遺伝性平滑筋腫症−腎細胞がん症候群 - MGenReviews

遺伝性平滑筋腫症−腎細胞がん症候群

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
Deletion	NM_000143.4(FH):c.524del (p.Val175fs)	FH	Pathogenic	1	241675298	241675298	CA	C	criteria provided, single submitter	ClinGen:CA16609373
Duplication	NM_000143.4(FH):c.439dup (p.Thr147fs)	FH	Pathogenic	1	241675382	241675383	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609374
Deletion	NM_000143.4(FH):c.395del (p.Lys131_Leu132insTer)	FH	Pathogenic	1	241675427	241675427	TA	T	criteria provided, single submitter	ClinGen:CA16609376
single nucleotide variant	NM_000143.4(FH):c.322C>T (p.Gln108Ter)	FH	Pathogenic/Likely pathogenic	1	241676959	241676959	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609377
Deletion	NM_000143.4(FH):c.267+1_267+10del	FH	Pathogenic	1	241680472	241680481	ATGCCACTTAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609378
Duplication	NM_000143.4(FH):c.239dup (p.Ile81fs)	FH	Pathogenic	1	241680509	241680510	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609379
single nucleotide variant	NM_000143.4(FH):c.157G>T (p.Glu53Ter)	FH	Pathogenic	1	241680592	241680592	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609380
Deletion	NC_000001.11:g.(?_241497557)_(241504245_?)del	FH	Pathogenic	1	241660857	241667545	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_241497557)_(241519785_?)del	FH	Pathogenic	1	241660857	241683085	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.1391-1G>A	FH	Pathogenic	1	241661271	241661271	C	T	criteria provided, single submitter	ClinGen:CA16610035

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