Unique variants in gene CYLD

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

51 entries on 1 page. Showing entries 1 - 51.
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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 - c.87C>T benign r.(?) p.(=) g.50783696C>T - CYLD(NM_015247.2):c.87C>T (p.=) - CYLD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.382G>A VUS r.(?) p.(Gly128Ser) g.50783991G>A - CYLD(NM_015247.2):c.382G>A (p.G128S) - CYLD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.402G>C VUS r.(?) p.(Gln134His) g.50784011G>C - CYLD(NM_015247.2):c.402G>C (p.Q134H) - CYLD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.454_455del pathogenic r.(?) p.(Leu152Valfs*14) g.50784063_50784064del - CYLD(NM_015247.2):c.454_455delCT (p.L152Vfs*14) - CYLD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.504+9G>T benign r.(=) p.(=) g.50784122G>T - CYLD(NM_015247.2):c.504+9G>T - CYLD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.686del pathogenic r.(?) p.(Pro229Leufs*4) g.50785696del - CYLD(NM_015247.2):c.686delC (p.P229Lfs*4) - CYLD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.888A>G likely benign r.(?) p.(=) g.50788310A>G - CYLD(NM_015247.2):c.888A>G (p.=) - CYLD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.919del pathogenic r.(?) p.(Val307*) g.50810095del - CYLD(NM_015247.2):c.928delG (p.V310*) - CYLD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.997A>G VUS r.(?) p.(Lys333Glu) g.50810173A>G - CYLD(NM_015247.2):c.1006A>G (p.K336E) - CYLD_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1103C>A pathogenic r.(?) p.(Ser368*) g.50811826C>A - CYLD(NM_015247.2):c.1112C>A (p.S371*) - CYLD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1283G>A likely benign r.(?) p.(Gly428Glu) g.50813729G>A - CYLD(NM_015247.2):c.1292G>A (p.G431E) - CYLD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1437_1438del pathogenic r.(?) p.(Pro480Phefs*16) g.50813883_50813884del - CYLD(NM_015247.2):c.1446_1447delTC (p.P483Ffs*16) - CYLD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1446T>A pathogenic r.(?) p.(Tyr482*) g.50813892T>A - CYLD(NM_015247.2):c.1455T>A (p.Y485*) - CYLD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1464C>T benign r.(?) p.(=) g.50813910C>T - CYLD(NM_015247.2):c.1473C>T (p.=) - CYLD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1509+35del benign r.(=) p.(=) g.50813990del - CYLD(NM_015247.2):c.1518+35delT - CYLD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1510-2A>T pathogenic r.spl? p.? g.50815155A>T - CYLD(NM_015247.2):c.1519-2A>T - CYLD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1548_1549dup pathogenic r.(?) p.(Gly517Glufs*10) g.50815195_50815196dup - CYLD(NM_015247.2):c.1557_1558dupAG (p.G520Efs*10) - CYLD_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1628C>T VUS r.(?) p.(Ala543Val) g.50815275C>T - CYLD(NM_015247.2):c.1637C>T (p.A546V) - CYLD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1672_1673del pathogenic r.(?) p.(Leu558Serfs*8) g.50815319_50815320del - CYLD(NM_015247.2):c.1681_1682delTT (p.L561Sfs*8) - CYLD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1673T>A pathogenic r.(?) p.(Leu558*) g.50815320T>A - CYLD(NM_015247.2):c.1682T>A (p.L561*) - CYLD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1817+75_1817+76dup benign r.(=) p.(=) g.50816452_50816453dup - CYLD(NM_015247.2):c.1826+74_1826+75insTG - CYLD_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1940+5G>A VUS r.spl? p.? g.50818367G>A - CYLD(NM_015247.2):c.1949+5G>A - CYLD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2033-1G>C pathogenic r.spl? p.? g.50821696G>C - CYLD(NM_015247.2):c.2042-1G>C - CYLD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2056_2057del pathogenic r.(?) p.(Leu686Valfs*34) g.50821720_50821721del - CYLD(NM_015247.2):c.2065_2066delCT (p.L689Vfs*34) - CYLD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2060_2061delinsC pathogenic r.(?) p.