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_007294.4(BRCA1):c.4216A>T (p.Lys1406Ter)	BRCA1	Pathogenic	17	41234562	41234562	T	A	reviewed by expert panel	ClinGen:CA10589679
Deletion	NM_007294.4(BRCA1):c.4206_4207del (p.His1402fs)	BRCA1	Pathogenic	17	41234571	41234572	TTA	T	reviewed by expert panel	ClinGen:CA10589680
Deletion	NM_007294.4(BRCA1):c.4205del (p.His1402fs)	BRCA1	Pathogenic	17	41234573	41234573	AT	A	reviewed by expert panel	ClinGen:CA10589681
Deletion	NM_007294.4(BRCA1):c.4197del (p.Met1400fs)	BRCA1	Pathogenic	17	41234581	41234581	TG	T	reviewed by expert panel	ClinGen:CA10589682
Deletion	NM_007294.4(BRCA1):c.4175del (p.Ile1391_Leu1392insTer)	BRCA1	Pathogenic	17	41242971	41242971	TA	T	reviewed by expert panel	ClinGen:CA10589683
Deletion	NM_007294.4(BRCA1):c.4162_4163del (p.Gln1388fs)	BRCA1	Pathogenic	17	41242983	41242984	CTG	C	reviewed by expert panel	ClinGen:CA10589684
Duplication	NM_007294.4(BRCA1):c.4146_4155dup (p.Ser1386fs)	BRCA1	Pathogenic	17	41242990	41242991	A	ATAGCCCTGAG	reviewed by expert panel	ClinGen:CA10589685
Deletion	NM_007294.4(BRCA1):c.4137_4138del (p.Glu1380fs)	BRCA1	Pathogenic	17	41243008	41243009	TCA	T	reviewed by expert panel	ClinGen:CA10589686
Deletion	NM_007294.4(BRCA1):c.4126_4129del (p.Thr1376fs)	BRCA1	Pathogenic	17	41243017	41243020	CTTGT	C	reviewed by expert panel	ClinGen:CA10589687
Deletion	NM_007294.4(BRCA1):c.4129del (p.Ser1377fs)	BRCA1	Pathogenic	17	41243017	41243017	CT	C	reviewed by expert panel	ClinGen:CA10589688