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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNASEH1
(L150F +4 more)
Single nucleotide variant
(missense variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
GUncertain significance
RNASEH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
RNASEH1
Single nucleotide variant
(intron variant)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
+1 more
GBenign
RNASEH1
(A185V +4 more)
Single nucleotide variant
(missense variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
GPathogenic
RNASEH1
(R157* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
RNASEH1
(V142I +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
+1 more
GPathogenic/Likely pathogenic
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