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	NC_000017.11:g.(?_43044295)_(43099880_?)del	BRCA1	Pathogenic	17	41196312	41251897	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.5278-?_5406+?del	BRCA1	Pathogenic	17	41201138	41203134	na	na	criteria provided, single submitter	-
Duplication	NM_007294.3(BRCA1):c.5278-?_5406+?dup129	BRCA1	Likely pathogenic	17	41201138	41203134	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.5075-?_5193+?del	BRCA1	Pathogenic	17	41215350	41215968	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.4676-?_4986+?del	BRCA1	Pathogenic	17	41222945	41223255	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.2273T>A (p.Leu758Ter)	BRCA1	Pathogenic	17	41245275	41245275	A	T	reviewed by expert panel	ClinGen:CA10597455
Deletion	NM_007294.4(BRCA1):c.2209del (p.Thr737fs)	BRCA1	Pathogenic	17	41245339	41245339	GT	G	reviewed by expert panel	ClinGen:CA16615369
Duplication	NM_007294.4(BRCA1):c.4996_4997dup (p.Lys1667fs)	BRCA1	Pathogenic	17	41219701	41219702	G	GTA	reviewed by expert panel	ClinGen:CA16615378
Indel	NM_007294.4(BRCA1):c.4064_4066delinsT (p.Asn1355fs)	BRCA1	Pathogenic	17	41243482	41243484	GAT	A	reviewed by expert panel	ClinGen:CA16615383
Deletion	NM_007294.4(BRCA1):c.885_888del (p.Asp295fs)	BRCA1	Pathogenic	17	41246660	41246663	TTCTG	T	reviewed by expert panel	ClinGen:CA16615392