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Items: 1 to 100 of 128

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-CO2
Single nucleotide variant
Cytochrome-c oxidase deficiency disease
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
Cytochrome-c oxidase deficiency disease
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-TR, MT-CO3
+8 more
Deletion
Mitochondrial disease
GPathogenic
MT-CO2
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
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
Cytochrome-c oxidase deficiency disease
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
Decreased activity of mitochondrial complex IV
+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
Cytochrome-c oxidase deficiency disease
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
Cytochrome-c oxidase deficiency disease
GPathogenic
MT-CO2
Single nucleotide variant
not provided
GUncertain significance
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