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.697del (p.Val233fs)	PALB2	Pathogenic	16	23647170	23647170	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA331802
Deletion	NM_024675.4(PALB2):c.72del (p.Arg26fs)	PALB2	Pathogenic/Likely pathogenic	16	23649427	23649427	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA151253
single nucleotide variant	NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)	PALB2	Pathogenic	16	23647116	23647116	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA269645
Duplication	NM_024675.4(PALB2):c.758dup (p.Ser254fs)	PALB2	Pathogenic/Likely pathogenic	16	23647108	23647109	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA294009
Deletion	NM_000059.4(BRCA2):c.9152del (p.Pro3051fs)	BRCA2	Pathogenic	13	32954177	32954177	GC	G	reviewed by expert panel	ClinGen:CA026005
single nucleotide variant	NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	PALB2	Pathogenic	16	23646627	23646627	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA288395
Inversion	NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)	PALB2	Pathogenic	16	23646191	23646192	TG	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA288410
Deletion	NM_024675.4(PALB2):c.2120del (p.Pro707fs)	PALB2	Pathogenic	16	23641355	23641355	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA288431
Deletion	NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs)	PALB2	Pathogenic	16	23641079	23641085	GGTAGGTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA288447
Duplication	NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)	PALB2	Pathogenic	16	23614884	23614885	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA288484