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Items: 1 to 100 of 328

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-ND4, MT-ND4L
+17 more
Deletion
Macrocytic dyserythropoietic anemia
+1 more
GLikely pathogenic
MT-ATP6, MT-ATP8
+20 more
Deletion
Macrocytic dyserythropoietic anemia
+1 more
GLikely pathogenic
MT-ATP6, MT-ATP8
+18 more
Deletion
Mitochondrial disease
GPathogenic
MT-CO3, MT-ND3
+15 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+11 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+11 more
Deletion
Pearson syndrome
GPathogenic
MT-ATP6, MT-ATP8
+10 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+10 more
Deletion
Pearson syndrome
GPathogenic
MT-ATP6, MT-CO3
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-CO3
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-ND5, MT-ND6
+12 more
Deletion
Mitochondrial disease
GPathogenic
MT-ATP6, MT-ATP8
+24 more
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-ND5, MT-ND6
+9 more
Deletion
Mitochondrial disease
GPathogenic
MT-TL2, MT-TS2
+6 more
Deletion
not provided
GPathogenic
MT-CYB, MT-ND4
+6 more
Deletion
Pearson syndrome
GPathogenic
MT-TE, MT-CYB
+6 more
Deletion
Mitochondrial disease
GPathogenic
MT-ND4, MT-ND5
+4 more
Deletion
Mitochondrial disease
GPathogenic
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
+1 more
GBenign/Likely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
not specified
+1 more
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Deletion
Mitochondrial disease
GLikely pathogenic
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
not provided
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
not provided
GUncertain significance
MT-ND5
Single nucleotide variant
not provided
Gnot provided
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
not provided
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
(N109Y)
Single nucleotide variant
(missense variant)
Leigh syndrome
GLikely benign
MT-ND5
(N109S)
Single nucleotide variant
(missense variant)
Leigh syndrome
GBenign
MT-ND5
(N113D)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
MT-ND5
(N113S)
Single nucleotide variant
(missense variant)
Leigh syndrome
GLikely benign
MT-ND5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MT-ND5
(F124L)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GLikely pathogenic
MT-ND5
(I126T)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
MT-ND5
(T127A)
Single nucleotide variant
(missense variant)
Leigh syndrome
GBenign
MT-ND5
(V132I)
Single nucleotide variant
(missense variant)
Leigh syndrome
GLikely benign
MT-ND5
(N136S)
Single nucleotide variant
(missense variant)
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
not provided
GLikely benign
MT-ND5
Single nucleotide variant
Mitochondrial disease
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
MT-ND5
Single nucleotide variant
Leigh syndrome
GBenign
MT-ND5
Single nucleotide variant
Leigh syndrome
GUncertain significance
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