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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-TV
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TV
Insertion
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic/Likely pathogenic
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
not specified
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TV
Single nucleotide variant
Leigh syndrome
Gnot provided
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Deletion
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TV
Single nucleotide variant
Epilepsy
+3 more
GUncertain significance
MT-TV
Duplication
See cases
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic/Likely pathogenic
MT-TV
Single nucleotide variant
not specified
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
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