All transcript variants in gene CYLD

Information The variants shown are described using the NM_001042355.1 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.87C>T r.(?) p.(Ser29=) - benign g.50783696C>T g.50749785C>T CYLD(NM_015247.2):c.87C>T (p.S29=) - CYLD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.382G>A r.(?) p.(Gly128Ser) - VUS g.50783991G>A g.50750080G>A CYLD(NM_015247.2):c.382G>A (p.G128S) - CYLD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.402G>C r.(?) p.(Gln134His) - VUS g.50784011G>C g.50750100G>C CYLD(NM_015247.2):c.402G>C (p.Q134H) - CYLD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.454_455del r.(?) p.(Leu152ValfsTer14) - pathogenic g.50784063_50784064del g.50750152_50750153del CYLD(NM_015247.2):c.454_455delCT (p.L152Vfs*14) - CYLD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.504+9G>T r.(=) p.(=) - benign g.50784122G>T g.50750211G>T CYLD(NM_015247.2):c.504+9G>T - CYLD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.686del r.(?) p.(Pro229LeufsTer4) - pathogenic g.50785696del g.50751785del CYLD(NM_015247.2):c.686delC (p.P229Lfs*4) - CYLD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.888A>G r.(?) p.(Leu296=) - likely benign g.50788310A>G g.50754399A>G CYLD(NM_015247.2):c.888A>G (p.L296=) - CYLD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.919del r.(?) p.(Val307Ter) - pathogenic g.50810095del g.50776184del CYLD(NM_015247.2):c.928delG (p.V310*) - CYLD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.997A>G r.(?) p.(Lys333Glu) - VUS g.50810173A>G g.50776262A>G CYLD(NM_015247.2):c.1006A>G (p.K336E) - CYLD_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1103C>A r.(?) p.(Ser368Ter) - pathogenic g.50811826C>A g.50777915C>A CYLD(NM_015247.2):c.1112C>A (p.S371*) - CYLD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1283G>A r.(?) p.(Gly428Glu) - likely benign g.50813729G>A g.50779818G>A CYLD(NM_015247.2):c.1292G>A (p.G431E) - CYLD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.1437_1438del r.(?) p.(Pro480PhefsTer16) - pathogenic g.50813883_50813884del g.50779972_50779973del CYLD(NM_015247.2):c.1446_1447delTC (p.P483Ffs*16) - CYLD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1446T>A r.(?) p.(Tyr482Ter) - pathogenic g.50813892T>A g.50779981T>A CYLD(NM_015247.2):c.1455T>A (p.Y485*) - CYLD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1464C>T r.(?) p.(Ile488=) - benign g.50813910C>T g.50779999C>T CYLD(NM_015247.2):c.1473C>T (p.I491=) - CYLD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1509+35del r.(=) p.(=) - benign g.50813990del g.50780079del CYLD(NM_015247.2):c.1518+35delT - CYLD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1510-2A>T r.spl? p.? - pathogenic g.50815155A>T g.50781244A>T CYLD(NM_015247.2):c.1519-2A>T - CYLD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1548_1549dup r.(?) p.(Gly517GlufsTer10) - pathogenic g.50815195_50815196dup g.50781284_50781285dup CYLD(NM_015247.2):c.1557_1558dupAG (p.G520Efs*10) - CYLD_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1628C>T r.(?) p.(Ala543Val) - VUS g.50815275C>T g.50781364C>T CYLD(NM_015247.2):c.1637C>T (p.A546V) - CYLD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1672_1673del r.(?) p.(Leu558SerfsTer8) - pathogenic g.50815319_50815320del g.50781408_50781409del CYLD(NM_015247.2):c.1681_1682delTT (p.L561Sfs*8) - CYLD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1673T>A r.(?) p.(Leu558Ter) - pathogenic g.50815320T>A g.50781409T>A CYLD(NM_015247.2):c.1682T>A (p.L561*) - CYLD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1817+75_1817+76dup r.(=) p.(=) - benign g.50816452_50816453dup g.50782541_50782542dup CYLD(NM_015247.2):c.1826+75_1826+76dupTG - CYLD_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1940+5G>A r.spl? p.? - VUS g.50818367G>A g.50784456G>A CYLD(NM_015247.2):c.1949+5G>A - CYLD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2033-1G>C r.spl? p.? - pathogenic g.50821696G>C g.50787785G>C CYLD(NM_015247.2):c.2042-1G>C - CYLD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2056_2057del r.(?) p.(Leu686ValfsTer34) - pathogenic g.50821720_50821721del g.50787809_50787810del CYLD(NM_015247.2):c.2065_2066delCT (p.L689Vfs*34) - CYLD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2060_2061delinsC r.(?) p.(Phe687SerfsTer5) - pathogenic g.50821724_50821725delinsC g.50787813_50787814delinsC CYLD(NM_015247.2):c.2069_2070delTTinsC (p.F690Sfs*5) - CYLD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2099+1G>A r.spl? p.? - pathogenic g.50821764G>A g.50787853G>A CYLD(NM_015247.2):c.2108+1G>A - CYLD_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2137C>A r.