Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20291 single nucleotide variant CYLD, NT2469, G-A, +1 -1 MedGen:C1851526,OMIM:132700 na -1 -1 na na 20292 single nucleotide variant NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter) 121908388 MedGen:C1851526,OMIM:132700;MedGen:CN169374 16 50826538 50826538 C T 20292 single nucleotide variant NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter) 121908388 MedGen:C1851526,OMIM:132700;MedGen:CN169374 16 50792627 50792627 C T 20293 deletion CYLD, 1-BP DEL, 2253G -1 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 na -1 -1 na na 20294 deletion CYLD, 1-BP DEL, 2172A -1 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 na -1 -1 na na 20295 deletion CYLD, 2-BP DEL, 2241AG -1 MedGen:C1275122,OMIM:601606,Orphanet:ORPHA867,SNOMED CT:C1275122 na -1 -1 na na 20296 single nucleotide variant CYLD, IVS12AS, T-G, +2 -1 MedGen:C1275122,OMIM:601606,Orphanet:ORPHA867,SNOMED CT:C1275122 na -1 -1 na na 20297 single nucleotide variant NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) 121908389 MedGen:C1275122,OMIM:601606,Orphanet:ORPHA867,SNOMED CT:C1275122;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50825600 50825600 A G 20297 single nucleotide variant NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) 121908389 MedGen:C1275122,OMIM:601606,Orphanet:ORPHA867,SNOMED CT:C1275122;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50791689 50791689 A G 20298 single nucleotide variant NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) 121908390 MedGen:C1851526,OMIM:132700;MedGen:C1275122,OMIM:601606,Orphanet:ORPHA867,SNOMED CT:C1275122;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50830354 50830354 C T 20298 single nucleotide variant NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) 121908390 MedGen:C1851526,OMIM:132700;MedGen:C1275122,OMIM:601606,Orphanet:ORPHA867,SNOMED CT:C1275122;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50796443 50796443 C T 20299 duplication CYLD, 1-BP DUP, 561T -1 MedGen:C1851526,OMIM:132700 na -1 -1 na na 20300 duplication CYLD, 1-BP DUP, 1392T -1 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 na -1 -1 na na 20301 deletion CYLD, 4-BP DEL, 1950-1GATA -1 MedGen:C1851526,OMIM:132700 na -1 -1 na na 137694 single nucleotide variant NM_015247.2(CYLD):c.1933G>A (p.Val645Ile) 587778223 MedGen:CN169374 16 50818346 50818346 G A 137694 single nucleotide variant NM_015247.2(CYLD):c.1933G>A (p.Val645Ile) 587778223 MedGen:CN169374 16 50784435 50784435 G A 137695 single nucleotide variant NM_015247.2(CYLD):c.344A>G (p.Asn115Ser) 587778224 MedGen:CN169374 16 50783953 50783953 A G 137695 single nucleotide variant NM_015247.2(CYLD):c.344A>G (p.Asn115Ser) 587778224 MedGen:CN169374 16 50750042 50750042 A G 137696 single nucleotide variant NM_015247.2(CYLD):c.665C>A (p.Thr222Lys) 587778225 MedGen:CN169374 16 50785675 50785675 C A 137696 single nucleotide variant NM_015247.2(CYLD):c.665C>A (p.Thr222Lys) 587778225 MedGen:CN169374 16 50751764 50751764 C A 137697 single nucleotide variant NM_015247.2(CYLD):c.988G>C (p.Gly330Arg) 587778226 MedGen:CN169374 16 50810155 50810155 G C 137697 single nucleotide variant NM_015247.2(CYLD):c.988G>C (p.Gly330Arg) 587778226 MedGen:CN169374 16 50776244 50776244 G C 137698 single nucleotide variant NM_015247.2(CYLD):c.1292G>A (p.Gly431Glu) 200494719 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099;MedGen:CN169374 16 50813729 50813729 G A 137698 single nucleotide variant NM_015247.2(CYLD):c.1292G>A (p.Gly431Glu) 200494719 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099;MedGen:CN169374 16 50779818 50779818 G A 139249 single nucleotide variant NM_015247.2(CYLD):c.2041+50C>A 13338860 MedGen:CN169374 16 50820907 50820907 C A 139249 single nucleotide variant NM_015247.2(CYLD):c.2041+50C>A 13338860 MedGen:CN169374 16 50786996 50786996 C A 262107 deletion NM_015247.2(CYLD):c.831_834delTGGA (p.Asp277Glufs) 886040868 MedGen:C1851526,OMIM:132700 16 50754342 50754345 TGGA - 262107 deletion NM_015247.2(CYLD):c.831_834delTGGA (p.Asp277Glufs) 886040868 MedGen:C1851526,OMIM:132700 16 50788253 50788256 TGGA - 262108 duplication NM_015247.2(CYLD):c.911dupC (p.Ala305Serfs) 886040869 MedGen:C1851526,OMIM:132700 16 50754422 50754422 C CC 262108 duplication NM_015247.2(CYLD):c.911dupC (p.Ala305Serfs) 886040869 MedGen:C1851526,OMIM:132700 16 50788333 50788333 C CC 262109 deletion NM_015247.2(CYLD):c.968_977delCAAGAGGTGT (p.Ser323Leufs) 886040870 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50776224 50776233 CAAGAGGTGT - 262109 deletion NM_015247.2(CYLD):c.968_977delCAAGAGGTGT (p.Ser323Leufs) 886040870 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50810135 50810144 CAAGAGGTGT - 262110 