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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-TF
Single nucleotide variant
Mitochondrial disease
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
Mitochondrial disease
GLikely pathogenic
MT-TL1
Single nucleotide variant
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
+12 more
GPathogenic/Likely pathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely pathogenic
MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-TL1
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-ND1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+2 more
GPathogenic/Likely pathogenic
MT-ND1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-TQ
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TW
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TW
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-CO1
Single nucleotide variant
not specified
GUncertain significance
MT-CO1, MT-TS1
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-TS1
Duplication
Mitochondrial disease
GPathogenic
MT-TS1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+2 more
GPathogenic/Likely pathogenic
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Gnot provided
MT-TK
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-TK
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TK
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-TH
Single nucleotide variant
not specified
GUncertain significance
MT-TH
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TS2
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-TL2
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Gnot provided
MT-ND5
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND5
Single nucleotide variant
Leigh syndrome due to mitochondrial complex I deficiency
+1 more
GPathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
GLikely benign
MT-ND6
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-CYB
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Gnot provided
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