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_000059.4(BRCA2):c.8170G>T (p.Gly2724Trp)	BRCA2	Likely pathogenic	13	32937509	32937509	G	T	criteria provided, single submitter	ClinGen:CA16607488
single nucleotide variant	NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter)	PALB2	Pathogenic	16	23646443	23646443	G	T	criteria provided, single submitter	ClinGen:CA16608121
Deletion	NM_024675.4(PALB2):c.3311del (p.Gly1104fs)	PALB2	Pathogenic	16	23619224	23619224	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609587
single nucleotide variant	NM_024675.4(PALB2):c.3202-2A>C	PALB2	Likely pathogenic	16	23619335	23619335	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609588
Duplication	NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)	PALB2	Pathogenic/Likely pathogenic	16	23634310	23634311	C	CAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609589
Deletion	NM_024675.4(PALB2):c.2850del (p.Ser951fs)	PALB2	Pathogenic	16	23634436	23634436	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609591
Deletion	NM_024675.4(PALB2):c.2832del (p.Arg945fs)	PALB2	Pathogenic/Likely pathogenic	16	23635332	23635332	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609592
single nucleotide variant	NM_024675.4(PALB2):c.2748+2T>C	PALB2	Likely pathogenic	16	23637555	23637555	A	G	criteria provided, single submitter	ClinGen:CA16609594
Deletion	NM_024675.4(PALB2):c.2092del (p.Leu698fs)	PALB2	Pathogenic	16	23641383	23641383	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609596
Deletion	NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs)	PALB2	Pathogenic	16	23641657	23641658	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609597