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
single nucleotide variant	NM_000143.4(FH):c.521C>A (p.Pro174His)	FH	Likely pathogenic	1	241675301	241675301	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.442C>T (p.Gln148Ter)	FH	Pathogenic	1	241675380	241675380	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.1435G>T (p.Gly479Ter)	FH	Pathogenic	1	241661226	241661226	C	A	criteria provided, single submitter	-
Duplication	NM_000143.4(FH):c.1328_1331dup (p.Ile445fs)	FH	Pathogenic	1	241663795	241663796	C	CCTTT	criteria provided, single submitter	-
Deletion	NM_000143.4(FH):c.1165_1174del (p.Gly389fs)	FH	Pathogenic	1	241665805	241665814	ACATGGTTCCC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.944T>C (p.Leu315Pro)	FH	Likely pathogenic	1	241667506	241667506	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.844G>C (p.Gly282Arg)	FH	Likely pathogenic	1	241669363	241669363	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.705T>G (p.His235Gln)	FH	Likely pathogenic	1	241671936	241671936	A	C	criteria provided, single submitter	-
Indel	NM_000143.4(FH):c.564_587delinsG (p.Asn188fs)	FH	Pathogenic	1	241672054	241672077	TGCATTGCTGTGGGAAAAGTATCA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.424C>T (p.Gln142Ter)	FH	Pathogenic	1	241675398	241675398	G	A	criteria provided, single submitter	-

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