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

1
...
79
80
81
82
83
...
123

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
Deletion	NM_001042492.3(NF1):c.3686del (p.Asn1229fs)	NF1	Pathogenic	17	29560208	29560208	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3708+3A>T	NF1	Likely pathogenic	17	29560234	29560234	A	T	criteria provided, single submitter	-
Insertion	NM_001042492.3(NF1):c.3787_3788insT (p.Lys1263fs)	NF1	Likely pathogenic	17	29562707	29562708	A	AT	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.3791_3801del (p.Glu1264fs)	NF1	Likely pathogenic	17	29562710	29562720	AGAAGTAGAATT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3864T>A (p.Cys1288Ter)	NF1	Likely pathogenic	17	29562784	29562784	T	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.3911del (p.Leu1304fs)	NF1	Pathogenic	17	29562974	29562974	CT	C	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_001042492.3(NF1):c.4076_4077insA (p.Gln1360fs)	NF1	Likely pathogenic	17	29576103	29576104	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)	NF1	Pathogenic/Likely pathogenic	17	29585371	29585371	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)	NF1	Pathogenic/Likely pathogenic	17	29585419	29585419	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter)	NF1	Pathogenic	17	29585494	29585494	G	T	criteria provided, multiple submitters, no conflicts	-

1
...
79
80
81
82
83
...
123