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.2108T>G (p.Leu703Ter)	PALB2	Pathogenic	16	23641367	23641367	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963621
single nucleotide variant	NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)	PALB2	Pathogenic	16	23641556	23641556	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963646
Insertion	NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter)	PALB2	Pathogenic	16	23646441	23646442	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580009
single nucleotide variant	NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)	PALB2	Pathogenic	16	23646489	23646489	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580012
Deletion	NM_024675.4(PALB2):c.1216del (p.Ala406fs)	PALB2	Pathogenic	16	23646651	23646651	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580017
Deletion	NM_024675.4(PALB2):c.1206del (p.Leu403fs)	PALB2	Pathogenic	16	23646661	23646661	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580018
Deletion	NM_024675.4(PALB2):c.745_749del (p.Pro249fs)	PALB2	Pathogenic	16	23647118	23647122	TAAAGG	T	criteria provided, single submitter	ClinGen:CA10580031
Duplication	NM_024675.4(PALB2):c.707dup (p.Leu237fs)	PALB2	Pathogenic/Likely pathogenic	16	23647159	23647160	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580032
Deletion	NM_024675.4(PALB2):c.658del (p.Ser220fs)	PALB2	Pathogenic	16	23647209	23647209	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580035
single nucleotide variant	NM_024675.4(PALB2):c.541G>T (p.Glu181Ter)	PALB2	Pathogenic	16	23647326	23647326	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580039