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Results: 7

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
MT-TFNEPHROPATHY, TUBULOINTERSTITIALPathogenic
(Apr 12, 2011)
classified by single submitterMT608
2.
MT-TFEncephalopathy, mitochondrialPathogenic
(Apr 12, 2011)
classified by single submitterMT586
3.
MT-TFEpilepsy, mitochondrialPathogenic
(Apr 12, 2011)
classified by single submitterMT616
4.
MT-TFEpilepsy, mitochondrialPathogenic
(Apr 12, 2011)
classified by single submitterMT616
5.
MT-TFMyopathy, mitochondrial, late-onsetPathogenic
(Apr 12, 2011)
classified by single submitterMT622
6.
MT-TFMyoclonus with epilepsy with ragged red fibersPathogenic
(Apr 12, 2011)
classified by single submitterMT611
7.
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Apr 12, 2011)
classified by single submitterMT583

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