PALB2変異陽性乳がん・膵臓がん

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_024675.3(PALB2):c.3114-?_*(1_?)del	PALB2	Pathogenic	16	23614779	23625412	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603459)_(23608012_?)del	PALB2	Pathogenic	16	23614780	23619333	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603459)_(23626397_?)del	PALB2	Pathogenic	16	23614780	23637718	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614792	23614792	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA151250,OMIM:610355.0003
single nucleotide variant	NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)	PALB2	Pathogenic	16	23614792	23614792	G	T	reviewed by expert panel	ClinGen:CA288488
Duplication	NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs)	PALB2	Pathogenic	16	23614797	23614798	C	CAA	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)	PALB2	Pathogenic	16	23614818	23614818	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395137833
Deletion	NM_024675.4(PALB2):c.3497del (p.Gly1166fs)	PALB2	Pathogenic	16	23614844	23614844	AC	A	criteria provided, single submitter	ClinGen:CA151249
single nucleotide variant	NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614847	23614847	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395137923
single nucleotide variant	NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614849	23614849	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584499