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_000059.4(BRCA2):c.8585_8586del (p.Leu2862fs)	BRCA2	Pathogenic	13	32945190	32945191	CTA	C	reviewed by expert panel	ClinGen:CA10583144
Deletion	NM_000059.4(BRCA2):c.9270del (p.Phe3090fs)	BRCA2	Pathogenic	13	32968839	32968839	TC	T	reviewed by expert panel	ClinGen:CA10583152
Deletion	NM_024675.3(PALB2):c.3351-?_*297del	PALB2	Pathogenic	16	23614483	23614990	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter)	PALB2	Pathogenic	16	23614921	23614921	C	T	criteria provided, single submitter	ClinGen:CA10583349
single nucleotide variant	NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)	PALB2	Pathogenic	16	23637711	23637711	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583360
single nucleotide variant	NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)	PALB2	Pathogenic	16	23640966	23640966	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583361
Deletion	NM_024675.4(PALB2):c.2079del (p.His693fs)	PALB2	Pathogenic	16	23641396	23641396	TA	T	criteria provided, single submitter	ClinGen:CA10583366
single nucleotide variant	NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter)	PALB2	Pathogenic	16	23646498	23646498	C	A	criteria provided, single submitter	ClinGen:CA10583374
single nucleotide variant	NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)	PALB2	Pathogenic	16	23649420	23649420	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583387
single nucleotide variant	NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)	PALB2	Pathogenic	16	23652472	23652472	C	A	reviewed by expert panel	ClinGen:CA10583388