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Links from MedGen

Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYLD
(E76D)
Single nucleotide variant
(missense variant +2 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
(E226K +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(P403S +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(V413M +4 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, CYLD-AS2
(I225K +4 more)
Single nucleotide variant
(missense variant +1 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
(T149I +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(N407S +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(S384L +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(D468G +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(T150I +4 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, CYLD-AS2
(Q432L +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(G427S +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(V413L +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(D579N +3 more)
Single nucleotide variant
(synonymous variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(K64E)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(Q282K +4 more)
Single nucleotide variant
(missense variant +1 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
(A102V)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD-AS2, CYLD
(D421E +4 more)
Single nucleotide variant
(missense variant +1 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
(Q178P +3 more)
Single nucleotide variant
(missense variant +1 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
(K254E +4 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, CYLD-AS2
(N203D +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(A323T +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(R53H)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
+1 more
GUncertain significance
CYLD
(S146fs +2 more)
Deletion
(frameshift variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GLikely pathogenic
CYLD
(L227P +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(L316R +2 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
(K111N +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(L24F)
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
(L204P)
Single nucleotide variant
(missense variant +2 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
(R172H +3 more)
Single nucleotide variant
(missense variant +1 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
(K141Q)
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
(H243Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(N205S +4 more)
Single nucleotide variant
(missense variant +1 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
(D281N +1 more)
Single nucleotide variant
(missense variant +1 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, CYLD-AS2
(K299N +4 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
(G135R +2 more)
Single nucleotide variant
(missense variant +1 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
(P229S +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(S214G)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(V253A +4 more)
Single nucleotide variant
(missense variant +1 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, CYLD-AS2
(D457N +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(S19C +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(K387E +4 more)
Single nucleotide variant
(missense variant +1 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
(I163T +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(A459S +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(E435Q +4 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
(A114V +2 more)
Single nucleotide variant
(missense variant +1 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
(A156S +2 more)
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, CYLD-AS2
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD, CYLD-AS2
(N396S +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GUncertain significance
CYLD
(R19W)
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
(T308M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CYLD
(H57R)
Single nucleotide variant
(missense variant +2 more)
Brooke-Spiegler syndrome
+1 more
GUncertain significance
CYLD, CYLD-AS2
(M719V +3 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
GPathogenic
CYLD, CYLD-AS2
(T822I +3 more)
Single nucleotide variant
(missense variant +1 more)
Trichoepithelioma, multiple familial, 2
+3 more
GUncertain significance
CYLD
(T389R +2 more)
Single nucleotide variant
(missense variant +2 more)
Familial cylindromatosis
+3 more
GUncertain significance
CYLD
(I20S)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CYLD-AS2, CYLD
(K767* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial cylindromatosis
+2 more
GPathogenic
CYLD
(S371* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
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
(R936* +3 more)
Single nucleotide variant
(nonsense +1 more)
Trichoepithelioma, multiple familial, 1
+3 more
GPathogenic
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