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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNA2
(L661fs)
Microsatellite
(frameshift variant +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
GUncertain significance
DNA2
(V488I)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
GUncertain significance
DNA2
(Y292*)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
GUncertain significance
DNA2
(Y405H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
+1 more
GUncertain significance
DNA2
(G849V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
GUncertain significance
DNA2
(R484fs)
Deletion
(frameshift variant +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
GUncertain significance
DNA2
(M137I)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
GUncertain significance
DNA2
(A221G)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
DNA2
(M236T)
Single nucleotide variant
(missense variant +1 more)
Seckel syndrome 8
GUncertain significance
DNA2
(A740G)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
GUncertain significance
DNA2
(S640L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
+1 more
GLikely pathogenic
DNA2
Deletion
(intron variant)
not provided
+2 more
GBenign/Likely benign
DNA2
(T1005I)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
GLikely pathogenic
DNA2
Deletion
(intron variant)
Mitochondrial DNA deletion syndrome with progressive myopathy
+2 more
GBenign
DNA2
Deletion
(intron variant)
Seckel syndrome 8
+2 more
GBenign
DNA2
(N550S)
Single nucleotide variant
(missense variant +1 more)
Seckel syndrome 8
+3 more
GBenign/Likely benign
DNA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign/Likely benign
DNA2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
DNA2
(D548fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DNA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
DNA2
(F810L)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
DNA2
(V637I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
DNA2
(K227E)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA deletion syndrome with progressive myopathy
GPathogenic
DNA2
(R198H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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