"Revvity Omics, Revvity"[submitter] AND "PRRT2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690483	NM_145239.3(PRRT2):c.529G>A (p.Glu177Lys)	MVP-DT, PRRT2 (E177K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1323500	NM_145239.3(PRRT2):c.621dup (p.Ser208fs)	MVP-DT, PRRT2 (S208fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 703480	NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr)	MVP-DT, PRRT2 (S208Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 65758	NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Duplication (frameshift variant)	Neurodevelopmental delay +12 more	GPathogenic/Likely pathogenic
Select item 39752	NM_145239.3(PRRT2):c.649del (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Deletion (frameshift variant)	Infantile convulsions and choreoathetosis +6 more	GPathogenic/Likely pathogenic
Select item 1061247	NM_145239.3(PRRT2):c.649C>A (p.Arg217=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	Episodic kinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1161012	NM_145239.3(PRRT2):c.880-10C>T	MVP-DT, PRRT2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 570056	NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln)	MVP-DT, PRRT2 (R295Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2435264	NM_145239.3(PRRT2):c.919C>A (p.Gln307Lys)	MVP-DT, PRRT2 (Q307K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance