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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STARD7
(N181S +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 2
+1 more
GUncertain significance
STARD7
(R140C +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 2
GUncertain significance
LOC129934328, STARD7
(G59C)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 2
GUncertain significance
STARD7
(P121S +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 2
GUncertain significance
ADRA2B
(E217K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADRA2B
(D92N)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 2
GUncertain significance
STARD7
Microsatellite
Epilepsy, familial adult myoclonic, 2
GPathogenic
STARD7
Microsatellite
Epilepsy, familial adult myoclonic, 2
GPathogenic
ADRA2B
Indel
(inframe_indel)
Epilepsy, familial adult myoclonic, 2
GUncertain significance
ADRA2B
(R222*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
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