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
single nucleotide variant	NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys)	NF1	Pathogenic/Likely pathogenic	17	29586099	29586099	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398998849
Deletion	NM_001042492.3(NF1):c.2411del (p.Ala804fs)	NF1	Pathogenic	17	29556044	29556044	GC	G	criteria provided, single submitter	ClinGen:CA658656616
Deletion	NM_001042492.3(NF1):c.4967_4968del (p.Thr1656fs)	NF1	Pathogenic	17	29652968	29652969	AAC	A	criteria provided, single submitter	ClinGen:CA658658545
single nucleotide variant	NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter)	NF1	Pathogenic	17	29556955	29556955	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398986319
Duplication	NM_001042492.3(NF1):c.5013_5017dup (p.Asn1673fs)	NF1	Pathogenic	17	29653013	29653014	T	TACGAC	criteria provided, single submitter	ClinGen:CA658658546
single nucleotide variant	NM_001042492.3(NF1):c.5812+5G>A	NF1	Pathogenic	17	29657521	29657521	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658554
Duplication	NM_001042492.3(NF1):c.3484dup (p.Met1162fs)	NF1	Pathogenic	17	29559886	29559887	C	CA	criteria provided, single submitter	ClinGen:CA658656580
Deletion	NM_001042492.3(NF1):c.6667del (p.Cys2223fs)	NF1	Pathogenic	17	29664861	29664861	GT	G	criteria provided, single submitter	ClinGen:CA658658586
single nucleotide variant	NM_001042492.3(NF1):c.6819+1G>A	NF1	Pathogenic	17	29665158	29665158	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399014226
single nucleotide variant	NM_001042492.3(NF1):c.587-2A>G	NF1	Pathogenic/Likely pathogenic	17	29508438	29508438	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989166

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