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
single nucleotide variant	NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)	BRCA1	Pathogenic	17	41242963	41242963	G	A	reviewed by expert panel	ClinGen:CA002677
single nucleotide variant	NM_007294.4(BRCA1):c.4185+1G>T	BRCA1	Pathogenic/Likely pathogenic	17	41242960	41242960	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4304+1&base_change=G to T,ClinGen:CA002684
single nucleotide variant	NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)	BRCA1	Pathogenic	17	41242961	41242961	C	T	reviewed by expert panel	ClinGen:CA002692
Deletion	NM_007294.4(BRCA1):c.4185_4185+3del	BRCA1	Pathogenic	17	41242958	41242961	TTACC	T	criteria provided, single submitter	ClinGen:CA327916
single nucleotide variant	NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter)	BRCA1	Pathogenic	17	41234592	41234592	G	A	reviewed by expert panel	ClinGen:CA002700
Deletion	NM_007294.4(BRCA1):c.4195_4196del (p.Thr1399fs)	BRCA1	Pathogenic	17	41234582	41234583	GGT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4314&base_change=del AC,ClinGen:CA002702
single nucleotide variant	NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)	BRCA1	Pathogenic	17	41234577	41234577	G	A	reviewed by expert panel	ClinGen:CA002705
Deletion	NM_007294.4(BRCA1):c.4210del (p.Asn1403_Leu1404insTer)	BRCA1	Pathogenic	17	41234568	41234568	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4329&base_change=del C,ClinGen:CA002712
single nucleotide variant	NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)	BRCA1	Pathogenic	17	41234556	41234556	G	A	reviewed by expert panel	ClinGen:CA002719
single nucleotide variant	NM_007294.4(BRCA1):c.4228G>T (p.Glu1410Ter)	BRCA1	Pathogenic	17	41234550	41234550	C	A	reviewed by expert panel	ClinGen:CA002721