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	NC_000014.9:g.(?_54902301)_(54902683_?)del	GCH1	Pathogenic	14	55369019	55369401	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	-
single nucleotide variant	NM_000161.3(GCH1):c.1A>T (p.Met1Leu)	GCH1	Pathogenic	14	55369381	55369381	T	A	criteria provided, single submitter	ClinGen:CA389795046
Deletion	NM_000161.3(GCH1):c.13_19del (p.Pro5fs)	GCH1	Likely pathogenic	14	55369363	55369369	CGCACAGG	C	criteria provided, single submitter	ClinGen:CA658658257
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.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.159G>A (p.Trp53Ter)	GCH1	Pathogenic	14	55369223	55369223	C	T	criteria provided, single submitter	ClinGen:CA10603246
Indel	NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs)	GCH1	Pathogenic	14	55369185	55369196	AGCTCGTTATCC	T	criteria provided, single submitter	ClinGen:CA658798217
single nucleotide variant	NM_000161.3(GCH1):c.212T>C (p.Leu71Pro)	GCH1	Likely pathogenic	14	55369170	55369170	A	G	criteria provided, single submitter	-