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.4966_4984del (p.Gly1656fs)	BRCA1	Pathogenic	17	41222947	41222965	AATTCTTCTGGGGTCAGGCC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5085&base_change=del 19,ClinGen:CA003113,OMIM:113705.0020
single nucleotide variant	NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)	BRCA1	Pathogenic	17	41245159	41245159	C	A	reviewed by expert panel	ClinGen:CA001588,OMIM:113705.0023
Deletion	NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)	BRCA1	Pathogenic	17	41246702	41246705	ATGAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):962&base_change=del CTCA,ClinGen:CA003935,OMIM:113705.0024
Deletion	NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)	BRCA1	Pathogenic	17	41244057	41244067	ACTAGTATCTTC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3598&base_change=del AGGAAGATACT,Breast Cancer Information Core (BIC) (BRCA1):3600&base_change=del GAAGATACTAG,ClinGen:CA002244,OMIM:113705.0025
Deletion	NM_007294.4(BRCA1):c.1556del (p.Lys519fs)	BRCA1	Pathogenic	17	41245992	41245992	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1675&base_change=del A,ClinGen:CA001042,OMIM:113705.0026
single nucleotide variant	NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)	BRCA1	Pathogenic	17	41258474	41258474	T	C	reviewed by expert panel	ClinGen:CA001398,OMIM:113705.0034
single nucleotide variant	NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)	BRCA1	Pathogenic	17	41203088	41203088	A	C	reviewed by expert panel	BRCA1-HCI:BRCA1_00105,ClinGen:CA003478,UniProtKB:P38398#VAR_007799,OMIM:113705.0035
single nucleotide variant	NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)	BRCA1	Pathogenic	17	41203088	41203088	A	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00110,ClinGen:CA003476,UniProtKB:P38398#VAR_063212,OMIM:113705.0036
Deletion	NM_007294.4(BRCA1):c.1016del (p.Lys339fs)	BRCA1	Pathogenic	17	41246532	41246532	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1129&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):1135&base_change=del A,ClinGen:CA000682
Deletion	NM_007294.4(BRCA1):c.1018del (p.Lys339_Val340insTer)	BRCA1	Pathogenic	17	41246530	41246530	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1137&base_change=del G,ClinGen:CA000689