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
Indel	NM_007294.4(BRCA1):c.2037delinsCC (p.Lys679fs)	BRCA1	Pathogenic	17	41245511	41245511	C	GG	reviewed by expert panel	ClinGen:CA327800
Deletion	NM_007294.4(BRCA1):c.2048del (p.Lys683fs)	BRCA1	Pathogenic	17	41245500	41245500	CT	C	reviewed by expert panel	ClinGen:CA001358
single nucleotide variant	NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter)	BRCA1	Pathogenic	17	41245489	41245489	G	A	reviewed by expert panel	ClinGen:CA001363
Deletion	NM_007294.4(BRCA1):c.2063_2066del (p.Thr688fs)	BRCA1	Pathogenic	17	41245482	41245485	ACTTG	A	reviewed by expert panel	ClinGen:CA001365
Deletion	NM_007294.4(BRCA1):c.2074del (p.His692fs)	BRCA1	Pathogenic	17	41245474	41245474	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2193&base_change=del C,ClinGen:CA001372
Deletion	NM_007294.4(BRCA1):c.2075_2076del (p.His692fs)	BRCA1	Pathogenic	17	41245472	41245473	CAT	C	reviewed by expert panel	ClinGen:CA001373
Deletion	NM_007294.4(BRCA1):c.2079_2080del (p.Asp693fs)	BRCA1	Pathogenic	17	41245468	41245469	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2198&base_change=del CA,ClinGen:CA001378
Deletion	NM_007294.4(BRCA1):c.2086del (p.Thr696fs)	BRCA1	Pathogenic	17	41245462	41245462	GT	G	reviewed by expert panel	ClinGen:CA001386
single nucleotide variant	NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)	BRCA1	Pathogenic	17	41245443	41245443	A	C	reviewed by expert panel	ClinGen:CA001394
Deletion	NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)	BRCA1	Pathogenic	17	41245437	41245438	ATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2229&base_change=del AA,ClinGen:CA001396