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_007294.4(BRCA1):c.441+2T>G	BRCA1	Pathogenic	17	41256137	41256137	A	C	reviewed by expert panel	ClinGen:CA10581605
Duplication	NM_007294.4(BRCA1):c.64_65dup (p.Leu22fs)	BRCA1	Pathogenic	17	41276048	41276049	T	TAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):184&base_change=ins TT,ClinGen:CA003777
single nucleotide variant	NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21971098	21971098	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582653,UniProtKB:P42771#VAR_001451
Deletion	NM_000077.5(CDKN2A):c.150+1del	CDKN2A	Likely pathogenic	9	21974676	21974676	AC	A	criteria provided, single submitter	ClinGen:CA10582656
single nucleotide variant	NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974732	21974732	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582657,UniProtKB:P42771#VAR_001416
Deletion	NM_000059.4(BRCA2):c.342_343del (p.His114fs)	BRCA2	Pathogenic	13	32899237	32899238	CAT	C	reviewed by expert panel	ClinGen:CA10583065
single nucleotide variant	NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)	BRCA2	Pathogenic	13	32906804	32906804	C	T	reviewed by expert panel	ClinGen:CA10583071
single nucleotide variant	NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)	BRCA2	Pathogenic	13	32910587	32910587	C	T	reviewed by expert panel	ClinGen:CA10583077
single nucleotide variant	NM_000059.4(BRCA2):c.2239G>T (p.Glu747Ter)	BRCA2	Pathogenic	13	32910731	32910731	G	T	reviewed by expert panel	ClinGen:CA10583079
Deletion	NM_000059.4(BRCA2):c.3349del (p.Ile1117fs)	BRCA2	Pathogenic	13	32911841	32911841	TA	T	reviewed by expert panel	ClinGen:CA10583088

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