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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-RNR1, MT-TS1
Single nucleotide variant
tobramycin response - Toxicity
+5 more
GLikely pathogenic; drug response
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-CO1, MT-TS1
Single nucleotide variant
Mitochondrial non-syndromic sensorineural hearing loss
GPathogenic
MT-CO1, MT-TS1
Single nucleotide variant
Mitochondrial disease
GLikely benign
MT-TS1, MT-CO1
Single nucleotide variant
Mitochondrial non-syndromic sensorineural hearing loss
GPathogenic
MT-CO1, MT-TS1
Single nucleotide variant
Mitochondrial non-syndromic sensorineural hearing loss
GPathogenic
MT-CO1, MT-TS1
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-TS1
Single nucleotide variant
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
GPathogenic/Likely pathogenic
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TS1
Single nucleotide variant
Mitochondrial complex IV deficiency, nuclear type 1
GUncertain significance
MT-TS1
Duplication
Mitochondrial disease
GPathogenic
MT-TS1
Deletion
not specified
+1 more
GConflicting classifications of pathogenicity
MT-TS1
Single nucleotide variant
not provided
+1 more
GBenign
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+1 more
GBenign/Likely benign
MT-TS1
Single nucleotide variant
not specified
GUncertain significance
MT-TS1
Single nucleotide variant
not specified
+1 more
GBenign/Likely benign
MT-TS1
Single nucleotide variant
Mitochondrial disease
GBenign
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TS1
Single nucleotide variant
Progressive external ophthalmoplegia
GUncertain significance
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TS1
Single nucleotide variant
not specified
+1 more
GBenign
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TS1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+1 more
GBenign
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TS1
Single nucleotide variant
not specified
GUncertain significance
MT-TS1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TS1
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TS1
Single nucleotide variant
Mitochondrial complex IV deficiency, nuclear type 1
GPathogenic
MT-TS1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TS1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TS1
Single nucleotide variant
MERRF/MELAS overlap syndrome
+2 more
GPathogenic/Likely pathogenic
MT-ATP6, MT-ATP8
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
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