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

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_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)	PALB2	Pathogenic	16	23625360	23625360	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279530832
single nucleotide variant	NM_000059.4(BRCA2):c.5054C>G (p.Ser1685Ter)	BRCA2	Pathogenic	13	32913546	32913546	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387784027
Deletion	NM_024675.4(PALB2):c.1914del (p.Phe638fs)	PALB2	Pathogenic	16	23641561	23641561	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683932
Duplication	NM_024675.4(PALB2):c.1276dup (p.Glu426fs)	PALB2	Pathogenic	16	23646590	23646591	T	TC	criteria provided, single submitter	ClinGen:CA658683912
Indel	NM_000059.4(BRCA2):c.3165_3167delinsCC (p.Lys1057fs)	BRCA2	Pathogenic	13	32911657	32911659	TCA	CC	criteria provided, single submitter	ClinGen:CA658683858
Deletion	NM_000059.4(BRCA2):c.3452_3455del (p.Ile1151fs)	BRCA2	Pathogenic	13	32911944	32911947	ATCTT	A	criteria provided, single submitter	ClinGen:CA658683864
single nucleotide variant	NM_024675.4(PALB2):c.3350+2C>G	PALB2	Likely pathogenic	16	23619183	23619183	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA395139182
Duplication	NM_000059.4(BRCA2):c.3678dup (p.Leu1227fs)	BRCA2	Pathogenic	13	32912166	32912167	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683867
Deletion	NM_000059.4(BRCA2):c.3679_3683del (p.Leu1227fs)	BRCA2	Pathogenic	13	32912169	32912173	AAACTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683868
single nucleotide variant	NM_007294.4(BRCA1):c.5390C>A (p.Ser1797Ter)	BRCA1	Pathogenic	17	41201154	41201154	G	T	criteria provided, single submitter	ClinGen:CA10590695

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