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Items: 3

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:4640
GRCh38:
ChrMT:4640
MT-ND2Leber's optic atrophyPathogenic
(Sep 19, 2013)
no assertion criteria provided
2.
GRCh37:
ChrMT:4681
GRCh38:
ChrMT:4681
MT-ND2Leigh's disease, Leigh syndrome due to mitochondrial complex I deficiencyPathogenic
(Apr 17, 2014)
no assertion criteria provided
3.
GRCh37:
ChrMT:5244
GRCh38:
ChrMT:5244
MT-ND2Leber's optic atrophyPathogenic
(Sep 19, 2013)
no assertion criteria provided
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