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_007294.4(BRCA1):c.190_211del (p.Cys64fs)	BRCA1	Pathogenic	17	41258474	41258495	CTTTTGGTTATATCATTCTTACA	C	reviewed by expert panel	ClinGen:CA10590030
Duplication	NM_007294.4(BRCA1):c.202dup (p.Ile68fs)	BRCA1	Pathogenic	17	41258482	41258483	A	AT	reviewed by expert panel	ClinGen:CA10590031
Insertion	NM_007294.4(BRCA1):c.182_183insGCGC (p.Cys61fs)	BRCA1	Pathogenic	17	41258502	41258503	A	AGCGC	reviewed by expert panel	ClinGen:CA10590032
Duplication	NM_007294.4(BRCA1):c.179dup (p.Cys61fs)	BRCA1	Pathogenic	17	41258505	41258506	C	CT	reviewed by expert panel	ClinGen:CA10590033
single nucleotide variant	NM_007294.4(BRCA1):c.176C>A (p.Ser59Ter)	BRCA1	Pathogenic	17	41258509	41258509	G	T	reviewed by expert panel	ClinGen:CA10590034
Duplication	NM_007294.4(BRCA1):c.171dup (p.Pro58fs)	BRCA1	Pathogenic	17	41258513	41258514	G	GC	reviewed by expert panel	ClinGen:CA10590035
Insertion	NM_007294.4(BRCA1):c.140_141insT (p.Met48fs)	BRCA1	Pathogenic	17	41258544	41258545	G	GA	reviewed by expert panel	ClinGen:CA10590036
Deletion	NM_007294.4(BRCA1):c.101_105del (p.Pro34fs)	BRCA1	Pathogenic	17	41267772	41267776	AGACAG	A	reviewed by expert panel	ClinGen:CA10590037
Deletion	NM_007294.4(BRCA1):c.98_105del (p.Glu33fs)	BRCA1	Pathogenic	17	41267772	41267779	AGACAGGTT	A	reviewed by expert panel	ClinGen:CA10590038
Deletion	NM_007294.4(BRCA1):c.102del (p.Val35fs)	BRCA1	Pathogenic	17	41267775	41267775	CA	C	reviewed by expert panel	ClinGen:CA10590039