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_000059.4(BRCA2):c.5665del (p.Ile1889fs)	BRCA2	Pathogenic	13	32914154	32914154	GA	G	reviewed by expert panel	ClinGen:CA022906
single nucleotide variant	NM_000059.4(BRCA2):c.5699C>A (p.Ser1900Ter)	BRCA2	Pathogenic	13	32914191	32914191	C	A	reviewed by expert panel	ClinGen:CA023001
Deletion	NM_000059.4(BRCA2):c.5717_5718del (p.Asn1906fs)	BRCA2	Pathogenic	13	32914209	32914210	AAC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5945&base_change=del AC,ClinGen:CA023037
Deletion	NM_000059.4(BRCA2):c.5724del (p.Asp1909fs)	BRCA2	Pathogenic	13	32914216	32914216	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5952&base_change=del A,ClinGen:CA023054
Indel	NM_000059.4(BRCA2):c.572delinsCT (p.Asp191fs)	BRCA2	Pathogenic	13	32900691	32900691	A	CT	reviewed by expert panel	ClinGen:CA325901
single nucleotide variant	NM_000059.4(BRCA2):c.5734G>T (p.Glu1912Ter)	BRCA2	Pathogenic	13	32914226	32914226	G	T	reviewed by expert panel	ClinGen:CA023098
single nucleotide variant	NM_000059.4(BRCA2):c.5739T>A (p.Cys1913Ter)	BRCA2	Pathogenic	13	32914231	32914231	T	A	reviewed by expert panel	ClinGen:CA023111
Duplication	NM_000059.4(BRCA2):c.574dup (p.Met192fs)	BRCA2	Pathogenic	13	32900692	32900693	T	TA	reviewed by expert panel	ClinGen:CA023141
Deletion	NM_000059.4(BRCA2):c.5754_5755del (p.His1918fs)	BRCA2	Pathogenic	13	32914245	32914246	CAT	C	reviewed by expert panel	ClinGen:CA023161
Duplication	NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs)	BRCA2	Pathogenic	13	32914250	32914251	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5991&base_change=ins T,ClinGen:CA023171

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