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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-ND1
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ND1
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND1
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ND1
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ND1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+2 more
GPathogenic/Likely pathogenic
MT-ND1
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND1
Single nucleotide variant
Leber optic atrophy
GPathogenic
MT-ND1
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ND1
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND2
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND2
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-CO1, MT-TS1
Single nucleotide variant
Mitochondrial disease
GLikely benign
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ATP6
Single nucleotide variant
Leigh syndrome
GBenign
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-CO3
Single nucleotide variant
not provided
+3 more
GConflicting classifications of pathogenicity
MT-ND3
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND4L
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND4
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND4
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND4
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND4
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND5
(F124L)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GLikely pathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
GBenign
MT-ND5
Single nucleotide variant
Leber optic atrophy
GPathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leber optic atrophy
GPathogenic
MT-ND6
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND6
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND6
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND6
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND6
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND6
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND6
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND6
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND6
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND6
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND6
Single nucleotide variant
Leber optic atrophy and dystonia
GPathogenic
MT-CYB
Single nucleotide variant
Leigh syndrome
GBenign
MT-CYB
Single nucleotide variant
Leigh syndrome
GBenign
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