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.1219del (p.Gln407fs)	BRCA2	Pathogenic	13	32906832	32906832	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1447&base_change=del C,ClinGen:CA011200
Deletion	NM_000059.4(BRCA2):c.1225del (p.Glu409fs)	BRCA2	Pathogenic	13	32906839	32906839	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1453&base_change=del G,ClinGen:CA011224
Duplication	NM_000059.4(BRCA2):c.1233dup (p.Pro412fs)	BRCA2	Pathogenic	13	32906847	32906848	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1461&base_change=ins A,ClinGen:CA011268
single nucleotide variant	NM_000059.4(BRCA2):c.1241T>A (p.Leu414Ter)	BRCA2	Pathogenic	13	32906856	32906856	T	A	reviewed by expert panel	ClinGen:CA011294
single nucleotide variant	NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter)	BRCA2	Pathogenic	13	32906876	32906876	C	T	reviewed by expert panel	ClinGen:CA011382
Deletion	NM_000059.4(BRCA2):c.1278del (p.Asp427fs)	BRCA2	Pathogenic	13	32906889	32906889	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1506&base_change=del A,ClinGen:CA011433
Deletion	NM_000059.4(BRCA2):c.128del (p.Asn43fs)	BRCA2	Pathogenic	13	32893273	32893273	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):356&base_change=del A,ClinGen:CA011465
Deletion	NM_000059.4(BRCA2):c.1300_1303del (p.Lys434fs)	BRCA2	Pathogenic	13	32906915	32906918	CAAAA	C	reviewed by expert panel	ClinGen:CA011507
Deletion	NM_000059.4(BRCA2):c.1307del (p.Lys436fs)	BRCA2	Pathogenic	13	32906920	32906920	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1535&base_change=del A,ClinGen:CA011531
Deletion	NM_000059.4(BRCA2):c.1310_1311del (p.Lys437fs)	BRCA2	Pathogenic	13	32906924	32906925	GAA	G	reviewed by expert panel	ClinGen:CA011553