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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-TS2, MT-TY
+17 more
Deletion
Macrocytic dyserythropoietic anemia
+1 more
GLikely pathogenic
MT-ATP6, MT-TL2
+20 more
Deletion
Macrocytic dyserythropoietic anemia
+1 more
GLikely pathogenic
MT-ATP8, MT-CO1
+18 more
Deletion
Mitochondrial disease
GPathogenic
MT-ND4, MT-TH
+15 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+11 more
Deletion
Mitochondrial disease
GPathogenic
MT-TR, MT-TS2
+11 more
Deletion
Pearson syndrome
GPathogenic
MT-TG, MT-TH
+10 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+10 more
Deletion
Pearson syndrome
GPathogenic
MT-ND4L, MT-ND5
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-CO3, MT-ND3
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-TH, MT-TL2
+12 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND4, MT-ND4L
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-TL2, MT-TS2
+6 more
Deletion
not provided
GPathogenic
MT-TL2, MT-TS2
+6 more
Deletion
Pearson syndrome
GPathogenic
MT-TE, MT-TH
+6 more
Deletion
Mitochondrial disease
GPathogenic
MT-ND4, MT-ND5
+4 more
Deletion
Mitochondrial disease
GPathogenic
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TH
Single nucleotide variant
not specified
GUncertain significance
MT-TH
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely pathogenic
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
mtDNA-related disorders
Gnot provided
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TH
Single nucleotide variant
not provided
GUncertain significance
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TH
Single nucleotide variant
Pigmentary retinopathy and sensorineural deafness
GPathogenic
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TH
Single nucleotide variant
not specified
GUncertain significance
MT-TH
Single nucleotide variant
not provided
Gnot provided
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TH
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TH
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
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