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_000059.4(BRCA2):c.3478_3481delinsTGAGGA (p.Arg1160_Asp1161delinsTer)	BRCA2	Pathogenic	13	32911970	32911973	AGAG	TGAGGA	reviewed by expert panel	ClinGen:CA16614286
single nucleotide variant	NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter)	BRCA2	Pathogenic	13	32912007	32912007	C	A	reviewed by expert panel	ClinGen:CA16614291
Deletion	NM_000059.4(BRCA2):c.6074_6075del (p.Leu2025fs)	BRCA2	Pathogenic	13	32914565	32914566	GCT	G	reviewed by expert panel	ClinGen:CA16614332
Deletion	NM_000059.4(BRCA2):c.6574del (p.Met2192fs)	BRCA2	Pathogenic	13	32915062	32915062	TA	T	reviewed by expert panel	ClinGen:CA16614340
Indel	NM_000059.3(BRCA2):c.7115_7120delinsGC (p.Ser2372fs)	BRCA2	Pathogenic	13	32929105	32929110	CAAGCA	GC	reviewed by expert panel	ClinGen:CA16614348
Deletion	NC_000017.11:g.(?_35099792)_(35103544_?)del	RAD51D	Pathogenic	17	33426811	33430563	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43044295)_(43045802_?)del	BRCA1	Pathogenic	17	41196312	41197819	na	na	criteria provided, single submitter	-
Duplication	NM_007294.3(BRCA1):c.5075-?_5193+?dup119	BRCA1	Pathogenic	17	41215350	41215968	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43063333)_(43124115_?)del	BRCA1	Pathogenic	17	41215350	41276132	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43047643)_(43124115_?)del	BRCA1	Pathogenic	17	41199660	41276132	na	na	criteria provided, single submitter	-