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.3858_3861del (p.Ser1286fs)	BRCA1	Pathogenic	17	41243687	41243690	CCTCA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3975&base_change=del AGTG,Breast Cancer Information Core (BIC) (BRCA1):3977&base_change=del 4,ClinGen:CA002486
single nucleotide variant	NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)	BRCA1	Pathogenic	17	41243680	41243680	T	A	reviewed by expert panel	ClinGen:CA002492
single nucleotide variant	NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)	BRCA1	Pathogenic	17	41243611	41243611	G	A	reviewed by expert panel	ClinGen:CA002527
single nucleotide variant	NM_007294.4(BRCA1):c.3991C>T (p.Gln1331Ter)	BRCA1	Pathogenic	17	41243557	41243557	G	A	reviewed by expert panel	ClinGen:CA002556
single nucleotide variant	NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter)	BRCA1	Pathogenic	17	41243533	41243533	C	A	reviewed by expert panel	ClinGen:CA002568
Deletion	NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)	BRCA1	Pathogenic	17	41243513	41243513	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4154&base_change=del A,ClinGen:CA002573,OMIM:113705.0030
single nucleotide variant	NM_007294.4(BRCA1):c.4097-1G>A	BRCA1	Pathogenic	17	41243050	41243050	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4216-1&base_change=G to A,BRCA1-HCI:BRCA1_00136,ClinGen:CA002624
single nucleotide variant	NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)	BRCA1	Pathogenic	17	41243029	41243029	C	A	reviewed by expert panel	ClinGen:CA002641
single nucleotide variant	NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)	BRCA1	Pathogenic	17	41242998	41242998	G	C	reviewed by expert panel	ClinGen:CA002657
Indel	NM_007294.4(BRCA1):c.4185+2_4185+22delinsA	BRCA1	Pathogenic	17	41242939	41242959	CACACACACACACGCTTTTTA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4304+2&base_change=del 21 ins A,ClinGen:CA260692