遺伝性乳頭状腎細胞がん - MGenReviews

遺伝性乳頭状腎細胞がん

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_000245.4(MET):c.3392T>C (p.Met1131Thr)	MET	Pathogenic	7	116418881	116418881	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256991,OMIM:164860.0001
single nucleotide variant	NM_000245.4(MET):c.3658G>A (p.Val1220Ile)	MET	Pathogenic/Likely pathogenic	7	116423383	116423383	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256997,OMIM:164860.0003
single nucleotide variant	NM_000245.4(MET):c.3281A>G (p.His1094Arg)	MET	Pathogenic	7	116417464	116417464	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221506,OMIM:164860.0007
single nucleotide variant	NM_000245.4(MET):c.2521T>G (p.Phe841Val)	MET	Pathogenic	7	116403260	116403260	T	G	criteria provided, single submitter	ClinGen:CA212644,UniProtKB:P08581#VAR_075757,OMIM:164860.0012
single nucleotide variant	NM_000245.4(MET):c.3274G>A (p.Val1092Ile)	MET	Pathogenic	7	116417457	116417457	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA193972
single nucleotide variant	NM_000245.4(MET):c.3749T>C (p.Met1250Thr)	MET	Likely pathogenic	7	116423474	116423474	T	C	criteria provided, single submitter	ClinGen:CA16602584

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