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Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-ATP6, MT-ATP8
+20 more
Single nucleotide variant
Leigh syndrome
+2 more
GPathogenic/Likely pathogenic
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-CO2
Single nucleotide variant
Mitochondrial complex IV deficiency, nuclear type 1
GPathogenic
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
not specified
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
not specified
GUncertain significance
MT-CO2
Single nucleotide variant
not provided
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-CO2
Deletion
Tetralogy of Fallot
GPathogenic
MT-CO2
Single nucleotide variant
not specified
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Insertion
Abnormal aortic valve physiology
GLikely pathogenic
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Insertion
Abnormal aortic valve physiology
GLikely pathogenic
MT-CO2
Single nucleotide variant
Mitochondrial complex IV deficiency, nuclear type 1
GPathogenic
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Insertion
Abnormal mitral valve physiology
GPathogenic
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ATP6, MT-ATP8
+8 more
Deletion
Mitochondrial disease
GPathogenic
MT-CO2
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Single nucleotide variant
not provided
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Insertion
Abnormal mitral valve physiology
GPathogenic
MT-CO2
Single nucleotide variant
not provided
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Duplication
Abnormal mitral valve physiology
GPathogenic
MT-CO2
Single nucleotide variant
not provided
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
not provided
GLikely benign
MT-CO2
Single nucleotide variant
not provided
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
not provided
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Mitochondrial complex IV deficiency, nuclear type 1
GPathogenic
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
+1 more
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
not provided
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Mitochondrial complex IV deficiency, nuclear type 1
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
not specified
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO2
Deletion
Mitochondrial complex IV deficiency, nuclear type 1
GPathogenic
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