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.3599_3600del (p.Gln1200fs)	BRCA1	Pathogenic	17	41243948	41243949	CCT	C	reviewed by expert panel	ClinGen:CA002297
Deletion	NM_007294.4(BRCA1):c.3672del (p.Cys1225fs)	BRCA1	Pathogenic	17	41243876	41243876	AG	A	reviewed by expert panel	ClinGen:CA002352
Insertion	NM_007294.4(BRCA1):c.3761_3762insTT (p.Lys1254fs)	BRCA1	Pathogenic	17	41243786	41243787	C	CAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3880&base_change=ins TT,ClinGen:CA002417
single nucleotide variant	NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)	BRCA1	Pathogenic	17	41243494	41243494	C	A	reviewed by expert panel	ClinGen:CA002590
Deletion	NM_007294.4(BRCA1):c.4062_4065del (p.Asn1355fs)	BRCA1	Pathogenic	17	41243483	41243486	GATTA	G	reviewed by expert panel	ClinGen:CA002593
single nucleotide variant	NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter)	BRCA1	Pathogenic	17	41243454	41243454	A	C	reviewed by expert panel	ClinGen:CA002616
Insertion	NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)	BRCA1	Pathogenic/Likely pathogenic	17	41243029	41243030	C	CAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA002639
single nucleotide variant	NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter)	BRCA1	Pathogenic	17	41234424	41234424	T	A	reviewed by expert panel	ClinGen:CA002783
single nucleotide variant	NM_007294.4(BRCA1):c.4357+2T>G	BRCA1	Pathogenic/Likely pathogenic	17	41234419	41234419	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4476+2&base_change=T to G,ClinGen:CA002792
Deletion	NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)	BRCA1	Pathogenic	17	41226530	41226530	AG	A	reviewed by expert panel	ClinGen:CA002885