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.-19-2A>G	BRCA1	Pathogenic	17	41276134	41276134	T	C	criteria provided, single submitter	ClinGen:CA10602608
Deletion	NG_005905.2:g.(?_92501)_(92714_93868)del	BRCA1	Pathogenic	17	41276133	41277500	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.1A>G (p.Met1Val)	BRCA1	Pathogenic	17	41276113	41276113	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA001332
single nucleotide variant	NM_007294.4(BRCA1):c.2T>G (p.Met1Arg)	BRCA1	Pathogenic	17	41276112	41276112	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA001955
single nucleotide variant	NM_007294.4(BRCA1):c.2T>C (p.Met1Thr)	BRCA1	Pathogenic/Likely pathogenic	17	41276112	41276112	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA001954
single nucleotide variant	NM_007294.4(BRCA1):c.3G>A (p.Met1Ile)	BRCA1	Pathogenic/Likely pathogenic	17	41276111	41276111	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:487432,ClinGen:CA10602153
single nucleotide variant	NM_007294.4(BRCA1):c.3G>C (p.Met1Ile)	BRCA1	Pathogenic	17	41276111	41276111	C	G	criteria provided, single submitter	ClinGen:CA10602152
single nucleotide variant	NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)	BRCA1	Pathogenic	17	41276111	41276111	C	A	reviewed by expert panel	ClinGen:CA002562
single nucleotide variant	NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter)	BRCA1	Pathogenic	17	41276106	41276106	A	C	reviewed by expert panel	ClinGen:CA003956
Duplication	NM_007294.4(BRCA1):c.20dup (p.Val8fs)	BRCA1	Pathogenic	17	41276093	41276094	G	GC	reviewed by expert panel	-