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.302-1G>T	BRCA1	Pathogenic/Likely pathogenic	17	41256279	41256279	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):421-1&base_change=G to T,ClinGen:CA001976
Deletion	NM_007294.4(BRCA1):c.4110_4111del (p.Gly1371fs)	BRCA1	Pathogenic	17	41243035	41243036	CCA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4229&base_change=del TG,ClinGen:CA002631
Insertion	NM_007294.4(BRCA1):c.4111_4112insATCT (p.Gly1371fs)	BRCA1	Pathogenic	17	41243034	41243035	C	CAGAT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4230&base_change=ins ATCT,ClinGen:CA002632
Deletion	NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)	BRCA1	Pathogenic	17	41243033	41243033	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4232&base_change=del G,ClinGen:CA002634
Deletion	NM_007294.4(BRCA1):c.4128_4129del (p.Ser1377fs)	BRCA1	Pathogenic	17	41243017	41243018	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4247&base_change=del AA,ClinGen:CA002648
Duplication	NM_007294.4(BRCA1):c.4163dup (p.Ser1389fs)	BRCA1	Pathogenic	17	41242982	41242983	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4282&base_change=ins A,ClinGen:CA002662
Insertion	NM_007294.4(BRCA1):c.4167_4168insAG (p.Asp1390fs)	BRCA1	Pathogenic	17	41242978	41242979	C	CCT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4286&base_change=ins AG,ClinGen:CA002667
Deletion	NM_007294.4(BRCA1):c.4214del (p.Ile1405fs)	BRCA1	Pathogenic	17	41234564	41234564	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4333&base_change=del T,ClinGen:CA002715
Insertion	NM_007294.4(BRCA1):c.4285_4286insG (p.Tyr1429Ter)	BRCA1	Pathogenic	17	41234492	41234493	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4404&base_change=ins G,ClinGen:CA002748
Duplication	NM_007294.4(BRCA1):c.4289dup (p.Ser1431fs)	BRCA1	Pathogenic	17	41234488	41234489	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4408&base_change=ins C,ClinGen:CA002751