duplication NM_015247.2(CYLD):c.987_988dupAG (p.Gly330Glufs) 886040871 MedGen:C1851526,OMIM:132700 16 50776243 50776244 AG AGAG 262110 duplication NM_015247.2(CYLD):c.987_988dupAG (p.Gly330Glufs) 886040871 MedGen:C1851526,OMIM:132700 16 50810154 50810155 AG AGAG 262111 single nucleotide variant NM_015247.2(CYLD):c.1112C>A (p.Ser371Ter) 886040872 MedGen:C1851526,OMIM:132700 16 50777915 50777915 C A 262111 single nucleotide variant NM_015247.2(CYLD):c.1112C>A (p.Ser371Ter) 886040872 MedGen:C1851526,OMIM:132700 16 50811826 50811826 C A 262112 single nucleotide variant NM_015247.2(CYLD):c.1327C>T (p.Gln443Ter) 764952788 MedGen:C1851526,OMIM:132700 16 50779853 50779853 C T 262112 single nucleotide variant NM_015247.2(CYLD):c.1327C>T (p.Gln443Ter) 764952788 MedGen:C1851526,OMIM:132700 16 50813764 50813764 C T 262113 single nucleotide variant NM_015247.2(CYLD):c.1363C>T (p.Gln455Ter) 886040873 MedGen:C1851526,OMIM:132700 16 50779889 50779889 C T 262113 single nucleotide variant NM_015247.2(CYLD):c.1363C>T (p.Gln455Ter) 886040873 MedGen:C1851526,OMIM:132700 16 50813800 50813800 C T 262114 duplication NM_015247.2(CYLD):c.1537dupT (p.Cys513Leufs) 886040874 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50781264 50781264 T TT 262114 duplication NM_015247.2(CYLD):c.1537dupT (p.Cys513Leufs) 886040874 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50815175 50815175 T TT 262115 duplication NM_015247.2(CYLD):c.1599dupT (p.Val534Cysfs) 886040875 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50781326 50781326 T TT 262115 duplication NM_015247.2(CYLD):c.1599dupT (p.Val534Cysfs) 886040875 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50815237 50815237 T TT 262116 deletion NM_015247.2(CYLD):c.1658_1661delATCA (p.Asn553Argfs) 886040876 MedGen:C1851526,OMIM:132700 16 50781385 50781388 ATCA - 262116 deletion NM_015247.2(CYLD):c.1658_1661delATCA (p.Asn553Argfs) 886040876 MedGen:C1851526,OMIM:132700 16 50815296 50815299 ATCA - 262117 single nucleotide variant NM_015247.2(CYLD):c.1684G>C (p.Ala562Pro) 886040877 MedGen:C1851526,OMIM:132700 16 50781411 50781411 G C 262117 single nucleotide variant NM_015247.2(CYLD):c.1684G>C (p.Ala562Pro) 886040877 MedGen:C1851526,OMIM:132700 16 50815322 50815322 G C 262118 single nucleotide variant NM_015247.2(CYLD):c.1684+3A>C 886040878 MedGen:C1851526,OMIM:132700 16 50781414 50781414 A C 262118 single nucleotide variant NM_015247.2(CYLD):c.1684+3A>C 886040878 MedGen:C1851526,OMIM:132700 16 50815325 50815325 A C 262119 single nucleotide variant NM_015247.2(CYLD):c.1771A>T (p.Lys591Ter) 886040879 MedGen:C1851526,OMIM:132700 16 50782411 50782411 A T 262119 single nucleotide variant NM_015247.2(CYLD):c.1771A>T (p.Lys591Ter) 886040879 MedGen:C1851526,OMIM:132700 16 50816322 50816322 A T 262120 single nucleotide variant NM_015247.2(CYLD):c.1778G>A (p.Gly593Asp) 886040880 MedGen:C1851526,OMIM:132700 16 50782418 50782418 G A 262120 single nucleotide variant NM_015247.2(CYLD):c.1778G>A (p.Gly593Asp) 886040880 MedGen:C1851526,OMIM:132700 16 50816329 50816329 G A 262121 deletion NM_015247.2(CYLD):c.1950-5_1950-2delCTTA 886040881 MedGen:C1275122,OMIM:601606,Orphanet:ORPHA867,SNOMED CT:C1275122 16 50786850 50786853 CTTA - 262121 deletion NM_015247.2(CYLD):c.1950-5_1950-2delCTTA 886040881 MedGen:C1275122,OMIM:601606,Orphanet:ORPHA867,SNOMED CT:C1275122 16 50820761 50820764 CTTA - 262122 deletion NM_015247.2(CYLD):c.1950-2_1953delAGATAT 886040882 MedGen:C1851526,OMIM:132700 16 50786853 50786858 AGATAT - 262122 deletion NM_015247.2(CYLD):c.1950-2_1953delAGATAT 886040882 MedGen:C1851526,OMIM:132700 16 50820764 50820769 AGATAT - 262123 single nucleotide variant NM_015247.2(CYLD):c.2041G>C (p.Asp681His) 886040883 MedGen:C1851526,OMIM:132700 16 50786946 50786946 G C 262123 single nucleotide variant NM_015247.2(CYLD):c.2041G>C (p.Asp681His) 886040883 MedGen:C1851526,OMIM:132700 16 50820857 50820857 G C 262124 single nucleotide variant NM_015247.2(CYLD):c.2108G>A (p.Arg703Lys) 886040884 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50787852 50787852 G A 262124 single nucleotide variant NM_015247.2(CYLD):c.2108G>A (p.Arg703Lys) 886040884 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50821763 50821763 G A 262125 duplication NM_015247.2(CYLD):c.2138_2139dupAC (p.Phe714Thrfs) 886040885 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50791587 50791588 AC ACAC 262125 duplication NM_015247.2(CYLD):c.2138_2139dupAC (p.Phe714Thrfs) 886040885 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50825498 50825499 AC ACAC 262126 single nucleotide variant NM_015247.2(CYLD):c.2242-2A>G 886040886 MedGen:C1851526,OMIM:132700 16 50792595 50792595 A G 262126 single nucleotide variant NM_015247.2(CYLD):c.2242-2A>G 