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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-CYB
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+6 more
Gnot provided
MT-TK
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+1 more
GConflicting classifications of pathogenicity
MT-TG, MT-TH
+10 more
Deletion
Mitochondrial disease
GPathogenic
MT-TL1
Single nucleotide variant
Kearns-Sayre syndrome
GUncertain significance
MT-TY
Single nucleotide variant
Kearns-Sayre syndrome
GPathogenic
MT-TY
Deletion
Kearns-Sayre syndrome
GPathogenic
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