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.3010G>T (p.Glu1004Ter)	BRCA1	Pathogenic	17	41244538	41244538	C	A	reviewed by expert panel	ClinGen:CA10589788
Deletion	NM_007294.4(BRCA1):c.3006_3009del (p.Asn1002fs)	BRCA1	Pathogenic	17	41244539	41244542	CAAAG	C	reviewed by expert panel	ClinGen:CA10589789
Deletion	NM_007294.4(BRCA1):c.2981del (p.Cys994fs)	BRCA1	Pathogenic	17	41244567	41244567	AC	A	reviewed by expert panel	ClinGen:CA10589790
single nucleotide variant	NM_007294.4(BRCA1):c.2971A>T (p.Lys991Ter)	BRCA1	Pathogenic	17	41244577	41244577	T	A	reviewed by expert panel	ClinGen:CA10589791
Deletion	NM_007294.4(BRCA1):c.2970del (p.Thr992fs)	BRCA1	Pathogenic	17	41244578	41244578	TA	T	reviewed by expert panel	ClinGen:CA10589792
Duplication	NM_007294.4(BRCA1):c.2960dup (p.Ser988fs)	BRCA1	Pathogenic	17	41244587	41244588	C	CT	reviewed by expert panel	ClinGen:CA10589793
single nucleotide variant	NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter)	BRCA1	Pathogenic	17	41244589	41244589	T	A	reviewed by expert panel	ClinGen:CA10589794
Deletion	NM_007294.4(BRCA1):c.2951_2952del (p.Phe984fs)	BRCA1	Pathogenic	17	41244596	41244597	GAA	G	reviewed by expert panel	ClinGen:CA10589795
Deletion	NM_007294.4(BRCA1):c.2917_2920del (p.Leu973fs)	BRCA1	Pathogenic	17	41244628	41244631	AAAAG	A	reviewed by expert panel	ClinGen:CA10589796
Indel	NM_007294.4(BRCA1):c.2906_2908delinsCT (p.Asn969fs)	BRCA1	Pathogenic	17	41244640	41244642	TAT	AG	reviewed by expert panel	ClinGen:CA10589797