Unique variants in the GUCY2F gene

Information The variants shown are described using the NM_001522.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.-85-78dup r.(=) p.(=) - VUS g.108719343dup g.109476114dup - - GUCY2F_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.-85-77del r.(=) p.(=) - VUS g.108719327del g.109476098del - - GUCY2F_000004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.88G>A r.(?) p.(Ala30Thr) - VUS g.108719078C>T g.109475849C>T GUCY2F(NM_001522.2):c.88G>A (p.(Ala30Thr)) - GUCY2F_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.136C>T r.(?) p.(Gln46Ter) - VUS g.108719030G>A - GUCY2F(NM_001522.2):c.136C>T (p.Q46*) - GUCY2F_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.201T>G r.(?) p.(Phe67Leu) - likely benign g.108718965A>C - GUCY2F(NM_001522.2):c.201T>G (p.F67L) - GUCY2F_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.256G>C r.(?) p.(Asp86His) - likely benign g.108718910C>G - GUCY2F(NM_001522.2):c.256G>C (p.D86H) - GUCY2F_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.479T>A r.(?) p.(Ile160Asn) - VUS g.108718687A>T g.109475458A>T - - GUCY2F_000028 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.499C>T r.(?) p.(Arg167Trp) - likely benign g.108718667G>A g.109475438G>A GUCY2F(NM_001522.2):c.499C>T (p.R167W) - GUCY2F_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.542A>G r.(?) p.(Lys181Arg) - likely benign g.108718624T>C g.109475395T>C GUCY2F(NM_001522.2):c.542A>G (p.K181R) - GUCY2F_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.688C>T r.(?) p.(Arg230Trp) - VUS g.108718478G>A g.109475249G>A - - GUCY2F_000027 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. 1 - c.730+6T>C r.(=) p.(=) - VUS g.108718430A>G g.109475201A>G GUCY2F(NM_001522.2):c.730+6T>C - GUCY2F_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.841T>C r.(?) p.(Tyr281His) - VUS g.108708562A>G g.109465333A>G GUCY2F(NM_001522.2):c.841T>C (p.(Tyr281His)) - GUCY2F_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.851T>C r.(?) p.(Leu284Pro) - VUS g.108708552A>G g.109465323A>G - - GUCY2F_000026 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
?/. 1 - c.887G>A r.(?) p.(Arg296Gln) - VUS g.108708516C>T g.109465287C>T - - GUCY2F_000025 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - - - Lucy Raymond
-?/. 1 - c.913C>T r.(?) p.(Arg305Trp) - likely benign g.108708490G>A g.109465261G>A GUCY2F(NM_001522.2):c.913C>T (p.R305W) - GUCY2F_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.930A>G r.(?) p.(Ala310=) - likely benign g.108708473T>C g.109465244T>C GUCY2F(NM_001522.2):c.930A>G (p.A310=) - GUCY2F_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.934T>C r.(?) p.(Leu312=) - likely benign g.108708469A>G - GUCY2F(NM_001522.2):c.934T>C (p.L312=) - GUCY2F_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.970T>C r.(?) p.(Tyr324His) - likely benign, VUS g.108708433A>G g.109465204A>G GUCY2F(NM_001522.2):c.970T>C (p.Y324H, p.(Tyr324His)) - GUCY2F_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.994del r.(?) p.(Ala332GlnfsTer32) - VUS g.108708409del g.109465180del GUCY2F(NM_001522.2):c.994delG (p.A332Qfs*32) - GUCY2F_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1121G>A r.(?) p.(Gly374Asp) - likely benign g.108697000C>T - GUCY2F(NM_001522.2):c.1121G>A (p.G374D) - GUCY2F_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1134G>T r.(?) p.(Leu378=) - likely benign g.108696987C>A - GUCY2F(NM_001522.2):c.1134G>T (p.L378=) - GUCY2F_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1140G>T r.(?) p.(Gln380His) - VUS g.108696981C>A g.109453752C>A - - GUCY2F_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-/. 1 - c.1299C>T r.(?) p.(Phe433=) - benign g.108696822G>A g.109453593G>A GUCY2F(NM_001522.2):c.1299C>T (p.F433=) - GUCY2F_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1300G>A r.(?) p.(Gly434Arg) - likely benign g.108696821C>T g.109453592C>T GUCY2F(NM_001522.2):c.1300G>A (p.G434R) - GUCY2F_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1322C>G r.(?) p.(Pro441Arg) - VUS g.108696799G>C g.109453570G>C GUCY2F(NM_001522.2):c.1322C>G (p.P441R) - GUCY2F_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1392C>T r.(?) p.(Ile464=) - likely benign g.108695332G>A g.109452103G>A GUCY2F(NM_001522.2):c.1392C>T (p.I464=) - GUCY2F_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1507C>T r.