886040886 MedGen:C1851526,OMIM:132700 16 50826506 50826506 A G 262127 deletion NM_015247.2(CYLD):c.2291_2295delAACTA (p.Lys764Ilefs) 886040887 MedGen:C1851526,OMIM:132700 16 50792646 50792650 AACTA - 262127 deletion NM_015247.2(CYLD):c.2291_2295delAACTA (p.Lys764Ilefs) 886040887 MedGen:C1851526,OMIM:132700 16 50826557 50826561 AACTA - 262128 single nucleotide variant NM_015247.2(CYLD):c.2299A>T (p.Lys767Ter) 886040888 MedGen:C1851526,OMIM:132700 16 50792654 50792654 A T 262128 single nucleotide variant NM_015247.2(CYLD):c.2299A>T (p.Lys767Ter) 886040888 MedGen:C1851526,OMIM:132700 16 50826565 50826565 A T 262129 single nucleotide variant NM_015247.2(CYLD):c.2342T>C (p.Leu781Pro) 886040889 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50826608 50826608 T C 262129 single nucleotide variant NM_015247.2(CYLD):c.2342T>C (p.Leu781Pro) 886040889 MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493 16 50792697 50792697 T C 262130 single nucleotide variant NM_015247.2(CYLD):c.2350+1G>T 886040890 MedGen:C1851526,OMIM:132700 16 50792706 50792706 G T 262130 single nucleotide variant NM_015247.2(CYLD):c.2350+1G>T 886040890 MedGen:C1851526,OMIM:132700 16 50826617 50826617 G T 262131 deletion NM_015247.2(CYLD):c.2390_2391delAT (p.Tyr797Terfs) 886040891 MedGen:C1851526,OMIM:132700 16 50793585 50793586 AT - 262131 deletion NM_015247.2(CYLD):c.2390_2391delAT (p.Tyr797Terfs) 886040891 MedGen:C1851526,OMIM:132700 16 50827496 50827497 AT - 262132 deletion NM_015247.2(CYLD):c.2406_2407delCT (p.Cys802Terfs) 886040892 MedGen:C1851526,OMIM:132700 16 50793601 50793602 CT - 262132 deletion NM_015247.2(CYLD):c.2406_2407delCT (p.Cys802Terfs) 886040892 MedGen:C1851526,OMIM:132700 16 50827512 50827513 CT - 262133 deletion NM_015247.2(CYLD):c.2515delT (p.Ser839Hisfs) 886040893 MedGen:C1851526,OMIM:132700 16 50794257 50794257 T - 262133 deletion NM_015247.2(CYLD):c.2515delT (p.Ser839Hisfs) 886040893 MedGen:C1851526,OMIM:132700 16 50828168 50828168 T - 262134 single nucleotide variant NM_015247.2(CYLD):c.2569C>T (p.Gln857Ter) 886040894 MedGen:C1851526,OMIM:132700 16 50794311 50794311 C T 262134 single nucleotide variant NM_015247.2(CYLD):c.2569C>T (p.Gln857Ter) 886040894 MedGen:C1851526,OMIM:132700 16 50828222 50828222 C T 325523 single nucleotide variant NM_015247.2(CYLD):c.-161A>G 886052051 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50778740 50778740 A G 325523 single nucleotide variant NM_015247.2(CYLD):c.-161A>G 886052051 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50744829 50744829 A G 325529 single nucleotide variant NM_015247.2(CYLD):c.-23A>C 771486432 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50783587 50783587 A C 325529 single nucleotide variant NM_015247.2(CYLD):c.-23A>C 771486432 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50749676 50749676 A C 325530 single nucleotide variant NM_015247.2(CYLD):c.1172T>C (p.Ile391Thr) 138976689 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50779698 50779698 T C 325530 single nucleotide variant NM_015247.2(CYLD):c.1172T>C (p.Ile391Thr) 138976689 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50813609 50813609 T C 325534 single nucleotide variant NM_015247.2(CYLD):c.1473C>T (p.Ile491=) 75757530 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50779999 50779999 C T 325534 single nucleotide variant NM_015247.2(CYLD):c.1473C>T (p.Ile491=) 75757530 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50813910 50813910 C T 325536 single nucleotide variant NM_015247.2(CYLD):c.1503C>T (p.Leu501=) 752471076 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50780029 50780029 C T 325536 single nucleotide variant NM_015247.2(CYLD):c.1503C>T (p.Leu501=) 752471076 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50813940 50813940 C T 325540 single nucleotide variant NM_015247.2(CYLD):c.*837A>G 3743781 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50797345 50797345 A G 325540 single nucleotide variant NM_015247.2(CYLD):c.*837A>G 3743781 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50831256 50831256 A G 325541 single nucleotide variant NM_015247.2(CYLD):c.*1102G>A 141088048 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50797610 50797610 G A 325541 single nucleotide variant NM_015247.2(CYLD):c.*1102G>A 141088048 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50831521 50831521 G A 325543 single nucleotide variant NM_015247.2(CYLD):c.*1245T>C 192470603 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50797753 50797753 T C 325543 single nucleotide variant NM_015247.2(CYLD):c.*1245T>C 192470603 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50831664 50831664 T C 325547 single nucleotide variant NM_015247.2(CYLD):c.