U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 177

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-TR, MT-TS2
+11 more
Deletion
Pearson syndrome
GPathogenic
MT-TG, MT-TH
+10 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+10 more
Deletion
Pearson syndrome
GPathogenic
MT-ND4L, MT-ND5
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-CO3, MT-ND3
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-TH, MT-TL2
+12 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ATP6, MT-CO3
Deletion
Mitochondrial disease
GLikely pathogenic
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
Leber optic atrophy
GPathogenic
MT-CO3
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Insertion
Tetralogy of Fallot
GPathogenic
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
not provided
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Insertion
Abnormal aortic valve physiology
GLikely pathogenic
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
not provided
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
not provided
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Cerebellar ataxia
+12 more
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
not provided
GLikely benign
MT-CO3
Single nucleotide variant
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
GPathogenic
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Insertion
Tetralogy of Fallot
GPathogenic
MT-CO3
Insertion
Abnormal aortic valve physiology
GPathogenic
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Insertion
Tetralogy of Fallot
GPathogenic
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
not provided
GLikely benign
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
not specified
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Deletion
Mitochondrial complex IV deficiency with recurrent myoglobinuria
+1 more
GPathogenic
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
not provided
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
MT-CO3
Duplication
Cytochrome-c oxidase deficiency disease
GPathogenic
MT-CO3
Single nucleotide variant
not provided
GBenign
MT-CO3
Single nucleotide variant
Leigh syndrome
+1 more
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
not specified
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-CO3
Single nucleotide variant
Leigh syndrome
GBenign
Format
Items per page
Sort by
Choose Destination