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_024675.4(PALB2):c.72del (p.Arg26fs)	PALB2	Pathogenic/Likely pathogenic	16	23649427	23649427	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA151253
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_024675.4(PALB2):c.76del (p.Arg26fs)	PALB2	Pathogenic/Likely pathogenic	16	23649423	23649423	CT	C	criteria provided, multiple submitters, no conflicts	-
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
Duplication	NM_024675.4(PALB2):c.93dup (p.Leu32fs)	PALB2	Pathogenic/Likely pathogenic	16	23649405	23649406	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA348754
single nucleotide variant	NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)	PALB2	Pathogenic	16	23649393	23649393	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609607
single nucleotide variant	NM_024675.4(PALB2):c.108+1G>A	PALB2	Likely pathogenic	16	23649390	23649390	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609606
single nucleotide variant	NM_024675.4(PALB2):c.109-2A>G	PALB2	Likely pathogenic	16	23649275	23649275	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299762
single nucleotide variant	NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)	PALB2	Pathogenic	16	23649267	23649267	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580053
Duplication	NM_024675.4(PALB2):c.117_120dup (p.Ala41fs)	PALB2	Likely pathogenic	16	23649261	23649262	C	CTCTT	criteria provided, single submitter	-