"GenomeConnect, ClinGen"[submitter] AND "PRRT2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1810304	GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3	MVP, YPEL3 +27 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1810288	GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1	C16orf92, CDIPT +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	Gnot provided
Select item 1339950	GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1339949	GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3	ALDOA, ASPHD1 +24 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1339776	GRCh37/hg19 16p11.2(chr16:29678569-30198121)x1	ALDOA, ASPHD1 +25 more	Copy number loss	not provided	Gnot provided

ClinVar