家族性膵がん - MGenReviews

家族性膵がん

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.(?_23613994)_(23624104_?)del	PALB2	Likely pathogenic	16	23625315	23635425	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41219605)_(41219732_?)dup	BRCA1	Pathogenic	17	41219605	41219732	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43070908)_(43125483_?)del	BRCA1	Pathogenic	17	41222925	41277500	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43104848)_(43106553_?)del	BRCA1	Pathogenic	17	41256865	41258570	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3113+5G>A	PALB2	Likely pathogenic	16	23632678	23632678	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.211+1G>T	PALB2	Pathogenic/Likely pathogenic	16	23649170	23649170	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32315480)_(32319345_?)del	BRCA2	Pathogenic	13	32889617	32893482	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32329423)_(32398790_?)del	BRCA2	Pathogenic	13	32903560	32972927	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32362503)_(32398790_?)del	BRCA2	Pathogenic	13	32936640	32972927	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.213-2A>T	BRCA1	Pathogenic	17	41256975	41256975	T	A	criteria provided, single submitter	-