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_024675.4(PALB2):c.48+1del	PALB2	Likely pathogenic	16	23652430	23652430	AC	A	criteria provided, single submitter	ClinGen:CA16609608
single nucleotide variant	NM_000077.5(CDKN2A):c.458-105A>G	CDKN2A	Pathogenic/Likely pathogenic	9	21968346	21968346	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612773,OMIM:600160.0014
Deletion	NM_000077.5(CDKN2A):c.358del (p.Glu120fs)	CDKN2A	Pathogenic	9	21971000	21971000	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612781
single nucleotide variant	NM_058195.4(CDKN2A):c.193+1G>A	CDKN2A	Pathogenic	9	21994137	21994137	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612794,OMIM:600160.0020
single nucleotide variant	NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)	CDKN2A	Likely pathogenic	9	21971099	21971099	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012197
single nucleotide variant	NM_000077.5(CDKN2A):c.150+2T>C	CDKN2A	Likely pathogenic	9	21974675	21974675	A	G	criteria provided, single submitter	ClinGen:CA16612864
Deletion	NM_000059.3(BRCA2):c.7436-?_7805+?del	BRCA2	Pathogenic	13	32930565	32932066	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.959del (p.Leu320fs)	BRCA2	Pathogenic	13	32906574	32906574	CT	C	reviewed by expert panel	ClinGen:CA16613823
Duplication	NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)	BRCA2	Pathogenic	13	32907404	32907405	G	GA	reviewed by expert panel	ClinGen:CA16613841
Deletion	NM_000059.4(BRCA2):c.2235del (p.Val746fs)	BRCA2	Pathogenic	13	32910724	32910724	CA	C	reviewed by expert panel	ClinGen:CA16613853

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