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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPM2A
(G221R)
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
EPM2A
(A248V +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GUncertain significance
EPM2A
(R241Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Seizure
+6 more
GConflicting classifications of pathogenicity
EPM2A
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
EPM2A
(A227V +2 more)
Single nucleotide variant
(missense variant +1 more)
EPM2A-related condition
+3 more
GConflicting classifications of pathogenicity
EPM2A
(D215V +2 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
+1 more
GUncertain significance
EPM2A
(R207H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
EPM2A
(Q200H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EPM2A
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
EPM2A
(I126V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
EPM2A, EPM2A-DT
+1 more
(G79R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GUncertain significance
EPM2A, EPM2A-DT
+1 more
(Q55K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GBenign
EPM2A, EPM2A-DT
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+4 more
GBenign
EPM2A, EPM2A-DT
+1 more
(A46P)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign
EPM2A, EPM2A-DT
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
EPM2A-DT, EPM2A
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
EPM2A, EPM2A-DT
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GBenign
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