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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHA
(R31*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+9 more
GPathogenic/Likely pathogenic
FOXRED1
(A206fs)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+12 more
GPathogenic/Likely pathogenic
MT-ND1
Single nucleotide variant
Abnormal CSF lactate concentration
+6 more
GUncertain significance
MT-TK
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND3, MT-ND4
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ATP6
Single nucleotide variant
Leigh syndrome
+4 more
GLikely pathogenic
MT-ATP6
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-CO3
Single nucleotide variant
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
GUncertain significance
MT-ND5
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND6
Single nucleotide variant
Mitochondrial disease
GPathogenic
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