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.2654dup (p.Ser886fs)	BRCA1	Pathogenic	17	41244893	41244894	G	GA	reviewed by expert panel	ClinGen:CA197167
Deletion	NM_007294.4(BRCA1):c.2407_2408del (p.Gln804fs)	BRCA1	Pathogenic	17	41245140	41245141	ACT	A	reviewed by expert panel	ClinGen:CA001601
Duplication	NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)	BRCA1	Pathogenic	17	41245333	41245334	T	TA	reviewed by expert panel	ClinGen:CA196121
Deletion	NM_007294.4(BRCA1):c.1964del (p.Tyr655fs)	BRCA1	Pathogenic	17	41245584	41245584	GT	G	reviewed by expert panel	ClinGen:CA001311
Deletion	NM_007294.4(BRCA1):c.1477del (p.Ile493fs)	BRCA1	Pathogenic	17	41246071	41246071	AT	A	reviewed by expert panel	ClinGen:CA000990
Duplication	NM_007294.4(BRCA1):c.1256dup (p.Asp420fs)	BRCA1	Pathogenic	17	41246291	41246292	T	TA	reviewed by expert panel	ClinGen:CA195393
Duplication	NM_007294.4(BRCA1):c.416dup (p.Ser140fs)	BRCA1	Pathogenic	17	41256163	41256164	C	CT	reviewed by expert panel	ClinGen:CA196590
Deletion	NM_007294.4(BRCA1):c.212+1del	BRCA1	Likely pathogenic	17	41258472	41258472	AC	A	criteria provided, single submitter	ClinGen:CA001404
single nucleotide variant	NM_007294.4(BRCA1):c.212G>T (p.Arg71Met)	BRCA1	Pathogenic/Likely pathogenic	17	41258473	41258473	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA001421
single nucleotide variant	NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr)	CDKN2A	Pathogenic/Likely pathogenic	9	21974685	21974685	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA334526