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_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)	BRCA2	Pathogenic	13	32913004	32913014	TGACCTTCCAGG	T	reviewed by expert panel	ClinGen:CA338948
Duplication	NM_000059.4(BRCA2):c.4587dup (p.Lys1530fs)	BRCA2	Pathogenic	13	32913076	32913077	C	CG	reviewed by expert panel	ClinGen:CA335811
single nucleotide variant	NM_000059.4(BRCA2):c.6022A>T (p.Lys2008Ter)	BRCA2	Pathogenic	13	32914514	32914514	A	T	reviewed by expert panel	ClinGen:CA335857
single nucleotide variant	NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)	BRCA2	Pathogenic	13	32936726	32936726	T	G	reviewed by expert panel	ClinGen:CA339124
Deletion	NM_000059.4(BRCA2):c.7946del (p.Pro2649fs)	BRCA2	Pathogenic	13	32936798	32936798	GC	G	reviewed by expert panel	ClinGen:CA336502
single nucleotide variant	NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)	BRCA2	Pathogenic	13	32937482	32937482	A	T	reviewed by expert panel	ClinGen:CA339029
single nucleotide variant	NM_000059.4(BRCA2):c.8420C>A (p.Ser2807Ter)	BRCA2	Pathogenic	13	32944627	32944627	C	A	reviewed by expert panel	ClinGen:CA336160
Deletion	NM_024675.3(PALB2):c.3114-?_3201+?del	PALB2	Pathogenic	16	23625325	23625412	na	na	criteria provided, single submitter	-
Duplication	NM_024675.3(PALB2):c.3114-?_3201+?dup88	PALB2	Likely pathogenic	16	23625325	23625412	na	na	criteria provided, single submitter	-
Deletion	NM_024675.3(PALB2):c.2587-?_2748+?del	PALB2	Pathogenic/Likely pathogenic	16	23637557	23637718	na	na	criteria provided, multiple submitters, no conflicts	-