"3billion"[submitter] AND "TH"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12326	NM_000360.4(TH):c.1388C>T (p.Thr463Met)	TH (T494M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 806594	NM_000360.4(TH):c.1358G>A (p.Arg453His)	TH (R453H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +2 more	GConflicting classifications of pathogenicity
Select item 1320094	NM_000360.4(TH):c.1300T>C (p.Ser434Pro)	TH (S434P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2572586	NM_000360.4(TH):c.1287_1290del (p.Val430fs)	TH (V430fs +2 more)	Microsatellite (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 12327	NM_000360.4(TH):c.605G>A (p.Arg202His)	TH (R233H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 449110	NM_000360.4(TH):c.364C>T (p.Arg122Ter)	TH (R153* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

ClinVar