"Undiagnosed Diseases Network, NIH"[submitter] AND "TH"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 640660	NM_000360.4(TH):c.604C>T (p.Arg202Cys)	TH (R229C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 3068430	NM_000360.4(TH):c.487+118G>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance