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Items: 1 to 100 of 227

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-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
+1 more
GBenign
MT-CO1
Single nucleotide variant
not provided
GBenign
MT-CO1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-CO1
Single nucleotide variant
not provided
GBenign/Likely benign
MT-CO1
Deletion
Tetralogy of Fallot
GPathogenic
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
not specified
GBenign
MT-ATP6, MT-ATP8
+11 more
Deletion
Mitochondrial disease
GPathogenic
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
not provided
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
not specified
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO1
Single nucleotide variant
not provided
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
not provided
GBenign/Likely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
+1 more
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
GLikely pathogenic
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
not provided
Gnot provided
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
not provided
GLikely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
not provided
GBenign/Likely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
+1 more
GBenign/Likely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Familial colorectal cancer
GPathogenic
MT-CO1
Single nucleotide variant
not provided
GLikely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
not provided
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Cytochrome c oxidase I deficiency
GPathogenic
MT-CO1
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
not provided
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO1
Single nucleotide variant
not provided
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-ATP6, MT-ATP8
+18 more
Deletion
Mitochondrial disease
GPathogenic
MT-CO1
Single nucleotide variant
Mitochondrial disease
+1 more
GConflicting classifications of pathogenicity
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
not specified
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GLikely pathogenic
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
not provided
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Deletion
Abnormal mitral valve physiology
GPathogenic
MT-CO1
Single nucleotide variant
not provided
GLikely benign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO1
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO1
Single nucleotide variant
not provided
GBenign
MT-CO1
Deletion
Abnormal mitral valve physiology
GLikely pathogenic
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