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_007294.4(BRCA1):c.379del (p.Ser127fs)	BRCA1	Likely pathogenic	17	41256201	41256201	CT	C	criteria provided, single submitter	ClinGen:CA658684055
single nucleotide variant	NM_000059.4(BRCA2):c.516+2T>G	BRCA2	Pathogenic	13	32900421	32900421	T	G	criteria provided, single submitter	ClinGen:CA387757755
single nucleotide variant	NM_000059.4(BRCA2):c.9649-1G>T	BRCA2	Pathogenic	13	32972298	32972298	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387765053
Insertion	NM_000059.4(BRCA2):c.6261_6262insGT (p.Thr2088fs)	BRCA2	Pathogenic	13	32914753	32914754	A	AGT	criteria provided, single submitter	ClinGen:CA658798130
Deletion	NM_007294.4(BRCA1):c.1568del (p.Leu523fs)	BRCA1	Pathogenic	17	41245980	41245980	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798842
single nucleotide variant	NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)	CDKN2A	Pathogenic/Likely pathogenic	9	21971199	21971199	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA190730408
Deletion	NC_000013.11:g.(?_32316455)_(32357935_?)del	BRCA2	Pathogenic	13	32890592	32932072	na	na	criteria provided, single submitter	-
Duplication	NC_000013.10:g.(?_32944533)_(32945243_?)dup	BRCA2	Likely pathogenic	13	32944533	32945243	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32329437)_(32341202_?)del	BRCA2	Pathogenic	13	32903574	32915339	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32356422)_(32356615_?)del	BRCA2	Pathogenic	13	32930559	32930752	na	na	criteria provided, single submitter	-