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.3887del (p.Asn1296fs)	BRCA2	Pathogenic	13	32912376	32912376	CA	C	reviewed by expert panel	ClinGen:CA019069
Deletion	NM_000059.4(BRCA2):c.3911del (p.Thr1304fs)	BRCA2	Pathogenic	13	32912403	32912403	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4139&base_change=del C,ClinGen:CA019141
Deletion	NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)	BRCA2	Pathogenic	13	32912404	32912404	CT	C	reviewed by expert panel	ClinGen:CA019164
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