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.5186del (p.Leu1729fs)	BRCA1	Pathogenic	17	41215357	41215357	CA	C	reviewed by expert panel	ClinGen:CA003329
single nucleotide variant	NM_007294.4(BRCA1):c.5193+1G>T	BRCA1	Pathogenic	17	41215349	41215349	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003338
Deletion	NM_007294.4(BRCA1):c.5277+1del	BRCA1	Pathogenic/Likely pathogenic	17	41209068	41209068	AC	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5396+1&base_change=del G,ClinGen:CA003418
single nucleotide variant	NM_007294.4(BRCA1):c.5468-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41197821	41197821	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003625
single nucleotide variant	NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)	BRCA1	Pathogenic	17	41197771	41197771	A	G	reviewed by expert panel	ClinGen:CA003693
single nucleotide variant	NM_007294.4(BRCA1):c.81-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41267797	41267797	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):200-1&base_change=G to A,ClinGen:CA003904
Deletion	NM_007294.4(BRCA1):c.936del (p.Gly312_Leu313insTer)	BRCA1	Pathogenic	17	41246612	41246612	AG	A	reviewed by expert panel	ClinGen:CA003975
single nucleotide variant	NM_000059.4(BRCA2):c.8633-1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32950806	32950806	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025747
single nucleotide variant	NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter)	BRCA2	Pathogenic	13	32953538	32953538	G	T	reviewed by expert panel	ClinGen:CA025846
single nucleotide variant	NM_000059.4(BRCA2):c.8933C>G (p.Ser2978Ter)	BRCA2	Pathogenic	13	32953632	32953632	C	G	reviewed by expert panel	ClinGen:CA025878