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
single nucleotide variant	NM_007294.4(BRCA1):c.5307T>A (p.Tyr1769Ter)	BRCA1	Pathogenic	17	41203105	41203105	A	T	reviewed by expert panel	ClinGen:CA003459
Deletion	NM_007294.4(BRCA1):c.5310del (p.Phe1772fs)	BRCA1	Pathogenic	17	41203102	41203102	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5427&base_change=del G,ClinGen:CA003461
Duplication	NM_007294.4(BRCA1):c.5310dup (p.Pro1771fs)	BRCA1	Pathogenic	17	41203101	41203102	G	GC	reviewed by expert panel	ClinGen:CA327998
Deletion	NM_007294.4(BRCA1):c.5315del (p.Phe1772fs)	BRCA1	Pathogenic	17	41203097	41203097	GA	G	reviewed by expert panel	ClinGen:CA003469
Duplication	NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)	BRCA1	Pathogenic	17	41203092	41203093	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5438&base_change=ins C,ClinGen:CA003472,OMIM:113705.0021
Deletion	NM_007294.4(BRCA1):c.5320_5321del (p.Asn1774fs)	BRCA1	Pathogenic	17	41203091	41203092	GTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5439&base_change=del AA,ClinGen:CA003473
Deletion	NM_007294.4(BRCA1):c.5323_5324del (p.Met1775fs)	BRCA1	Pathogenic	17	41203088	41203089	CAT	C	reviewed by expert panel	ClinGen:CA003475
Duplication	NM_007294.4(BRCA1):c.5328dup (p.Thr1777fs)	BRCA1	Pathogenic	17	41203083	41203084	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5447&base_change=ins C,ClinGen:CA268388
single nucleotide variant	NM_007294.4(BRCA1):c.5332+1G>A	BRCA1	Pathogenic	17	41203079	41203079	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5451+1&base_change=G to A,ClinGen:CA003484
single nucleotide variant	NM_007294.4(BRCA1):c.5332+1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41203079	41203079	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003485