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_000059.4(BRCA2):c.7791del (p.Glu2598fs)	BRCA2	Pathogenic	13	32932049	32932049	GA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8032del (p.Arg2678fs)	BRCA2	Pathogenic	13	32937369	32937369	GA	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8111_8118del (p.Thr2703_Ser2704insTer)	BRCA2	Pathogenic	13	32937449	32937456	TTCTAGCAA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.8931T>G (p.Tyr2977Ter)	BRCA2	Pathogenic	13	32953630	32953630	T	G	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs)	BRCA2	Pathogenic	13	32968896	32968897	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9591del (p.Cys3198fs)	BRCA2	Likely pathogenic	13	32971124	32971124	AC	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9711del (p.Lys3238fs)	BRCA2	Likely pathogenic	13	32972360	32972360	AG	A	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.5021dup (p.Thr1675fs)	BRCA1	Pathogenic	17	41219677	41219678	G	GA	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4885del (p.Glu1629fs)	BRCA1	Pathogenic	17	41223046	41223046	TC	T	criteria provided, single submitter	-
Insertion	NM_007294.4(BRCA1):c.3307_3308insC (p.Cys1103fs)	BRCA1	Pathogenic	17	41244240	41244241	C	CG	criteria provided, multiple submitters, no conflicts	-