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_007294.4(BRCA1):c.5542C>T (p.Gln1848Ter)	BRCA1	Pathogenic	17	41197745	41197745	G	A	reviewed by expert panel	ClinGen:CA10589583
Deletion	NM_007294.4(BRCA1):c.5536del (p.Gln1846fs)	BRCA1	Pathogenic	17	41197751	41197751	TG	T	reviewed by expert panel	ClinGen:CA10589584
single nucleotide variant	NM_007294.4(BRCA1):c.5535C>G (p.Tyr1845Ter)	BRCA1	Pathogenic	17	41197752	41197752	G	C	reviewed by expert panel	ClinGen:CA10589585
Deletion	NM_007294.4(BRCA1):c.5486_5510del (p.Glu1829fs)	BRCA1	Pathogenic	17	41197777	41197801	CCACTCTCGGGTCACCACAGGTGCCT	C	reviewed by expert panel	ClinGen:CA10589586
Deletion	NM_007294.4(BRCA1):c.5503_5506del (p.Arg1835fs)	BRCA1	Pathogenic	17	41197781	41197784	TCTCG	T	reviewed by expert panel	ClinGen:CA10589587
Duplication	NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs)	BRCA1	Pathogenic	17	41197783	41197784	C	CGG	reviewed by expert panel	ClinGen:CA10589588
Duplication	NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs)	BRCA1	Pathogenic	17	41197783	41197784	C	CG	reviewed by expert panel	ClinGen:CA10589589
Insertion	NM_007294.4(BRCA1):c.5493_5494insTT (p.Val1832fs)	BRCA1	Pathogenic	17	41197793	41197794	C	CAA	reviewed by expert panel	ClinGen:CA10589590
Duplication	NM_007294.4(BRCA1):c.5419dup (p.Ile1807fs)	BRCA1	Pathogenic	17	41199707	41199708	A	AT	reviewed by expert panel	ClinGen:CA10589591
single nucleotide variant	NM_007294.4(BRCA1):c.5390C>G (p.Ser1797Ter)	BRCA1	Pathogenic	17	41201154	41201154	G	C	reviewed by expert panel	ClinGen:CA10589592