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.4463dup (p.Asn1488fs)	BRCA1	Pathogenic	17	41228525	41228526	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4582&base_change=ins A,ClinGen:CA002862
single nucleotide variant	NM_007294.4(BRCA1):c.4675+3A>T	BRCA1	Pathogenic	17	41226345	41226345	T	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4794+3&base_change=A to T,ClinGen:CA002961
single nucleotide variant	NM_007294.4(BRCA1):c.4676-1G>A	BRCA1	Pathogenic	17	41223256	41223256	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4795-1&base_change=G to A,ClinGen:CA002968
single nucleotide variant	NM_007294.4(BRCA1):c.4676-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41223257	41223257	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4795-2&base_change=A to G,ClinGen:CA002969
Insertion	NM_007294.4(BRCA1):c.4696_4697insA (p.Ser1566fs)	BRCA1	Pathogenic	17	41223234	41223235	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4815&base_change=ins A,ClinGen:CA002981
Deletion	NM_007294.4(BRCA1):c.4764_4765del (p.Arg1589fs)	BRCA1	Pathogenic	17	41223166	41223167	CGA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4883&base_change=del TC,ClinGen:CA003009
Duplication	NM_007294.4(BRCA1):c.4843dup (p.Ala1615fs)	BRCA1	Pathogenic	17	41223087	41223088	G	GC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4962&base_change=ins G,ClinGen:CA003049
Duplication	NM_007294.4(BRCA1):c.4891dup (p.Ser1631fs)	BRCA1	Pathogenic	17	41223039	41223040	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5010&base_change=ins A,ClinGen:CA003065
Deletion	NM_007294.4(BRCA1):c.4944_4945del (p.Arg1649fs)	BRCA1	Pathogenic	17	41222986	41222987	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5063&base_change=del AA,ClinGen:CA003095
single nucleotide variant	NM_007294.4(BRCA1):c.4986+1G>A	BRCA1	Pathogenic	17	41222944	41222944	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+1&base_change=G to A,ClinGen:CA003118