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
Duplication	NM_007294.4(BRCA1):c.531dup (p.Val178fs)	BRCA1	Pathogenic	17	41251807	41251808	C	CA	reviewed by expert panel	ClinGen:CA348159
single nucleotide variant	NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41256899	41256899	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA348195
Deletion	NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs)	BRCA2	Pathogenic	13	32913454	32913454	GT	G	reviewed by expert panel	ClinGen:CA10575849
single nucleotide variant	NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646825	23646825	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575850
single nucleotide variant	NM_000059.4(BRCA2):c.67+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32890665	32890665	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575902
Deletion	NM_000059.4(BRCA2):c.161del (p.Asn54fs)	BRCA2	Pathogenic	13	32893303	32893303	TA	T	reviewed by expert panel	ClinGen:CA10575903
Deletion	NM_000059.4(BRCA2):c.1190_1197del (p.Gln397fs)	BRCA2	Pathogenic	13	32906804	32906811	TCAACTAAC	T	criteria provided, single submitter	ClinGen:CA10575906
Deletion	NM_000059.4(BRCA2):c.3001del (p.Ser1001fs)	BRCA2	Pathogenic	13	32911491	32911491	AT	A	criteria provided, single submitter	ClinGen:CA10575913
Deletion	NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs)	BRCA2	Pathogenic	13	32912325	32912326	CAT	C	reviewed by expert panel	ClinGen:CA10575917
Deletion	NM_000059.4(BRCA2):c.4041_4042del (p.Cys1348fs)	BRCA2	Pathogenic	13	32912532	32912533	GTT	G	criteria provided, single submitter	ClinGen:CA10575918