Unique variants in gene CNKSR2

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

58 entries on 1 page. Showing entries 1 - 58.
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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 4 c.(453dup) pathogenic (recessive) r.(?) p.(Asp152Argfs*8) g.21458833dup - Asp152Argfs*8 - CNKSR2_000027 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.65-4G>A likely benign r.spl? p.? g.21444611G>A - CNKSR2(NM_014927.4):c.65-4G>A - CNKSR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.136C>T VUS r.(?) p.(Arg46Cys) g.21444686C>T - CNKSR2(NM_014927.4):c.136C>T (p.R46C) - CNKSR2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.298C>T - r.(?) p.(Gln100*) g.21450799C>T - - - CNKSR2_000023 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.431+8C>T likely benign r.(=) p.(=) g.21450940C>T - CNKSR2(NM_014927.4):c.431+8C>T - CNKSR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.514C>T likely pathogenic r.(?) p.(Gln172*) g.21458894C>T - - - CNKSR2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.520-5T>C benign r.spl? p.? g.21488879T>C - CNKSR2(NM_014927.4):c.520-5T>C - CNKSR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.533A>T likely benign r.(?) p.(Tyr178Phe) g.21488897A>T - CNKSR2(NM_014927.4):c.533A>T (p.Y178F) - CNKSR2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.561+15A>G likely benign r.(=) p.(=) g.21488940A>G - CNKSR2(NM_014927.4):c.561+15A>G - CNKSR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.562-5T>C benign r.spl? p.? g.21508572T>C - CNKSR2(NM_014927.4):c.562-5T>C - CNKSR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 6 c.592A>G - r.(?) p.(Ile198Val) g.21508607A>G - I198V - CNKSR2_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 6 c.651A>G - r.(?) p.(=) g.21508666A>G - Q217Q - CNKSR2_000025 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.673G>A likely benign r.(?) p.(Glu225Lys) g.21508688G>A - CNKSR2(NM_014927.4):c.673G>A (p.E225K) - CNKSR2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.741+180del likely benign r.(=) p.(=) g.21516144del - CNKSR2(NM_014927.4):c.741+180delT - CNKSR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.811-93del - - p.(=) g.21534510del g.21516392del - - CNKSR2_000001 - - - - Germline - - - - - Yu Sun
-/. 1 - c.811-92T>C benign r.(=) p.(=) g.21534511T>C - CNKSR2(NM_014927.4):c.811-92T>C - CNKSR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.811-83del benign r.(=) p.(=) g.21534520del - CNKSR2(NM_014927.4):c.811-83delT - CNKSR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1092-5T>C benign r.spl? p.? g.21549969T>C - CNKSR2(NM_014927.4):c.1092-5T>C - CNKSR2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1140G>A likely benign r.(?) p.(=) g.21550022G>A - CNKSR2(NM_014927.4):c.1140G>A (p.V380=) - CNKSR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1297A>G likely benign r.(?) p.(Thr433Ala) g.21550179A>G - CNKSR2(NM_014927.4):c.1297A>G (p.T433A) - CNKSR2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1345G>C likely benign r.(?) p.(Val449Leu) g.21579630G>C - CNKSR2(NM_014927.4):c.1345G>C (p.V449L) - CNKSR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1480A>T likely pathogenic r.(?) p.(Lys494*) g.21581442A>T - CNKSR2(NM_014927.4):c.1480A>T (p.K494*) - CNKSR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1657+20C>T benign r.(=) p.(=) g.21608758C>T - CNKSR2(NM_014927.4):c.1657+20C>T - CNKSR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1677C>T likely benign r.(?) p.(=) g.21609159C>T - CNKSR2(NM_014927.4):c.1677C>T (p.S559=) - CNKSR2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1904+46del benign r.(=) p.(=) g.21613211del - CNKSR2(NM_014927.4):c.1904+46delT - CNKSR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1905-9C>A likely benign r.(=) p.(=) g.21613433C>A - CNKSR2(NM_014927.4):c.1905-9C>A - CNKSR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.2134C>T likely pathogenic r.(?) p.(Arg712*) g.21624986C>T - - - CNKSR2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2296C>T VUS r.(?) p.(Arg766Cys) g.21627339C>T - - - CNKSR2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.2304G>A likely pathogenic r.(?) p.(Trp768*) g.21627347G>A - - - CNKSR2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2398A>G likely benign r.(?) p.