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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MVP-DT, PRRT2
(E23K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
MVP-DT, PRRT2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
MVP-DT, PRRT2
(D147H)
Single nucleotide variant
(missense variant)
Episodic kinesigenic dyskinesia
+6 more
GBenign/Likely benign
MVP-DT, PRRT2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
MVP-DT, PRRT2
(R217fs)
Duplication
(frameshift variant)
Paroxysmal nonkinesigenic dyskinesia 1
+13 more
GPathogenic/Likely pathogenic
MVP-DT, PRRT2
(R217fs)
Deletion
(frameshift variant)
Episodic kinesigenic dyskinesia 1
+6 more
GPathogenic/Likely pathogenic
MVP-DT, PRRT2
(P216L)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
MVP-DT, PRRT2
(R217*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
MVP-DT, PRRT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
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