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.344-1G>C	GCH1	Pathogenic	14	55332155	55332155	C	G	criteria provided, single submitter	ClinGen:CA389790329
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
Indel	NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG	GCH1	Pathogenic	14	55326396	55326398	TAC	CTCACA	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.510-1G>C	GCH1	Pathogenic	14	55313849	55313849	C	G	criteria provided, single submitter	ClinGen:CA389787519
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
single nucleotide variant	NM_000161.3(GCH1):c.532A>T (p.Arg178Ter)	GCH1	Pathogenic	14	55313826	55313826	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.541+1G>T	GCH1	Pathogenic	14	55313816	55313816	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA389787439
single nucleotide variant	NM_000161.3(GCH1):c.541+1G>C	GCH1	Pathogenic	14	55313816	55313816	C	G	criteria provided, single submitter	ClinGen:CA389787441
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
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