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
single nucleotide variant	NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter)	PALB2	Pathogenic	16	23646219	23646219	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395130127
Deletion	NM_024675.4(PALB2):c.905del (p.Asn302fs)	PALB2	Pathogenic	16	23646962	23646962	GT	G	criteria provided, single submitter	ClinGen:CA658658437
Deletion	NM_024675.4(PALB2):c.810_828del (p.Ser270fs)	PALB2	Pathogenic	16	23647039	23647057	CGTGAGTAGTAAGTTCACTG	C	criteria provided, single submitter	ClinGen:CA658658439
single nucleotide variant	NM_024675.4(PALB2):c.814G>T (p.Glu272Ter)	PALB2	Pathogenic	16	23647053	23647053	C	A	criteria provided, single submitter	ClinGen:CA395135986
Duplication	NM_024675.4(PALB2):c.734_735dup (p.Thr246fs)	PALB2	Pathogenic	16	23647131	23647132	T	TCG	criteria provided, single submitter	ClinGen:CA7963765
Deletion	NM_024675.4(PALB2):c.232del (p.Val78fs)	PALB2	Pathogenic	16	23647635	23647635	AC	A	criteria provided, single submitter	ClinGen:CA658658448
single nucleotide variant	NM_024675.4(PALB2):c.48+1G>A	PALB2	Likely pathogenic	16	23652430	23652430	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395140998
Deletion	NM_007294.4(BRCA1):c.5250del (p.Lys1750fs)	BRCA1	Pathogenic	17	41209096	41209096	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656659
single nucleotide variant	NM_007294.4(BRCA1):c.5215G>C (p.Asp1739His)	BRCA1	Likely pathogenic	17	41209131	41209131	C	G	criteria provided, single submitter	ClinGen:CA10591110
single nucleotide variant	NM_007294.4(BRCA1):c.4987-1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41219713	41219713	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10591546