"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "TH"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380006	NM_000360.4(TH):c.1430G>C (p.Arg477Pro)	TH (R477P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518193	NM_000360.4(TH):c.1277C>T (p.Thr426Met)	TH (T426M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 304077	NM_000360.4(TH):c.627C>G (p.Ile209Met)	TH (I209M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 665511	NM_000360.4(TH):c.284C>G (p.Ala95Gly)	TH (A122G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 695326	NM_000360.4(TH):c.81G>T (p.Glu27Asp)	TH (E27D)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GConflicting classifications of pathogenicity
Select item 2683131	NM_000360.4(TH):c.52G>A (p.Val18Met)	TH (V18M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar