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
Deletion	NM_000161.3(GCH1):c.610del (p.Gly203_Val204insTer)	GCH1	Likely pathogenic	14	55312502	55312502	AC	A	criteria provided, single submitter	ClinGen:CA10588576
Deletion	NM_000161.3(GCH1):c.13_19del (p.Pro5fs)	GCH1	Likely pathogenic	14	55369363	55369369	CGCACAGG	C	criteria provided, single submitter	ClinGen:CA658658257
single nucleotide variant	NM_000161.3(GCH1):c.274C>A (p.Leu92Ile)	GCH1	Likely pathogenic	14	55369108	55369108	G	T	criteria provided, single submitter	ClinGen:CA7193645
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.281C>A (p.Thr94Lys)	GCH1	Likely pathogenic	14	55369101	55369101	G	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.251A>G (p.Glu84Gly)	GCH1	Likely pathogenic	14	55369131	55369131	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.212T>C (p.Leu71Pro)	GCH1	Likely pathogenic	14	55369170	55369170	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.453+1G>C	GCH1	Pathogenic	14	55332044	55332044	C	G	criteria provided, single submitter	OMIM:600225.0009
single nucleotide variant	NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)	GCH1	Pathogenic	14	55369059	55369059	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120279,UniProtKB:P30793#VAR_016894,OMIM:600225.0012