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Links from MedGen

Items: 1 to 100 of 124

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RRM2B
Single nucleotide variant
(splice acceptor variant +1 more)
Mitochondrial DNA depletion syndrome 8a
GLikely pathogenic
RRM2B
(E104* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial DNA depletion syndrome 8a
GLikely pathogenic
RRM2B
(A106T +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 8a
GLikely pathogenic
RRM2B
(A172T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RRM2B
Single nucleotide variant
(intron variant)
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
+3 more
GLikely benign
RRM2B
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
RRM2B
Single nucleotide variant
(splice donor variant)
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
+3 more
GLikely pathogenic
RRM2B
(R252K +2 more)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+3 more
GUncertain significance
RRM2B
(I153V +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 8a
+3 more
GUncertain significance
RRM2B
(K158N +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 8a
+3 more
GUncertain significance
RRM2B
(P15L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 8a
+4 more
GBenign/Likely benign
RRM2B
(R51Q)
Single nucleotide variant
(missense variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+3 more
GUncertain significance
RRM2B
(R112H +1 more)
Single nucleotide variant
(missense variant +1 more)
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
+3 more
GUncertain significance
RRM2B
(T289R +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 8a
GUncertain significance
RRM2B
(M285K +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 8a
GUncertain significance
RRM2B
Indel
(splice donor variant +1 more)
Mitochondrial DNA depletion syndrome 8a
GLikely pathogenic
RRM2B
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 8a
GConflicting classifications of pathogenicity
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B, LOC130000897
Single nucleotide variant
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign/Likely benign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
LOC130000897, RRM2B
Single nucleotide variant
Mitochondrial DNA depletion syndrome 8a
+1 more
GConflicting classifications of pathogenicity
RRM2B, LOC130000896
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+2 more
GBenign/Likely benign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+1 more
GUncertain significance
RRM2B
(V115D +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 8a
GLikely pathogenic
RRM2B
(I124fs +2 more)
Insertion
(frameshift variant)
Mitochondrial DNA depletion syndrome 8a
GPathogenic
RRM2B
(N229S +2 more)
Single nucleotide variant
(missense variant)
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
+3 more
GUncertain significance
RRM2B
Single nucleotide variant
(intron variant)
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
+3 more
GBenign/Likely benign
RRM2B
Single nucleotide variant
(intron variant)
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
+4 more
GBenign/Likely benign
LOC130000896, RRM2B
(M1V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 8a
+1 more
GLikely pathogenic
RRM2B
Single nucleotide variant
(intron variant)
RRM2B-related disorder
+4 more
GBenign/Likely benign
RRM2B, LOC130000897
Single nucleotide variant
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign
LOC130000897, RRM2B
Single nucleotide variant
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+2 more
GBenign/Likely benign
LOC130000897, RRM2B
Single nucleotide variant
Mitochondrial DNA depletion syndrome 8a
+2 more
GBenign
LOC130000897, RRM2B
Single nucleotide variant
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+2 more
GBenign
RRM2B
(K168R +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 8a
+2 more
GUncertain significance
RRM2B
Single nucleotide variant
(synonymous variant)
Mitochondrial DNA depletion syndrome 8a
+2 more
GConflicting classifications of pathogenicity
RRM2B
Single nucleotide variant
(synonymous variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+2 more
GConflicting classifications of pathogenicity
RRM2B
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 8a
+2 more
GConflicting classifications of pathogenicity
RRM2B
(A377S +2 more)
Single nucleotide variant
(missense variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+2 more
GConflicting classifications of pathogenicity
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+2 more
GConflicting classifications of pathogenicity
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Deletion
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions
+4 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+2 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GConflicting classifications of pathogenicity
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+2 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+2 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign/Likely benign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign/Likely benign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GBenign/Likely benign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+2 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+1 more
GConflicting classifications of pathogenicity
RRM2B
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+1 more
GConflicting classifications of pathogenicity
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial DNA depletion syndrome 8a
+1 more
GUncertain significance
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+1 more
GBenign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+1 more
GBenign/Likely benign
RRM2B
Single nucleotide variant
(3 prime UTR variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
+1 more
GBenign
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