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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-ND4, MT-ND4L
+17 more
Deletion
Macrocytic dyserythropoietic anemia
+1 more
GLikely pathogenic
MT-ATP6, MT-ATP8
+20 more
Deletion
Macrocytic dyserythropoietic anemia
+1 more
GLikely pathogenic
MT-ATP6, MT-ATP8
+11 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+18 more
Deletion
Mitochondrial disease
GPathogenic
MT-CO3, MT-ND3
+15 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+8 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+11 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+11 more
Deletion
Pearson syndrome
GPathogenic
MT-ATP6, MT-ATP8
+10 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+10 more
Deletion
Pearson syndrome
GPathogenic
MT-ATP6, MT-CO3
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-CO3
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-ND5, MT-ND6
+12 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND5, MT-ND6
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TR
Single nucleotide variant
Mitochondrial disease
+1 more
GPathogenic/Likely pathogenic
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely pathogenic
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TR
Single nucleotide variant
not specified
GUncertain significance
MT-TR
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TR
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TR
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely pathogenic
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TR
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
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