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_007294.4(BRCA1):c.4505del (p.Pro1502fs)	BRCA1	Pathogenic	17	41226518	41226518	TG	T	criteria provided, single submitter	ClinGen:CA658656637
Deletion	NM_007294.4(BRCA1):c.4282del (p.Ser1428fs)	BRCA1	Pathogenic	17	41234496	41234496	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656655
single nucleotide variant	NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly)	BRCA1	Likely pathogenic	17	41215387	41215387	A	C	criteria provided, single submitter	ClinGen:CA10591229
Deletion	NM_007294.4(BRCA1):c.5080del (p.Glu1694fs)	BRCA1	Pathogenic	17	41215963	41215963	TC	T	criteria provided, single submitter	ClinGen:CA658656679
Deletion	NM_007294.4(BRCA1):c.4862_4871del (p.Asp1621fs)	BRCA1	Pathogenic/Likely pathogenic	17	41223060	41223069	CCCAGCAGTAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656618
Duplication	NM_007294.4(BRCA1):c.4828dup (p.Ser1610fs)	BRCA1	Pathogenic	17	41223102	41223103	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656620
Deletion	NM_007294.4(BRCA1):c.4803del (p.Val1602fs)	BRCA1	Pathogenic	17	41223128	41223128	CT	C	criteria provided, single submitter	ClinGen:CA658656622
Deletion	NM_007294.4(BRCA1):c.3640_3644del (p.Glu1214fs)	BRCA1	Pathogenic	17	41243904	41243908	GTTCTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656686
Indel	NM_007294.4(BRCA1):c.2820_2830delinsAAGATAAGCCAGTTTGATAA (p.Asp940_Cys944delinsGluArgTer)	BRCA1	Pathogenic	17	41244718	41244728	ATTTGGCATTA	TTATCAAACTGGCTTATCTT	criteria provided, single submitter	ClinGen:CA658656660
Deletion	NM_007294.4(BRCA1):c.4486del (p.Ser1496fs)	BRCA1	Pathogenic	17	41226537	41226537	GA	G	criteria provided, single submitter	ClinGen:CA658656638