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.2514+1G>C	PALB2	Likely pathogenic	16	23640960	23640960	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588607
single nucleotide variant	NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641107	23641107	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588608
Deletion	NM_024675.4(PALB2):c.1650del (p.Lys550fs)	PALB2	Likely pathogenic	16	23646217	23646217	AT	A	criteria provided, single submitter	ClinGen:CA10588609
single nucleotide variant	NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646371	23646371	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588610
single nucleotide variant	NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646443	23646443	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588611
Deletion	NM_024675.4(PALB2):c.1048del (p.Gln350fs)	PALB2	Likely pathogenic	16	23646819	23646819	TG	T	criteria provided, single submitter	ClinGen:CA10588612
Deletion	NM_024675.4(PALB2):c.544del (p.Ile182fs)	PALB2	Pathogenic	16	23647323	23647323	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588613
single nucleotide variant	NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)	PALB2	Likely pathogenic	16	23647446	23647446	G	A	criteria provided, single submitter	ClinGen:CA10588614
single nucleotide variant	NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)	PALB2	Pathogenic/Likely pathogenic	16	23649204	23649204	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588615
Deletion	NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)	BRCA1	Likely pathogenic	17	41197718	41197718	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588652