家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.5398del (p.Gly1801fs)	BRCA1	Pathogenic	17	41201146	41201146	AG	A	reviewed by expert panel	ClinGen:CA16620419
single nucleotide variant	NM_007294.4(BRCA1):c.4787C>A (p.Ser1596Ter)	BRCA1	Pathogenic	17	41223144	41223144	G	T	reviewed by expert panel	ClinGen:CA10591942
Indel	NM_007294.4(BRCA1):c.4523_4526delinsTGCCCATCATTAGATGAG (p.Trp1508_Tyr1509delinsLeuProIleIleArgTer)	BRCA1	Pathogenic	17	41226497	41226500	TACC	CTCATCTAATGATGGGCA	reviewed by expert panel	ClinGen:CA16620423
Deletion	NM_007294.4(BRCA1):c.4412del (p.Gly1471fs)	BRCA1	Pathogenic	17	41228577	41228577	GC	G	reviewed by expert panel	ClinGen:CA16620424
Deletion	NM_007294.4(BRCA1):c.4392del (p.Pro1464_Ile1465insTer)	BRCA1	Pathogenic	17	41228597	41228597	TA	T	reviewed by expert panel	ClinGen:CA16620425
Deletion	NM_007294.4(BRCA1):c.4137del (p.Glu1380fs)	BRCA1	Pathogenic	17	41243009	41243009	CA	C	reviewed by expert panel	ClinGen:CA16620426
Deletion	NM_007294.4(BRCA1):c.3526del (p.Val1176fs)	BRCA1	Pathogenic	17	41244022	41244022	AC	A	reviewed by expert panel	ClinGen:CA10654941
Deletion	NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs)	BRCA1	Pathogenic	17	41244407	41244410	CTACT	C	reviewed by expert panel	ClinGen:CA16620429
Duplication	NM_007294.4(BRCA1):c.3091dup (p.Ile1031fs)	BRCA1	Pathogenic	17	41244456	41244457	A	AT	reviewed by expert panel	ClinGen:CA16620431
Deletion	NM_007294.4(BRCA1):c.2783del (p.Gly928fs)	BRCA1	Pathogenic	17	41244765	41244765	GC	G	reviewed by expert panel	ClinGen:CA16620433