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
Indel	NM_007294.4(BRCA1):c.2188_2195delinsAAAAAGG (p.Glu730fs)	BRCA1	Pathogenic	17	41245353	41245360	TCTTTTTC	CCTTTTT	reviewed by expert panel	ClinGen:CA10589879
Indel	NM_007294.4(BRCA1):c.2194delinsAA (p.Glu732fs)	BRCA1	Pathogenic	17	41245354	41245354	C	TT	reviewed by expert panel	ClinGen:CA10589880
Deletion	NM_007294.4(BRCA1):c.2193del (p.Glu732fs)	BRCA1	Pathogenic	17	41245355	41245355	CT	C	reviewed by expert panel	ClinGen:CA10589881
Deletion	NM_007294.4(BRCA1):c.2185_2189del (p.Glu729fs)	BRCA1	Pathogenic	17	41245359	41245363	TTCTTC	T	reviewed by expert panel	ClinGen:CA10589882
Insertion	NM_007294.4(BRCA1):c.2161_2162insG (p.Phe721fs)	BRCA1	Pathogenic	17	41245386	41245387	A	AC	reviewed by expert panel	ClinGen:CA10589883
Deletion	NM_007294.4(BRCA1):c.2157_2160del (p.Lys719fs)	BRCA1	Pathogenic	17	41245388	41245391	ATTCT	A	reviewed by expert panel	ClinGen:CA10589884
single nucleotide variant	NM_007294.4(BRCA1):c.2149G>T (p.Glu717Ter)	BRCA1	Pathogenic	17	41245399	41245399	C	A	reviewed by expert panel	ClinGen:CA10589885
Indel	NM_007294.4(BRCA1):c.2142_2144delinsAG (p.Asn714fs)	BRCA1	Pathogenic	17	41245404	41245406	GTA	CT	reviewed by expert panel	ClinGen:CA10589886
Duplication	NM_007294.4(BRCA1):c.2138_2139dup (p.Asn714fs)	BRCA1	Pathogenic	17	41245408	41245409	T	TTG	reviewed by expert panel	ClinGen:CA10589887
Duplication	NM_007294.4(BRCA1):c.2112_2131dup (p.Lys711fs)	BRCA1	Pathogenic	17	41245416	41245417	T	TTAGTAAAAGAACCAGGTGCA	reviewed by expert panel	ClinGen:CA10589889