U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM1L
Indel
(nonsense +1 more)
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
+1 more
GConflicting classifications of pathogenicity
DNM1L
(R220H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNM1L
(R253* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
DNM1L
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
DNM1L
(A550D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination