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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM1L
(K152N +1 more)
Single nucleotide variant
(missense variant +1 more)
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
GUncertain significance
DNM1L
(G160S +2 more)
Single nucleotide variant
(missense variant)
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
GLikely pathogenic
DNM1L
(I239N +2 more)
Single nucleotide variant
(missense variant)
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
GUncertain significance
DNM1L
(K476Q +7 more)
Single nucleotide variant
(missense variant)
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
GUncertain significance
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