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_002878.4(RAD51D):c.442C>T (p.Gln148Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33434045	33434045	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8499475
Deletion	NM_002878.4(RAD51D):c.357_360del (p.Cys119fs)	RAD51D	Pathogenic	17	33434127	33434130	CCATA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580461
Deletion	NM_007294.4(BRCA1):c.5328del (p.Thr1777fs)	BRCA1	Pathogenic	17	41203084	41203084	TG	T	reviewed by expert panel	ClinGen:CA10580487
Deletion	NM_007294.4(BRCA1):c.5236del (p.His1746fs)	BRCA1	Pathogenic	17	41209110	41209110	TG	T	reviewed by expert panel	ClinGen:CA10580492
Deletion	NM_007294.4(BRCA1):c.5202del (p.Phe1734fs)	BRCA1	Pathogenic	17	41209144	41209144	CA	C	reviewed by expert panel	ClinGen:CA10580494
Deletion	NM_007294.4(BRCA1):c.5176del (p.Arg1726fs)	BRCA1	Pathogenic	17	41215367	41215367	CT	C	reviewed by expert panel	ClinGen:CA10580497
single nucleotide variant	NM_007294.4(BRCA1):c.5135G>A (p.Trp1712Ter)	BRCA1	Pathogenic	17	41215908	41215908	C	T	reviewed by expert panel	ClinGen:CA10580498
Duplication	NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter)	BRCA1	Pathogenic	17	41219701	41219702	G	GT	reviewed by expert panel	ClinGen:CA10580503
Deletion	NM_007294.4(BRCA1):c.4654_4673del (p.Tyr1552fs)	BRCA1	Pathogenic	17	41226350	41226369	TAGATCTTGCCTTGGCAAGTA	T	reviewed by expert panel	ClinGen:CA10580512
single nucleotide variant	NM_007294.4(BRCA1):c.4432G>T (p.Glu1478Ter)	BRCA1	Pathogenic	17	41228557	41228557	C	A	reviewed by expert panel	ClinGen:CA10580519