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
single nucleotide variant	NM_000059.4(BRCA2):c.1117C>T (p.Gln373Ter)	BRCA2	Pathogenic	13	32906732	32906732	C	T	reviewed by expert panel	ClinGen:CA010847
Deletion	NM_000059.4(BRCA2):c.1128del (p.Phe376fs)	BRCA2	Pathogenic	13	32906741	32906741	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1356&base_change=del T,ClinGen:CA010894
Deletion	NM_000059.4(BRCA2):c.1138del (p.Ser380fs)	BRCA2	Pathogenic	13	32906752	32906752	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1366&base_change=del A,ClinGen:CA010912
Deletion	NM_000059.4(BRCA2):c.1147del (p.Ile383fs)	BRCA2	Pathogenic	13	32906759	32906759	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1375&base_change=del A,ClinGen:CA010948
single nucleotide variant	NM_000059.4(BRCA2):c.1153A>T (p.Lys385Ter)	BRCA2	Pathogenic	13	32906768	32906768	A	T	reviewed by expert panel	ClinGen:CA010988
Deletion	NM_000059.4(BRCA2):c.115del (p.Ala39fs)	BRCA2	Pathogenic	13	32893261	32893261	AG	A	reviewed by expert panel	ClinGen:CA011007
Deletion	NM_000059.4(BRCA2):c.1176_1180del (p.Cys393fs)	BRCA2	Pathogenic	13	32906791	32906795	CCTGTG	C	reviewed by expert panel	ClinGen:CA011042
single nucleotide variant	NM_000059.4(BRCA2):c.1180G>T (p.Glu394Ter)	BRCA2	Pathogenic	13	32906795	32906795	G	T	reviewed by expert panel	ClinGen:CA011059
Insertion	NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs)	BRCA2	Pathogenic	13	32906804	32906805	C	CTTAG	reviewed by expert panel	ClinGen:CA011099
single nucleotide variant	NM_000059.4(BRCA2):c.1202C>G (p.Ser401Ter)	BRCA2	Pathogenic	13	32906817	32906817	C	G	reviewed by expert panel	ClinGen:CA011159