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Links from MedGen

Items: 1 to 100 of 408

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBXL4
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 13
GLikely benign
FBXL4
(G66E)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GLikely pathogenic
FBXL4
(M463V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(M571fs)
Duplication
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(non-coding transcript variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(S385R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(C489G)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(C450W)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GLikely pathogenic
FBXL4
(I246fs)
Duplication
(frameshift variant)
Mitochondrial DNA depletion syndrome 13
GPathogenic
FBXL4
(L310P)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GUncertain significance
FBXL4
Deletion
(nonsense +1 more)
Mitochondrial DNA depletion syndrome 13
GLikely pathogenic
FBXL4
(S596fs)
Deletion
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 13
GLikely pathogenic
FBXL4
(C595S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GUncertain significance
FBXL4
(Y162*)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GPathogenic/Likely pathogenic
FBXL4
(C584fs)
Deletion
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 13
GLikely pathogenic
FBXL4
(Y100C)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GLikely pathogenic
FBXL4
(P180L)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 13
+1 more
GUncertain significance
FBXL4
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBXL4
(A418P)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FBXL4
(G513V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Copy number loss
Mitochondrial DNA depletion syndrome 13
GPathogenic
FBXL4
(A442fs)
Deletion
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 13
GLikely pathogenic
FBXL4
(E208*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 13
GPathogenic
FBXL4
(C558Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FBXL4
(N210fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
FBXL4
Indel
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GConflicting classifications of pathogenicity
FBXL4
Single nucleotide variant
(3 prime UTR variant +1 more)
FBXL4-related disorder
+2 more
GBenign
FBXL4
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(T620S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(V613fs)
Deletion
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 13
GLikely pathogenic
FBXL4
(S609N)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GUncertain significance
FBXL4
(D599G)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GConflicting classifications of pathogenicity
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(S596L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(S593C)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(D591A)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GConflicting classifications of pathogenicity
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FBXL4
(L587P)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(C584F)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(S583C)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(E582G)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(E582A)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(L580P)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(L580R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(A575S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FBXL4
(A575T)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(P574L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
+2 more
GUncertain significance
FBXL4
(P574Q)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(M571I)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GUncertain significance
FBXL4
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 13
+1 more
GConflicting classifications of pathogenicity
FBXL4
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 13
+1 more
GConflicting classifications of pathogenicity
FBXL4
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 13
+1 more
GConflicting classifications of pathogenicity
FBXL4
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(L567S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GConflicting classifications of pathogenicity
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(Q562R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(L561I)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(C558G)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(N557S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GConflicting classifications of pathogenicity
FBXL4
(R544K)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(N543T)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(F539L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(L532V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GUncertain significance
FBXL4
(Q531R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(R527I)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(G523R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GConflicting classifications of pathogenicity
FBXL4
(T522A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FBXL4
(L518R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(T517P)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(P516S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GUncertain significance
FBXL4
(D511E)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(L510V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(E509A)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
+1 more
GConflicting classifications of pathogenicity
FBXL4
(G503V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(N495H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FBXL4
(K490E)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
FBXL4-related disorder
+2 more
GConflicting classifications of pathogenicity
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(R482Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
FBXL4-related disorder
+2 more
GConflicting classifications of pathogenicity
FBXL4
(K480N)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
FBXL4
(I474M)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 13
GUncertain significance
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