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
Deletion	NM_024675.4(PALB2):c.1216del (p.Ala406fs)	PALB2	Pathogenic	16	23646651	23646651	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580017
Deletion	NM_024675.4(PALB2):c.1206del (p.Leu403fs)	PALB2	Pathogenic	16	23646661	23646661	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580018
Deletion	NM_024675.4(PALB2):c.745_749del (p.Pro249fs)	PALB2	Pathogenic	16	23647118	23647122	TAAAGG	T	criteria provided, single submitter	ClinGen:CA10580031
Duplication	NM_024675.4(PALB2):c.707dup (p.Leu237fs)	PALB2	Pathogenic/Likely pathogenic	16	23647159	23647160	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580032
Deletion	NM_024675.4(PALB2):c.658del (p.Ser220fs)	PALB2	Pathogenic	16	23647209	23647209	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580035
single nucleotide variant	NM_024675.4(PALB2):c.541G>T (p.Glu181Ter)	PALB2	Pathogenic	16	23647326	23647326	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580039
Deletion	NM_024675.4(PALB2):c.500_513del (p.Asp167fs)	PALB2	Pathogenic	16	23647354	23647367	ACAATCTGAGTGAAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580040
Deletion	NM_024675.4(PALB2):c.466_467del (p.Ile156fs)	PALB2	Pathogenic/Likely pathogenic	16	23647400	23647401	AAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580042
single nucleotide variant	NM_024675.4(PALB2):c.347T>A (p.Leu116Ter)	PALB2	Pathogenic	16	23647520	23647520	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580044
single nucleotide variant	NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)	PALB2	Pathogenic	16	23649267	23649267	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580053