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.3901_3902del (p.Cys1300_Ser1301insTer)	BRCA1	Pathogenic	17	41243646	41243647	ACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4020&base_change=del AG,ClinGen:CA002510
single nucleotide variant	NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)	BRCA1	Pathogenic	17	41243644	41243644	C	A	reviewed by expert panel	ClinGen:CA002513
single nucleotide variant	NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)	BRCA1	Pathogenic	17	41256190	41256190	G	T	reviewed by expert panel	ClinGen:CA002515
Deletion	NM_007294.4(BRCA1):c.3910del (p.Glu1304fs)	BRCA1	Pathogenic	17	41243638	41243638	TC	T	reviewed by expert panel	ClinGen:CA002516
Deletion	NM_007294.4(BRCA1):c.3914del (p.Asp1305fs)	BRCA1	Pathogenic	17	41243634	41243634	GT	G	reviewed by expert panel	ClinGen:CA002518
Deletion	NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)	BRCA1	Pathogenic	17	41243631	41243632	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4035&base_change=del TT,ClinGen:CA002519
single nucleotide variant	NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter)	BRCA1	Pathogenic	17	41256189	41256189	T	A	reviewed by expert panel	ClinGen:CA002521
Deletion	NM_007294.4(BRCA1):c.3926del (p.Asn1309fs)	BRCA1	Pathogenic	17	41243622	41243622	AT	A	reviewed by expert panel	ClinGen:CA002522
Deletion	NM_007294.4(BRCA1):c.3927_3930del (p.Asn1309fs)	BRCA1	Pathogenic	17	41243618	41243621	TTGTA	T	reviewed by expert panel	ClinGen:CA002523
Deletion	NM_007294.4(BRCA1):c.3931_3934del (p.Asn1311fs)	BRCA1	Pathogenic	17	41243614	41243617	GTGTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4050&base_change=del AACA,ClinGen:CA002525