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
Duplication	NM_001042492.3(NF1):c.7577dup (p.Met2526fs)	NF1	Likely pathogenic	17	29679393	29679394	A	AT	criteria provided, single submitter	ClinGen:CA16620376
Deletion	NM_001042492.3(NF1):c.7772del (p.Pro2591fs)	NF1	Pathogenic	17	29684009	29684009	AC	A	criteria provided, single submitter	ClinGen:CA16620377
single nucleotide variant	NM_001042492.3(NF1):c.2T>G (p.Met1Arg)	NF1	Pathogenic	17	29422329	29422329	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398979149
Duplication	NM_001042492.3(NF1):c.1243dup (p.His415fs)	NF1	Pathogenic	17	29528484	29528485	T	TC	criteria provided, single submitter	ClinGen:CA645293899
Deletion	NM_001042492.3(NF1):c.1572del (p.Glu524fs)	NF1	Pathogenic	17	29546066	29546066	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293900
single nucleotide variant	NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser)	NF1	Likely pathogenic	17	29557278	29557278	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398986502
single nucleotide variant	NM_001042492.3(NF1):c.4835+1G>T	NF1	Pathogenic/Likely pathogenic	17	29592358	29592358	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399001394
single nucleotide variant	NM_001042492.3(NF1):c.6921+3A>G	NF1	Pathogenic/Likely pathogenic	17	29665826	29665826	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293901
Deletion	NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)	NF1	Likely pathogenic	17	29676265	29676267	TAGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293902
Deletion	NM_001042492.3(NF1):c.60+2del	NF1	Likely pathogenic	17	29422389	29422389	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369716

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