U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM1
(E468K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 31A
+1 more
GUncertain significance
DNM1
(P756T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 31B
GUncertain significance
DNM1
(P753S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 31B
GUncertain significance
DNM1, LOC113839516
(P117fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 31B
GPathogenic
DNM1
(Q284*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CIZ1, DNM1
(Q33*)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy, 31B
GPathogenic
Format
Items per page
Sort by
Choose Destination