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.2548del (p.Ser850fs)	BRCA1	Pathogenic	17	41245000	41245000	CT	C	reviewed by expert panel	ClinGen:CA658653690
Deletion	NM_007294.4(BRCA1):c.2302del (p.Ser768fs)	BRCA1	Pathogenic	17	41245246	41245246	CT	C	reviewed by expert panel	ClinGen:CA658653691
Deletion	NM_007294.4(BRCA1):c.1618del (p.Glu540fs)	BRCA1	Pathogenic	17	41245930	41245930	TC	T	reviewed by expert panel	ClinGen:CA658653701
Indel	NM_007294.4(BRCA1):c.825_828delinsAAT (p.Thr276fs)	BRCA1	Pathogenic	17	41246720	41246723	TGTG	ATT	reviewed by expert panel	ClinGen:CA658653685
Duplication	NM_007294.4(BRCA1):c.411dup (p.Leu138fs)	BRCA1	Pathogenic	17	41256168	41256169	G	GA	reviewed by expert panel	ClinGen:CA658653689
single nucleotide variant	NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32907055	32907055	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387764299
single nucleotide variant	NM_000059.4(BRCA2):c.2099T>A (p.Leu700Ter)	BRCA2	Pathogenic	13	32910591	32910591	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387769896
single nucleotide variant	NM_000059.4(BRCA2):c.4397T>G (p.Leu1466Ter)	BRCA2	Pathogenic	13	32912889	32912889	T	G	criteria provided, single submitter	ClinGen:CA387781122
single nucleotide variant	NM_000059.4(BRCA2):c.6298C>T (p.Gln2100Ter)	BRCA2	Pathogenic	13	32914790	32914790	C	T	criteria provided, single submitter	ClinGen:CA387789022
single nucleotide variant	NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter)	PALB2	Likely pathogenic	16	23619211	23619211	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395139372