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
Duplication	NM_000059.4(BRCA2):c.3678dup (p.Leu1227fs)	BRCA2	Pathogenic	13	32912166	32912167	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683867
single nucleotide variant	NM_002878.4(RAD51D):c.82+1G>T	RAD51D	Likely pathogenic	17	33446550	33446550	C	A	criteria provided, single submitter	ClinGen:CA399092229
Deletion	NM_000059.4(BRCA2):c.3679_3683del (p.Leu1227fs)	BRCA2	Pathogenic	13	32912169	32912173	AAACTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683868
single nucleotide variant	NM_007294.4(BRCA1):c.5390C>A (p.Ser1797Ter)	BRCA1	Pathogenic	17	41201154	41201154	G	T	criteria provided, single submitter	ClinGen:CA10590695
single nucleotide variant	NM_000059.4(BRCA2):c.4441G>T (p.Glu1481Ter)	BRCA2	Pathogenic	13	32912933	32912933	G	T	criteria provided, single submitter	ClinGen:CA387781338
Deletion	NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)	BRCA2	Pathogenic/Likely pathogenic	13	32929176	32929177	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683838
Deletion	NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer)	BRCA2	Pathogenic	13	32930708	32930708	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683852
Insertion	NM_000059.4(BRCA2):c.8744_8745insCTTA (p.Tyr2916fs)	BRCA2	Pathogenic	13	32950918	32950919	C	CCTTA	criteria provided, single submitter	ClinGen:CA658683846
single nucleotide variant	NM_000059.4(BRCA2):c.9018C>G (p.Tyr3006Ter)	BRCA2	Pathogenic	13	32953951	32953951	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757478
Deletion	NM_007294.4(BRCA1):c.1416del (p.Asn473fs)	BRCA1	Pathogenic	17	41246132	41246132	TG	T	criteria provided, single submitter	ClinGen:CA658684118