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
Deletion	NM_007294.4(BRCA1):c.4250del (p.Val1417fs)	BRCA1	Pathogenic	17	41234528	41234528	CA	C	reviewed by expert panel	ClinGen:CA002730
Indel	NM_000059.4(BRCA2):c.476-4_476-1delinsT	BRCA2	Pathogenic/Likely pathogenic	13	32900375	32900378	CCAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020802
Deletion	NM_024675.4(PALB2):c.2205del (p.Ala736fs)	PALB2	Pathogenic	16	23641270	23641270	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA170017
Duplication	NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter)	BRCA2	Pathogenic	13	32914206	32914207	A	AT	reviewed by expert panel	ClinGen:CA170048
single nucleotide variant	NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646759	23646759	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294547
Deletion	NM_024675.4(PALB2):c.156del (p.Glu53fs)	PALB2	Pathogenic	16	23649226	23649226	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294551
single nucleotide variant	NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)	PALB2	Pathogenic	16	23646296	23646296	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294552
single nucleotide variant	NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)	PALB2	Likely pathogenic	16	23641401	23641401	G	A	reviewed by expert panel	ClinGen:CA294556
single nucleotide variant	NM_024675.4(PALB2):c.2834+1G>T	PALB2	Pathogenic/Likely pathogenic	16	23635329	23635329	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294560
Deletion	NM_024675.4(PALB2):c.2888del (p.Ser963fs)	PALB2	Pathogenic	16	23634398	23634398	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294561

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