(Phe687Serfs*5) g.50821724_50821725delinsC - CYLD(NM_015247.2):c.2069_2070delTTinsC (p.F690Sfs*5) - CYLD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2099+1G>A pathogenic r.spl? p.? g.50821764G>A - CYLD(NM_015247.2):c.2108+1G>A - CYLD_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2137C>A VUS r.(?) p.(Gln713Lys) g.50825506C>A - CYLD(NM_015247.2):c.2146C>A (p.Q716K) - CYLD_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2139A>G VUS r.(?) p.(=) g.50825508A>G - CYLD(NM_015247.2):c.2148A>G (p.=) - CYLD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2198G>A pathogenic r.(?) p.(Trp733*) g.50825567G>A - CYLD(NM_015247.2):c.2207G>A (p.W736*) - CYLD_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2232G>C VUS r.(?) p.(Glu744Asp) g.50825601G>C - CYLD(NM_015247.2):c.2241G>C (p.E747D) - CYLD_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2232+5G>T VUS r.spl? p.? g.50825606G>T - CYLD(NM_015247.2):c.2241+5G>T - CYLD_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2263C>T pathogenic r.(?) p.(Arg755*) g.50826538C>T - CYLD(NM_015247.2):c.2272C>T (p.R758*) - CYLD_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2296del pathogenic r.(?) p.(Ile766Phefs*7) g.50826571del - CYLD(NM_015247.2):c.2305delA (p.I769Ffs*7) - CYLD_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2303del pathogenic r.(?) p.(Pro768Leufs*5) g.50826578del - CYLD(NM_015247.2):c.2312delC (p.P771Lfs*5) - CYLD_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2341+5G>A VUS r.spl? p.? g.50826621G>A - CYLD(NM_015247.2):c.2350+5G>A - CYLD_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2342-1G>A pathogenic r.spl? p.? g.50827456G>A - CYLD(NM_015247.2):c.2351-1G>A - CYLD_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2354G>A VUS r.(?) p.(Cys785Tyr) g.50827469G>A - CYLD(NM_015247.2):c.2363G>A (p.C788Y) - CYLD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2384del pathogenic r.(?) p.(Glu795Glyfs*34) g.50827499del - CYLD(NM_015247.2):c.2393delA (p.E798Gfs*34) - CYLD_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2403C>T benign r.(?) p.(=) g.50827518C>T - CYLD(NM_015247.2):c.2412C>T (p.=) - CYLD_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2408C>T likely benign r.(?) p.(Pro803Leu) g.50827523C>T - CYLD(NM_015247.2):c.2417C>T (p.P806L) - CYLD_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2474C>T VUS r.(?) p.(Pro825Leu) g.50828136C>T - CYLD(NM_015247.2):c.2483C>T (p.P828L) - CYLD_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2532G>A pathogenic r.(?) p.(Trp844*) g.50828194G>A - CYLD(NM_015247.2):c.2541G>A (p.W847*) - CYLD_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2560C>T pathogenic r.(?) p.(Gln854*) g.50828222C>T - CYLD(NM_015247.2):c.2569C>T (p.Q857*) - CYLD_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2593G>T pathogenic r.(?) p.(Glu865*) g.50828255G>T - CYLD(NM_015247.2):c.2602G>T (p.E868*) - CYLD_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2614_2618del pathogenic r.(?) p.(Phe872Glufs*13) g.50828276_50828280del - CYLD(NM_015247.2):c.2623_2627delTTTGT (p.F875Efs*13) - CYLD_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2646G>A pathogenic r.(?) p.(Trp882*) g.50828308G>A - CYLD(NM_015247.2):c.2655G>A (p.W885*) - CYLD_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2653_2655del pathogenic r.(?) p.(Phe885del) g.50828315_50828317del - CYLD(NM_015247.2):c.2662_2664delTTT (p.F888del) - CYLD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2677+11C>T likely benign r.(=) p.(=) g.50828350C>T - CYLD(NM_015247.2):c.2686+11C>T - CYLD_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2797C>T pathogenic r.(?) p.(Arg933*) g.50830354C>T - CYLD(NM_015247.2):c.2806C>T (p.R936*) - CYLD_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2805G>A likely benign r.(?) p.(=) g.50830362G>A - CYLD(NM_015247.2):c.2814G>A (p.=) - CYLD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2830T>C VUS r.(?) p.(Tyr944His) g.50830387T>C - CYLD(NM_015247.2):c.2839T>C (p.Y947H) - CYLD_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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