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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYLD
(I20S)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CYLD
(H57R)
Single nucleotide variant
(missense variant +2 more)
Brooke-Spiegler syndrome
+1 more
GUncertain significance
CYLD
(S371* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
CYLD
(T389R +2 more)
Single nucleotide variant
(missense variant +2 more)
Familial cylindromatosis
+3 more
GUncertain significance
CYLD-AS2, CYLD
(K767* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial cylindromatosis
+2 more
GPathogenic
CYLD, CYLD-AS2
(T822I +3 more)
Single nucleotide variant
(missense variant +1 more)
Trichoepithelioma, multiple familial, 2
+3 more
GUncertain significance
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