"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PRRT2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 568591	NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln)	MVP-DT, PRRT2 (R145Q)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 2 +4 more	GConflicting classifications of pathogenicity
Select item 138813	NM_145239.3(PRRT2):c.439G>C (p.Asp147His)	MVP-DT, PRRT2 (D147H)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +6 more	GBenign/Likely benign
Select item 404415	NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)	MVP-DT, PRRT2 (N212S)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +4 more	GUncertain significance
Select item 65758	NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Duplication (frameshift variant)	Infantile convulsions and choreoathetosis +12 more	GPathogenic/Likely pathogenic
Select item 39752	NM_145239.3(PRRT2):c.649del (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Deletion (frameshift variant)	Episodic kinesigenic dyskinesia 1 +6 more	GPathogenic/Likely pathogenic
Select item 206688	NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg)	MVP-DT, PRRT2 (P215R)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 206689	NM_145239.3(PRRT2):c.647C>A (p.Pro216His)	MVP-DT, PRRT2 (P216H)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +7 more	GLikely benign
Select item 96494	NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)	MVP-DT, PRRT2 (P216L)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign