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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG13
(E30Q)
Single nucleotide variant
(missense variant +3 more)
Developmental and epileptic encephalopathy, 36
GUncertain significance
ALG13
(S552P +3 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 36
GUncertain significance
ALG13
(P482L +3 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 36
GUncertain significance
ALG13
(K521E +3 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 36
GUncertain significance
ALG13
(L869F +1 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 36
GUncertain significance
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