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
Deletion	NM_024675.4(PALB2):c.682del (p.Gln228fs)	PALB2	Pathogenic	16	23647185	23647185	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.655_656del (p.Asp219fs)	PALB2	Pathogenic	16	23647211	23647212	GTC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)	PALB2	Pathogenic	16	23649426	23649426	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4414del (p.Leu1472fs)	BRCA1	Pathogenic	17	41228575	41228575	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4165del (p.Ser1389fs)	BRCA1	Pathogenic	17	41242981	41242981	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.3665del (p.Glu1222fs)	BRCA1	Pathogenic	17	41243883	41243883	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.2740_2750del (p.Glu914fs)	BRCA1	Pathogenic	17	41244798	41244808	GATATTAGACTC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.2149_2152del (p.Glu717fs)	BRCA1	Pathogenic	17	41245396	41245399	AGTTC	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1901_1910del (p.Pro634fs)	BRCA1	Pathogenic	17	41245638	41245647	AGTACAATTAG	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1209del (p.Glu404fs)	BRCA1	Pathogenic	17	41246339	41246339	CA	C	criteria provided, single submitter	-