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_024675.3(PALB2):c.3202-?_*(1_?)del	PALB2	Pathogenic	16	23614779	23619333	na	na	criteria provided, single submitter	-
Deletion	NM_024675.3(PALB2):c.3351-?_*(1_?)del	PALB2	Pathogenic	16	23614779	23614990	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603453)_(23614097_?)del	PALB2	Pathogenic	16	23614774	23625418	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603449)_(23614101_?)del	PALB2	Pathogenic	16	23614770	23625422	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603449)_(23603679_?)del	PALB2	Pathogenic	16	23614770	23615000	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603449)_(23608022_?)del	PALB2	Pathogenic	16	23614770	23619343	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603449)_(23626407_?)del	PALB2	Pathogenic	16	23614770	23637728	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603162)_(23641357_?)del	PALB2	Pathogenic	16	23614483	23652678	na	na	criteria provided, single submitter	-
Deletion	NM_024675.3(PALB2):c.3351-?_*297del	PALB2	Pathogenic	16	23614483	23614990	na	na	criteria provided, single submitter	-
Duplication	NM_024675.3(PALB2):c.3350+1090_*1278dup	PALB2	Likely pathogenic	16	23613502	23618095	na	na	criteria provided, single submitter	ClinGen:CA645372597