Unique variants in gene CNKSR2

Information The variants shown are described using the NM_014927.3 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

Reported     

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     
-?/. 1 - c.65-4G>A r.spl? p.? - likely benign g.21444611G>A g.21426493G>A CNKSR2(NM_014927.4):c.65-4G>A - CNKSR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.136C>T r.(?) p.(Arg46Cys) - VUS g.21444686C>T g.21426568C>T CNKSR2(NM_014927.4):c.136C>T (p.R46C) - CNKSR2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.298C>T r.(?) p.(Gln100*) - pathogenic g.21450799C>T g.21432681C>T - - CNKSR2_000023 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.431+8C>T r.(=) p.(=) - likely benign g.21450940C>T g.21432822C>T CNKSR2(NM_014927.4):c.431+8C>T - CNKSR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.(453dup) r.(?) p.(Asp152Argfs*8) - pathogenic (recessive) g.21458833dup g.21440715dup Asp152Argfs*8 - CNKSR2_000027 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.514C>T r.(?) p.(Gln172Ter) - likely pathogenic g.21458894C>T g.21440776C>T - - CNKSR2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.520-5T>C r.spl? p.? - benign g.21488879T>C g.21470761T>C CNKSR2(NM_014927.4):c.520-5T>C - CNKSR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.533A>T r.(?) p.(Tyr178Phe) - likely benign g.21488897A>T g.21470779A>T CNKSR2(NM_014927.4):c.533A>T (p.Y178F) - CNKSR2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.561+15A>G r.(=) p.(=) - likely benign g.21488940A>G g.21470822A>G CNKSR2(NM_014927.4):c.561+15A>G - CNKSR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.562-5T>C r.spl? p.? - benign g.21508572T>C g.21490454T>C CNKSR2(NM_014927.4):c.562-5T>C - CNKSR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 6 c.592A>G r.(?) p.(Ile198Val) - VUS g.21508607A>G g.21490489A>G I198V - CNKSR2_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 6 c.651A>G r.(?) p.(=) - likely benign g.21508666A>G g.21490548A>G Q217Q - CNKSR2_000025 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.673G>A r.(?) p.(Glu225Lys) - likely benign g.21508688G>A g.21490570G>A CNKSR2(NM_014927.4):c.673G>A (p.E225K) - CNKSR2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.741+180del r.(=) p.(=) - likely benign g.21516144del g.21498026del CNKSR2(NM_014927.4):c.741+180delT - CNKSR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.811-93del r.(=) p.(=) - VUS g.21534510del g.21516392del - - CNKSR2_000001 - - - - Germline - - - - - Yu Sun
-/. 1 - c.811-92T>C r.(=) p.(=) - benign g.21534511T>C g.21516393T>C CNKSR2(NM_014927.4):c.811-92T>C - CNKSR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.811-83del r.(=) p.(=) - benign g.21534520del g.21516402del CNKSR2(NM_014927.4):c.811-83delT - CNKSR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.924G>C r.(?) p.(Leu308=) - likely benign g.21534716G>C - CNKSR2(NM_014927.4):c.924G>C (p.L308=) - CNKSR2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.950C>A r.(?) p.(Ala317Asp) - VUS g.21534742C>A - CNKSR2(NM_014927.4):c.950C>A (p.A317D) - CNKSR2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1092-5T>C r.spl? p.? - benign g.21549969T>C g.21531851T>C CNKSR2(NM_014927.4):c.1092-5T>C - CNKSR2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1140G>A r.(?) p.(Val380=) - likely benign g.21550022G>A g.21531904G>A CNKSR2(NM_014927.4):c.1140G>A (p.V380=) - CNKSR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1297A>G r.(?) p.(Thr433Ala) - likely benign g.21550179A>G g.21532061A>G CNKSR2(NM_014927.4):c.1297A>G (p.T433A) - CNKSR2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1345G>C r.(?) p.(Val449Leu) - likely benign g.21579630G>C g.21561512G>C CNKSR2(NM_014927.4):c.1345G>C (p.V449L) - CNKSR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1480A>T r.(?) p.(Lys494Ter) - likely pathogenic g.21581442A>T g.21563324A>T CNKSR2(NM_014927.4):c.1480A>T (p.K494*) - CNKSR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1657+20C>T r.(=) p.(=) - benign g.21608758C>T g.21590640C>T CNKSR2(NM_014927.4):c.1657+20C>T - CNKSR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.1677C>T r.(?) p.(Ser559=) - likely benign g.21609159C>T g.21591041C>T CNKSR2(NM_014927.4):c.1677C>T (p.S559=) - CNKSR2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.1904+46del r.(=) p.(=) - benign g.21613211del g.21595093del CNKSR2(NM_014927.4):c.1904+46delT - CNKSR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1905-9C>A r.(=) p.(=) - likely benign g.21613433C>A g.21595315C>A CNKSR2(NM_014927.4):c.1905-9C>A - CNKSR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2134C>T r.(?) p.(Arg712Ter) - likely pathogenic g.21624986C>T g.21606868C>T - - CNKSR2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2296C>T r.(?) p.(Arg766Cys) - VUS g.21627339C>T g.21609221C>T - - CNKSR2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.2304G>A r.(?) p.(Trp768Ter) - likely pathogenic g.21627347G>A g.21609229G>A - - CNKSR2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2398A>G r.(?) p.(Ile800Val) - likely benign g.21627441A>G g.21609323A>G CNKSR2(NM_001168647.1):c.2308A>G (p.(Ile770Val)) - CNKSR2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 - c.2411A>G r.(?) p.(His804Arg) - likely benign, VUS g.21627454A>G g.21609336A>G CNKSR2(NM_001168647.1):c.2321A>G (p.(His774Arg)), CNKSR2(NM_014927.4):c.2411A>G (p.H804R) - CNKSR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Leiden
