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
Duplication	NM_000161.3(GCH1):c.248dup (p.Glu84fs)	GCH1	Pathogenic/Likely pathogenic	14	55369133	55369134	G	GC	criteria provided, multiple submitters, no conflicts	-
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.626+1G>A	GCH1	Pathogenic/Likely pathogenic	14	55312485	55312485	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA389787258,OMIM:600225.0019
Indel	NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG	GCH1	Pathogenic	14	55326396	55326398	TAC	CTCACA	criteria provided, single submitter	-
Deletion	NC_000014.9:g.(?_54865317)_(54865446_?)del	GCH1	Pathogenic	14	55332035	55332164	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.1A>G (p.Met1Val)	GCH1	Pathogenic	14	55369381	55369381	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000161.3(GCH1):c.76del (p.Asp26fs)	GCH1	Pathogenic	14	55369306	55369306	TC	T	criteria provided, single submitter	-
Duplication	NM_000161.3(GCH1):c.127_130dup (p.Ala44fs)	GCH1	Pathogenic	14	55369251	55369252	G	GCCTC	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	-
Deletion	NM_000161.3(GCH1):c.220_223del (p.Ala74fs)	GCH1	Pathogenic	14	55369159	55369162	TAGGC	T	criteria provided, single submitter	-