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.752G>C (p.Ter251Ser)	GCH1	Pathogenic	14	55310736	55310736	C	G	criteria provided, single submitter	ClinGen:CA389786574
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
single nucleotide variant	NM_000161.3(GCH1):c.632T>C (p.Met211Thr)	GCH1	Likely pathogenic	14	55310856	55310856	A	G	criteria provided, single submitter	-
Deletion	NM_000161.3(GCH1):c.631_632del (p.Met211fs)	GCH1	Pathogenic	14	55310856	55310857	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588575
single nucleotide variant	NM_000161.3(GCH1):c.626+1G>T	GCH1	Pathogenic	14	55312485	55312485	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA389787259
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.614T>A (p.Val205Glu)	GCH1	Pathogenic/Likely pathogenic	14	55312498	55312498	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000161.3(GCH1):c.610del (p.Gly203_Val204insTer)	GCH1	Likely pathogenic	14	55312502	55312502	AC	A	criteria provided, single submitter	ClinGen:CA10588576
single nucleotide variant	NM_000161.3(GCH1):c.607G>A (p.Gly203Arg)	GCH1	Pathogenic	14	55312505	55312505	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606864
single nucleotide variant	NM_000161.3(GCH1):c.551G>A (p.Arg184His)	GCH1	Pathogenic	14	55312561	55312561	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120283,UniProtKB:P30793#VAR_002643,OMIM:600225.0020