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.3256del (p.Arg1086fs)	PALB2	Pathogenic/Likely pathogenic	16	23619279	23619279	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042146
single nucleotide variant	NM_024675.4(PALB2):c.3202-1G>A	PALB2	Pathogenic/Likely pathogenic	16	23619334	23619334	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042147
single nucleotide variant	NM_024675.4(PALB2):c.2748+1G>C	PALB2	Pathogenic/Likely pathogenic	16	23637556	23637556	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042148
single nucleotide variant	NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)	PALB2	Pathogenic/Likely pathogenic	16	23640535	23640535	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042149
Deletion	NM_024675.4(PALB2):c.1838del (p.Gln613fs)	PALB2	Pathogenic/Likely pathogenic	16	23641637	23641637	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042150
single nucleotide variant	NM_024675.4(PALB2):c.3G>A (p.Met1Ile)	PALB2	Likely pathogenic	16	23652476	23652476	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042152
Duplication	NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs)	BRCA1	Pathogenic/Likely pathogenic	17	41199686	41199687	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042162
single nucleotide variant	NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter)	BRCA1	Pathogenic/Likely pathogenic	17	41203105	41203105	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590934
Deletion	NM_007294.4(BRCA1):c.5156del (p.Val1719fs)	BRCA1	Pathogenic/Likely pathogenic	17	41215387	41215387	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042164
single nucleotide variant	NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter)	BRCA1	Pathogenic	17	41243000	41243000	G	T	reviewed by expert panel	ClinGen:CA10593429