PALB2変異陽性乳がん・膵臓がん

腫瘍性疾患

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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.3041_3042del (p.Leu1014fs)	PALB2	Likely pathogenic	16	23632754	23632755	TTA	T	criteria provided, single submitter	ClinGen:CA10588603
single nucleotide variant	NM_024675.4(PALB2):c.2996+1G>T	PALB2	Likely pathogenic	16	23634289	23634289	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588605
single nucleotide variant	NM_024675.4(PALB2):c.2835-2A>C	PALB2	Likely pathogenic	16	23634453	23634453	T	G	criteria provided, single submitter	ClinGen:CA10588606
single nucleotide variant	NM_024675.4(PALB2):c.2514+1G>C	PALB2	Likely pathogenic	16	23640960	23640960	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588607
Deletion	NM_024675.4(PALB2):c.1650del (p.Lys550fs)	PALB2	Likely pathogenic	16	23646217	23646217	AT	A	criteria provided, single submitter	ClinGen:CA10588609
Deletion	NM_024675.4(PALB2):c.1048del (p.Gln350fs)	PALB2	Likely pathogenic	16	23646819	23646819	TG	T	criteria provided, single submitter	ClinGen:CA10588612
single nucleotide variant	NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)	PALB2	Likely pathogenic	16	23647446	23647446	G	A	criteria provided, single submitter	ClinGen:CA10588614
Deletion	NM_024675.4(PALB2):c.2029del (p.Val677fs)	PALB2	Likely pathogenic	16	23641446	23641446	AC	A	criteria provided, single submitter	ClinGen:CA10603369
single nucleotide variant	NM_024675.4(PALB2):c.3G>A (p.Met1Ile)	PALB2	Likely pathogenic	16	23652476	23652476	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042152
single nucleotide variant	NM_024675.4(PALB2):c.3202-2A>C	PALB2	Likely pathogenic	16	23619335	23619335	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609588