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
Deletion	NM_001042492.3(NF1):c.1245del (p.Arg416fs)	NF1	Likely pathogenic	17	29528488	29528488	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1393-1G>C	NF1	Pathogenic/Likely pathogenic	17	29541468	29541468	G	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001042492.3(NF1):c.1413_1414delinsT (p.Lys471fs)	NF1	Likely pathogenic	17	29541489	29541490	AG	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.1490del (p.Val497fs)	NF1	Likely pathogenic	17	29541566	29541566	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1527+2T>C	NF1	Pathogenic/Likely pathogenic	17	29541605	29541605	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter)	NF1	Pathogenic	17	29546035	29546035	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1598T>G (p.Val533Gly)	NF1	Likely pathogenic	17	29546093	29546093	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1607C>A (p.Ser536Ter)	NF1	Pathogenic	17	29546102	29546102	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter)	NF1	Pathogenic/Likely pathogenic	17	29546102	29546102	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1641+2T>C	NF1	Pathogenic/Likely pathogenic	17	29546138	29546138	T	C	criteria provided, multiple submitters, no conflicts	-

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