遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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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.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
Deletion	NM_000059.4(BRCA2):c.6052_6053del (p.Lys2017_Ser2018insTer)	BRCA2	Pathogenic	13	32914544	32914545	AAG	A	reviewed by expert panel	ClinGen:CA10589349
Deletion	NM_000059.4(BRCA2):c.6067_6076del (p.Asp2023fs)	BRCA2	Pathogenic	13	32914556	32914565	TTCAGACCAGC	T	reviewed by expert panel	ClinGen:CA10589350
Duplication	NM_000059.4(BRCA2):c.6081dupA	BRCA2	Pathogenic	13	32914572	32914573	G	GA	reviewed by expert panel	ClinGen:CA10589351
Deletion	NM_000059.4(BRCA2):c.6085_6089del (p.Glu2029fs)	BRCA2	Pathogenic	13	32914575	32914579	GAAGAA	G	reviewed by expert panel	ClinGen:CA10589353