c.186G>A (p.L62=) - KCNK9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.270C>G r.(?) p.(Val90=) - likely benign g.140714966G>C g.139702723G>C KCNK9(NM_001282534.1):c.270C>G (p.V90=) - KCNK9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.283+4A>G r.spl? p.? - VUS g.140714949T>C - KCNK9(NM_001282534.1):c.283+4A>G - KCNK9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.284-10C>G r.(=) p.(=) - benign g.140631352G>C g.139619109G>C KCNK9(NM_001282534.1):c.284-10C>G - KCNK9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.375C>T r.(?) p.(Phe125=) - likely benign g.140631251G>A g.139619008G>A KCNK9(NM_001282534.1):c.375C>T (p.F125=) - KCNK9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.413A>G r.(?) p.(Tyr138Cys) - VUS g.140631213T>C g.139618970T>C KCNK9(NM_001282534.1):c.413A>G (p.Y138C) - KCNK9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.422A>G r.(?) p.(Lys141Arg) - likely benign g.140631204T>C g.139618961T>C KCNK9(NM_001282534.1):c.422A>G (p.K141R) - KCNK9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.427A>G r.(?) p.(Ile143Val) - likely benign g.140631199T>C - KCNK9(NM_001282534.1):c.427A>G (p.I143V) - KCNK9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.448C>T r.(?) p.(Arg150Cys) - VUS g.140631178G>A g.139618935G>A KCNK9(NM_016601.2):c.448C>T (p.(Arg150Cys)) - KCNK9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.491T>G r.(?) p.(Phe164Cys) - VUS g.140631135A>C g.139618892A>C - - KCNK9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.564C>T r.(?) p.(His188=) - likely benign g.140631062G>A g.139618819G>A KCNK9(NM_001282534.1):c.564C>T (p.H188=) - KCNK9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.615C>T r.(?) p.(Tyr205=) - likely benign g.140631011G>A - KCNK9(NM_001282534.1):c.615C>T (p.Y205=) - KCNK9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.636T>C r.(?) p.(Gly212=) - benign g.140630990A>G g.139618747A>G KCNK9(NM_001282534.2):c.636T>C (p.G212=) - KCNK9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.636T>C r.(?) p.(Gly212=) - benign g.140630990A>G g.139618747A>G KCNK9(NM_001282534.2):c.636T>C (p.G212=) - KCNK9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.637G>A r.(?) p.(Ala213Thr) - VUS g.140630989C>T - KCNK9(NM_001282534.1):c.637G>A (p.A213T) - KCNK9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.685C>T r.(?) p.(Leu229=) - likely benign g.140630941G>A g.139618698G>A KCNK9(NM_001282534.1):c.685C>T (p.L229=) - KCNK9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.699G>A r.(?) p.(Thr233=) - likely benign g.140630927C>T g.139618684C>T KCNK9(NM_001282534.1):c.699G>A (p.T233=) - KCNK9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.706G>A r.(?) p.(Gly236Arg) - VUS g.140630920C>T g.139618677C>T - - KCNK9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.706G>A r.(?) p.(Gly236Arg) - likely pathogenic (dominant) g.140630920C>T - - - KCNK9_000008 - - - - De novo - - - - - Alejandro Brea-Fernández
-?/. - c.864G>A r.(?) p.(Ala288=) - likely benign g.140630762C>T g.139618519C>T KCNK9(NM_001282534.1):c.864G>A (p.A288=) - KCNK9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.872C>T r.(?) p.(Pro291Leu) - VUS g.140630754G>A - - - KCNK9_000024 - PubMed: Marcogliese 2018 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.894C>A r.(?) p.(Ser298=) - likely benign g.140630732G>T g.139618489G>T KCNK9(NM_001282534.1):c.894C>A (p.S298=) - KCNK9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.926G>C r.(?) p.(Gly309Ala) - likely benign g.140630700C>G g.139618457C>G KCNK9(NM_001282534.1):c.926G>C (p.G309A) - KCNK9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.973C>G r.(?) p.(His325Asp) - likely benign g.140630653G>C - KCNK9(NM_001282534.1):c.973C>G (p.H325D) - KCNK9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1003G>A r.(?) p.(Glu335Lys) - VUS g.140630623C>T - KCNK9(NM_001282534.1):c.1003G>A (p.E335K) - KCNK9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1008G>A r.(?) p.(Glu336=) - likely benign g.140630618C>T - KCNK9(NM_001282534.1):c.1008G>A (p.E336=) - KCNK9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1065T>G r.(?) p.(Ser355=) - likely benign g.140630561A>C g.139618318A>C KCNK9(NM_001282534.1):c.1065T>G (p.S355=) - KCNK9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1113G>C r.(?) p.(Arg371=) - likely benign g.140630513C>G - KCNK9(NM_001282534.1):c.1113G>C (p.R371=) - KCNK9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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