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_000017.11:g.(?_43115706)_(43125483_?)del	BRCA1	Pathogenic	17	41267723	41277500	na	na	criteria provided, single submitter	-
Duplication	NM_000077.5(CDKN2A):c.197dup (p.His66fs)	CDKN2A	Pathogenic	9	21971160	21971161	G	GT	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.5182dup (p.Met1728fs)	BRCA1	Pathogenic	17	41215360	41215361	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.5176A>T (p.Arg1726Ter)	BRCA1	Pathogenic	17	41215367	41215367	T	A	criteria provided, single submitter	-
Indel	NM_007294.4(BRCA1):c.4196_4197delinsT (p.Thr1399fs)	BRCA1	Pathogenic	17	41234581	41234582	GG	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1576_1577del (p.Gln526fs)	BRCA1	Pathogenic	17	41245971	41245972	TTG	T	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1285del (p.Lys428_Ile429insTer)	BRCA1	Pathogenic	17	41246263	41246263	AT	A	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.779dup (p.Tyr261fs)	BRCA1	Pathogenic	17	41246768	41246769	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)	BRCA1	Pathogenic/Likely pathogenic	17	41267756	41267756	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_23623999)_(23624104_?)del	PALB2	Pathogenic	16	23635320	23635425	na	na	criteria provided, single submitter	-