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.1631_1632del (p.Thr544fs)	BRCA2	Pathogenic	13	32907246	32907247	ACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1859&base_change=del CT,ClinGen:CA012690
Deletion	NM_000059.4(BRCA2):c.1636del (p.Cys546fs)	BRCA2	Pathogenic	13	32907249	32907249	GT	G	reviewed by expert panel	ClinGen:CA012707
Deletion	NM_000059.4(BRCA2):c.1646_1649del (p.Lys549fs)	BRCA2	Pathogenic	13	32907259	32907262	AGAAG	A	reviewed by expert panel	ClinGen:CA012752
Deletion	NM_000059.4(BRCA2):c.1654del (p.Ser552fs)	BRCA2	Pathogenic	13	32907269	32907269	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1882&base_change=del T,ClinGen:CA012798
single nucleotide variant	NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)	BRCA2	Pathogenic	13	32907285	32907285	T	G	reviewed by expert panel	ClinGen:CA012870
Deletion	NM_000059.4(BRCA2):c.1670_1683del (p.Asn556_Leu557insTer)	BRCA2	Pathogenic	13	32907285	32907298	TTAATTGATAATGGA	T	reviewed by expert panel	ClinGen:CA012855
Deletion	NM_000059.4(BRCA2):c.1672del (p.Ile558fs)	BRCA2	Pathogenic	13	32907286	32907286	TA	T	reviewed by expert panel	ClinGen:CA012875
single nucleotide variant	NM_000059.4(BRCA2):c.1681G>T (p.Gly561Ter)	BRCA2	Pathogenic	13	32907296	32907296	G	T	reviewed by expert panel	ClinGen:CA012901
single nucleotide variant	NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)	BRCA2	Pathogenic	13	32907304	32907304	G	A	reviewed by expert panel	ClinGen:CA012907
Deletion	NM_000059.4(BRCA2):c.1705del (p.Gln569fs)	BRCA2	Pathogenic	13	32907320	32907320	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1933&base_change=del C,ClinGen:CA012955