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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-ND4L, MT-ND5
+17 more
Deletion
Primary dilated cardiomyopathy
+1 more
GLikely pathogenic
MT-CYB, MT-ND3
+20 more
Deletion
Primary dilated cardiomyopathy
+1 more
GLikely pathogenic
MT-TD, MT-TG
+11 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP8, MT-CO1
+18 more
Deletion
Mitochondrial disease
GPathogenic
MT-ND4, MT-TH
+15 more
Deletion
Mitochondrial disease
GPathogenic
MT-TR, MT-CO3
+8 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+11 more
Deletion
Mitochondrial disease
GPathogenic
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
GLikely benign
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely pathogenic
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TK
Single nucleotide variant
not provided
GUncertain significance
MT-TK
Single nucleotide variant
Mitochondrial disease
GUncertain significance
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
GUncertain significance
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TK
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Gnot provided
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+1 more
GConflicting classifications of pathogenicity
MT-TK
Single nucleotide variant
not specified
GUncertain significance
MT-TK
Single nucleotide variant
not specified
GUncertain significance
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
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
GLikely benign
MT-TK
Insertion
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TK
Single nucleotide variant
not specified
GUncertain significance
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TK
Single nucleotide variant
Mitochondrial disease
GPathogenic
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
GLikely benign
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TK
Single nucleotide variant
not provided
+1 more
GBenign/Likely benign
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
GLikely benign
MT-TR, MT-TS2
+11 more
Deletion
Pearson syndrome
GPathogenic
MT-TK
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TK
Single nucleotide variant
MERRF syndrome
GPathogenic
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-TK
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-ATP6, MT-ATP8
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
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