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.2749-1G>T	PALB2	Likely pathogenic	16	23635416	23635416	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609292
single nucleotide variant	NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter)	PALB2	Pathogenic	16	23637632	23637632	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395122040
Duplication	NM_024675.4(PALB2):c.2607dup (p.Val870fs)	PALB2	Pathogenic	16	23637697	23637698	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683918
single nucleotide variant	NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter)	PALB2	Pathogenic	16	23641011	23641011	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395124102
Duplication	NM_024675.4(PALB2):c.1619dup (p.Asn540fs)	PALB2	Pathogenic	16	23646247	23646248	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683935
Deletion	NM_024675.4(PALB2):c.667del (p.Ile223fs)	PALB2	Pathogenic	16	23647200	23647200	AT	A	criteria provided, single submitter	ClinGen:CA658683920
single nucleotide variant	NM_007294.4(BRCA1):c.5152+2T>C	BRCA1	Pathogenic/Likely pathogenic	17	41215889	41215889	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10591239
Indel	NM_007294.4(BRCA1):c.4688_4694delinsG (p.Tyr1563_Glu1565delinsTer)	BRCA1	Pathogenic	17	41223237	41223243	TCCAGGT	C	criteria provided, single submitter	ClinGen:CA658684117
Duplication	NM_007294.4(BRCA1):c.2156_2163dup (p.Val722fs)	BRCA1	Pathogenic	17	41245384	41245385	C	CAAATTCTT	criteria provided, single submitter	ClinGen:CA658684098
single nucleotide variant	NM_007294.4(BRCA1):c.688G>T (p.Glu230Ter)	BRCA1	Pathogenic/Likely pathogenic	17	41246860	41246860	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10600711