家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

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_000059.4(BRCA2):c.5966C>G (p.Ser1989Ter)	BRCA2	Pathogenic	13	32914458	32914458	C	G	reviewed by expert panel	ClinGen:CA10589339
Duplication	NM_000059.4(BRCA2):c.5966dup (p.Asp1990fs)	BRCA2	Pathogenic	13	32914457	32914458	T	TC	reviewed by expert panel	ClinGen:CA10589340
single nucleotide variant	NM_000059.4(BRCA2):c.5975C>G (p.Ser1992Ter)	BRCA2	Pathogenic	13	32914467	32914467	C	G	reviewed by expert panel	ClinGen:CA10589341
Insertion	NM_000059.4(BRCA2):c.5985_5986insA (p.Ala1996fs)	BRCA2	Pathogenic	13	32914477	32914478	C	CA	reviewed by expert panel	ClinGen:CA10589342
Deletion	NM_000059.4(BRCA2):c.5994del (p.Val1999fs)	BRCA2	Pathogenic	13	32914485	32914485	CA	C	reviewed by expert panel	ClinGen:CA10589343
Deletion	NM_000059.4(BRCA2):c.6010_6014del (p.Ile2003_Glu2004insTer)	BRCA2	Pathogenic	13	32914501	32914505	TAGAAG	T	reviewed by expert panel	ClinGen:CA10589344
Deletion	NM_000059.4(BRCA2):c.6012_6016del (p.Asp2005fs)	BRCA2	Pathogenic	13	32914503	32914507	GAAGAT	G	reviewed by expert panel	ClinGen:CA10589345
Deletion	NM_000059.4(BRCA2):c.6016_6019del (p.Ser2006fs)	BRCA2	Pathogenic	13	32914508	32914511	TAGTA	T	reviewed by expert panel	ClinGen:CA10589346
Deletion	NM_000059.4(BRCA2):c.6048del (p.Phe2016fs)	BRCA2	Pathogenic	13	32914538	32914538	GT	G	reviewed by expert panel	ClinGen:CA10589347
single nucleotide variant	NM_000059.4(BRCA2):c.6049A>T (p.Lys2017Ter)	BRCA2	Pathogenic	13	32914541	32914541	A	T	reviewed by expert panel	ClinGen:CA10589348