-?/. 1 - c.2449C>T r.(?) p.(Leu817=) - likely benign g.21627492C>T g.21609374C>T CNKSR2(NM_014927.4):c.2449C>T (p.L817=) - CNKSR2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2472C>T r.(?) p.(Tyr824=) - likely benign g.21627515C>T g.21609397C>T CNKSR2(NM_014927.4):c.2472C>T (p.Y824=) - CNKSR2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.2545C>T r.(?) p.(Arg849Ter) - likely pathogenic g.21627588C>T g.21609470C>T CNKSR2(NM_014927.4):c.2545C>T (p.R849*) - CNKSR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2553C>T r.(?) p.(Ser851=) - likely benign g.21627596C>T g.21609478C>T CNKSR2(NM_014927.4):c.2553C>T (p.S851=) - CNKSR2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2561A>C r.(?) p.(Asn854Thr) - VUS g.21627604A>C g.21609486A>C - - CNKSR2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 20 c.2598C>G r.(?) p.(Asp866Glu) - VUS g.21627641C>G g.21609523C>G D866E - CNKSR2_000026 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-/. 1 - c.2610C>T r.(?) p.(Asp870=) - benign g.21627653C>T g.21609535C>T CNKSR2(NM_014927.4):c.2610C>T (p.D870=) - CNKSR2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2693-7461G>A r.(=) p.(=) - benign g.21659488G>A g.21641370G>A CNKSR2(NM_014927.4):c.2693-7461G>A - CNKSR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2693-7G>T r.(=) p.(=) - likely benign g.21666942G>T g.21648824G>T CNKSR2(NM_001168647.1):c.2603-7G>T (p.(=)) - CNKSR2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2723C>T r.(?) p.(Ser908Leu) - VUS g.21666979C>T g.21648861C>T CNKSR2(NM_014927.4):c.2723C>T (p.S908L) - CNKSR2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.2983G>A r.(?) p.(Asp995Asn) - benign g.21670517G>A g.21652399G>A CNKSR2(NM_014927.4):c.2983G>A (p.D995N) - CNKSR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.3065C>T r.(?) p.(Ser1022Phe) - VUS g.21670599C>T g.21652481C>T CNKSR2(NM_014927.4):c.3065C>T (p.S1022F) - CNKSR2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3645G>C r.(=) p.(=) - likely benign g.21674284G>C g.21656166G>C KLHL34(NM_153270.1):c.1623C>G (p.(Ile541Met)) - KLHL34_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*3666T>C r.(=) p.(=) - VUS g.21674305T>C g.21656187T>C KLHL34(NM_153270.2):c.1602A>G (p.R534=) - CNKSR2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3755C>A r.(=) p.(=) - likely benign g.21674394C>A g.21656276C>A KLHL34(NM_153270.1):c.1513G>T (p.(Val505Phe)) - CNKSR2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3898C>T r.(=) p.(=) - likely benign g.21674537C>T g.21656419C>T KLHL34(NM_153270.2):c.1370G>A (p.G457E) - KLHL34_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4112C>T r.(=) p.(=) - likely benign g.21674751C>T g.21656633C>T KLHL34(NM_153270.2):c.1156G>A (p.D386N) - CNKSR2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*4138G>A r.(=) p.(=) - VUS g.21674777G>A g.21656659G>A KLHL34(NM_153270.1):c.1130C>T (p.(Ser377Phe)) - KLHL34_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*4186A>G r.(=) p.(=) - likely benign g.21674825A>G g.21656707A>G KLHL34(NM_153270.2):c.1082T>C (p.V361A) - CNKSR2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4258A>C r.(=) p.(=) - likely benign g.21674897A>C g.21656779A>C KLHL34(NM_153270.1):c.1010T>G (p.(Val337Gly)) - CNKSR2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*4360C>T r.(=) p.(=) - benign g.21674999C>T g.21656881C>T KLHL34(NM_153270.3):c.908G>A (p.R303K) - CNKSR2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*4439T>C r.(=) p.(=) - likely benign g.21675078T>C g.21656960T>C KLHL34(NM_153270.2):c.829A>G (p.S277G) - CNKSR2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*4471G>A r.(=) p.(=) - VUS g.21675110G>A g.21656992G>A KLHL34(NM_153270.2):c.797C>T (p.P266L) - KLHL34_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*4777C>T r.(=) p.(=) - VUS g.21675416C>T g.21657298C>T KLHL34(NM_153270.1):c.491G>A (p.(Arg164Gln)) - KLHL34_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*4795A>G r.(=) p.(=) - likely benign g.21675434A>G g.21657316A>G KLHL34(NM_153270.1):c.473T>C (p.(Leu158Ser)) - KLHL34_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*4888G>C r.(=) p.(=) - likely benign g.21675527G>C g.21657409G>C KLHL34(NM_153270.2):c.380C>G (p.A127G) - CNKSR2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*5032C>T r.(=) p.(=) - VUS g.21675671C>T g.21657553C>T KLHL34(NM_153270.2):c.236G>A (p.G79D) - CNKSR2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*5237G>A r.(=) p.(=) - VUS g.21675876G>A g.21657758G>A KLHL34(NM_153270.1):c.31C>T (p.(His11Tyr)) - KLHL34_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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