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.251A>G (p.Glu84Gly)	GCH1	Likely pathogenic	14	55369131	55369131	T	C	criteria provided, single submitter	-
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.212T>C (p.Leu71Pro)	GCH1	Likely pathogenic	14	55369170	55369170	A	G	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	-
Deletion	NM_000161.3(GCH1):c.76del (p.Asp26fs)	GCH1	Pathogenic	14	55369306	55369306	TC	T	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	NC_000014.9:g.(?_54865317)_(54865446_?)del	GCH1	Pathogenic	14	55332035	55332164	na	na	criteria provided, single submitter	-
Indel	NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG	GCH1	Pathogenic	14	55326396	55326398	TAC	CTCACA	criteria provided, single submitter	-