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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MVP-DT, PRRT2
(A84fs)
Deletion
(frameshift variant)
Seizures, benign familial infantile, 2
+1 more
GPathogenic/Likely pathogenic
MVP-DT, PRRT2
Deletion
(nonsense)
Seizures, benign familial infantile, 2
GLikely pathogenic
MVP-DT, PRRT2
(S174fs)
Deletion
(frameshift variant)
Episodic kinesigenic dyskinesia 1
GLikely pathogenic
MVP-DT, PRRT2
(R217fs)
Duplication
(frameshift variant)
Episodic kinesigenic dyskinesia 1
+13 more
GPathogenic/Likely pathogenic
MVP-DT, PRRT2
(R217*)
Single nucleotide variant
(nonsense)
Infantile convulsions and choreoathetosis
+3 more
GPathogenic
MVP-DT, PRRT2
(R240*)
Single nucleotide variant
(nonsense)
Seizures, benign familial infantile, 2
+3 more
GPathogenic
MVP-DT, PRRT2
(R308C)
Single nucleotide variant
(missense variant +1 more)
Episodic kinesigenic dyskinesia 1
+2 more
GConflicting classifications of pathogenicity
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