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.4232T>C (p.Met1411Thr)	BRCA1	Likely pathogenic	17	41234546	41234546	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA002723,UniProtKB:P38398#VAR_020699
single nucleotide variant	NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)	BRCA1	Likely pathogenic	17	41219627	41219627	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003189
single nucleotide variant	NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu)	BRCA1	Likely pathogenic	17	41215947	41215947	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003237
single nucleotide variant	NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)	BRCA1	Likely pathogenic	17	41215900	41215900	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003265
single nucleotide variant	NM_007294.4(BRCA1):c.5152+4A>G	BRCA1	Likely pathogenic	17	41215887	41215887	T	C	criteria provided, single submitter	ClinGen:CA003287
single nucleotide variant	NM_007294.4(BRCA1):c.5194-2A>C	BRCA1	Likely pathogenic	17	41209154	41209154	T	G	criteria provided, single submitter	ClinGen:CA003346
single nucleotide variant	NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr)	BRCA1	Likely pathogenic	17	41209131	41209131	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003366
single nucleotide variant	NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)	BRCA1	Likely pathogenic	17	41209130	41209130	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003367,UniProtKB:P38398#VAR_070507
single nucleotide variant	NM_007294.4(BRCA1):c.5217T>G (p.Asp1739Glu)	BRCA1	Likely pathogenic	17	41209129	41209129	A	C	criteria provided, single submitter	ClinGen:CA003370
single nucleotide variant	NM_007294.4(BRCA1):c.5278-2A>T	BRCA1	Likely pathogenic	17	41203136	41203136	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003437