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
Insertion	NM_007294.3(BRCA1):c.5033_5034ins4	BRCA1	Pathogenic	17	41219665	41219666	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):5152&base_change=ins 4
Duplication	NM_007294.4(BRCA1):c.5056dup (p.His1686fs)	BRCA1	Pathogenic	17	41219642	41219643	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5175&base_change=ins C,ClinGen:CA003176
single nucleotide variant	NM_007294.4(BRCA1):c.5075-1G>C	BRCA1	Pathogenic	17	41215969	41215969	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5194-1&base_change=G to C,ClinGen:CA003205
Deletion	NM_007294.4(BRCA1):c.5098del (p.Thr1700fs)	BRCA1	Pathogenic	17	41215945	41215945	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5217&base_change=del A,ClinGen:CA003239
Deletion	NM_007294.4(BRCA1):c.5145del (p.Tyr1716fs)	BRCA1	Pathogenic	17	41215898	41215898	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5264&base_change=del C,ClinGen:CA003269
single nucleotide variant	NM_007294.4(BRCA1):c.5152+1G>A	BRCA1	Pathogenic	17	41215890	41215890	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5271+1&base_change=G to A,ClinGen:CA003279
single nucleotide variant	NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro)	BRCA1	Likely pathogenic	17	41215379	41215379	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003317
single nucleotide variant	NM_007294.4(BRCA1):c.5194-1G>A	BRCA1	Pathogenic	17	41209153	41209153	C	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):5313-1&base_change=G to A,ClinGen:CA003345
Deletion	NM_007294.4(BRCA1):c.5241del (p.Gly1748fs)	BRCA1	Pathogenic	17	41209105	41209105	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5360&base_change=del A,ClinGen:CA003381
Deletion	NM_007294.4(BRCA1):c.5277+1_5277+6del	BRCA1	Pathogenic	17	41209063	41209068	GCTTTAC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5396+1&base_change=del 6,ClinGen:CA16615648