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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPM2A, EPM2A-DT
+1 more
(E28fs)
Deletion
(frameshift variant +2 more)
Myoclonic epilepsy of Lafora 1
GLikely pathogenic
EPM2A, EPM2A-DT
+1 more
(W60fs)
Deletion
(frameshift variant +2 more)
Myoclonic epilepsy of Lafora 1
GLikely pathogenic
EPM2A, EPM2A-DT
+1 more
(F88Y)
Single nucleotide variant
(missense variant +2 more)
Myoclonic epilepsy of Lafora 1
GLikely pathogenic
EPM2A, EPM2A-DT
+1 more
(E70V)
Single nucleotide variant
(missense variant +2 more)
Myoclonic epilepsy of Lafora 1
+1 more
GUncertain significance
EPM2A, EPM2A-DT
+1 more
(E56*)
Single nucleotide variant
(nonsense +2 more)
Myoclonic epilepsy of Lafora 1
+1 more
GPathogenic
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