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.2261_2264del (p.Gln754fs)	BRCA2	Pathogenic	13	32910751	32910754	TTCAA	T	criteria provided, single submitter	ClinGen:CA658656369
Deletion	NM_000059.4(BRCA2):c.1393del (p.Val464_Val465insTer)	BRCA2	Pathogenic	13	32907007	32907007	TG	T	criteria provided, single submitter	ClinGen:CA658656333
Duplication	NM_000059.4(BRCA2):c.1536_1537dup (p.Lys513fs)	BRCA2	Pathogenic	13	32907150	32907151	C	CTA	criteria provided, single submitter	ClinGen:CA658656336
Deletion	NM_000059.4(BRCA2):c.1673_1677del (p.Ile558fs)	BRCA2	Pathogenic	13	32907288	32907292	ATTGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656340
single nucleotide variant	NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32911877	32911877	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387776436
Duplication	NM_000059.4(BRCA2):c.3454_3455dup (p.Leu1152fs)	BRCA2	Pathogenic	13	32911945	32911946	C	CTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656410
Deletion	NM_000059.4(BRCA2):c.3811del (p.Ser1271fs)	BRCA2	Pathogenic	13	32912301	32912301	GT	G	criteria provided, single submitter	ClinGen:CA658656322
Duplication	NM_000059.4(BRCA2):c.7dup (p.Ile3fs)	BRCA2	Pathogenic	13	32890603	32890604	T	TA	criteria provided, single submitter	ClinGen:CA658656319
Indel	NM_000059.4(BRCA2):c.32_33delinsA (p.Phe11fs)	BRCA2	Pathogenic	13	32890629	32890630	TT	A	criteria provided, single submitter	ClinGen:CA658656321
single nucleotide variant	NM_000059.4(BRCA2):c.793+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32905168	32905168	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA387760275