ClinVar for MedGen (Select 381313) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627914	NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)	MVP-DT, PRRT2 (S95*)	Single nucleotide variant (nonsense)	Infantile convulsions and choreoathetosis +1 more	GPathogenic
Select item 2500700	NM_145239.3(PRRT2):c.1001T>A (p.Ile334Asn)	MVP-DT, PRRT2 (I334N)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 2	GLikely pathogenic
Select item 1809610	NM_145239.3(PRRT2):c.46G>T (p.Glu16Ter)	MVP-DT, PRRT2 (E16*)	Single nucleotide variant (nonsense)	Seizures, benign familial infantile, 2	GPathogenic
Select item 1802974	NM_145239.3(PRRT2):c.397del (p.Glu133fs)	MVP-DT, PRRT2 (E133fs)	Deletion (frameshift variant)	Seizures, benign familial infantile, 2	GPathogenic
Select item 1709866	NM_145239.3(PRRT2):c.515_516del (p.Leu171_Ser172insTer)	MVP-DT, PRRT2	Deletion (nonsense)	Seizures, benign familial infantile, 2	GLikely pathogenic
Select item 1707531	NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu)	MVP-DT, PRRT2 (G305E)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 2	GLikely pathogenic
Select item 1694791	NM_145239.3(PRRT2):c.250del (p.Ala84fs)	MVP-DT, PRRT2 (A84fs)	Deletion (frameshift variant)	Seizures, benign familial infantile, 2 +1 more	GPathogenic/Likely pathogenic
Select item 1485344	NM_145239.3(PRRT2):c.955G>T (p.Val319Leu)	MVP-DT, PRRT2 (V319L)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1342554	NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr)	MVP-DT, PRRT2 (P146T)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +4 more	GUncertain significance
Select item 1333727	NM_145239.3(PRRT2):c.-65-1G>A	MVP-DT, PRRT2	Single nucleotide variant (splice acceptor variant)	Seizures, benign familial infantile, 2	GPathogenic
Select item 976325	NM_145239.3(PRRT2):c.341_342del (p.Val114fs)	MVP-DT, PRRT2 (V114fs)	Deletion (frameshift variant)	Seizures, benign familial infantile, 2	GLikely pathogenic
Select item 953068	NM_145239.3(PRRT2):c.839T>C (p.Met280Thr)	MVP-DT, PRRT2 (M280T)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 2	GUncertain significance
Select item 932548	NM_145239.3(PRRT2):c.880-34G>A	MVP-DT, PRRT2	Single nucleotide variant (3 prime UTR variant +1 more)	Episodic kinesigenic dyskinesia +4 more	GPathogenic/Likely pathogenic
Select item 871891	NM_145239.3(PRRT2):c.971dup (p.Val325fs)	MVP-DT, PRRT2 (V325fs)	Duplication (frameshift variant +1 more)	Episodic kinesigenic dyskinesia +3 more	GPathogenic/Likely pathogenic
Select item 813802	NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)	MVP-DT, PRRT2 (P279A)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 2	GLikely pathogenic
Select item 813798	NC_000016.10:g.(?_29813054)_(29813955_?)del	PRRT2	Deletion	Seizures, benign familial infantile, 2	GPathogenic
Select item 626000	NM_145239.3(PRRT2):c.304del (p.Glu102fs)	MVP-DT, PRRT2 (E102fs)	Deletion (frameshift variant)	Seizures, benign familial infantile, 2 +2 more	GLikely pathogenic
Select item 568591	NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln)	MVP-DT, PRRT2 (R145Q)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +5 more	GConflicting classifications of pathogenicity
Select item 499732	NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg)	MVP-DT, PRRT2 (G305R)	Single nucleotide variant (missense variant +1 more)	Episodic kinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 468617	NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)	MVP-DT, PRRT2 (R217*)	Single nucleotide variant (nonsense)	Episodic kinesigenic dyskinesia +3 more	GPathogenic
Select item 440911	NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)	MVP-DT, PRRT2 (A320V)	Single nucleotide variant (missense variant +1 more)	Episodic kinesigenic dyskinesia 1 +2 more	GConflicting classifications of pathogenicity
Select item 404415	NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)	MVP-DT, PRRT2 (N212S)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia 1 +4 more	GUncertain significance
Select item 284592	NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)	MVP-DT, PRRT2 (G258E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 206696	NM_145239.3(PRRT2):c.971del (p.Gly324fs)	MVP-DT, PRRT2 (G324fs)	Deletion (frameshift variant +1 more)	Seizures, benign familial infantile, 2 +3 more	GPathogenic/Likely pathogenic
Select item 206691	NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp)	MVP-DT, PRRT2 (R311W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 206689	NM_145239.3(PRRT2):c.647C>A (p.Pro216His)	MVP-DT, PRRT2 (P216H)	Single nucleotide variant (missense variant)	not specified +6 more	GLikely benign
Select item 206688	NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg)	MVP-DT, PRRT2 (P215R)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 2 +5 more	GBenign/Likely benign
Select item 183020	NM_145239.3(PRRT2):c.650del (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 167544	NM_145239.3(PRRT2):c.751T>C (p.Leu251=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 138813	NM_145239.3(PRRT2):c.439G>C (p.Asp147His)	MVP-DT, PRRT2 (D147H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 130039	NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)	MVP-DT, PRRT2 (E23K)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 2 +5 more	GConflicting classifications of pathogenicity
Select item 96494	NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)	MVP-DT, PRRT2 (P216L)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +6 more	GBenign/Likely benign
Select item 65758	NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Duplication (frameshift variant)	Paroxysmal nonkinesigenic dyskinesia 1 +13 more	GPathogenic/Likely pathogenic
Select item 39756	NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)	MVP-DT, PRRT2 (Q250*)	Single nucleotide variant (nonsense)	Episodic kinesigenic dyskinesia 1	GPathogenic
Select item 39755	NM_145239.3(PRRT2):c.291del (p.Asn98fs)	MVP-DT, PRRT2 (N98fs)	Deletion (frameshift variant)	Seizures, benign familial infantile, 2	GPathogenic
Select item 39754	NM_145239.3(PRRT2):c.629del (p.Pro210fs)	MVP-DT, PRRT2 (P210fs)	Deletion (frameshift variant)	Episodic kinesigenic dyskinesia 1 +1 more	GPathogenic
Select item 39752	NM_145239.3(PRRT2):c.649del (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Deletion (frameshift variant)	Infantile convulsions and choreoathetosis +5 more	GPathogenic/Likely pathogenic
Select item 31174	NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)	PRRT2, MVP-DT (R240*)	Single nucleotide variant (nonsense)	Episodic kinesigenic dyskinesia +3 more	GPathogenic
Select item 31173	NM_145239.3(PRRT2):c.879+5G>A	MVP-DT, PRRT2 (S295N)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 2	GPathogenic

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Items: 39