ClinVar Miner

List of variants in gene CYLD reported as pathogenic for Brooke-Spiegler syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
CYLD, 1-BP DEL, 2172A
CYLD, 1-BP DEL, 2253G
CYLD, 1-BP DUP, 1392T
CYLD, 1-BP DUP, 561T
CYLD, 2-BP DEL, 2241AG
CYLD, 4-BP DEL, 1950-1GATA
CYLD, IVS12AS, T-G, +2
CYLD, NT2469, G-A, +1
NM_015247.2(CYLD):c.1112C>A (p.Ser371Ter) rs886040872
NM_015247.2(CYLD):c.1327C>T (p.Gln443Ter) rs764952788
NM_015247.2(CYLD):c.1363C>T (p.Gln455Ter) rs886040873
NM_015247.2(CYLD):c.1537dup (p.Cys513fs) rs886040874
NM_015247.2(CYLD):c.1599dup (p.Val534fs) rs886040875
NM_015247.2(CYLD):c.1658_1661del (p.Asn553fs) rs886040876
NM_015247.2(CYLD):c.1771A>T (p.Lys591Ter) rs886040879
NM_015247.2(CYLD):c.1950-2_1953delAGATAT rs886040882
NM_015247.2(CYLD):c.2108G>A (p.Arg703Lys) rs886040884
NM_015247.2(CYLD):c.2138_2139dup (p.Phe714fs) rs886040885
NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) rs121908389
NM_015247.2(CYLD):c.2242-2A>G rs886040886
NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter) rs121908388
NM_015247.2(CYLD):c.2291_2295del (p.Lys764fs) rs886040887
NM_015247.2(CYLD):c.2299A>T (p.Lys767Ter) rs886040888
NM_015247.2(CYLD):c.2350+1G>T rs886040890
NM_015247.2(CYLD):c.2390_2391del (p.Met796_Tyr797insTer) rs886040891
NM_015247.2(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer) rs886040892
NM_015247.2(CYLD):c.2515del (p.Ser839fs) rs886040893
NM_015247.2(CYLD):c.2569C>T (p.Gln857Ter) rs886040894
NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_015247.2(CYLD):c.831_834del (p.Asp277fs) rs886040868
NM_015247.2(CYLD):c.911dup (p.Ala305fs) rs886040869
NM_015247.2(CYLD):c.968_977del (p.Ser323fs) rs886040870
NM_015247.2(CYLD):c.987_988dup (p.Gly330fs) rs886040871

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