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.6820-1G>C	NF1	Pathogenic	17	29665721	29665721	G	C	criteria provided, single submitter	ClinGen:CA16615676
single nucleotide variant	NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter)	NF1	Pathogenic	17	29667616	29667616	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615680
single nucleotide variant	NM_001042492.3(NF1):c.7190-2A>G	NF1	Pathogenic	17	29676136	29676136	A	G	criteria provided, single submitter	ClinGen:CA16615688
Deletion	NM_001042492.3(NF1):c.660_665del (p.Asn222_Trp223del)	NF1	Likely pathogenic	17	29508733	29508738	TTTGGAA	T	criteria provided, single submitter	ClinGen:CA16620354
single nucleotide variant	NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)	NF1	Pathogenic	17	29509596	29509596	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620355
single nucleotide variant	NM_001042492.3(NF1):c.1527+2T>G	NF1	Pathogenic	17	29541605	29541605	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620357
single nucleotide variant	NM_001042492.3(NF1):c.1658A>G (p.His553Arg)	NF1	Pathogenic/Likely pathogenic	17	29548884	29548884	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620358
Indel	NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs)	NF1	Pathogenic	17	29553485	29553485	G	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620360
single nucleotide variant	NM_001042492.3(NF1):c.2545G>T (p.Gly849Ter)	NF1	Pathogenic	17	29556178	29556178	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620361
Deletion	NM_001042492.3(NF1):c.2791_2800del (p.Pro931fs)	NF1	Likely pathogenic	17	29556421	29556430	GTATCCAATGC	G	criteria provided, single submitter	ClinGen:CA16620363

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