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.3496G>A (p.Gly1166Ser)	NF1	Pathogenic/Likely pathogenic	17	29559899	29559899	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser)	NF1	Pathogenic/Likely pathogenic	17	29560091	29560091	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3716T>G (p.Leu1239Arg)	NF1	Likely pathogenic	17	29562636	29562636	T	G	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.3732_3742del (p.Thr1245fs)	NF1	Pathogenic	17	29562652	29562662	TTACTCTGTTTG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg)	NF1	Likely pathogenic	17	29562692	29562692	T	C	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4062del (p.Ser1355fs)	NF1	Pathogenic	17	29576088	29576088	TC	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4068_4069del (p.Glu1356fs)	NF1	Pathogenic	17	29576095	29576096	AAT	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4108del (p.Gln1370fs)	NF1	Pathogenic	17	29576134	29576134	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4236A>C (p.Arg1412Ser)	NF1	Likely pathogenic	17	29585424	29585424	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4339C>G (p.Gln1447Glu)	NF1	Pathogenic	17	29586056	29586056	C	G	criteria provided, multiple submitters, no conflicts	-

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