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Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLPX
Single nucleotide variant
(3 prime UTR variant +1 more)
CLPX-related disorder
GLikely benign
CLPX
(A631T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
(G623E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(E614G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLPX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(E588V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CLPX
(D583H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CLPX
(A551D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(E539K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLPX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLPX
(A531T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(I488T)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
CLPX
(R485G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CLPX
(R480C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
(R477Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(R477W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(K475R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
CLPX-related disorder
+1 more
GBenign/Likely benign
CLPX
(S466L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(G464E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(D458V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(A454V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(intron variant)
not provided
GBenign
CLPX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(N424S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CLPX
(V418M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(F417L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(T413A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CLPX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLPX
Single nucleotide variant
(non-coding transcript variant +1 more)
Protoporphyria, erythropoietic, 2
+1 more
GBenign
CLPX
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
CLPX
(R373W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(Q352H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(N344K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CLPX
(G298D)
Single nucleotide variant
(missense variant +1 more)
Protoporphyria, erythropoietic, 2
GLikely pathogenic
CLPX
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
CLPX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLPX
(G254V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
(G250S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
CLPX
(T238A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLPX
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLPX
(T219I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(R210G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
(I201L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CLPX
(S184P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Duplication
(intron variant)
not provided
GLikely benign
CLPX
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLPX
(P165S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
(Q162E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(A156V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
(E155K)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CLPX
(I147V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
(E128K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(R123H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(T122A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
(D110E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(R104C)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CLPX
(G100R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
Single nucleotide variant
(intron variant)
not provided
GBenign
CLPX
(A65S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CLPX
(T46I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
CLPX
(T43I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
(R32P)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(S19F)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CLPX
(S19A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(L16R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPX
(L16I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(V14G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CLPX
(V14A)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CLPX
(A13T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
CLPX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPX
(G10A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLPX
(T8A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
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