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
single nucleotide variant	NM_000059.4(BRCA2):c.5047C>T (p.Gln1683Ter)	BRCA2	Pathogenic	13	32913539	32913539	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387784014
Deletion	NM_000059.4(BRCA2):c.7252del (p.Arg2418fs)	BRCA2	Pathogenic	13	32929242	32929242	CA	C	criteria provided, single submitter	ClinGen:CA658656415
Indel	NM_000059.3(BRCA2):c.1940_1943delinsTTTA (p.Cys647_Ser648delinsPheTer)	BRCA2	Pathogenic	13	32910432	32910435	GTTC	TTTA	criteria provided, single submitter	ClinGen:CA658656348
Indel	NM_000059.3(BRCA2):c.2098_2117delinsGCA (p.Leu700fs)	BRCA2	Pathogenic	13	32910590	32910609	TTATTTATTACCCCAGAAGC	GCA	criteria provided, single submitter	ClinGen:CA658656356
Deletion	NM_000059.4(BRCA2):c.8271del (p.Glu2757fs)	BRCA2	Pathogenic	13	32937609	32937609	GA	G	criteria provided, single submitter	ClinGen:CA658656355
Deletion	NM_000059.4(BRCA2):c.9254_9256+11del	BRCA2	Likely pathogenic	13	32954278	32954291	AAACAGGTAATGCAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656447
single nucleotide variant	NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32972545	32972545	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387766882
Deletion	NM_000059.4(BRCA2):c.3824_3825del (p.Ile1275fs)	BRCA2	Pathogenic	13	32912315	32912316	GAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656323
Duplication	NM_000059.4(BRCA2):c.4461dup (p.His1488fs)	BRCA2	Pathogenic	13	32912950	32912951	T	TA	criteria provided, single submitter	ClinGen:CA658656342
single nucleotide variant	NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913083	32913083	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387781936