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
Indel	NM_007294.4(BRCA1):c.5331_5332+1delinsCAACAT	BRCA1	Pathogenic	17	41203079	41203081	CCT	ATGTTG	reviewed by expert panel	ClinGen:CA10581595
Deletion	NM_007294.4(BRCA1):c.5278-2del	BRCA1	Pathogenic	17	41203136	41203136	CT	C	reviewed by expert panel	ClinGen:CA10581596
Deletion	NM_007294.4(BRCA1):c.5181_5182del (p.Lys1727fs)	BRCA1	Pathogenic	17	41215361	41215362	ATT	A	reviewed by expert panel	ClinGen:CA10581597
single nucleotide variant	NM_007294.4(BRCA1):c.4576G>T (p.Glu1526Ter)	BRCA1	Pathogenic	17	41226447	41226447	C	A	reviewed by expert panel	ClinGen:CA10581598
Deletion	NM_007294.4(BRCA1):c.4570del (p.Ser1524fs)	BRCA1	Pathogenic	17	41226453	41226453	GA	G	reviewed by expert panel	ClinGen:CA10581599
Duplication	NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter)	BRCA1	Pathogenic	17	41244614	41244615	A	AT	reviewed by expert panel	ClinGen:CA10581600
Duplication	NM_007294.4(BRCA1):c.2805dup (p.Asp936fs)	BRCA1	Pathogenic	17	41244742	41244743	C	CT	reviewed by expert panel	ClinGen:CA10581601
Insertion	NM_007294.4(BRCA1):c.2562_2563insGC (p.Gln855fs)	BRCA1	Pathogenic	17	41244985	41244986	G	GGC	reviewed by expert panel	ClinGen:CA10581602
Insertion	NM_007294.4(BRCA1):c.1881_1882insCC (p.Ser628fs)	BRCA1	Pathogenic	17	41245666	41245667	T	TGG	reviewed by expert panel	ClinGen:CA10581603
single nucleotide variant	NM_007294.4(BRCA1):c.1150G>T (p.Glu384Ter)	BRCA1	Pathogenic	17	41246398	41246398	C	A	reviewed by expert panel	ClinGen:CA10581604