家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.8562T>G (p.Tyr2854Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32945167	32945167	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs)	BRCA2	Pathogenic/Likely pathogenic	13	32918736	32918740	CAGGAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4333_4337del (p.Lys1445fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912822	32912826	TAATAA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641283	23641283	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4356del (p.Ala1453fs)	BRCA1	Pathogenic/Likely pathogenic	17	41234422	41234422	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.5247T>G (p.Tyr1749Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913739	32913739	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.8488-2A>C	BRCA2	Pathogenic/Likely pathogenic	13	32945091	32945091	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32907110	32907110	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.738del (p.Phe246fs)	BRCA2	Pathogenic/Likely pathogenic	13	32905110	32905110	AT	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs)	PALB2	Pathogenic/Likely pathogenic	16	23646825	23646828	GTTC	TTTTTT	criteria provided, multiple submitters, no conflicts	-