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
Deletion	NM_007294.4(BRCA1):c.2361del (p.Val788fs)	BRCA1	Pathogenic	17	41245187	41245187	CT	C	reviewed by expert panel	ClinGen:CA10589859
Duplication	NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)	BRCA1	Pathogenic	17	41245201	41245202	T	TA	reviewed by expert panel	ClinGen:CA10589860
Deletion	NM_007294.4(BRCA1):c.2340_2343del (p.Glu781fs)	BRCA1	Pathogenic	17	41245205	41245208	TTTCC	T	reviewed by expert panel	ClinGen:CA10589861
single nucleotide variant	NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter)	BRCA1	Pathogenic	17	41245217	41245217	A	C	reviewed by expert panel	ClinGen:CA10589862
Deletion	NM_007294.4(BRCA1):c.2322del (p.Thr775fs)	BRCA1	Pathogenic	17	41245226	41245226	TA	T	reviewed by expert panel	ClinGen:CA10589863
Deletion	NM_007294.4(BRCA1):c.2314_2315del (p.Val772fs)	BRCA1	Pathogenic	17	41245233	41245234	TAC	T	reviewed by expert panel	ClinGen:CA10589864
Deletion	NM_007294.4(BRCA1):c.2307_2313del (p.Ile769fs)	BRCA1	Pathogenic	17	41245235	41245241	CCAATGAA	C	reviewed by expert panel	ClinGen:CA10589865
Insertion	NM_007294.4(BRCA1):c.2311_2312insC (p.Leu771fs)	BRCA1	Pathogenic	17	41245236	41245237	A	AG	reviewed by expert panel	ClinGen:CA10589866
single nucleotide variant	NM_007294.4(BRCA1):c.2309C>G (p.Ser770Ter)	BRCA1	Pathogenic	17	41245239	41245239	G	C	reviewed by expert panel	ClinGen:CA10589867
Deletion	NM_007294.4(BRCA1):c.2273del (p.Leu758fs)	BRCA1	Pathogenic	17	41245275	41245275	CA	C	reviewed by expert panel	ClinGen:CA10589868