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_007294.4(BRCA1):c.1315dup (p.Ala439fs)	BRCA1	Pathogenic	17	41246232	41246233	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656791
Deletion	NM_007294.4(BRCA1):c.951del (p.Gln317fs)	BRCA1	Pathogenic	17	41246597	41246597	GT	G	criteria provided, single submitter	ClinGen:CA658656812
single nucleotide variant	NM_007294.4(BRCA1):c.441+2T>C	BRCA1	Likely pathogenic	17	41256137	41256137	A	G	criteria provided, single submitter	ClinGen:CA10601263
single nucleotide variant	NM_007294.4(BRCA1):c.80+5G>T	BRCA1	Pathogenic	17	41276029	41276029	C	A	criteria provided, single submitter	ClinGen:CA658656698
Duplication	NM_000059.4(BRCA2):c.764dup (p.Asn255fs)	BRCA2	Pathogenic/Likely pathogenic	13	32905134	32905135	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656371
single nucleotide variant	NM_000059.4(BRCA2):c.1753A>T (p.Lys585Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32907368	32907368	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387765514
single nucleotide variant	NM_000059.4(BRCA2):c.1910-2A>T	BRCA2	Pathogenic/Likely pathogenic	13	32910400	32910400	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387768195
single nucleotide variant	NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32911181	32911181	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387773453
Deletion	NM_000059.4(BRCA2):c.3401del (p.Ser1134fs)	BRCA2	Pathogenic/Likely pathogenic	13	32911893	32911893	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656408
Duplication	NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter)	BRCA2	Likely pathogenic	13	32913714	32913715	G	GT	criteria provided, single submitter	ClinGen:CA658656385