ドーパ反応性ジストニア（瀬川病）

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000161.3(GCH1):c.655C>T (p.Gln219Ter)	GCH1	Likely pathogenic	14	55310833	55310833	G	A	criteria provided, single submitter	ClinGen:CA389787183
Deletion	NC_000014.9:g.(?_54902301)_(54902683_?)del	GCH1	Pathogenic	14	55369019	55369401	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.626+1G>A	GCH1	Pathogenic/Likely pathogenic	14	55312485	55312485	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA389787258,OMIM:600225.0019
single nucleotide variant	NM_000161.3(GCH1):c.344-1G>A	GCH1	Pathogenic	14	55332155	55332155	C	T	criteria provided, single submitter	ClinGen:CA389790328
Indel	NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs)	GCH1	Pathogenic	14	55369185	55369196	AGCTCGTTATCC	T	criteria provided, single submitter	ClinGen:CA658798217
single nucleotide variant	NM_000161.3(GCH1):c.614T>A (p.Val205Glu)	GCH1	Pathogenic/Likely pathogenic	14	55312498	55312498	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000161.3(GCH1):c.281C>A (p.Thr94Lys)	GCH1	Likely pathogenic	14	55369101	55369101	G	T	criteria provided, single submitter	-
Deletion	NM_000161.3(GCH1):c.220_223del (p.Ala74fs)	GCH1	Pathogenic	14	55369159	55369162	TAGGC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.632T>C (p.Met211Thr)	GCH1	Likely pathogenic	14	55310856	55310856	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.532A>T (p.Arg178Ter)	GCH1	Pathogenic	14	55313826	55313826	T	A	criteria provided, single submitter	-