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.3424del (p.Ala1142fs)	BRCA1	Pathogenic	17	41244124	41244124	GC	G	reviewed by expert panel	ClinGen:CA645509526
single nucleotide variant	NM_007294.4(BRCA1):c.2809A>T (p.Lys937Ter)	BRCA1	Pathogenic	17	41244739	41244739	T	A	reviewed by expert panel	ClinGen:CA10596375
Duplication	NM_007294.4(BRCA1):c.1723dup (p.Glu575fs)	BRCA1	Pathogenic	17	41245824	41245825	T	TC	reviewed by expert panel	ClinGen:CA645509517
Duplication	NM_007294.4(BRCA1):c.1205dup (p.Ser403fs)	BRCA1	Pathogenic	17	41246342	41246343	C	CT	reviewed by expert panel	ClinGen:CA645509518
Deletion	NM_007294.4(BRCA1):c.964_968del (p.Ala322fs)	BRCA1	Pathogenic	17	41246580	41246584	TCCAGC	T	reviewed by expert panel	ClinGen:CA645509520
Deletion	NM_007294.4(BRCA1):c.1110del (p.Pro371fs)	BRCA1	Pathogenic	17	41246438	41246438	GA	G	reviewed by expert panel	ClinGen:CA645509519
Deletion	NC_000013.10:g.(32890665_32893213)_(32893463_32899212)del	BRCA2	Pathogenic	13	32890665	32899212	na	na	criteria provided, single submitter	-
Deletion	NC_000013.10:g.(32937671_32944538)_(32950929_32953453)del	BRCA2	Pathogenic	13	32937671	32953453	na	na	criteria provided, single submitter	-
Deletion	NC_000013.10:g.(32944695_32945092)_(32945238_32950806)del	BRCA2	Pathogenic	13	32944695	32950806	na	na	criteria provided, single submitter	-
Duplication	NC_000013.10:g.(32944695_32945092)_(32945238_32950806)dup	BRCA2	Likely pathogenic	13	32944695	32950806	na	na	criteria provided, single submitter	-