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_007294.3(BRCA1):c.(?_-1)_134+?del	BRCA1	Pathogenic	17	41267743	41276114	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.(?_-1)_80+?del	BRCA1	Pathogenic	17	41276034	41276114	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter)	CDKN2A	Pathogenic	9	21974679	21974679	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350345
single nucleotide variant	NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg)	CDKN2A	Pathogenic/Likely pathogenic	9	21974780	21974780	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA350461
Deletion	NM_000059.4(BRCA2):c.144del (p.Glu49fs)	BRCA2	Pathogenic	13	32893289	32893289	GA	G	reviewed by expert panel	ClinGen:CA350208
single nucleotide variant	NM_000059.4(BRCA2):c.632-3C>G	BRCA2	Pathogenic/Likely pathogenic	13	32903577	32903577	C	G	reviewed by expert panel	ClinGen:CA348611
single nucleotide variant	NM_000059.4(BRCA2):c.3191C>G (p.Ser1064Ter)	BRCA2	Pathogenic	13	32911683	32911683	C	G	reviewed by expert panel	ClinGen:CA348662
Deletion	NM_000059.4(BRCA2):c.3201del (p.Val1068fs)	BRCA2	Pathogenic	13	32911693	32911693	CT	C	reviewed by expert panel	ClinGen:CA350572
Deletion	NM_000059.4(BRCA2):c.3649del (p.Arg1217fs)	BRCA2	Pathogenic	13	32912141	32912141	TA	T	reviewed by expert panel	ClinGen:CA348063
single nucleotide variant	NM_000059.4(BRCA2):c.5016C>G (p.Tyr1672Ter)	BRCA2	Pathogenic	13	32913508	32913508	C	G	reviewed by expert panel	ClinGen:CA348640