ClinVar for MedGen (Select 1636366) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682262	NM_145239.3(PRRT2):c.739_740delinsG (p.Pro247fs)	MVP-DT, PRRT2 (P247fs)	Indel (frameshift variant)	Episodic kinesigenic dyskinesia 1	GPathogenic
Select item 2637572	NM_145239.3(PRRT2):c.741del (p.Ser248fs)	MVP-DT, PRRT2 (S248fs)	Deletion (frameshift variant)	Episodic kinesigenic dyskinesia +1 more	GPathogenic
Select item 2584342	NM_145239.3(PRRT2):c.457_458del (p.Lys153fs)	MVP-DT, PRRT2 (K153fs)	Deletion (frameshift variant)	Episodic kinesigenic dyskinesia 1	GLikely pathogenic
Select item 2134411	NM_145239.3(PRRT2):c.128A>G (p.Asp43Gly)	MVP-DT, PRRT2 (D43G)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 1709692	NM_145239.3(PRRT2):c.521_530del (p.Ser174fs)	MVP-DT, PRRT2 (S174fs)	Deletion (frameshift variant)	Episodic kinesigenic dyskinesia 1	GLikely pathogenic
Select item 1699415	NM_145239.3(PRRT2):c.769G>A (p.Glu257Lys)	MVP-DT, PRRT2 (E257K)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia 1	GUncertain significance
Select item 1686101	NM_145239.3(PRRT2):c.1021T>C (p.Ter341Arg)	MVP-DT, PRRT2	Single nucleotide variant (stop lost +1 more)	Episodic kinesigenic dyskinesia 1	GPathogenic
Select item 1526074	NM_145239.3(PRRT2):c.1012+5G>T	MVP-DT, PRRT2 (E339D)	Single nucleotide variant (missense variant +2 more)	Episodic kinesigenic dyskinesia 1	GUncertain significance
Select item 1342554	NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr)	MVP-DT, PRRT2 (P146T)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 2 +3 more	GUncertain significance
Select item 1306623	NM_145239.3(PRRT2):c.976C>A (p.Leu326Ile)	MVP-DT, PRRT2 (L326I)	Single nucleotide variant (missense variant +1 more)	Episodic kinesigenic dyskinesia 1 +1 more	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)	Seizures, benign familial infantile, 2 +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 +4 more	GPathogenic/Likely pathogenic
Select item 845093	NM_145239.3(PRRT2):c.15CTCTGAGAT[3] (p.Ile8_Glu10dup)	MVP-DT, PRRT2	Microsatellite (inframe_insertion)	Episodic kinesigenic dyskinesia 1 +1 more	GUncertain significance
Select item 813794	NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)	MVP-DT, PRRT2 (P18fs)	Microsatellite (frameshift variant)	Episodic kinesigenic dyskinesia 1	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 522556	NM_145239.3(PRRT2):c.535_538del (p.Gln179fs)	MVP-DT, PRRT2 (Q179fs)	Deletion (frameshift variant)	Episodic kinesigenic dyskinesia 1	GPathogenic
Select item 449322	NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys)	MVP-DT, PRRT2 (R308C)	Single nucleotide variant (missense variant +1 more)	Episodic kinesigenic dyskinesia 1 +2 more	GConflicting classifications of pathogenicity
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 417331	NC_000016.9:g.(?_29824311)_(29827202_?)dup	LOC130058790, MVP-DT +1 more	Duplication	Episodic kinesigenic dyskinesia 1	GUncertain significance
Select item 404415	NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)	MVP-DT, PRRT2 (N212S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 372477	NM_145239.3(PRRT2):c.1011C>T (p.Gly337=)	MVP-DT, PRRT2	Single nucleotide variant (synonymous variant +1 more)	Episodic kinesigenic dyskinesia 1 +2 more	GConflicting classifications of pathogenicity
Select item 284592	NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)	MVP-DT, PRRT2 (G258E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 280888	NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)	MVP-DT, PRRT2 (S110fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 206696	NM_145239.3(PRRT2):c.971del (p.Gly324fs)	MVP-DT, PRRT2 (G324fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 206689	NM_145239.3(PRRT2):c.647C>A (p.Pro216His)	MVP-DT, PRRT2 (P216H)	Single nucleotide variant (missense variant)	not specified +7 more	GLikely benign
Select item 206688	NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg)	MVP-DT, PRRT2 (P215R)	Single nucleotide variant (missense variant)	PRRT2-related disorder +6 more	GBenign/Likely benign
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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 130038	NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)	MVP-DT, PRRT2 (P138A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 96494	NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)	MVP-DT, PRRT2 (P216L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 65758	NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Duplication (frameshift variant)	Neurodevelopmental delay +13 more	GPathogenic/Likely pathogenic
Select item 65757	NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)	MVP-DT, PRRT2 (P216R)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia 1 +4 more	GConflicting classifications of pathogenicity
Select item 65756	NM_145239.3(PRRT2):c.510dup (p.Leu171fs)	MVP-DT, PRRT2 (L171fs)	Duplication (frameshift variant)	Episodic kinesigenic dyskinesia 1	Gnot provided
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 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)	Episodic kinesigenic dyskinesia 1 +6 more	GPathogenic/Likely pathogenic
Select item 31177	NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp)	MVP-DT, PRRT2 (R266W)	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 31176	NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter)	MVP-DT, PRRT2 (Q163*)	Single nucleotide variant (nonsense)	Infantile convulsions and choreoathetosis +1 more	GPathogenic
Select item 31174	NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)	MVP-DT, PRRT2 (R240*)	Single nucleotide variant (nonsense)	Episodic kinesigenic dyskinesia +3 more	GPathogenic
Select item 31171	NM_145239.3(PRRT2):c.629dup (p.Ala211fs)	MVP-DT, PRRT2 (A211fs)	Duplication (frameshift variant)	Episodic kinesigenic dyskinesia +2 more	GPathogenic
Select item 31170	NM_145239.3(PRRT2):c.972del (p.Val325fs)	MVP-DT, PRRT2 (V325fs)	Deletion (3 prime UTR variant +1 more)	Episodic kinesigenic dyskinesia 1	GPathogenic
Select item 31169	NM_145239.3(PRRT2):c.514_517del (p.Ser172fs)	MVP-DT, PRRT2 (S172fs)	Microsatellite (frameshift variant)	Episodic kinesigenic dyskinesia	GPathogenic

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Items: 44