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.7320del (p.Ala2441fs)	NF1	Pathogenic	17	29676268	29676268	CA	C	criteria provided, single submitter	ClinGen:CA16615293
single nucleotide variant	NM_001042492.3(NF1):c.6147+1G>A	NF1	Pathogenic	17	29663492	29663492	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615294
Deletion	NM_001042492.3(NF1):c.6699del (p.Gln2234fs)	NF1	Pathogenic	17	29664893	29664893	CT	C	criteria provided, single submitter	ClinGen:CA16615307
single nucleotide variant	NM_001042492.3(NF1):c.6921+1G>A	NF1	Pathogenic	17	29665824	29665824	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615312
single nucleotide variant	NM_001042492.3(NF1):c.7107G>A (p.Trp2369Ter)	NF1	Pathogenic	17	29670071	29670071	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615319
Deletion	NM_001042492.3(NF1):c.7373del (p.Arg2458fs)	NF1	Pathogenic	17	29677252	29677252	AG	A	criteria provided, single submitter	ClinGen:CA16615329
single nucleotide variant	NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)	NF1	Pathogenic/Likely pathogenic	17	29684337	29684337	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615330
Deletion	NC_000017.11:g.(?_31094927)_(31182665_?)del	NF1	Pathogenic	17	29421945	29509683	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.730+1G>C	NF1	Pathogenic	17	29508804	29508804	G	C	criteria provided, single submitter	ClinGen:CA16615414
Deletion	NM_001042492.3(NF1):c.924_927del (p.Gly309fs)	NF1	Pathogenic	17	29527473	29527476	TGCTG	T	criteria provided, single submitter	ClinGen:CA16615424

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