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	NC_000016.10:g.(?_23603162)_(23641357_?)del	PALB2	Pathogenic	16	23614483	23652678	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23634852)_(23641167_?)del	PALB2	Pathogenic	16	23646173	23652488	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23637840)_(23641167_?)del	PALB2	Pathogenic	16	23649161	23652488	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23621352)_(23641167_?)del	PALB2	Pathogenic	16	23632673	23652488	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23634856)_(23641163_?)del	PALB2	Pathogenic	16	23646177	23652484	na	na	criteria provided, single submitter	-
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