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.1129C>T (p.Gln377Ter)	PALB2	Pathogenic	16	23646738	23646738	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.1042del (p.Gln348fs)	PALB2	Pathogenic	16	23646825	23646825	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.1037_1038del (p.Lys346fs)	PALB2	Pathogenic	16	23646829	23646830	CTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.1010T>A (p.Leu337Ter)	PALB2	Pathogenic	16	23646857	23646857	A	T	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.832del (p.Asp277_Leu278insTer)	PALB2	Pathogenic	16	23647035	23647035	AG	A	criteria provided, single submitter	-
Insertion	NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs)	PALB2	Pathogenic	16	23647345	23647346	T	TTG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.512T>A (p.Leu171Ter)	PALB2	Pathogenic	16	23647355	23647355	A	T	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.76del (p.Arg26fs)	PALB2	Pathogenic/Likely pathogenic	16	23649423	23649423	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_23621352)_(23636344_?)del	PALB2	Pathogenic	16	23632673	23647665	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23634852)_(23638139_?)del	PALB2	Pathogenic	16	23646173	23649460	na	na	criteria provided, single submitter	-