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
Indel	NM_000059.4(BRCA2):c.5807_5816delinsGTC (p.Met1936fs)	BRCA2	Pathogenic	13	32914299	32914308	TGTCTGGATT	GTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656404
single nucleotide variant	NM_000059.4(BRCA2):c.6484A>T (p.Lys2162Ter)	BRCA2	Pathogenic	13	32914976	32914976	A	T	criteria provided, single submitter	ClinGen:CA387789461
single nucleotide variant	NM_000059.4(BRCA2):c.7435+2T>C	BRCA2	Likely pathogenic	13	32929427	32929427	T	C	criteria provided, single submitter	ClinGen:CA387742153
Indel	NM_000059.4(BRCA2):c.7626_7637delinsT (p.Thr2542_Tyr2543insTer)	BRCA2	Pathogenic	13	32931887	32931898	GTATGGCGTTTC	T	criteria provided, single submitter	ClinGen:CA658656451
Duplication	NM_000059.4(BRCA2):c.7985dup (p.Glu2663fs)	BRCA2	Pathogenic/Likely pathogenic	13	32937323	32937324	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656343
Indel	NM_000059.4(BRCA2):c.8488-1_8496delinsCT	BRCA2	Likely pathogenic	13	32945092	32945101	GTGGATGGAG	CT	criteria provided, single submitter	ClinGen:CA658656379
Deletion	NM_000059.4(BRCA2):c.8818_8824del (p.Lys2940fs)	BRCA2	Pathogenic	13	32953514	32953520	TAAGAAAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656401
single nucleotide variant	NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33430485	33430485	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8499397
single nucleotide variant	NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33430491	33430491	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8499398
single nucleotide variant	NM_002878.4(RAD51D):c.346-1G>C	RAD51D	Pathogenic/Likely pathogenic	17	33434142	33434142	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399089412