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
Deletion	NM_000059.4(BRCA2):c.5217_5220del (p.Thr1738_Tyr1739insTer)	BRCA2	Pathogenic	13	32913706	32913709	CTTAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5445&base_change=del TTTA,ClinGen:CA021722
Deletion	NM_000059.4(BRCA2):c.5217_5221del (p.Tyr1739_Ser1741delinsTer)	BRCA2	Pathogenic	13	32913708	32913712	TATTTA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5445&base_change=del TTTAA,ClinGen:CA021726
Deletion	NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)	BRCA2	Pathogenic	13	32913709	32913715	ATTTAAGT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5445&base_change=del TTTAAGT,ClinGen:CA021736
Deletion	NM_000059.4(BRCA2):c.5217_5224delTTTAAGTA	BRCA2	Pathogenic	13	32913707	32913714	TTATTTAAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5445&base_change=del TTTAAGTA,ClinGen:CA021739
Deletion	NM_000059.4(BRCA2):c.5250del (p.Tyr1751fs)	BRCA2	Pathogenic	13	32913741	32913741	TC	T	reviewed by expert panel	ClinGen:CA021855
Deletion	NM_000059.4(BRCA2):c.5254del (p.His1752fs)	BRCA2	Pathogenic	13	32913745	32913745	AC	A	reviewed by expert panel	ClinGen:CA021869
single nucleotide variant	NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter)	BRCA2	Pathogenic	13	32913771	32913771	C	G	reviewed by expert panel	ClinGen:CA021930
single nucleotide variant	NM_000059.4(BRCA2):c.5286T>A (p.Tyr1762Ter)	BRCA2	Pathogenic	13	32913778	32913778	T	A	reviewed by expert panel	ClinGen:CA021955
single nucleotide variant	NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)	BRCA2	Pathogenic	13	32913783	32913783	C	G	reviewed by expert panel	ClinGen:CA021968
single nucleotide variant	NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)	BRCA2	Pathogenic	13	32913836	32913836	C	T	reviewed by expert panel	ClinGen:CA022075