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.869del (p.Leu290fs)	BRCA1	Pathogenic	17	41246679	41246679	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9693del (p.Leu3232fs)	BRCA2	Pathogenic	13	32972343	32972343	CA	C	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.5172dup (p.Glu1725fs)	BRCA1	Pathogenic	17	41215370	41215371	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.4484+2T>C	BRCA1	Pathogenic	17	41228503	41228503	A	G	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.3059del (p.Pro1020fs)	BRCA1	Pathogenic	17	41244489	41244489	TG	T	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.3621del (p.Lys1208fs)	BRCA1	Pathogenic	17	41243927	41243927	TC	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del)	BRCA2	Likely pathogenic	13	32893227	32893292	TAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGA	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.6256_6259del (p.Ile2086fs)	BRCA2	Pathogenic	13	32914747	32914750	TAATC	T	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.7068dup (p.Leu2357fs)	BRCA2	Pathogenic	13	32929055	32929056	A	AT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5879del (p.Cys1960fs)	BRCA2	Pathogenic	13	32914371	32914371	TG	T	criteria provided, single submitter	-