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
Insertion	NM_000059.4(BRCA2):c.9323_9324insATTA (p.Asp3108fs)	BRCA2	Pathogenic	13	32968891	32968892	G	GAATT	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.9383dup (p.Pro3129fs)	BRCA2	Pathogenic	13	32968951	32968952	C	CG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9386_9387insCTGATTTGGACCACT (p.Pro3129_Glu3130insTer)	BRCA2	Pathogenic	13	32968955	32968956	C	CCTGATTTGGACCACT	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.9470del (p.Glu3157fs)	BRCA2	Pathogenic	13	32969039	32969039	GA	G	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9517_9518insCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCTT (p.Cys3173fs)	BRCA2	Pathogenic	13	32971048	32971049	T	TTTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTC	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9704_9705insG (p.Lys3236fs)	BRCA2	Pathogenic	13	32972354	32972355	C	CG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9716_9717insAT (p.Val3240fs)	BRCA2	Pathogenic	13	32972366	32972367	C	CAT	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.5533_5534insG (p.Tyr1845Ter)	BRCA1	Pathogenic	17	41197753	41197754	T	TC	reviewed by expert panel	-
Deletion	NM_007294.4(BRCA1):c.5518del (p.Asp1840fs)	BRCA1	Pathogenic	17	41197769	41197769	TC	T	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.5495_5496insTT (p.Val1833fs)	BRCA1	Pathogenic	17	41197791	41197792	C	CAA	reviewed by expert panel	-