遺伝性乳がん・卵巣がん症候群 - MGenReviews

遺伝性乳がん・卵巣がん症候群

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
Indel	NM_000059.3(BRCA2):c.3683delinsGG (p.Asn1228fs)	BRCA2	Pathogenic	13	32912175	32912175	A	GG	reviewed by expert panel	ClinGen:CA645372958
Duplication	NM_000059.4(BRCA2):c.7580dup (p.Gly2528fs)	BRCA2	Pathogenic	13	32930708	32930709	G	GT	reviewed by expert panel	ClinGen:CA645372940
Duplication	NM_000059.4(BRCA2):c.9014_9017dup (p.Tyr3006Ter)	BRCA2	Pathogenic	13	32953945	32953946	G	GAGAT	reviewed by expert panel	ClinGen:CA645372936
Duplication	NM_000059.4(BRCA2):c.9103dup (p.Tyr3035fs)	BRCA2	Pathogenic	13	32954035	32954036	G	GT	reviewed by expert panel	ClinGen:CA645372938
single nucleotide variant	NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe)	BRCA2	Likely pathogenic	13	32968942	32968942	C	T	criteria provided, single submitter	ClinGen:CA387761221
Duplication	NM_007294.3(BRCA1):c.548-?_593+?dup	BRCA1	Pathogenic	17	41249261	41249306	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn)	BRCA1	Likely pathogenic	17	41197730	41197730	A	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.5427dup (p.Val1810fs)	BRCA1	Pathogenic	17	41199699	41199700	C	CA	reviewed by expert panel	ClinGen:CA645373165
single nucleotide variant	NM_007294.4(BRCA1):c.5380G>T (p.Glu1794Ter)	BRCA1	Pathogenic	17	41201164	41201164	C	A	reviewed by expert panel	ClinGen:CA10590712
single nucleotide variant	NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly)	BRCA1	Likely pathogenic	17	41209095	41209095	G	C	criteria provided, single submitter	ClinGen:CA10591045

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