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Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD37, CCDC110
+35 more
Deletion
Primary dilated cardiomyopathy
+1 more
GUncertain significance
SLC25A4
(A5G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(W6C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(V17I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(A20T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(A20V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(A25T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(R31G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(Q37fs)
Duplication
(frameshift variant)
not provided
GPathogenic
SLC25A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A4
Deletion
(intron variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(S46fs)
Duplication
(frameshift variant)
not provided
GPathogenic
SLC25A4
(E48Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(I55T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(K63E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(S69T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(N74K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC25A4
(R80H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
SLC25A4
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
+4 more
GBenign/Likely benign
SLC25A4
(Q85*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SLC25A4
(N88fs)
Duplication
(frameshift variant)
not provided
GPathogenic
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Duplication
(inframe_insertion)
not provided
GUncertain significance
SLC25A4
(D93G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(G101V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Duplication
(inframe_insertion)
not provided
GUncertain significance
SLC25A4
(K107N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(R111S)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
+3 more
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(A125V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(F130C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(A149T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(R152C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(L157M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(I161V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC25A4
(I164V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SLC25A4
(G172V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(Q175fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
SLC25A4
(Q175H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(V181A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(G183D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SLC25A4
(Y191C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(G193R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(G200R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
SLC25A4
(P205S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(P205R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC25A4
(V208M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(I210V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(A224S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
(V227L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SLC25A4
(F231fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(R237G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC25A4
(R244Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC25A4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SLC25A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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