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.1724G>A (p.Trp575Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641751	23641751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299691
Deletion	NM_024675.4(PALB2):c.1059del (p.Lys353fs)	PALB2	Pathogenic	16	23646808	23646808	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299667
Deletion	NM_024675.4(PALB2):c.948del (p.Thr317fs)	PALB2	Pathogenic	16	23646919	23646919	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299666
Deletion	NM_024675.4(PALB2):c.786del (p.Glu263fs)	PALB2	Pathogenic	16	23647081	23647081	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299665
single nucleotide variant	NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)	PALB2	Pathogenic	16	23647179	23647179	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299784
single nucleotide variant	NM_024675.4(PALB2):c.212-2A>G	PALB2	Pathogenic/Likely pathogenic	16	23647657	23647657	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299700
single nucleotide variant	NM_024675.4(PALB2):c.109-2A>G	PALB2	Likely pathogenic	16	23649275	23649275	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299762
single nucleotide variant	NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)	PALB2	Pathogenic	16	23652436	23652436	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299713
Deletion	NM_007294.4(BRCA1):c.5474_5481del (p.Gly1825fs)	BRCA1	Pathogenic	17	41197806	41197813	ACATCTGCC	A	reviewed by expert panel	ClinGen:CA003638
single nucleotide variant	NM_007294.4(BRCA1):c.5332+2T>G	BRCA1	Pathogenic	17	41203078	41203078	A	C	criteria provided, single submitter	ClinGen:CA003488