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.3919del (p.Glu1307fs)	BRCA2	Pathogenic	13	32912411	32912411	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4147&base_change=del G,ClinGen:CA019184
Deletion	NM_000059.4(BRCA2):c.3929del (p.Thr1310fs)	BRCA2	Pathogenic	13	32912421	32912421	AC	A	reviewed by expert panel	ClinGen:CA019210
Deletion	NM_000059.4(BRCA2):c.3936_3954del (p.Asn1312fs)	BRCA2	Pathogenic	13	32912426	32912444	AAATTACAAGAGAAATACTG	A	reviewed by expert panel	ClinGen:CA019222
single nucleotide variant	NM_000059.4(BRCA2):c.3939C>A (p.Tyr1313Ter)	BRCA2	Pathogenic	13	32912431	32912431	C	A	reviewed by expert panel	ClinGen:CA019241
Deletion	NM_000059.4(BRCA2):c.3939del (p.Asn1312_Tyr1313insTer)	BRCA2	Pathogenic	13	32912431	32912431	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4167&base_change=del C,ClinGen:CA019249
single nucleotide variant	NM_000059.4(BRCA2):c.3958G>T (p.Glu1320Ter)	BRCA2	Pathogenic	13	32912450	32912450	G	T	reviewed by expert panel	ClinGen:CA019267
single nucleotide variant	NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)	BRCA2	Pathogenic	13	32912459	32912459	A	T	reviewed by expert panel	ClinGen:CA019306
Duplication	NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)	BRCA2	Pathogenic	13	32912466	32912467	C	CTGCT	reviewed by expert panel	ClinGen:CA019317
single nucleotide variant	NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)	BRCA2	Pathogenic	13	32890600	32890600	G	A	reviewed by expert panel	ClinGen:CA019362
single nucleotide variant	NM_000059.4(BRCA2):c.4001T>A (p.Leu1334Ter)	BRCA2	Pathogenic	13	32912493	32912493	T	A	reviewed by expert panel	ClinGen:CA019375