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	NC_000017.11:g.(?_43047637)_(43099886_?)del	BRCA1	Pathogenic	17	41199654	41251903	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43106450)_(43106539_?)del	BRCA1	Likely pathogenic	17	41258467	41258556	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58720740)_(58724106_?)del	RAD51C	Pathogenic	17	56798101	56801467	na	na	criteria provided, single submitter	-
Indel	NM_002878.4(RAD51D):c.144+1_144+11delinsCC	RAD51D	Likely pathogenic	17	33446119	33446129	CAGGAGCTCAC	GG	criteria provided, single submitter	ClinGen:CA658658614
Indel	NM_007294.4(BRCA1):c.5365_5366delinsA (p.Ala1789fs)	BRCA1	Pathogenic	17	41201178	41201179	GC	T	criteria provided, single submitter	ClinGen:CA658656643
single nucleotide variant	NM_007294.4(BRCA1):c.5277+1G>T	BRCA1	Pathogenic	17	41209068	41209068	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590997
Indel	NM_007294.4(BRCA1):c.5194-1_5197delinsTATT	BRCA1	Pathogenic	17	41209149	41209153	CATGC	AATA	criteria provided, single submitter	ClinGen:CA658656666
Deletion	NM_007294.4(BRCA1):c.3825del (p.Leu1276fs)	BRCA1	Pathogenic	17	41243723	41243723	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656677
Insertion	NM_007294.4(BRCA1):c.3543_3544insGA (p.Gln1182fs)	BRCA1	Pathogenic	17	41244004	41244005	G	GTC	criteria provided, single submitter	ClinGen:CA658656689
Deletion	NM_007294.4(BRCA1):c.3401_3405del (p.Glu1134fs)	BRCA1	Pathogenic	17	41244143	41244147	GCTGTT	G	criteria provided, single submitter	ClinGen:CA658656692