"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180574	NM_000360.4(TH):c.1105-78A>G	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185443	NM_000360.4(TH):c.1048-110A>C	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 263250	NM_000360.4(TH):c.977+8C>G	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 263258	NM_000360.4(TH):c.720G>A (p.Lys240=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +2 more	GBenign
Select item 1180577	NM_000360.4(TH):c.695+99G>A	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 263257	NM_000360.4(TH):c.577-22C>T	TH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 21866	NM_000360.4(TH):c.241G>A (p.Val81Met)	TH (V112M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +3 more	GBenign/Likely benign
Select item 1185444	NM_000360.4(TH):c.91-54A>G	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

ClinVar