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
single nucleotide variant	NM_024675.4(PALB2):c.1A>G (p.Met1Val)	PALB2	Likely pathogenic	16	23652478	23652478	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584527
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.7G>T (p.Glu3Ter)	PALB2	Pathogenic	16	23652472	23652472	C	A	reviewed by expert panel	ClinGen:CA10583388
Duplication	NM_024675.4(PALB2):c.12dup (p.Pro5fs)	PALB2	Pathogenic	16	23652466	23652467	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584526
Indel	NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs)	PALB2	Pathogenic	16	23652453	23652453	A	CG	criteria provided, single submitter	ClinGen:CA165127
Deletion	NM_024675.4(PALB2):c.35del (p.Glu12fs)	PALB2	Pathogenic	16	23652444	23652444	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580061
single nucleotide variant	NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)	PALB2	Pathogenic	16	23652436	23652436	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299713
single nucleotide variant	NM_024675.4(PALB2):c.48G>A (p.Lys16=)	PALB2	Pathogenic/Likely pathogenic	16	23652431	23652431	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294568
single nucleotide variant	NM_024675.4(PALB2):c.48+1G>A	PALB2	Likely pathogenic	16	23652430	23652430	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395140998
Deletion	NM_024675.4(PALB2):c.48+1del	PALB2	Likely pathogenic	16	23652430	23652430	AC	A	criteria provided, single submitter	ClinGen:CA16609608