"Invitae"[submitter] AND "PAGR1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584215	NC_000016.10:g.(?_29813055)_(29904965_?)del	LOC112352680, LOC121847977 +16 more	Deletion	Episodic kinesigenic dyskinesia	GPathogenic
Select item 716597	NM_024516.4(PAGR1):c.566-9C>T	MVP-DT, PAGR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2427335	NC_000016.9:g.(?_29825262)_(29830230_?)del	PRRT2, PAGR1	Deletion	Episodic kinesigenic dyskinesia	GPathogenic
Select item 1075384	NC_000016.9:g.(?_29802081)_(30200285_?)del	ALDOA, ASPHD1 +21 more	Deletion	Episodic kinesigenic dyskinesia	GPathogenic
Select item 1063963	NC_000016.9:g.(?_29802081)_(30199917_?)dup	TMEM219, YPEL3 +21 more	Duplication	HNSHA due to aldolase A deficiency +2 more	GUncertain significance
Select item 1054446	NC_000016.9:g.(?_29802081)_(30199917_?)del	KIF22, MAPK3 +21 more	Deletion	Episodic kinesigenic dyskinesia	GPathogenic
Select item 1025477	NC_000016.9:g.(?_29802081)_(30200285_?)dup	KCTD13, MVP +21 more	Duplication	Episodic kinesigenic dyskinesia	GUncertain significance

ClinVar