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.3961del (p.Ser1321fs)	BRCA1	Pathogenic	17	41243587	41243587	GA	G	reviewed by expert panel	ClinGen:CA10589709
Deletion	NM_007294.4(BRCA1):c.3959del (p.Ser1320fs)	BRCA1	Pathogenic	17	41243589	41243589	AG	A	reviewed by expert panel	ClinGen:CA10589710
Deletion	NM_007294.4(BRCA1):c.3952_3955del (p.Ile1318fs)	BRCA1	Pathogenic	17	41243593	41243596	CCAAT	C	reviewed by expert panel	ClinGen:CA10589711
Deletion	NM_007294.4(BRCA1):c.3947_3950del (p.Pro1315_Phe1316insTer)	BRCA1	Pathogenic	17	41243598	41243601	CAAGA	C	reviewed by expert panel	ClinGen:CA10589712
Duplication	NM_007294.4(BRCA1):c.3928dup (p.Thr1310fs)	BRCA1	Pathogenic	17	41243619	41243620	G	GT	reviewed by expert panel	ClinGen:CA10589713
Deletion	NM_007294.4(BRCA1):c.3917del (p.Asp1305_Leu1306insTer)	BRCA1	Pathogenic	17	41243631	41243631	CA	C	reviewed by expert panel	ClinGen:CA10589714
Duplication	NM_007294.4(BRCA1):c.3908_3909dup (p.Glu1304fs)	BRCA1	Pathogenic	17	41243638	41243639	C	CCA	reviewed by expert panel	ClinGen:CA10589715
Indel	NM_007294.4(BRCA1):c.3907_3908delinsGGA (p.Leu1303fs)	BRCA1	Pathogenic	17	41243640	41243641	AA	TCC	reviewed by expert panel	ClinGen:CA10589716
Deletion	NM_007294.4(BRCA1):c.3885del (p.Leu1295fs)	BRCA1	Pathogenic	17	41243663	41243663	AC	A	reviewed by expert panel	ClinGen:CA10589717
single nucleotide variant	NM_007294.4(BRCA1):c.3862G>T (p.Glu1288Ter)	BRCA1	Pathogenic	17	41243686	41243686	C	A	reviewed by expert panel	ClinGen:CA10589718