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Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYLD
(R19W)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(I20S)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CYLD
(L24F)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(K33R)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(P42L)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(R53C)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(R53H)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
CYLD
(H57R)
Single nucleotide variant
(missense variant +2 more)
Brooke-Spiegler syndrome
+1 more
GUncertain significance
CYLD
(K64E)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(I70V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
CYLD
(E76D)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(V81F)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(I92V)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(K95R)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(K95N)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(A102V)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(L112Q)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(K141Q)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(R147C)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(R156K)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(Q174H)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(E203A)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(L204P)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(L212S)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
+1 more
GUncertain significance
CYLD
(S214G)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(A217T)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(E226K +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(L227P +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(P229S +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(I10V +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(T21A +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(I22V +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(V254G +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(D277N +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(D281N +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(I299V +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(T308M +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
+2 more
GUncertain significance
CYLD
(L316R +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(K111N +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(A114V +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(G135R +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(V138L +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(S146fs +2 more)
Deletion
(frameshift variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GLikely pathogenic
CYLD
(S371* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
CYLD
(T149I +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(A156S +2 more)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(P159L +2 more)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(T389R +2 more)
Single nucleotide variant
(missense variant +2 more)
Familial cylindromatosis
+3 more
GUncertain significance
CYLD
(R172H +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(Q178P +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(H192Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(N205S +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(S219C +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(H243Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(V253A +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(K254E +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(T350I +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(I363T +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(N403D +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(V645I +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(I425K +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(Q482K +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(K499N +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(A523T +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD-AS2, CYLD
(K767* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial cylindromatosis
+2 more
GPathogenic
CYLD, CYLD-AS2
(D579N +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(S584L +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(K587E +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(N596S +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(T822I +3 more)
Single nucleotide variant
(missense variant +1 more)
Trichoepithelioma, multiple familial, 2
+3 more
GUncertain significance
CYLD, CYLD-AS2
(P603S +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(N607S +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(V613M +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(V613L +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(D621E +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(G627S +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD-AS2, CYLD
(Q632L +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(E635Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(D657N +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(A659S +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(D668G +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
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