*1308A>G 886052054 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50797816 50797816 A G 325547 single nucleotide variant NM_015247.2(CYLD):c.*1308A>G 886052054 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50831727 50831727 A G 325548 single nucleotide variant NM_015247.2(CYLD):c.*1575G>A 184344245 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798083 50798083 G A 325548 single nucleotide variant NM_015247.2(CYLD):c.*1575G>A 184344245 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50831994 50831994 G A 325550 single nucleotide variant NM_015247.2(CYLD):c.*1667G>T 750022206 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832086 50832086 G T 325550 single nucleotide variant NM_015247.2(CYLD):c.*1667G>T 750022206 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798175 50798175 G T 325554 single nucleotide variant NM_015247.2(CYLD):c.*1746C>T 886052057 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832165 50832165 C T 325554 single nucleotide variant NM_015247.2(CYLD):c.*1746C>T 886052057 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798254 50798254 C T 325555 single nucleotide variant NM_015247.2(CYLD):c.*1810A>T 886052058 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832229 50832229 A T 325555 single nucleotide variant NM_015247.2(CYLD):c.*1810A>T 886052058 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798318 50798318 A T 325557 single nucleotide variant NM_015247.2(CYLD):c.*2556A>G 747682326 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832975 50832975 A G 325557 single nucleotide variant NM_015247.2(CYLD):c.*2556A>G 747682326 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799064 50799064 A G 325569 single nucleotide variant NM_015247.2(CYLD):c.*2975C>T 886052062 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799483 50799483 C T 325569 single nucleotide variant NM_015247.2(CYLD):c.*2975C>T 886052062 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833394 50833394 C T 325574 single nucleotide variant NM_015247.2(CYLD):c.*3305A>G 886052065 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799813 50799813 A G 325574 single nucleotide variant NM_015247.2(CYLD):c.*3305A>G 886052065 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833724 50833724 A G 325584 single nucleotide variant NM_015247.2(CYLD):c.*3469T>C 111951225 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799977 50799977 T C 325584 single nucleotide variant NM_015247.2(CYLD):c.*3469T>C 111951225 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833888 50833888 T C 325585 single nucleotide variant NM_015247.2(CYLD):c.*3731C>T 551109634 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50800239 50800239 C T 325585 single nucleotide variant NM_015247.2(CYLD):c.*3731C>T 551109634 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834150 50834150 C T 325587 single nucleotide variant NM_015247.2(CYLD):c.*3739C>G 16948836 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50800247 50800247 C G 325587 single nucleotide variant NM_015247.2(CYLD):c.*3739C>G 16948836 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834158 50834158 C G 325588 single nucleotide variant NM_015247.2(CYLD):c.*4494G>A 546313281 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801002 50801002 G A 325588 single nucleotide variant NM_015247.2(CYLD):c.*4494G>A 546313281 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834913 50834913 G A 325598 single nucleotide variant NM_015247.2(CYLD):c.*4567C>T 113748745 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801075 50801075 C T 325598 single nucleotide variant NM_015247.2(CYLD):c.*4567C>T 113748745 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834986 50834986 C T 325599 single nucleotide variant NM_015247.2(CYLD):c.*4702C>T 886052070 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801210 50801210 C T 325599 single nucleotide variant NM_015247.2(CYLD):c.*4702C>T 886052070 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50835121 50835121 C T 325609 single nucleotide variant NM_015247.2(CYLD):c.*4841G>A 886052071 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801349 50801349 G A 325609 single nucleotide variant NM_015247.2(CYLD):c.*4841G>A 886052071 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50835260 50835260 G A 325612 single nucleotide variant NM_015247.2(CYLD):c.*5384A>G 886052072 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50835803 50835803 A G 325612 single nucleotide variant NM_015247.2(CYLD):c.*5384A>G 886052072 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801892 50801892 A G 335203 single nucleotide variant NM_015247.2(CYLD):c.-366G>C 886052050 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50776010 50776010 G C 335203 single nucleotide variant NM_015247.2(CYLD):c.