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_007294.4(BRCA1):c.3420dup (p.His1141fs)	BRCA1	Pathogenic	17	41244127	41244128	G	GA	reviewed by expert panel	ClinGen:CA327866
Indel	NM_007294.4(BRCA1):c.3428delinsTA (p.Ser1143fs)	BRCA1	Pathogenic	17	41244120	41244120	G	TA	reviewed by expert panel	ClinGen:CA327867
single nucleotide variant	NM_007294.4(BRCA1):c.3430C>T (p.Gln1144Ter)	BRCA1	Pathogenic	17	41244118	41244118	G	A	reviewed by expert panel	ClinGen:CA002219
Deletion	NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)	BRCA1	Pathogenic	17	41244109	41244112	GAACA	G	reviewed by expert panel	ClinGen:CA002224
Deletion	NM_007294.4(BRCA1):c.3450del (p.Asp1151fs)	BRCA1	Pathogenic	17	41244098	41244098	CA	C	reviewed by expert panel	ClinGen:CA002230
Duplication	NM_007294.4(BRCA1):c.3450dup (p.Asp1151Ter)	BRCA1	Pathogenic	17	41244097	41244098	C	CA	reviewed by expert panel	ClinGen:CA327868
Deletion	NM_007294.4(BRCA1):c.3468del (p.Asp1156fs)	BRCA1	Pathogenic	17	41244080	41244080	CA	C	reviewed by expert panel	ClinGen:CA002235
single nucleotide variant	NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter)	BRCA1	Pathogenic	17	41244076	41244076	C	A	reviewed by expert panel	ClinGen:CA002237
Indel	NM_007294.4(BRCA1):c.3477_3479delinsC (p.Lys1160fs)	BRCA1	Pathogenic	17	41244069	41244071	TTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3596&base_change=del AAA ins C,ClinGen:CA002238
Deletion	NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs)	BRCA1	Pathogenic	17	41244068	41244071	CCTTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3596&base_change=del AAAG,ClinGen:CA002239