C1414216[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521683	NM_018105.3(THAP1):c.506G>A (p.Arg169Gln)	THAP1 (R169Q)	Single nucleotide variant (missense variant +1 more)	Torsion dystonia 6 +2 more	GUncertain significance
Select item 425441	NM_018105.3(THAP1):c.62C>T (p.Ser21Phe)	THAP1 (S21F)	Single nucleotide variant (missense variant)	Torsion dystonia 6 +1 more	GLikely pathogenic