-366G>C 886052050 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50742099 50742099 G C 335205 single nucleotide variant NM_015247.2(CYLD):c.*47G>A 116979331 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50796555 50796555 G A 335205 single nucleotide variant NM_015247.2(CYLD):c.*47G>A 116979331 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50830466 50830466 G A 335207 single nucleotide variant NM_015247.2(CYLD):c.*403T>C 886052052 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50796911 50796911 T C 335207 single nucleotide variant NM_015247.2(CYLD):c.*403T>C 886052052 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50830822 50830822 T C 335210 single nucleotide variant NM_015247.2(CYLD):c.*698T>G 541975303 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50797206 50797206 T G 335210 single nucleotide variant NM_015247.2(CYLD):c.*698T>G 541975303 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50831117 50831117 T G 335214 single nucleotide variant NM_015247.2(CYLD):c.*841G>A 117537927 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50797349 50797349 G A 335214 single nucleotide variant NM_015247.2(CYLD):c.*841G>A 117537927 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50831260 50831260 G A 335215 single nucleotide variant NM_015247.2(CYLD):c.*1727T>C 886052056 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832146 50832146 T C 335215 single nucleotide variant NM_015247.2(CYLD):c.*1727T>C 886052056 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798235 50798235 T C 335216 single nucleotide variant NM_015247.2(CYLD):c.*2305A>T 559634329 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832724 50832724 A T 335216 single nucleotide variant NM_015247.2(CYLD):c.*2305A>T 559634329 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798813 50798813 A T 335217 single nucleotide variant NM_015247.2(CYLD):c.*2438G>A 886052061 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832857 50832857 G A 335217 single nucleotide variant NM_015247.2(CYLD):c.*2438G>A 886052061 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798946 50798946 G A 335221 single nucleotide variant NM_015247.2(CYLD):c.*2615A>G 181056407 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833034 50833034 A G 335221 single nucleotide variant NM_015247.2(CYLD):c.*2615A>G 181056407 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799123 50799123 A G 335224 single nucleotide variant NM_015247.2(CYLD):c.*3722T>G 886052067 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50800230 50800230 T G 335224 single nucleotide variant NM_015247.2(CYLD):c.*3722T>G 886052067 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834141 50834141 T G 335227 single nucleotide variant NM_015247.2(CYLD):c.*4561G>A 17314948 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801069 50801069 G A 335227 single nucleotide variant NM_015247.2(CYLD):c.*4561G>A 17314948 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834980 50834980 G A 335242 single nucleotide variant NM_015247.2(CYLD):c.*4691A>G 886052069 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801199 50801199 A G 335242 single nucleotide variant NM_015247.2(CYLD):c.*4691A>G 886052069 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50835110 50835110 A G 335244 deletion NM_015247.2(CYLD):c.*4888_*4889delAT 143814807 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50835307 50835308 AT - 335244 deletion NM_015247.2(CYLD):c.*4888_*4889delAT 143814807 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801396 50801397 AT - 341665 single nucleotide variant NM_015247.2(CYLD):c.59T>G (p.Ile20Ser) 764097337 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50783668 50783668 T G 341665 single nucleotide variant NM_015247.2(CYLD):c.59T>G (p.Ile20Ser) 764097337 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50749757 50749757 T G 341669 single nucleotide variant NM_015247.2(CYLD):c.2145T>C (p.Tyr715=) 200905032 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50791594 50791594 T C 341669 single nucleotide variant NM_015247.2(CYLD):c.2145T>C (p.Tyr715=) 200905032 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50825505 50825505 T C 341676 single nucleotide variant NM_015247.2(CYLD):c.*468A>C 886052053 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50796976 50796976 A C 341676 single nucleotide variant NM_015247.2(CYLD):c.*468A>C 886052053 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50830887 50830887 A C 341678 single nucleotide variant NM_015247.2(CYLD):c.*831C>T 144877731 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50797339 50797339 C T 341678 single nucleotide variant NM_015247.2(CYLD):c.