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.814G>T (p.Glu272Ter)	BRCA1	Pathogenic	17	41246734	41246734	C	A	reviewed by expert panel	ClinGen:CA10589992
Duplication	NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer)	BRCA1	Pathogenic	17	41246759	41246760	A	AC	reviewed by expert panel	ClinGen:CA10589993
Deletion	NM_007294.4(BRCA1):c.784del (p.Gln262fs)	BRCA1	Pathogenic	17	41246764	41246764	TG	T	reviewed by expert panel	ClinGen:CA10589994
Duplication	NM_007294.4(BRCA1):c.778_779dup (p.Tyr261fs)	BRCA1	Pathogenic	17	41246768	41246769	C	CTT	reviewed by expert panel	ClinGen:CA10589995
Insertion	NM_007294.4(BRCA1):c.743_744insA (p.Thr249fs)	BRCA1	Pathogenic	17	41246804	41246805	G	GT	reviewed by expert panel	ClinGen:CA10589997
Insertion	NM_007294.4(BRCA1):c.729_730insGTAACAAATACTGAACATCATCAACCCAGTA (p.Asn244fs)	BRCA1	Pathogenic	17	41246818	41246819	T	TTACTGGGTTGATGATGTTCAGTATTTGTTAC	reviewed by expert panel	ClinGen:CA10589998
single nucleotide variant	NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter)	BRCA1	Pathogenic	17	41246830	41246830	G	A	reviewed by expert panel	ClinGen:CA10589999
Deletion	NM_007294.4(BRCA1):c.707del (p.Thr236fs)	BRCA1	Pathogenic	17	41246841	41246841	AG	A	reviewed by expert panel	ClinGen:CA10590000
Deletion	NM_007294.4(BRCA1):c.704del (p.Asn235fs)	BRCA1	Pathogenic	17	41246844	41246844	AT	A	reviewed by expert panel	ClinGen:CA10590001
Deletion	NM_007294.4(BRCA1):c.689_692del (p.Glu230fs)	BRCA1	Pathogenic	17	41246856	41246859	CGTCT	C	reviewed by expert panel	ClinGen:CA10590002