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_024675.4(PALB2):c.3426dup (p.Leu1143fs)	PALB2	Pathogenic	16	23614914	23614915	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA294563
single nucleotide variant	NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)	PALB2	Pathogenic	16	23647416	23647416	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294565
single nucleotide variant	NM_024675.4(PALB2):c.48G>A (p.Lys16=)	PALB2	Pathogenic/Likely pathogenic	16	23652431	23652431	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294568
Deletion	NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer)	PALB2	Pathogenic	16	23646981	23646981	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294571
Deletion	NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer)	PALB2	Pathogenic	16	23646905	23646911	TAAATTAG	T	criteria provided, single submitter	ClinGen:CA294572
single nucleotide variant	NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter)	BRCA2	Pathogenic	13	32945095	32945095	G	A	reviewed by expert panel	ClinGen:CA025681
Deletion	NM_000059.4(BRCA2):c.5386del (p.Asp1796fs)	BRCA2	Pathogenic	13	32913878	32913878	AG	A	reviewed by expert panel	ClinGen:CA022191
single nucleotide variant	NM_000059.4(BRCA2):c.6044T>A (p.Leu2015Ter)	BRCA2	Pathogenic	13	32914536	32914536	T	A	reviewed by expert panel	ClinGen:CA023566
Deletion	NM_007294.4(BRCA1):c.1612_1616del (p.Gln538fs)	BRCA1	Pathogenic	17	41245932	41245936	CGTTTG	C	reviewed by expert panel	ClinGen:CA001072
Duplication	NM_000059.4(BRCA2):c.787dup (p.Ser263fs)	BRCA2	Pathogenic	13	32905159	32905160	C	CA	reviewed by expert panel	ClinGen:CA273049