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	NM_000161.3(GCH1):c.220_223del (p.Ala74fs)	GCH1	Pathogenic	14	55369159	55369162	TAGGC	T	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.251A>G (p.Glu84Gly)	GCH1	Likely pathogenic	14	55369131	55369131	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.274C>A (p.Leu92Ile)	GCH1	Likely pathogenic	14	55369108	55369108	G	T	criteria provided, single submitter	ClinGen:CA7193645
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.281C>A (p.Thr94Lys)	GCH1	Likely pathogenic	14	55369101	55369101	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)	GCH1	Pathogenic	14	55369059	55369059	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120279,UniProtKB:P30793#VAR_016894,OMIM:600225.0012
Deletion	NC_000014.9:g.(?_54865307)_(54865456_?)del	GCH1	Pathogenic	14	55332025	55332174	na	na	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.344-1G>A	GCH1	Pathogenic	14	55332155	55332155	C	T	criteria provided, single submitter	ClinGen:CA389790328