*831C>T 144877731 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50831250 50831250 C T 341680 single nucleotide variant NM_015247.2(CYLD):c.*1341T>G 140767609 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50797849 50797849 T G 341680 single nucleotide variant NM_015247.2(CYLD):c.*1341T>G 140767609 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50831760 50831760 T G 341681 duplication NM_015247.2(CYLD):c.*1587dupA 886052055 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798095 50798095 A AA 341681 duplication NM_015247.2(CYLD):c.*1587dupA 886052055 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832006 50832006 A AA 341686 single nucleotide variant NM_015247.2(CYLD):c.*1590T>C 528844666 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832009 50832009 T C 341686 single nucleotide variant NM_015247.2(CYLD):c.*1590T>C 528844666 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798098 50798098 T C 341689 single nucleotide variant NM_015247.2(CYLD):c.*2150A>G 563954578 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798658 50798658 A G 341689 single nucleotide variant NM_015247.2(CYLD):c.*2150A>G 563954578 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832569 50832569 A G 341690 single nucleotide variant NM_015247.2(CYLD):c.*2646G>A 563329143 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799154 50799154 G A 341690 single nucleotide variant NM_015247.2(CYLD):c.*2646G>A 563329143 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833065 50833065 G A 341697 single nucleotide variant NM_015247.2(CYLD):c.*3000C>G 886052063 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799508 50799508 C G 341697 single nucleotide variant NM_015247.2(CYLD):c.*3000C>G 886052063 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833419 50833419 C G 341699 single nucleotide variant NM_015247.2(CYLD):c.*3070A>G 144667145 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799578 50799578 A G 341699 single nucleotide variant NM_015247.2(CYLD):c.*3070A>G 144667145 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833489 50833489 A G 341704 single nucleotide variant NM_015247.2(CYLD):c.*3229C>T 752862278 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799737 50799737 C T 341704 single nucleotide variant NM_015247.2(CYLD):c.*3229C>T 752862278 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833648 50833648 C T 341706 single nucleotide variant NM_015247.2(CYLD):c.*3384G>A 886052066 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799892 50799892 G A 341706 single nucleotide variant NM_015247.2(CYLD):c.*3384G>A 886052066 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833803 50833803 G A 341708 single nucleotide variant NM_015247.2(CYLD):c.*3614C>A 372370285 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50800122 50800122 C A 341708 single nucleotide variant NM_015247.2(CYLD):c.*3614C>A 372370285 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834033 50834033 C A 341710 single nucleotide variant NM_015247.2(CYLD):c.*3736G>A 567662515 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50800244 50800244 G A 341710 single nucleotide variant NM_015247.2(CYLD):c.*3736G>A 567662515 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834155 50834155 G A 341715 single nucleotide variant NM_015247.2(CYLD):c.*4388C>T 781004605 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50800896 50800896 C T 341715 single nucleotide variant NM_015247.2(CYLD):c.*4388C>T 781004605 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834807 50834807 C T 341718 single nucleotide variant NM_015247.2(CYLD):c.*4470C>A 755710819 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50800978 50800978 C A 341718 single nucleotide variant NM_015247.2(CYLD):c.*4470C>A 755710819 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834889 50834889 C A 341720 single nucleotide variant NM_015247.2(CYLD):c.*4947G>A 567438576 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50835366 50835366 G A 341720 single nucleotide variant NM_015247.2(CYLD):c.*4947G>A 567438576 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801455 50801455 G A 341721 single nucleotide variant NM_015247.2(CYLD):c.*5086A>G 572929759 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50835505 50835505 A G 341721 single nucleotide variant NM_015247.2(CYLD):c.*5086A>G 572929759 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801594 50801594 A G 341725 single nucleotide variant NM_015247.2(CYLD):c.*5272C>T 140875917 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50835691 50835691 C T 341725 single nucleotide variant NM_015247.2(CYLD):c.