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
Duplication	NM_024675.4(PALB2):c.2325dup (p.Phe776fs)	PALB2	Pathogenic	16	23641149	23641150	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579974
Deletion	NM_024675.4(PALB2):c.2296_2297del (p.Val767fs)	PALB2	Pathogenic	16	23641178	23641179	TGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579975
Deletion	NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)	PALB2	Pathogenic/Likely pathogenic	16	23641184	23641187	TTTCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579976
Deletion	NM_024675.4(PALB2):c.2280del (p.Ala761fs)	PALB2	Pathogenic	16	23641195	23641195	CA	C	criteria provided, single submitter	ClinGen:CA10579977
Deletion	NM_024675.4(PALB2):c.2156del (p.Pro719fs)	PALB2	Pathogenic/Likely pathogenic	16	23641319	23641319	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579983
Insertion	NM_024675.4(PALB2):c.2142_2143insTAA (p.Asp715Ter)	PALB2	Pathogenic	16	23641332	23641333	C	CTTA	criteria provided, single submitter	ClinGen:CA10579984
single nucleotide variant	NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter)	PALB2	Pathogenic	16	23641367	23641367	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963621
single nucleotide variant	NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)	PALB2	Pathogenic	16	23641556	23641556	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963646
Insertion	NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter)	PALB2	Pathogenic	16	23646441	23646442	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580009
single nucleotide variant	NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)	PALB2	Pathogenic	16	23646489	23646489	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580012