ClinVar for MedGen (Select 1841281) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574617	NM_004758.4(TSPOAP1):c.2449_2450inv (p.Gln817Ter)	TSPOAP1 (Q817* +1 more)	Inversion (nonsense)	Dystonia 22, juvenile-onset	GPathogenic
Select item 2574616	NM_004758.4(TSPOAP1):c.538del (p.Ala180fs)	TSPOAP1, TSPOAP1-AS1 (A180fs)	Deletion (frameshift variant)	Dystonia 22, juvenile-onset	GPathogenic