リ・フラウメニ症候群 - MGenReviews

リ・フラウメニ症候群

腫瘍性疾患

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_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53	Pathogenic/Likely pathogenic	17	7574017	7574017	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000013,UniProtKB:P04637#VAR_035016,OMIM:191170.0035
single nucleotide variant	NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)	TP53	Pathogenic	17	7578190	7578190	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000314,UniProtKB:P04637#VAR_005959,OMIM:191170.0039
single nucleotide variant	NM_000546.6(TP53):c.854A>T (p.Glu285Val)	TP53	Pathogenic	17	7577084	7577084	T	A	criteria provided, single submitter	UniProtKB:P04637#VAR_006025,OMIM:191170.0040,ClinGen:CA000463
single nucleotide variant	NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)	TP53	Likely pathogenic	17	7573987	7573987	G	T	reviewed by expert panel	ClinGen:CA000022
single nucleotide variant	NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	TP53	Pathogenic	17	7578263	7578263	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000282
single nucleotide variant	NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	TP53	Pathogenic	17	7578212	7578212	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000301
Indel	NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs)	TP53	Pathogenic	17	7579716	7579719	GGAA	ACGTTCTT	criteria provided, single submitter	ClinGen:CA000409
single nucleotide variant	NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	TP53	Pathogenic/Likely pathogenic	17	7577121	7577121	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000432,UniProtKB:P04637#VAR_005993
single nucleotide variant	NM_000546.6(TP53):c.920-2A>G	TP53	Pathogenic/Likely pathogenic	17	7576928	7576928	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000500
single nucleotide variant	NM_000546.6(TP53):c.672G>A (p.Glu224=)	TP53	Pathogenic/Likely pathogenic	17	7578177	7578177	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000328

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