家族性膵がん - MGenReviews

家族性膵がん

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_000077.5(CDKN2A):c.151-2A>G	CDKN2A	Pathogenic/Likely pathogenic	9	21971209	21971209	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086464
Duplication	NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974696	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012308
Deletion	NM_000059.4(BRCA2):c.217del (p.Gln73fs)	BRCA2	Pathogenic	13	32893363	32893363	TC	T	criteria provided, single submitter	ClinGen:CA658656334
Deletion	NM_000059.4(BRCA2):c.831del (p.Asn277fs)	BRCA2	Pathogenic/Likely pathogenic	13	32906446	32906446	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656374
Deletion	NM_000059.4(BRCA2):c.428del (p.Pro143fs)	BRCA2	Pathogenic	13	32900239	32900239	TC	T	criteria provided, single submitter	ClinGen:CA658656341
single nucleotide variant	NM_000059.4(BRCA2):c.473C>G (p.Ser158Ter)	BRCA2	Pathogenic	13	32900285	32900285	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757253
Deletion	NM_000059.4(BRCA2):c.2261_2264del (p.Gln754fs)	BRCA2	Pathogenic	13	32910751	32910754	TTCAA	T	criteria provided, single submitter	ClinGen:CA658656369
Deletion	NM_000059.4(BRCA2):c.1393del (p.Val464_Val465insTer)	BRCA2	Pathogenic	13	32907007	32907007	TG	T	criteria provided, single submitter	ClinGen:CA658656333
Duplication	NM_000059.4(BRCA2):c.1536_1537dup (p.Lys513fs)	BRCA2	Pathogenic	13	32907150	32907151	C	CTA	criteria provided, single submitter	ClinGen:CA658656336
Deletion	NM_000059.4(BRCA2):c.1673_1677del (p.Ile558fs)	BRCA2	Pathogenic	13	32907288	32907292	ATTGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656340

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