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Items: 1 to 100 of 436

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CARD14, SGSH
(D908Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CARD14, SGSH
(I681S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CARD14
Deletion
Psoriasis 2
+1 more
GUncertain significance
CARD14, SGSH
(G693V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CARD14, SGSH
Microsatellite
(intron variant)
CARD14-related disorder
GLikely benign
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(A953S)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(P964L)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(K655M)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(S926C)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
(E863K)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(Q754L)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(D961A)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(splice donor variant)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
(Y816*)
Single nucleotide variant
(nonsense +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(E669K)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(D973G)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(E946K)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(L949I)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
SGSH, CARD14
+1 more
(A856V)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(Y620N)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
SGSH, CARD14
+1 more
(V819A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
(T803R)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
Duplication
(splice acceptor variant)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(T706I)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(L793V)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
(L845M)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
(C846*)
Single nucleotide variant
(nonsense +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
(R828W)
Indel
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
(C846W)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(G689D)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(M709T)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
(R835fs)
Deletion
(frameshift variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(S723Y)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(R986H)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(G733S)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(K628E)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
Duplication
(intron variant)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(splice donor variant)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
(R820Q)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
(H889R)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(D961N)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
(R888H)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(D794E)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(L642H)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(N722D)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(V646A)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(S675L)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(A686V)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
(R823*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CARD14
(G84E)
Single nucleotide variant
(missense variant +1 more)
Psoriasis 2
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
(R888P)
Single nucleotide variant
(missense variant +1 more)
CARD14-related disorder
GUncertain significance
CARD14, SGSH
(L982F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
(P834A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CARD14, SGSH
(Q1001H)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, LOC126862662
+1 more
(R828W)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(Q940*)
Single nucleotide variant
(nonsense +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
Single nucleotide variant
(intron variant)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
(G660D)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
(C804Y)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(A718V)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+2 more
GUncertain significance
CARD14, SGSH
(V758M)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
(L847F)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(E632G)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, SGSH
(D977N)
Single nucleotide variant
(missense variant +1 more)
Pityriasis rubra pilaris
+1 more
GUncertain significance
CARD14, LOC126862662
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
CARD14, SGSH
Single nucleotide variant
(synonymous variant +1 more)
Pityriasis rubra pilaris
+1 more
GLikely benign
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