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.(?_23623999)_(23624104_?)del	PALB2	Pathogenic	16	23635320	23635425	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23623999)_(23626407_?)del	PALB2	Pathogenic	16	23635320	23637728	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	-
Deletion	NC_000016.10:g.(?_23603449)_(23608022_?)del	PALB2	Pathogenic	16	23614770	23619343	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_23625315)_(23625422_?)dup	PALB2	Likely pathogenic	16	23625315	23625422	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23613994)_(23626407_?)del	PALB2	Likely pathogenic	16	23625315	23637728	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23629194)_(23630479_?)del	PALB2	Pathogenic	16	23640515	23641800	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.2515-1G>A	PALB2	Likely pathogenic	16	23640597	23640597	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.2186_2187del (p.Pro729fs)	PALB2	Pathogenic	16	23641288	23641289	TGG	T	criteria provided, single submitter	-
Indel	NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs)	PALB2	Pathogenic/Likely pathogenic	16	23646825	23646828	GTTC	TTTTTT	criteria provided, multiple submitters, no conflicts	-