(?) p.(Gln713Lys) - VUS g.50825506C>A g.50791595C>A CYLD(NM_015247.2):c.2146C>A (p.Q716K) - CYLD_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2139A>G r.(?) p.(Gln713=) - VUS g.50825508A>G g.50791597A>G CYLD(NM_015247.2):c.2148A>G (p.Q716=) - CYLD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.2198G>A r.(?) p.(Trp733Ter) - pathogenic g.50825567G>A g.50791656G>A CYLD(NM_015247.2):c.2207G>A (p.W736*) - CYLD_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2232G>C r.(?) p.(Glu744Asp) - VUS g.50825601G>C g.50791690G>C CYLD(NM_015247.2):c.2241G>C (p.E747D) - CYLD_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2232+5G>T r.spl? p.? - VUS g.50825606G>T g.50791695G>T CYLD(NM_015247.2):c.2241+5G>T - CYLD_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2263C>T r.(?) p.(Arg755Ter) - pathogenic g.50826538C>T g.50792627C>T CYLD(NM_015247.2):c.2272C>T (p.R758*) - CYLD_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2296del r.(?) p.(Ile766PhefsTer7) - pathogenic g.50826571del g.50792660del CYLD(NM_015247.2):c.2305delA (p.I769Ffs*7) - CYLD_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2303del r.(?) p.(Pro768LeufsTer5) - pathogenic g.50826578del g.50792667del CYLD(NM_015247.2):c.2312delC (p.P771Lfs*5) - CYLD_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2341+5G>A r.spl? p.? - VUS g.50826621G>A g.50792710G>A CYLD(NM_015247.2):c.2350+5G>A - CYLD_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2342-1G>A r.spl? p.? - pathogenic g.50827456G>A g.50793545G>A CYLD(NM_015247.2):c.2351-1G>A - CYLD_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2354G>A r.(?) p.(Cys785Tyr) - VUS g.50827469G>A g.50793558G>A CYLD(NM_015247.2):c.2363G>A (p.C788Y) - CYLD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2384del r.(?) p.(Glu795GlyfsTer34) - pathogenic g.50827499del g.50793588del CYLD(NM_015247.2):c.2393delA (p.E798Gfs*34) - CYLD_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2403C>T r.(?) p.(Asp801=) - benign g.50827518C>T g.50793607C>T CYLD(NM_015247.2):c.2412C>T (p.D804=) - CYLD_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2408C>T r.(?) p.(Pro803Leu) - likely benign g.50827523C>T g.50793612C>T CYLD(NM_015247.2):c.2417C>T (p.P806L) - CYLD_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2474C>T r.(?) p.(Pro825Leu) - VUS g.50828136C>T g.50794225C>T CYLD(NM_015247.2):c.2483C>T (p.P828L) - CYLD_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.2532G>A r.(?) p.(Trp844Ter) - pathogenic g.50828194G>A g.50794283G>A CYLD(NM_015247.2):c.2541G>A (p.W847*) - CYLD_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2560C>T r.(?) p.(Gln854Ter) - pathogenic g.50828222C>T g.50794311C>T CYLD(NM_015247.2):c.2569C>T (p.Q857*) - CYLD_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2593G>T r.(?) p.(Glu865Ter) - pathogenic g.50828255G>T g.50794344G>T CYLD(NM_015247.2):c.2602G>T (p.E868*) - CYLD_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2614_2618del r.(?) p.(Phe872GlufsTer13) - pathogenic g.50828276_50828280del g.50794365_50794369del CYLD(NM_015247.2):c.2623_2627delTTTGT (p.F875Efs*13) - CYLD_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2646G>A r.(?) p.(Trp882Ter) - pathogenic g.50828308G>A g.50794397G>A CYLD(NM_015247.2):c.2655G>A (p.W885*) - CYLD_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2653_2655del r.(?) p.(Phe885del) - pathogenic g.50828315_50828317del g.50794404_50794406del CYLD(NM_015247.2):c.2662_2664delTTT (p.F888del) - CYLD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2677+11C>T r.(=) p.(=) - likely benign g.50828350C>T g.50794439C>T CYLD(NM_015247.2):c.2686+11C>T - CYLD_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.2797C>T r.(?) p.(Arg933Ter) - pathogenic g.50830354C>T g.50796443C>T CYLD(NM_015247.2):c.2806C>T (p.R936*) - CYLD_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2805G>A r.(?) p.(Leu935=) - likely benign g.50830362G>A g.50796451G>A CYLD(NM_015247.2):c.2814G>A (p.L938=) - CYLD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.2830T>C r.(?) p.(Tyr944His) - VUS g.50830387T>C g.50796476T>C CYLD(NM_015247.2):c.2839T>C (p.Y947H) - CYLD_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*837A>G r.(=) p.(=) - benign g.50831256A>G g.50797345A>G - - CYLD_000055 34 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs3743781 Germline - 34/2794 individuals - 0 - Mohammed Faruq
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