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.2991-2A>C	NF1	Pathogenic/Likely pathogenic	17	29557276	29557276	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3114-1G>A	NF1	Likely pathogenic	17	29557859	29557859	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.3124del (p.Met1041_Val1042insTer)	NF1	Likely pathogenic	17	29557869	29557869	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)	NF1	Likely pathogenic	17	29559144	29559144	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.3288_3294dup (p.Lys1099fs)	NF1	Likely pathogenic	17	29559180	29559181	T	TGGAAGCC	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)	NF1	Pathogenic/Likely pathogenic	17	29559206	29559206	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)	NF1	Pathogenic/Likely pathogenic	17	29559721	29559721	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.3324_3325del (p.Leu1109fs)	NF1	Likely pathogenic	17	29559727	29559728	CAT	C	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.3357del (p.Val1120fs)	NF1	Likely pathogenic	17	29559759	29559759	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)	NF1	Pathogenic/Likely pathogenic	17	29560109	29560109	C	G	criteria provided, multiple submitters, no conflicts	-

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