U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDOA, ASPHD1
+101 more
Deletion
Proximal 16p11.2 microdeletion syndrome
GPathogenic
MVP-DT, PRRT2
(L171fs)
Duplication
(frameshift variant)
Episodic kinesigenic dyskinesia 1
Gnot provided
MVP-DT, PRRT2
(R217fs)
Duplication
(frameshift variant)
Episodic kinesigenic dyskinesia
+14 more
GPathogenic/Likely pathogenic
MVP-DT, PRRT2
(P216R)
Single nucleotide variant
(missense variant)
Episodic kinesigenic dyskinesia
+4 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination