家族性膵がん - MGenReviews

家族性膵がん

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.1599_1600del (p.Glu534fs)	BRCA2	Pathogenic	13	32907214	32907215	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1827&base_change=del TG,ClinGen:CA012586
Deletion	NM_000059.4(BRCA2):c.1612_1613del (p.Ser538fs)	BRCA2	Pathogenic	13	32907227	32907228	AAG	A	reviewed by expert panel	ClinGen:CA012626
Deletion	NM_000059.4(BRCA2):c.1617del (p.Leu540fs)	BRCA2	Pathogenic	13	32907232	32907232	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1845&base_change=del A,ClinGen:CA012633
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