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_000013.11:g.(?_32325070)_(32325190_?)del	BRCA2	Pathogenic	13	32899207	32899327	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.476-1G>C	BRCA2	Pathogenic	13	32900378	32900378	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.3637G>T (p.Glu1213Ter)	BRCA2	Pathogenic	13	32912129	32912129	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7510_7513dup (p.Pro2505fs)	BRCA2	Pathogenic	13	32930636	32930637	G	GTCTT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8702del (p.Gly2901fs)	BRCA2	Pathogenic	13	32950875	32950875	TG	T	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603449)_(23603679_?)del	PALB2	Pathogenic	16	23614770	23615000	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_23619175)_(23619343_?)dup	PALB2	Likely pathogenic	16	23619175	23619343	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	-
Duplication	NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs)	PALB2	Pathogenic	16	23614797	23614798	C	CAA	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.3297_3301del (p.Thr1100fs)	PALB2	Pathogenic	16	23619234	23619238	AGAGTC	A	criteria provided, multiple submitters, no conflicts	-