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.134+1G>T	BRCA1	Pathogenic/Likely pathogenic	17	41267742	41267742	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):253+1&base_change=G to T,ClinGen:CA000879
single nucleotide variant	NM_007294.4(BRCA1):c.134+2T>G	BRCA1	Pathogenic	17	41267741	41267741	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):253+2&base_change=T to G,ClinGen:CA000883
Deletion	NM_007294.4(BRCA1):c.134+2del	BRCA1	Pathogenic	17	41267741	41267741	TA	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):253+2&base_change=del T,ClinGen:CA000881
single nucleotide variant	NM_007294.4(BRCA1):c.134+3A>C	BRCA1	Pathogenic	17	41267740	41267740	T	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):253+3&base_change=A to C,ClinGen:CA000885
single nucleotide variant	NM_007294.4(BRCA1):c.135-1G>C	BRCA1	Pathogenic	17	41258551	41258551	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):254-1&base_change=G to C,ClinGen:CA000894
single nucleotide variant	NM_007294.4(BRCA1):c.1352C>A (p.Ser451Ter)	BRCA1	Pathogenic	17	41246196	41246196	G	T	reviewed by expert panel	ClinGen:CA000898
single nucleotide variant	NM_007294.4(BRCA1):c.1352C>G (p.Ser451Ter)	BRCA1	Pathogenic	17	41246196	41246196	G	C	reviewed by expert panel	ClinGen:CA000899
Deletion	NM_007294.4(BRCA1):c.1371del (p.Asp458fs)	BRCA1	Pathogenic	17	41246177	41246177	CT	C	reviewed by expert panel	ClinGen:CA000912
Deletion	NM_007294.4(BRCA1):c.1374del (p.Asp458fs)	BRCA1	Pathogenic	17	41246174	41246174	TG	T	reviewed by expert panel	ClinGen:CA000913
Deletion	NM_007294.4(BRCA1):c.1380del (p.Phe461fs)	BRCA1	Pathogenic	17	41246168	41246168	AT	A	reviewed by expert panel	ClinGen:CA000917