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.5090G>A (p.Cys1697Tyr)	BRCA1	Likely pathogenic	17	41215953	41215953	C	T	reviewed by expert panel	ClinGen:CA003230
single nucleotide variant	NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)	BRCA1	Likely pathogenic	17	41197766	41197766	T	G	criteria provided, single submitter	ClinGen:CA003694
single nucleotide variant	NM_000059.4(BRCA2):c.631+2T>C	BRCA2	Likely pathogenic	13	32900752	32900752	T	C	criteria provided, single submitter	ClinGen:CA023850
single nucleotide variant	NM_000059.4(BRCA2):c.7007+5G>C	BRCA2	Likely pathogenic	13	32921038	32921038	G	C	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):7235+5&base_change=G to C,ClinGen:CA024710
single nucleotide variant	NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)	BRCA2	Likely pathogenic	13	32936680	32936680	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025300
single nucleotide variant	NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)	BRCA2	Likely pathogenic	13	32937510	32937510	G	T	criteria provided, single submitter	ClinGen:CA025486
single nucleotide variant	NM_000059.4(BRCA2):c.8331+1G>T	BRCA2	Likely pathogenic	13	32937671	32937671	G	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):8559+1&base_change=G to T,ClinGen:CA025579
single nucleotide variant	NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)	BRCA2	Likely pathogenic	13	32944570	32944570	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025604
single nucleotide variant	NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg)	BRCA2	Likely pathogenic	13	32893237	32893237	T	C	criteria provided, single submitter	ClinGen:CA026029
single nucleotide variant	NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly)	BRCA1	Likely pathogenic	17	41258546	41258546	A	C	criteria provided, single submitter	ClinGen:CA000943