ドーパ反応性ジストニア（瀬川病） - MGenReviews

ドーパ反応性ジストニア（瀬川病）

小児・神経疾患

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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	-
Deletion	NM_000161.3(GCH1):c.220_223del (p.Ala74fs)	GCH1	Pathogenic	14	55369159	55369162	TAGGC	T	criteria provided, single submitter	-

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