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	NM_024675.4(PALB2):c.899del (p.Thr300fs)	PALB2	Pathogenic	16	23646968	23646968	TG	T	criteria provided, single submitter	ClinGen:CA658798559
Deletion	NM_024675.4(PALB2):c.693del (p.Gly232fs)	PALB2	Pathogenic	16	23647174	23647174	CT	C	criteria provided, single submitter	ClinGen:CA658798561
single nucleotide variant	NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter)	PALB2	Pathogenic	16	23634417	23634417	T	A	criteria provided, single submitter	ClinGen:CA395144397
Deletion	NC_000017.11:g.(?_43074325)_(43115785_?)del	BRCA1	Pathogenic	17	41226342	41267802	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43057046)_(43074527_?)del	BRCA1	Pathogenic	17	41209063	41226544	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41234415)_(41258556_?)dup	BRCA1	Likely pathogenic	17	41234415	41258556	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43095840)_(43106539_?)del	BRCA1	Pathogenic	17	41247857	41258556	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43099769)_(43124102_?)del	BRCA1	Pathogenic	17	41251786	41276119	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43045672)_(43106539_?)del	BRCA1	Pathogenic	17	41197689	41258556	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43051057)_(43051123_?)del	BRCA1	Pathogenic	17	41203074	41203140	na	na	criteria provided, single submitter	-