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.2133C>A (p.Cys711Ter)	BRCA2	Pathogenic	13	32910625	32910625	C	A	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.2201_2202insAA (p.Ala735fs)	BRCA2	Pathogenic	13	32910693	32910694	T	TAA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.2244_2245insTTCAAAAGTGGAATTCAAAA (p.Ser749fs)	BRCA2	Pathogenic	13	32910736	32910737	C	CTTCAAAAGTGGAATTCAAAA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.2489_2490insT (p.Val831fs)	BRCA2	Pathogenic	13	32910981	32910982	A	AT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.2621_2622insG (p.Val875fs)	BRCA2	Pathogenic	13	32911113	32911114	C	CG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.2757_2758insATGG (p.Pro920fs)	BRCA2	Pathogenic	13	32911249	32911250	A	AATGG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.2832_2833insTT (p.Lys945fs)	BRCA2	Pathogenic	13	32911324	32911325	A	ATT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.2956_2957insG (p.Asn986fs)	BRCA2	Pathogenic	13	32911448	32911449	A	AG	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.3036_3039del (p.Ser1013fs)	BRCA2	Pathogenic	13	32911528	32911531	CTTCA	C	reviewed by expert panel	-
Indel	NM_000059.3(BRCA2):c.3157_3168delinsAG (p.Leu1053fs)	BRCA2	Pathogenic	13	32911649	32911660	TTAGATAATCAA	AG	reviewed by expert panel	-