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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN2A
(E999K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SIK1
(Q678H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SIK1
(P671L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 30
+1 more
GUncertain significance
SIK1
(P635L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SIK1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 30
GConflicting classifications of pathogenicity
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