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.3027del (p.Glu1010fs)	PALB2	Pathogenic	16	23632769	23632769	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579938
single nucleotide variant	NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)	PALB2	Pathogenic	16	23634318	23634318	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579941
Duplication	NM_024675.4(PALB2):c.2760dup (p.Gln921fs)	PALB2	Pathogenic	16	23635403	23635404	G	GT	criteria provided, single submitter	ClinGen:CA10579952
single nucleotide variant	NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)	PALB2	Pathogenic	16	23637612	23637612	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579954
single nucleotide variant	NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)	PALB2	Pathogenic	16	23637631	23637631	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579956
Deletion	NM_024675.4(PALB2):c.2635del (p.Arg879fs)	PALB2	Pathogenic	16	23637670	23637670	CT	C	criteria provided, single submitter	ClinGen:CA10579958
single nucleotide variant	NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)	PALB2	Pathogenic	16	23637675	23637675	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579959
Indel	NM_024675.4(PALB2):c.2482_2504delinsAAGGTACAAT (p.Cys828fs)	PALB2	Pathogenic	16	23640971	23640993	GAATGTTTATGCAGCTCCTGGCA	ATTGTACCTT	criteria provided, single submitter	ClinGen:CA10579965
Deletion	NM_024675.4(PALB2):c.2488del (p.Glu830fs)	PALB2	Pathogenic	16	23640987	23640987	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579966
Deletion	NM_024675.4(PALB2):c.2470del (p.Cys824fs)	PALB2	Pathogenic	16	23641005	23641005	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579969