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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-RNR1, MT-TS1
Single nucleotide variant
Mitochondrial disease
+5 more
GLikely pathogenic; drug response
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-CO1, MT-TS1
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
GPathogenic
MT-TS1
Duplication
Mitochondrial disease
GPathogenic
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
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+2 more
GPathogenic/Likely pathogenic
MT-ND4L, MT-ND5
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
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