"Institute of Human Genetics, University Hospital of Duesseldorf"[subm - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498245	NM_001193329.3(AOPEP):c.703C>T (p.Gln235Ter)	AOPEP (Q235*)	Single nucleotide variant (nonsense +2 more)	Dystonia 31	GLikely pathogenic
Select item 2663844	NM_001193329.3(AOPEP):c.964+2T>G	AOPEP	Single nucleotide variant (splice donor variant +1 more)	Dystonia 31	GPathogenic
Select item 1319963	NM_001193329.3(AOPEP):c.1744del (p.Met582fs)	AOPEP (M152fs +3 more)	Deletion (frameshift variant +2 more)	Dystonia 31	GPathogenic

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