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.1553C>G (p.Ser518Ter)	PALB2	Pathogenic	16	23646314	23646314	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614852
single nucleotide variant	NM_024675.4(PALB2):c.2749-1G>C	PALB2	Likely pathogenic	16	23635416	23635416	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614853
single nucleotide variant	NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)	PALB2	Pathogenic/Likely pathogenic	16	23637575	23637575	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614856
Deletion	NC_000016.10:g.(?_23603162)_(23641357_?)del	PALB2	Pathogenic	16	23614483	23652678	na	na	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.953_954del (p.Ser318fs)	PALB2	Pathogenic	16	23646913	23646914	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614862
Deletion	NC_000016.10:g.(?_23624009)_(23624094_?)del	PALB2	Pathogenic	16	23635330	23635415	na	na	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.886dup (p.Met296fs)	PALB2	Pathogenic	16	23646980	23646981	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614863
Duplication	NM_024675.4(PALB2):c.284dup (p.Thr96fs)	PALB2	Pathogenic	16	23647582	23647583	C	CT	criteria provided, single submitter	ClinGen:CA16614875
Deletion	NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs)	PALB2	Pathogenic/Likely pathogenic	16	23641768	23641769	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614886
single nucleotide variant	NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter)	PALB2	Pathogenic	16	23646432	23646432	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614893