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

Excelでダウンロード

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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.517G>A (p.Val173Met)	TP53	Pathogenic	17	7578413	7578413	C	T	reviewed by expert panel	ClinGen:CA10577579,UniProtKB:P04637#VAR_005926
single nucleotide variant	NM_000546.6(TP53):c.1101-1G>A	TP53	Pathogenic/Likely pathogenic	17	7573009	7573009	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580902
single nucleotide variant	NM_000546.6(TP53):c.994-1G>C	TP53	Pathogenic	17	7574034	7574034	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580906
single nucleotide variant	NM_000546.6(TP53):c.976G>T (p.Glu326Ter)	TP53	Pathogenic	17	7576870	7576870	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580908
Deletion	NM_000546.6(TP53):c.902del (p.Pro301fs)	TP53	Pathogenic	17	7577036	7577036	TG	T	criteria provided, single submitter	ClinGen:CA10580913
single nucleotide variant	NM_000546.6(TP53):c.818G>C (p.Arg273Pro)	TP53	Pathogenic	17	7577120	7577120	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580917,UniProtKB:P04637#VAR_045355
single nucleotide variant	NM_000546.6(TP53):c.782+2T>G	TP53	Likely pathogenic	17	7577497	7577497	A	C	criteria provided, single submitter	ClinGen:CA10580920
Indel	NM_000546.6(TP53):c.766_770delinsCAGGTCAGGACATCCA (p.Thr256fs)	TP53	Pathogenic	17	7577511	7577515	AGTGT	TGGATGTCCTGACCTG	criteria provided, single submitter	ClinGen:CA10580922
single nucleotide variant	NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	TP53	Pathogenic	17	7577538	7577538	C	A	reviewed by expert panel	ClinGen:CA10580924,UniProtKB:P04637#VAR_005982
Deletion	NM_000546.6(TP53):c.716_736del (p.Asn239_Gly245del)	TP53	Likely pathogenic	17	7577545	7577565	ATGCCGCCCATGCAGGAACTGT	A	criteria provided, single submitter	ClinGen:CA10580925

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