遺伝性乳がん・卵巣がん症候群

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
Deletion	NM_007294.4(BRCA1):c.4392del (p.Pro1464_Ile1465insTer)	BRCA1	Pathogenic	17	41228597	41228597	TA	T	reviewed by expert panel	ClinGen:CA16620425
Deletion	NM_007294.4(BRCA1):c.4137del (p.Glu1380fs)	BRCA1	Pathogenic	17	41243009	41243009	CA	C	reviewed by expert panel	ClinGen:CA16620426
Deletion	NM_007294.4(BRCA1):c.3526del (p.Val1176fs)	BRCA1	Pathogenic	17	41244022	41244022	AC	A	reviewed by expert panel	ClinGen:CA10654941
Deletion	NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs)	BRCA1	Pathogenic	17	41244407	41244410	CTACT	C	reviewed by expert panel	ClinGen:CA16620429
Duplication	NM_007294.4(BRCA1):c.3091dup (p.Ile1031fs)	BRCA1	Pathogenic	17	41244456	41244457	A	AT	reviewed by expert panel	ClinGen:CA16620431
Deletion	NM_007294.4(BRCA1):c.2783del (p.Gly928fs)	BRCA1	Pathogenic	17	41244765	41244765	GC	G	reviewed by expert panel	ClinGen:CA16620433
Deletion	NM_007294.4(BRCA1):c.2760del (p.Gln921fs)	BRCA1	Pathogenic	17	41244788	41244788	GT	G	reviewed by expert panel	ClinGen:CA16620434
Insertion	NM_007294.4(BRCA1):c.2754_2755insGGGTG (p.Pro919fs)	BRCA1	Pathogenic	17	41244793	41244794	G	GCACCC	criteria provided, single submitter	ClinGen:CA16620435
Deletion	NM_007294.4(BRCA1):c.2707del (p.Cys903fs)	BRCA1	Pathogenic	17	41244841	41244841	CA	C	reviewed by expert panel	ClinGen:CA16620436
Deletion	NM_007294.4(BRCA1):c.2467del (p.Arg823fs)	BRCA1	Pathogenic	17	41245081	41245081	CT	C	reviewed by expert panel	ClinGen:CA16620438