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
Duplication	NM_000059.4(BRCA2):c.6437_6440dup (p.His2147fs)	BRCA2	Likely pathogenic	13	32914927	32914928	T	TAATC	criteria provided, single submitter	ClinGen:CA658683805
Deletion	NM_007294.4(BRCA1):c.4211del (p.Leu1404fs)	BRCA1	Likely pathogenic	17	41234567	41234567	CA	C	criteria provided, single submitter	ClinGen:CA658684087
Duplication	NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs)	BRCA2	Pathogenic/Likely pathogenic	13	32953565	32953566	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683851
Deletion	NM_007294.4(BRCA1):c.754del (p.Arg252fs)	BRCA1	Pathogenic	17	41246794	41246794	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684122
Deletion	NM_000059.4(BRCA2):c.9254del (p.Thr3085fs)	BRCA2	Pathogenic/Likely pathogenic	13	32954280	32954280	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683861
Deletion	NM_007294.4(BRCA1):c.1825_1829del (p.Asn609fs)	BRCA1	Likely pathogenic	17	41245719	41245723	CCTATT	C	criteria provided, single submitter	ClinGen:CA658684109
Indel	NM_007294.4(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs)	BRCA1	Likely pathogenic	17	41246592	41246606	TTATGTTGGCTCCTT	GAAGTAAG	criteria provided, single submitter	ClinGen:CA658684120
Duplication	NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)	BRCA1	Pathogenic/Likely pathogenic	17	41228592	41228593	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684036
Duplication	NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs)	BRCA1	Pathogenic/Likely pathogenic	17	41244072	41244073	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684114
single nucleotide variant	NM_007294.4(BRCA1):c.614T>G (p.Leu205Ter)	BRCA1	Likely pathogenic	17	41247919	41247919	A	C	criteria provided, single submitter	ClinGen:CA10600875