"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931647	NM_145239.3(PRRT2):c.524T>C (p.Val175Ala)	MVP-DT, PRRT2 (V175A)	Single nucleotide variant (missense variant)	Infantile convulsions and choreoathetosis	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 374089	NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly)	MVP-DT, PRRT2 (E225G)	Single nucleotide variant (missense variant)	Infantile convulsions and choreoathetosis +4 more	GUncertain significance
Select item 932118	NM_145239.3(PRRT2):c.910G>A (p.Asp304Asn)	MVP-DT, PRRT2 (D304N)	Single nucleotide variant (missense variant +1 more)	Infantile convulsions and choreoathetosis	GUncertain significance
Select item 931004	NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)	MVP-DT, PRRT2 (A330T)	Single nucleotide variant (missense variant +1 more)	Episodic kinesigenic dyskinesia +1 more	GUncertain significance
Select item 523255	GRCh37/hg19 16p11.2(chr16:29656684-30197341)	ASPHD1, C16orf54 +25 more	Copy number gain	Intellectual disability, mild +8 more	GLikely pathogenic
Select item 523254	GRCh37/hg19 16p11.2(chr16:29592783-30190568)	PPP4C, PRRT2 +24 more	Copy number loss	Obesity +2 more	GPathogenic

ClinVar