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.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
single nucleotide variant	NM_000161.3(GCH1):c.142C>T (p.Gln48Ter)	GCH1	Pathogenic	14	55369240	55369240	G	A	criteria provided, single submitter	ClinGen:CA254727,OMIM:600225.0018
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
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
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.159G>A (p.Trp53Ter)	GCH1	Pathogenic	14	55369223	55369223	C	T	criteria provided, single submitter	ClinGen:CA10603246
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.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.510-1G>A	GCH1	Pathogenic	14	55313849	55313849	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA389787520