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.1287del (p.Ile429fs)	BRCA1	Pathogenic	17	41246261	41246261	CT	C	reviewed by expert panel	ClinGen:CA16616889
Deletion	NM_007294.4(BRCA1):c.510del (p.Ile171fs)	BRCA1	Pathogenic	17	41251829	41251829	TC	T	reviewed by expert panel	ClinGen:CA16616890
Insertion	NM_007294.3(BRCA1):c.457_458ins21 (p.?)	BRCA1	Pathogenic	17	41251881	41251882	na	na	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.445G>T (p.Glu149Ter)	BRCA1	Pathogenic	17	41251894	41251894	C	A	reviewed by expert panel	ClinGen:CA10601244
single nucleotide variant	NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser)	CDKN2A	Likely pathogenic	9	21971146	21971146	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012207
single nucleotide variant	NM_000077.5(CDKN2A):c.151-1G>T	CDKN2A	Pathogenic/Likely pathogenic	9	21971208	21971208	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618833
single nucleotide variant	NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)	CDKN2A	Pathogenic/Likely pathogenic	9	21974759	21974759	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618835
Deletion	NM_000059.4(BRCA2):c.-39-1_-39del	BRCA2	Likely pathogenic	13	32890557	32890558	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6940297
Deletion	NM_000059.4(BRCA2):c.15del (p.Glu7fs)	BRCA2	Pathogenic	13	32890611	32890611	TC	T	reviewed by expert panel	ClinGen:CA16619631
Duplication	NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)	BRCA2	Pathogenic	13	32893268	32893269	C	CCTATAATT	reviewed by expert panel	ClinGen:CA16619636

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