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
Duplication	NM_000059.4(BRCA2):c.2773dup (p.Ser925fs)	BRCA2	Pathogenic	13	32911264	32911265	C	CT	reviewed by expert panel	ClinGen:CA016320
Deletion	NM_000059.4(BRCA2):c.2786del (p.Leu929fs)	BRCA2	Pathogenic	13	32911275	32911275	GT	G	reviewed by expert panel	ClinGen:CA016352
Duplication	NM_000059.4(BRCA2):c.2786dup (p.Leu929fs)	BRCA2	Pathogenic	13	32911274	32911275	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3014&base_change=ins T,ClinGen:CA016347
Deletion	NM_000059.4(BRCA2):c.2798del (p.Thr933fs)	BRCA2	Pathogenic	13	32911290	32911290	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3026&base_change=del C,ClinGen:CA016395
Deletion	NM_000059.4(BRCA2):c.2805_2808del (p.Ala938fs)	BRCA2	Pathogenic	13	32911296	32911299	GATAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3033&base_change=del TAAA,ClinGen:CA016418
Deletion	NM_000059.4(BRCA2):c.2810_2811del (p.Gln937fs)	BRCA2	Pathogenic	13	32911302	32911303	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3038&base_change=del AA,ClinGen:CA016463
Deletion	NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs)	BRCA2	Pathogenic	13	32911301	32911304	ACAAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3040&base_change=del GCAA,ClinGen:CA016474
Deletion	NM_000059.4(BRCA2):c.2828_2831del (p.Ile943fs)	BRCA2	Pathogenic	13	32911318	32911321	CAATT	C	reviewed by expert panel	ClinGen:CA016521
single nucleotide variant	NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)	BRCA2	Pathogenic	13	32911322	32911322	A	T	reviewed by expert panel	ClinGen:CA016531
Deletion	NM_000059.4(BRCA2):c.2836_2837del (p.Asp946fs)	BRCA2	Pathogenic	13	32911327	32911328	AAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3064&base_change=del GA,ClinGen:CA016565