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.4484G>A (p.Arg1495Lys)	BRCA1	Pathogenic/Likely pathogenic	17	41228505	41228505	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA002875
single nucleotide variant	NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)	BRCA1	Pathogenic	17	41228505	41228505	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4603&base_change=G to T,ClinGen:CA002876,UniProtKB:P38398#VAR_063900
Duplication	NM_007294.4(BRCA1):c.466dup (p.Leu156fs)	BRCA1	Pathogenic	17	41251872	41251873	A	AG	reviewed by expert panel	ClinGen:CA002953
single nucleotide variant	NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)	BRCA1	Pathogenic	17	41226348	41226348	C	T	reviewed by expert panel	ClinGen:CA002963
single nucleotide variant	NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)	BRCA1	Pathogenic/Likely pathogenic	17	41226348	41226348	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA002964
single nucleotide variant	NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)	BRCA1	Pathogenic	17	41223242	41223242	G	C	reviewed by expert panel	ClinGen:CA002979
Indel	NM_007294.4(BRCA1):c.4775_4779delinsC (p.Asn1592fs)	BRCA1	Pathogenic	17	41223152	41223156	TATGT	G	reviewed by expert panel	ClinGen:CA003016
single nucleotide variant	NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41223063	41223063	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003058,UniProtKB:P38398#VAR_063901
Deletion	NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)	BRCA1	Pathogenic	17	41222949	41222967	TTCTTCTGGGGTCAGGCCAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5083&base_change=del 19,ClinGen:CA003108
single nucleotide variant	NM_007294.4(BRCA1):c.4986+1G>T	BRCA1	Pathogenic	17	41222944	41222944	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003119