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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RRM2B
(A421G +1 more)
Single nucleotide variant
(missense variant)
RRM2B-related mitochondrial disease
Gnot provided
RRM2B
(R399* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
RRM2B
(N394fs +2 more)
Duplication
(frameshift variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
GPathogenic
RRM2B
(E390* +1 more)
Single nucleotide variant
(nonsense)
RRM2B-related mitochondrial disease
Gnot provided
RRM2B
Deletion
(nonsense)
Mitochondrial disease
+1 more
GPathogenic
RRM2B
(L389V +1 more)
Single nucleotide variant
(missense variant)
RRM2B-related mitochondrial disease
Gnot provided
RRM2B
(N255fs +2 more)
Deletion
(frameshift variant)
RRM2B-related mitochondrial disease
Gnot provided
RRM2B
(Q356* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 8a
GPathogenic
RRM2B
(M354I +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RRM2B
(G345S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRM2B
(C308F +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 8a
GPathogenic
RRM2B
(G301V +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
RRM2B
(I296S +1 more)
Single nucleotide variant
(missense variant)
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
+3 more
GPathogenic/Likely pathogenic
RRM2B
(R283K +1 more)
Single nucleotide variant
(missense variant)
RRM2B-related mitochondrial disease
Gnot provided
RRM2B
(F274L +1 more)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia
GUncertain significance
RRM2B
(G195fs +2 more)
Deletion
(frameshift variant)
RRM2B-related mitochondrial disease
Gnot provided
RRM2B
(G267R +1 more)
Single nucleotide variant
(missense variant)
RRM2B-related mitochondrial disease
Gnot provided
RRM2B
(E266G +1 more)
Single nucleotide variant
(missense variant)
RRM2B-related mitochondrial disease
Gnot provided
RRM2B
(E266K +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 8a
GPathogenic
RRM2B
(R258G +1 more)
Single nucleotide variant
(missense variant)
RRM2B-related mitochondrial disease
Gnot provided
RRM2B
(T216I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RRM2B
(E203K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRM2B
(F195S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRM2B
(R193H +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 8B (MNGIE type)
GPathogenic
RRM2B
(R182H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RRM2B
(R182C +1 more)
Single nucleotide variant
(missense variant)
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
+1 more
GLikely pathogenic
RRM2B
(E157del +2 more)
Deletion
(inframe_deletion)
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
+3 more
GConflicting classifications of pathogenicity
RRM2B
(D142N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRM2B
(W136R)
Single nucleotide variant
(missense variant +1 more)
RRM2B-related mitochondrial disease
Gnot provided
RRM2B
(R113P)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
RRM2B
(R113Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
RRM2B
(R113W)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 8a
GPathogenic
RRM2B
(P105S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LOC130000896, RRM2B
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
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