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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YEATS2
(L557F +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 4
GUncertain significance
YEATS2, YEATS2-AS1
(A1363T +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 4
GUncertain significance
YEATS2
(D148E)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 4
GUncertain significance
YEATS2
Single nucleotide variant
(intron variant)
Epilepsy, familial adult myoclonic, 4
GBenign
YEATS2
(G814del +1 more)
Microsatellite
(inframe_deletion)
Epilepsy, familial adult myoclonic, 4
GBenign
YEATS2
Microsatellite
(intron variant)
Epilepsy, familial adult myoclonic, 4
GBenign
YEATS2
(V530I +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 4
GBenign
YEATS2
Insertion
(intron variant)
Epilepsy, familial adult myoclonic, 4
GBenign
YEATS2
Single nucleotide variant
(intron variant)
Epilepsy, familial adult myoclonic, 4
GBenign
YEATS2
(T535K +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 4
+1 more
GBenign/Likely benign
YEATS2
Microsatellite
Epilepsy, familial adult myoclonic, 4
GPathogenic
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