(Ile800Val) g.21627441A>G - CNKSR2(NM_001168647.1):c.2308A>G (p.(Ile770Val)) - CNKSR2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 3 - c.2411A>G likely benign, VUS r.(?) p.(His804Arg) g.21627454A>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 likely benign r.(?) p.(=) g.21627492C>T - CNKSR2(NM_014927.4):c.2449C>T (p.L817=) - CNKSR2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2472C>T likely benign r.(?) p.(=) g.21627515C>T - CNKSR2(NM_014927.4):c.2472C>T (p.Y824=) - CNKSR2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.2545C>T likely pathogenic r.(?) p.(Arg849*) g.21627588C>T - CNKSR2(NM_014927.4):c.2545C>T (p.R849*) - CNKSR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2553C>T likely benign r.(?) p.(=) g.21627596C>T - CNKSR2(NM_014927.4):c.2553C>T (p.S851=) - CNKSR2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2561A>C VUS r.(?) p.(Asn854Thr) g.21627604A>C - - - CNKSR2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 20 c.2598C>G - r.(?) p.(Asp866Glu) g.21627641C>G - D866E - CNKSR2_000026 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-/. 1 - c.2610C>T benign r.(?) p.(=) g.21627653C>T - CNKSR2(NM_014927.4):c.2610C>T (p.D870=) - CNKSR2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2693-7461G>A benign r.(=) p.(=) g.21659488G>A - CNKSR2(NM_014927.4):c.2693-7461G>A - CNKSR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2693-7G>T likely benign r.(=) p.(=) g.21666942G>T - CNKSR2(NM_001168647.1):c.2603-7G>T (p.(=)) - CNKSR2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2723C>T VUS r.(?) p.(Ser908Leu) g.21666979C>T - CNKSR2(NM_014927.4):c.2723C>T (p.S908L) - CNKSR2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2983G>A benign r.(?) p.(Asp995Asn) g.21670517G>A - CNKSR2(NM_014927.4):c.2983G>A (p.D995N) - CNKSR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3065C>T VUS r.(?) p.(Ser1022Phe) g.21670599C>T - CNKSR2(NM_014927.4):c.3065C>T (p.S1022F) - CNKSR2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*3666T>C VUS r.(=) p.(=) g.21674305T>C - KLHL34(NM_153270.2):c.1602A>G (p.R534=) - CNKSR2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*3755C>A likely benign r.(=) p.(=) g.21674394C>A - KLHL34(NM_153270.1):c.1513G>T (p.(Val505Phe)) - CNKSR2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*3898C>T likely benign r.(=) p.(=) g.21674537C>T - KLHL34(NM_153270.2):c.1370G>A (p.G457E) - KLHL34_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4112C>T likely benign r.(=) p.(=) g.21674751C>T - KLHL34(NM_153270.2):c.1156G>A (p.D386N) - CNKSR2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*4138G>A VUS r.(=) p.(=) g.21674777G>A - KLHL34(NM_153270.1):c.1130C>T (p.(Ser377Phe)) - KLHL34_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4186A>G likely benign r.(=) p.(=) g.21674825A>G - KLHL34(NM_153270.2):c.1082T>C (p.V361A) - CNKSR2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4258A>C likely benign r.(=) p.(=) g.21674897A>C - KLHL34(NM_153270.1):c.1010T>G (p.(Val337Gly)) - CNKSR2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*4360C>T benign r.(=) p.(=) g.21674999C>T - KLHL34(NM_153270.3):c.908G>A (p.R303K) - CNKSR2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4439T>C likely benign r.(=) p.(=) g.21675078T>C - KLHL34(NM_153270.2):c.829A>G (p.S277G) - CNKSR2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*4471G>A VUS r.(=) p.(=) g.21675110G>A - KLHL34(NM_153270.2):c.797C>T (p.P266L) - KLHL34_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*4777C>T VUS r.(=) p.(=) g.21675416C>T - KLHL34(NM_153270.1):c.491G>A (p.(Arg164Gln)) - KLHL34_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4795A>G likely benign r.(=) p.(=) g.21675434A>G - KLHL34(NM_153270.1):c.473T>C (p.(Leu158Ser)) - KLHL34_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4888G>C likely benign r.(=) p.(=) g.21675527G>C - KLHL34(NM_153270.2):c.380C>G (p.A127G) - CNKSR2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*5032C>T VUS r.(=) p.(=) g.21675671C>T - KLHL34(NM_153270.2):c.236G>A (p.G79D) - CNKSR2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*5237G>A VUS r.(=) p.(=) g.21675876G>A - KLHL34(NM_153270.1):c.31C>T (p.(His11Tyr)) - KLHL34_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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