*5272C>T 140875917 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801780 50801780 C T 343150 single nucleotide variant NM_015247.2(CYLD):c.126G>A (p.Pro42=) 202119806 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50749824 50749824 G A 343150 single nucleotide variant NM_015247.2(CYLD):c.126G>A (p.Pro42=) 202119806 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50783735 50783735 G A 343151 single nucleotide variant NM_015247.2(CYLD):c.543C>T (p.Tyr181=) 752294416 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50751642 50751642 C T 343151 single nucleotide variant NM_015247.2(CYLD):c.543C>T (p.Tyr181=) 752294416 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50785553 50785553 C T 343153 single nucleotide variant NM_015247.2(CYLD):c.922+9C>A 528253971 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50775183 50775183 C A 343153 single nucleotide variant NM_015247.2(CYLD):c.922+9C>A 528253971 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50809094 50809094 C A 343158 single nucleotide variant NM_015247.2(CYLD):c.1166C>G (p.Thr389Arg) 200759332 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50779692 50779692 C G 343158 single nucleotide variant NM_015247.2(CYLD):c.1166C>G (p.Thr389Arg) 200759332 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50813603 50813603 C G 343159 single nucleotide variant NM_015247.2(CYLD):c.2109-10G>A 11865799 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50791548 50791548 G A 343159 single nucleotide variant NM_015247.2(CYLD):c.2109-10G>A 11865799 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50825459 50825459 G A 343162 single nucleotide variant NM_015247.2(CYLD):c.2319G>A (p.Leu773=) 199912760 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50792674 50792674 G A 343162 single nucleotide variant NM_015247.2(CYLD):c.2319G>A (p.Leu773=) 199912760 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50826585 50826585 G A 343168 single nucleotide variant NM_015247.2(CYLD):c.2412C>T (p.Asp804=) 2066852 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50793607 50793607 C T 343168 single nucleotide variant NM_015247.2(CYLD):c.2412C>T (p.Asp804=) 2066852 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50827518 50827518 C T 343177 single nucleotide variant NM_015247.2(CYLD):c.2465C>T (p.Thr822Ile) 775394735 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50793660 50793660 C T 343177 single nucleotide variant NM_015247.2(CYLD):c.2465C>T (p.Thr822Ile) 775394735 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50827571 50827571 C T 343179 single nucleotide variant NM_015247.2(CYLD):c.*382T>C 142580891 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50796890 50796890 T C 343179 single nucleotide variant NM_015247.2(CYLD):c.*382T>C 142580891 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50830801 50830801 T C 343192 single nucleotide variant NM_015247.2(CYLD):c.*779G>A 190787930 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50797287 50797287 G A 343192 single nucleotide variant NM_015247.2(CYLD):c.*779G>A 190787930 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50831198 50831198 G A 343196 single nucleotide variant NM_015247.2(CYLD):c.*1831G>A 181246559 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832250 50832250 G A 343196 single nucleotide variant NM_015247.2(CYLD):c.*1831G>A 181246559 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798339 50798339 G A 343198 single nucleotide variant NM_015247.2(CYLD):c.*1983T>C 867027657 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832402 50832402 T C 343198 single nucleotide variant NM_015247.2(CYLD):c.*1983T>C 867027657 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798491 50798491 T C 343201 deletion NM_015247.2(CYLD):c.*2121_*2122delAA 886052060 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832540 50832541 AA - 343201 deletion NM_015247.2(CYLD):c.*2121_*2122delAA 886052060 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798629 50798630 AA - 343202 deletion NM_015247.2(CYLD):c.*2122delA 886052059 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832541 50832541 A - 343202 deletion NM_015247.2(CYLD):c.*2122delA 886052059 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798630 50798630 A - 343205 single nucleotide variant NM_015247.2(CYLD):c.*2236C>T 57638820 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832655 50832655 C T 343205 single nucleotide variant NM_015247.2(CYLD):c.*2236C>T 57638820 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798744 50798744 C T 343211 single nucleotide variant NM_015247.2(CYLD):c.*2335T>C 9646285 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832754 50832754 T C 343211 single nucleotide variant NM_015247.2(CYLD):c.