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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-ND4L, MT-ND5
+17 more
Deletion
Primary dilated cardiomyopathy
+1 more
GLikely pathogenic
MT-CYB, MT-ND3
+20 more
Deletion
Primary dilated cardiomyopathy
+1 more
GLikely pathogenic
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TY
Single nucleotide variant
Exercise intolerance and complex III deficiency, somatic
GPathogenic
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TY
Single nucleotide variant
Kearns-Sayre syndrome
GPathogenic
MT-TY
Single nucleotide variant
See cases
+1 more
GUncertain significance
MT-TY
Deletion
Kearns-Sayre syndrome
GPathogenic
MT-TY
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-ATP6, MT-ATP8
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
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