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
Deletion	NM_024675.4(PALB2):c.1725del (p.Ser574_Trp575insTer)	PALB2	Likely pathogenic	16	23641750	23641750	TC	T	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.1103del (p.Asn368fs)	PALB2	Pathogenic/Likely pathogenic	16	23646764	23646764	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.666_669del (p.Leu222fs)	PALB2	Likely pathogenic	16	23647198	23647201	GAATT	G	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647392	23647392	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.212-2A>T	PALB2	Likely pathogenic	16	23647657	23647657	T	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4810del (p.Gln1604fs)	BRCA1	Pathogenic/Likely pathogenic	17	41223121	41223121	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.869del (p.Leu290fs)	BRCA1	Pathogenic	17	41246679	41246679	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9693del (p.Leu3232fs)	BRCA2	Pathogenic	13	32972343	32972343	CA	C	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.5172dup (p.Glu1725fs)	BRCA1	Pathogenic	17	41215370	41215371	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.4484+2T>C	BRCA1	Pathogenic	17	41228503	41228503	A	G	criteria provided, single submitter	-