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

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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.1299T>A (p.Tyr433Ter)	NF1	Pathogenic	17	29533296	29533296	T	A	criteria provided, single submitter	ClinGen:CA10580218
single nucleotide variant	NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)	NF1	Pathogenic	17	29533315	29533315	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8485754
single nucleotide variant	NM_001042492.3(NF1):c.1528-1G>A	NF1	Likely pathogenic	17	29546022	29546022	G	A	criteria provided, single submitter	ClinGen:CA10580223
Deletion	NM_001042492.3(NF1):c.1584del (p.Leu529fs)	NF1	Pathogenic	17	29546077	29546077	AG	A	criteria provided, single submitter	ClinGen:CA10580228
Deletion	NM_001042492.3(NF1):c.1714del (p.Glu572fs)	NF1	Pathogenic	17	29548938	29548938	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580230
single nucleotide variant	NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)	NF1	Pathogenic/Likely pathogenic	17	29554544	29554544	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580250
single nucleotide variant	NM_001042492.3(NF1):c.2409+2T>G	NF1	Pathogenic	17	29554626	29554626	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580253
Deletion	NM_001042492.3(NF1):c.2589_2592del (p.Ser864fs)	NF1	Pathogenic	17	29556222	29556225	ATAGC	A	criteria provided, single submitter	ClinGen:CA10580259
single nucleotide variant	NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)	NF1	Pathogenic	17	29556889	29556889	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580267
single nucleotide variant	NM_001042492.3(NF1):c.3113+2T>G	NF1	Pathogenic/Likely pathogenic	17	29557402	29557402	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580275

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