(?) p.(Pro503Ser) - likely benign g.108691360G>A g.109448131G>A GUCY2F(NM_001522.2):c.1507C>T (p.P503S) - GUCY2F_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1649C>T r.(?) p.(Ser550Leu) - likely benign g.108684632G>A - GUCY2F(NM_001522.2):c.1649C>T (p.S550L) - GUCY2F_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1650A>G r.(?) p.(Ser550=) - likely benign g.108684631T>C - GUCY2F(NM_001522.2):c.1650A>G (p.S550=) - GUCY2F_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1720A>C r.(?) p.(Lys574Gln) - likely benign g.108673607T>G g.109430378T>G GUCY2F(NM_001522.2):c.1720A>C (p.K574Q) - GUCY2F_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1848G>C r.(?) p.(Ser616=) - likely benign g.108652341C>G - GUCY2F(NM_001522.2):c.1848G>C (p.S616=) - GUCY2F_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1883G>A r.(?) p.(Arg628Gln) - VUS g.108652306C>T g.109409077C>T - - GUCY2F_000023 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
?/. 1 - c.1932G>T r.(?) p.(Trp644Cys) - VUS g.108652257C>A g.109409028C>A GUCY2F(NM_001522.2):c.1932G>T (p.W644C) - GUCY2F_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2029G>C r.(?) p.(Val677Leu) - VUS g.108647653C>G g.109404424C>G - - GUCY2F_000022 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.2050C>T r.(=) p.(=) - likely benign g.108647632G>A g.109404403G>A L684L - GUCY2F_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.2124A>C r.(?) p.(Glu708Asp) - likely benign g.108647558T>G g.109404329T>G GUCY2F(NM_001522.2):c.2124A>C (p.E708D) - GUCY2F_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2129T>A r.(?) p.(Leu710Gln) - benign g.108641924A>T g.109398695A>T GUCY2F(NM_001522.2):c.2129T>A (p.L710Q) - GUCY2F_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2203A>G r.(?) p.(Ser735Gly) - VUS g.108641850T>C - GUCY2F(NM_001522.2):c.2203A>G (p.S735G) - GUCY2F_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2237G>A r.(?) p.(Arg746Gln) - VUS g.108641816C>T g.109398587C>T GUCY2F(NM_001522.2):c.2237G>A (p.R746Q) - GUCY2F_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.2380G>A r.(?) p.(Glu794Lys) - likely benign, VUS g.108638614C>T g.109395385C>T GUCY2F(NM_001522.2):c.2380G>A (p.E794K, p.(Glu794Lys)) - GUCY2F_000008 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.2519G>A r.(?) p.(Arg840Gln) - likely benign g.108636190C>T g.109392961C>T GUCY2F(NM_001522.2):c.2519G>A (p.R840Q) - GUCY2F_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2529T>C r.(?) p.(Thr843=) - likely benign g.108636180A>G - GUCY2F(NM_001522.2):c.2529T>C (p.T843=) - GUCY2F_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2588+1G>A r.spl? p.? - VUS g.108636120C>T g.109392891C>T GUCY2F(NM_001522.2):c.2588+1G>A (, p.?) - GUCY2F_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.2588+64del r.(=) p.(=) - VUS g.108636057del g.109392828del - - GUCY2F_000003 - - - - Germline - - - - - Yu Sun
?/. 1 - c.2741C>T r.(?) p.(Thr914Ile) - VUS g.108635180G>A g.109391951G>A GUCY2F(NM_001522.2):c.2741C>T (p.T914I) - GUCY2F_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2800del r.(?) p.(Ala934ProfsTer25) - VUS g.108631874del g.109388645del GUCY2F(NM_001522.2):c.2800delG (p.A934Pfs*25) - GUCY2F_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2834A>G r.(?) p.(Asn945Ser) - benign g.108631840T>C g.109388611T>C GUCY2F(NM_001522.2):c.2834A>G (p.N945S) - GUCY2F_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2917C>A r.(?) p.(Pro973Thr) - likely benign g.108631757G>T g.109388528G>T GUCY2F(NM_001522.2):c.2917C>A (p.P973T) - GUCY2F_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2957-7T>G r.(=) p.(=) - likely benign g.108628518A>C - GUCY2F(NM_001522.2):c.2957-7T>G (p.(=)) - GUCY2F_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2961G>A r.(?) p.(Pro987=) - likely benign g.108628507C>T - GUCY2F(NM_001522.2):c.2961G>A (p.P987=) - GUCY2F_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3221C>A r.(?) p.(Pro1074Gln) - VUS g.108619326G>T g.109376097G>T GUCY2F(NM_001522.2):c.3221C>A (p.P1074Q) - GUCY2F_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3296C>T r.(?) p.(Ala1099Val) - likely benign g.108619159G>A - GUCY2F(NM_001522.2):c.3296C>T (p.A1099V) - GUCY2F_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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