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.568_569del (p.Thr190fs)	FH	Pathogenic	1	241672072	241672073	AGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795647
Deletion	NM_000143.4(FH):c.1082del (p.Asn361fs)	FH	Pathogenic	1	241667368	241667368	AT	A	criteria provided, single submitter	ClinGen:CA658795652
Duplication	NM_000143.4(FH):c.991dup (p.Thr331fs)	FH	Pathogenic	1	241667458	241667459	G	GT	criteria provided, single submitter	ClinGen:CA658795654
single nucleotide variant	NM_000143.4(FH):c.977G>A (p.Gly326Glu)	FH	Likely pathogenic	1	241667473	241667473	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345438297
single nucleotide variant	NM_000143.4(FH):c.935T>G (p.Phe312Cys)	FH	Likely pathogenic	1	241667515	241667515	A	C	criteria provided, single submitter	ClinGen:CA345438376
Deletion	NM_000143.4(FH):c.919del (p.Thr307fs)	FH	Pathogenic	1	241667531	241667531	GT	G	criteria provided, single submitter	ClinGen:CA658795655
single nucleotide variant	NM_000143.4(FH):c.1236+1G>A	FH	Pathogenic	1	241665742	241665742	C	T	criteria provided, single submitter	ClinGen:CA345437207
Deletion	NM_000143.4(FH):c.1028del (p.Arg343fs)	FH	Pathogenic	1	241667422	241667422	TC	T	criteria provided, single submitter	ClinGen:CA658795653
Duplication	NM_000143.4(FH):c.443dup (p.Thr149fs)	FH	Pathogenic	1	241675378	241675379	C	CT	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_241519585)_(241519728_?)del	FH	Pathogenic	1	241682885	241683028	na	na	criteria provided, single submitter	-

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