U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(S1110fs +5 more)
Duplication
(non-coding transcript variant +1 more)
Polymicrogyria
+11 more
GPathogenic
PIK3CA
(V344M)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+3 more
GPathogenic