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
single nucleotide variant	NM_000059.4(BRCA2):c.4441G>T (p.Glu1481Ter)	BRCA2	Pathogenic	13	32912933	32912933	G	T	criteria provided, single submitter	ClinGen:CA387781338
Deletion	NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)	PALB2	Pathogenic	16	23646724	23646727	TAAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA621661731
Duplication	NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs)	PALB2	Pathogenic	16	23646833	23646834	A	AAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683915
Deletion	NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)	BRCA2	Pathogenic/Likely pathogenic	13	32929176	32929177	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683838
Deletion	NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer)	BRCA2	Pathogenic	13	32930708	32930708	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683852
Insertion	NM_000059.4(BRCA2):c.8744_8745insCTTA (p.Tyr2916fs)	BRCA2	Pathogenic	13	32950918	32950919	C	CCTTA	criteria provided, single submitter	ClinGen:CA658683846
single nucleotide variant	NM_000059.4(BRCA2):c.9018C>G (p.Tyr3006Ter)	BRCA2	Pathogenic	13	32953951	32953951	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757478
Deletion	NM_007294.4(BRCA1):c.1416del (p.Asn473fs)	BRCA1	Pathogenic	17	41246132	41246132	TG	T	criteria provided, single submitter	ClinGen:CA658684118
Indel	NM_007294.4(BRCA1):c.81-5_81-1delinsACCTTGA	BRCA1	Pathogenic	17	41267797	41267801	CTAGC	TCAAGGT	criteria provided, single submitter	ClinGen:CA658684101
Deletion	NM_024675.4(PALB2):c.3228del (p.Cys1078fs)	PALB2	Pathogenic	16	23619307	23619307	GA	G	criteria provided, single submitter	ClinGen:CA658683911