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.(?_54865307)_(54865456_?)del	GCH1	Pathogenic	14	55332025	55332174	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.344-1G>C	GCH1	Pathogenic	14	55332155	55332155	C	G	criteria provided, single submitter	ClinGen:CA389790329
Duplication	NM_000161.3(GCH1):c.278dup (p.Thr94fs)	GCH1	Pathogenic	14	55369103	55369104	C	CT	criteria provided, single submitter	ClinGen:CA658658256
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
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
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.344-1G>A	GCH1	Pathogenic	14	55332155	55332155	C	T	criteria provided, single submitter	ClinGen:CA389790328
Indel	NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs)	GCH1	Pathogenic	14	55369185	55369196	AGCTCGTTATCC	T	criteria provided, single submitter	ClinGen:CA658798217
Deletion	NM_000161.3(GCH1):c.220_223del (p.Ala74fs)	GCH1	Pathogenic	14	55369159	55369162	TAGGC	T	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	-