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.5332G>A (p.Asp1778Asn)	BRCA1	Pathogenic/Likely pathogenic	17	41203080	41203080	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003491
single nucleotide variant	NM_007294.4(BRCA1):c.5333-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41201212	41201212	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003494
single nucleotide variant	NM_007294.4(BRCA1):c.5333-1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41201212	41201212	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5452-1&base_change=G to C,ClinGen:CA003496
single nucleotide variant	NM_007294.4(BRCA1):c.5333-2A>C	BRCA1	Pathogenic	17	41201213	41201213	T	G	criteria provided, single submitter	ClinGen:CA003497
single nucleotide variant	NM_007294.4(BRCA1):c.5333-2A>T	BRCA1	Pathogenic/Likely pathogenic	17	41201213	41201213	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003498
single nucleotide variant	NM_007294.4(BRCA1):c.5333-3T>G	BRCA1	Pathogenic	17	41201214	41201214	A	C	criteria provided, single submitter	ClinGen:CA003499
single nucleotide variant	NM_007294.4(BRCA1):c.5335C>T (p.Gln1779Ter)	BRCA1	Pathogenic	17	41201209	41201209	G	A	reviewed by expert panel	ClinGen:CA003506
single nucleotide variant	NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro)	BRCA1	Pathogenic/Likely pathogenic	17	41201205	41201205	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003508
single nucleotide variant	NM_007294.4(BRCA1):c.5341G>T (p.Glu1781Ter)	BRCA1	Pathogenic	17	41201203	41201203	C	A	reviewed by expert panel	ClinGen:CA003511
Deletion	NM_007294.4(BRCA1):c.5341del (p.Glu1781fs)	BRCA1	Pathogenic	17	41201203	41201203	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5460&base_change=del G,ClinGen:CA003510

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