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

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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.1391-1G>C	FH	Pathogenic	1	241661271	241661271	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA320963
single nucleotide variant	NM_000143.4(FH):c.1391-2A>T	FH	Pathogenic	1	241661272	241661272	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323468
Insertion	NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)	FH	Pathogenic	1	241663756	241663757	T	TGTGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA322840
single nucleotide variant	NM_000143.4(FH):c.1339A>T (p.Lys447Ter)	FH	Pathogenic	1	241663788	241663788	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA324795
single nucleotide variant	NM_000143.4(FH):c.1327G>T (p.Glu443Ter)	FH	Pathogenic	1	241663800	241663800	C	A	criteria provided, single submitter	-
Deletion	NM_000143.4(FH):c.1263del (p.Arg421fs)	FH	Pathogenic	1	241663864	241663864	GC	G	criteria provided, single submitter	ClinGen:CA320847
single nucleotide variant	NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	FH	Pathogenic/Likely pathogenic	1	241665790	241665790	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325330
single nucleotide variant	NM_000143.4(FH):c.1146G>A (p.Met382Ile)	FH	Likely pathogenic	1	241665833	241665833	C	T	criteria provided, single submitter	ClinGen:CA322667
Deletion	NM_000143.4(FH):c.1139_1142del (p.Met380fs)	FH	Pathogenic	1	241665837	241665840	GGTCA	G	criteria provided, single submitter	ClinGen:CA324536
single nucleotide variant	NM_000143.4(FH):c.1112A>G (p.Lys371Arg)	FH	Likely pathogenic	1	241665867	241665867	T	C	criteria provided, single submitter	-

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