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.4417_4418del (p.Asn1473fs)	BRCA2	Pathogenic	13	32912909	32912910	GAA	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4694del (p.Lys1565fs)	BRCA2	Pathogenic	13	32913184	32913184	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)	BRCA2	Pathogenic	13	32913278	32913278	GA	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4899_4900del (p.Leu1635fs)	BRCA2	Pathogenic	13	32913390	32913391	ATC	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4949del (p.Ser1650fs)	BRCA2	Pathogenic	13	32913441	32913441	AG	A	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.4980_4981dup (p.Tyr1661fs)	BRCA2	Pathogenic	13	32913471	32913472	C	CTT	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.5209_5273dup (p.Asn1758delinsLysIleLeuIleTer)	BRCA2	Pathogenic	13	32913698	32913699	C	CAAGATACTTATTTAAGTAACAGTAGCATGTCTAACAGCTATTCCTACCATTCTGATGAGGTATAT	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.5278dup (p.Ser1760fs)	BRCA2	Pathogenic	13	32913768	32913769	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.5427C>A (p.Cys1809Ter)	BRCA2	Pathogenic	13	32913919	32913919	C	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5547_5548del (p.Lys1850fs)	BRCA2	Pathogenic	13	32914039	32914040	GTA	G	criteria provided, single submitter	-