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
Insertion	NM_000059.3(BRCA2):c.1189_1190ins4	BRCA2	Pathogenic	13	32906804	32906805	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):1417&base_change=ins 4
Deletion	NM_000059.4(BRCA2):c.1205del (p.Gly402fs)	BRCA2	Pathogenic	13	32906819	32906819	AG	A	reviewed by expert panel	ClinGen:CA011169
Deletion	NM_000059.4(BRCA2):c.1238del (p.Leu413fs)	BRCA2	Pathogenic	13	32906853	32906853	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1466&base_change=del T,ClinGen:CA011280
single nucleotide variant	NM_000059.4(BRCA2):c.1253C>A (p.Ser418Ter)	BRCA2	Pathogenic	13	32906868	32906868	C	A	reviewed by expert panel	ClinGen:CA011334
Deletion	NM_000059.4(BRCA2):c.1257del (p.Cys419fs)	BRCA2	Pathogenic	13	32906872	32906872	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1485&base_change=del T,ClinGen:CA011341
Deletion	NM_000059.4(BRCA2):c.1265del (p.Asn422fs)	BRCA2	Pathogenic	13	32906877	32906877	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1493&base_change=del A,ClinGen:CA011394
Duplication	NM_000059.4(BRCA2):c.1593dup (p.Glu532fs)	BRCA2	Pathogenic	13	32907202	32907203	T	TA	reviewed by expert panel	ClinGen:CA012525
Deletion	NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	BRCA2	Pathogenic	13	32907366	32907370	AAAAAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1983&base_change=del GAAAA,ClinGen:CA013079
Deletion	NM_000059.4(BRCA2):c.1794_1798del	BRCA2	Pathogenic	13	32907409	32907413	CATCTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2024&base_change=del TTTAT,Breast Cancer Information Core (BIC) (BRCA2):2022&base_change=del ATTTT,ClinGen:CA013253
single nucleotide variant	NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)	BRCA2	Pathogenic	13	32907415	32907415	T	A	reviewed by expert panel	ClinGen:CA013314