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.1591_1592del (p.Leu531fs)	PALB2	Pathogenic	16	23646275	23646276	CAA	C	criteria provided, single submitter	ClinGen:CA16609598
Duplication	NM_024675.4(PALB2):c.1186dup (p.Cys396fs)	PALB2	Pathogenic	16	23646680	23646681	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609599
Duplication	NM_024675.4(PALB2):c.1114dup (p.Ser372fs)	PALB2	Pathogenic	16	23646752	23646753	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609600
Deletion	NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs)	PALB2	Pathogenic	16	23646817	23646820	TTTGA	T	criteria provided, single submitter	ClinGen:CA16609601
single nucleotide variant	NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter)	PALB2	Pathogenic	16	23646828	23646828	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609602
Duplication	NM_024675.4(PALB2):c.976dup (p.Ser326fs)	PALB2	Pathogenic	16	23646890	23646891	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609603
single nucleotide variant	NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)	PALB2	Pathogenic	16	23646936	23646936	T	A	criteria provided, single submitter	ClinGen:CA16609604
Deletion	NM_024675.4(PALB2):c.759del (p.Ser254fs)	PALB2	Pathogenic/Likely pathogenic	16	23647108	23647108	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609605
single nucleotide variant	NM_024675.4(PALB2):c.108+1G>A	PALB2	Likely pathogenic	16	23649390	23649390	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609606
single nucleotide variant	NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)	PALB2	Pathogenic	16	23649393	23649393	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609607