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.4745del (p.Asp1582fs)	BRCA1	Pathogenic	17	41223186	41223186	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4864&base_change=del A,ClinGen:CA003003
Deletion	NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)	BRCA1	Pathogenic	17	41223176	41223177	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4873&base_change=del CA,ClinGen:CA003007
single nucleotide variant	NM_007294.4(BRCA1):c.4760C>G (p.Ser1587Ter)	BRCA1	Pathogenic	17	41223171	41223171	G	C	reviewed by expert panel	ClinGen:CA003008
Deletion	NM_007294.4(BRCA1):c.4764del (p.Arg1589fs)	BRCA1	Pathogenic	17	41223167	41223167	GA	G	reviewed by expert panel	ClinGen:CA003010
single nucleotide variant	NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter)	BRCA1	Pathogenic	17	41223130	41223130	T	A	reviewed by expert panel	ClinGen:CA003028
single nucleotide variant	NM_007294.4(BRCA1):c.4810C>T (p.Gln1604Ter)	BRCA1	Pathogenic	17	41223121	41223121	G	A	reviewed by expert panel	ClinGen:CA003031
Duplication	NM_007294.4(BRCA1):c.4836dup (p.Ser1613fs)	BRCA1	Pathogenic	17	41223094	41223095	T	TC	reviewed by expert panel	ClinGen:CA327949
Deletion	NM_007294.4(BRCA1):c.4837del (p.Ser1613fs)	BRCA1	Pathogenic	17	41223094	41223094	CT	C	reviewed by expert panel	ClinGen:CA003046
Insertion	NM_007294.4(BRCA1):c.4838_4839insC (p.Pro1614fs)	BRCA1	Pathogenic	17	41223092	41223093	A	AG	reviewed by expert panel	ClinGen:CA003047
Deletion	NM_007294.4(BRCA1):c.4873_4885del (p.Tyr1625fs)	BRCA1	Pathogenic	17	41223046	41223058	TCCATTGCATTATA	T	reviewed by expert panel	ClinGen:CA003059