*2335T>C 9646285 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798843 50798843 T C 343217 single nucleotide variant NM_015247.2(CYLD):c.*2369G>A 16948829 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50832788 50832788 G A 343217 single nucleotide variant NM_015247.2(CYLD):c.*2369G>A 16948829 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50798877 50798877 G A 343219 single nucleotide variant NM_015247.2(CYLD):c.*2710C>T 141928186 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799218 50799218 C T 343219 single nucleotide variant NM_015247.2(CYLD):c.*2710C>T 141928186 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833129 50833129 C T 343222 single nucleotide variant NM_015247.2(CYLD):c.*2856T>C 778856255 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799364 50799364 T C 343222 single nucleotide variant NM_015247.2(CYLD):c.*2856T>C 778856255 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833275 50833275 T C 343224 deletion NM_015247.2(CYLD):c.*3119delT 886052064 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799627 50799627 T - 343224 deletion NM_015247.2(CYLD):c.*3119delT 886052064 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833538 50833538 T - 343226 single nucleotide variant NM_015247.2(CYLD):c.*3148T>C 555603514 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50799656 50799656 T C 343226 single nucleotide variant NM_015247.2(CYLD):c.*3148T>C 555603514 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50833567 50833567 T C 343227 single nucleotide variant NM_015247.2(CYLD):c.*3679T>C 141888517 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50800187 50800187 T C 343227 single nucleotide variant NM_015247.2(CYLD):c.*3679T>C 141888517 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834098 50834098 T C 343235 single nucleotide variant NM_015247.2(CYLD):c.*4485G>C 886052068 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50800993 50800993 G C 343235 single nucleotide variant NM_015247.2(CYLD):c.*4485G>C 886052068 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50834904 50834904 G C 343236 single nucleotide variant NM_015247.2(CYLD):c.*4885A>T 184571054 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50801393 50801393 A T 343236 single nucleotide variant NM_015247.2(CYLD):c.*4885A>T 184571054 MedGen:C1851526,OMIM:132700;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493;Gene:100188881,MedGen:C2677505,OMIM:612099 16 50835304 50835304 A T

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 16 50775745 rs751919 T G rs751919 2.00E-07 Crohn's disease HPOID:0100280 DOID:8778 T nearGene-5 GWASdb_trait 16 50781802 rs8060598 T C rs8060598 4.14E-08 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 16 50781802 rs8060598 T C rs8060598 3.16E-08 Crohn's disease HPOID:0100280 DOID:8778 T intron GWASdb_trait 16 50787147 rs3785142 G A rs3785142 1.77E-07 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 16 50787483 rs7342715 A G rs7342715 6.03E-09 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 16 50787483 rs7342715 A G rs7342715 1.26E-07 Crohn's disease HPOID:0100280 DOID:8778 G intron GWASdb_trait 16 50791250 rs3135503 T G rs3135503 4.24E-08 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 16 50791250 rs3135503 T G rs3135503 3.16E-08 Crohn's disease HPOID:0100280 DOID:8778 T intron GWASdb_trait 16 50792268 rs4785450 C T rs4785450 3.72E-07 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 16 50800647 rs9925070 T G rs9925070 2.66E-08 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 16 50802715 rs11859674 G A rs11859674 9.94E-05 Potassium levels HPOID:0001627|HPOID:0000822|HPOID:0011042 DOID:10763|DOID:114 A intron GWASdb_trait 16 50803756 rs1420873 G C rs1420873 2.50E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 16 50808726 rs6500331 G A rs6500331 1.89E-07 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 16 50811964 rs16948813 G A rs16948813 1.04E-05 Orofacial clefts HPOID:0000202 DOID:0050567 A intron GWASdb_trait 16 50817932 rs8062540 A G rs8062540 9.73E-07 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 16 50819910 rs2111435 C T rs2111435 2.60E-05 Crohn's disease HPOID:0100280 DOID:8778 A intron GWASdb_trait 16 50822964 rs4785226 A C rs4785226 7.50E-06 Crohn's disease HPOID:0100280 DOID:8778 C intron GWASdb_trait 16 50827518 rs2066852 C T rs2066852 2.69E-05 Potassium levels HPOID:0001627|HPOID:0000822|HPOID:0011042 DOID:10763|DOID:114 C cds-synon GWASdb_trait 16 50827601 rs2302759 A G rs2302759 7.00E-07 Crohn's disease HPOID:0100280 DOID:8778 C intron GWASdb_trait 16 50829853 rs2160683 A T rs2160683 2.27E-06 Crohn's disease HPOID:0100280 DOID:8778 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000083799.17 CYLD 605018