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
Duplication	NM_000059.4(BRCA2):c.7666_7667dup (p.Asn2556fs)	BRCA2	Pathogenic	13	32931923	32931924	C	CAA	reviewed by expert panel	ClinGen:CA10589445
Insertion	NM_000059.4(BRCA2):c.7668_7669insA (p.Ala2557fs)	BRCA2	Pathogenic	13	32931929	32931930	T	TA	reviewed by expert panel	ClinGen:CA10589446
single nucleotide variant	NM_000059.4(BRCA2):c.7708A>T (p.Lys2570Ter)	BRCA2	Pathogenic	13	32931969	32931969	A	T	reviewed by expert panel	ClinGen:CA10589447
Deletion	NM_000059.4(BRCA2):c.7744del (p.Ala2582fs)	BRCA2	Pathogenic	13	32932004	32932004	TG	T	reviewed by expert panel	ClinGen:CA10589448
Duplication	NM_000059.4(BRCA2):c.7762_7766dup (p.Ser2590fs)	BRCA2	Pathogenic	13	32932021	32932022	T	TCATAC	reviewed by expert panel	ClinGen:CA10589449
Duplication	NM_000059.4(BRCA2):c.7781dup (p.Ala2595fs)	BRCA2	Pathogenic	13	32932039	32932040	G	GA	reviewed by expert panel	ClinGen:CA10589450
single nucleotide variant	NM_000059.4(BRCA2):c.7795G>T (p.Glu2599Ter)	BRCA2	Pathogenic	13	32932056	32932056	G	T	reviewed by expert panel	ClinGen:CA10589451
Deletion	NM_000059.4(BRCA2):c.7861del (p.Tyr2621fs)	BRCA2	Pathogenic	13	32936713	32936713	GT	G	reviewed by expert panel	ClinGen:CA10589453
Duplication	NM_000059.4(BRCA2):c.7865dup (p.Asn2622fs)	BRCA2	Pathogenic	13	32936717	32936718	T	TA	reviewed by expert panel	ClinGen:CA10589454
Duplication	NM_000059.4(BRCA2):c.7878_7881dup (p.Ile2628fs)	BRCA2	Pathogenic	13	32936731	32936732	G	GGATC	reviewed by expert panel	ClinGen:CA10589455