神経線維腫症I型 - MGenReviews

神経線維腫症I型

小児・神経疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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
Duplication	NM_001042492.3(NF1):c.2388dup (p.Ala797fs)	NF1	Pathogenic	17	29554599	29554600	C	CA	criteria provided, single submitter	ClinGen:CA658656614
single nucleotide variant	NM_001042492.3(NF1):c.2409+1G>C	NF1	Pathogenic	17	29554625	29554625	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398983342
Deletion	NM_001042492.3(NF1):c.2674del (p.Ser892fs)	NF1	Pathogenic	17	29556307	29556307	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656623
single nucleotide variant	NM_001042492.3(NF1):c.3367G>T (p.Glu1123Ter)	NF1	Pathogenic	17	29559770	29559770	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989082
Deletion	NM_001042492.3(NF1):c.5594_5595del (p.Ser1864_Ser1865insTer)	NF1	Pathogenic	17	29654841	29654842	TTC	T	criteria provided, single submitter	ClinGen:CA658658553
Deletion	NM_001042492.3(NF1):c.5514_5517del (p.Ile1839fs)	NF1	Pathogenic	17	29654760	29654763	CTCTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658551
Deletion	NM_001042492.3(NF1):c.3778_3782del (p.Met1260fs)	NF1	Pathogenic	17	29562698	29562702	CATGTT	C	criteria provided, single submitter	ClinGen:CA658656594
single nucleotide variant	NM_001042492.3(NF1):c.4339C>A (p.Gln1447Lys)	NF1	Pathogenic	17	29586056	29586056	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398998693
Duplication	NM_001042492.3(NF1):c.6220dup (p.Met2074fs)	NF1	Pathogenic	17	29663724	29663725	T	TA	criteria provided, single submitter	ClinGen:CA658658562
Deletion	NM_001042492.3(NF1):c.6858_6859del (p.Asn2286fs)	NF1	Pathogenic	17	29665759	29665760	AAC	A	criteria provided, single submitter	ClinGen:CA658658592

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