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.1592del (p.Leu531fs)	PALB2	Pathogenic	16	23646275	23646275	CA	C	reviewed by expert panel	ClinGen:CA250432,OMIM:610355.0006
single nucleotide variant	NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)	PALB2	Pathogenic	16	23646234	23646234	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA167823
Indel	NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)	PALB2	Pathogenic	16	23646190	23646191	TT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA269504
Duplication	NM_024675.4(PALB2):c.1947dup (p.Glu650fs)	PALB2	Pathogenic/Likely pathogenic	16	23641527	23641528	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA269515
single nucleotide variant	NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)	PALB2	Pathogenic/Likely pathogenic	16	23649186	23649186	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA187393
Deletion	NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs)	PALB2	Pathogenic	16	23641329	23641330	TTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA269522
Deletion	NM_024675.4(PALB2):c.229del (p.Cys77fs)	PALB2	Pathogenic	16	23647638	23647638	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA331794
single nucleotide variant	NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)	PALB2	Pathogenic	16	23641152	23641152	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA192039,OMIM:610355.0012
single nucleotide variant	NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641089	23641089	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA163823
single nucleotide variant	PALB2:c.2515-1G>T	PALB2	Likely pathogenic	16	23640597	23640597	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114879,OMIM:610355.0008