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
Duplication	NM_000059.4(BRCA2):c.1484dup (p.Ser496fs)	BRCA2	Pathogenic	13	32907098	32907099	G	GC	reviewed by expert panel	ClinGen:CA10589098
Deletion	NM_000059.4(BRCA2):c.1504_1511del (p.Lys502fs)	BRCA2	Pathogenic	13	32907117	32907124	ATCAAAAAG	A	reviewed by expert panel	ClinGen:CA10589099
Deletion	NM_000059.4(BRCA2):c.1508del (p.Lys503fs)	BRCA2	Pathogenic	13	32907119	32907119	CA	C	reviewed by expert panel	ClinGen:CA10589100
Deletion	NM_000059.4(BRCA2):c.1538_1541del (p.Lys513fs)	BRCA2	Pathogenic	13	32907152	32907155	TAAAG	T	reviewed by expert panel	ClinGen:CA10589102
Deletion	NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs)	BRCA2	Pathogenic	13	32907172	32907173	GTT	G	reviewed by expert panel	ClinGen:CA10589103
Deletion	NM_000059.4(BRCA2):c.1587_1590del (p.Phe529fs)	BRCA2	Pathogenic	13	32907202	32907205	TTAAA	T	reviewed by expert panel	ClinGen:CA10589104
Indel	NM_000059.4(BRCA2):c.1587delTinsCA	BRCA2	Pathogenic	13	32907202	32907202	T	CA	reviewed by expert panel	ClinGen:CA10589105
Deletion	NM_000059.4(BRCA2):c.1594_1595del (p.Glu532fs)	BRCA2	Pathogenic	13	32907208	32907209	AAG	A	reviewed by expert panel	ClinGen:CA10589106
single nucleotide variant	NM_000059.4(BRCA2):c.1621G>T (p.Glu541Ter)	BRCA2	Pathogenic	13	32907236	32907236	G	T	reviewed by expert panel	ClinGen:CA10589107
Indel	NM_000059.4(BRCA2):c.1668_1671delinsATT (p.Asn556fs)	BRCA2	Pathogenic	13	32907283	32907286	TTTA	ATT	reviewed by expert panel	ClinGen:CA10589108