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
Indel	NM_000059.4(BRCA2):c.7626_7637delinsT (p.Thr2542_Tyr2543insTer)	BRCA2	Pathogenic	13	32931887	32931898	GTATGGCGTTTC	T	criteria provided, single submitter	ClinGen:CA658656451
Deletion	NM_024675.4(PALB2):c.2837del (p.Ala946fs)	PALB2	Pathogenic	16	23634449	23634449	TG	T	criteria provided, single submitter	ClinGen:CA658658398
Duplication	NM_000059.4(BRCA2):c.7985dup (p.Glu2663fs)	BRCA2	Pathogenic/Likely pathogenic	13	32937323	32937324	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656343
single nucleotide variant	NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641230	23641230	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395125490
single nucleotide variant	NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641257	23641257	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395125558
single nucleotide variant	NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter)	PALB2	Pathogenic	16	23635377	23635377	A	C	criteria provided, single submitter	ClinGen:CA395145066
Indel	NM_000059.4(BRCA2):c.8488-1_8496delinsCT	BRCA2	Likely pathogenic	13	32945092	32945101	GTGGATGGAG	CT	criteria provided, single submitter	ClinGen:CA658656379
single nucleotide variant	NM_024675.4(PALB2):c.2749-2A>C	PALB2	Likely pathogenic	16	23635417	23635417	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA395145283
Deletion	NM_024675.4(PALB2):c.1972del (p.Glu658fs)	PALB2	Pathogenic	16	23641503	23641503	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658412
single nucleotide variant	NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter)	PALB2	Pathogenic	16	23641530	23641530	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395127417