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.3598C>T (p.Gln1200Ter)	BRCA1	Pathogenic	17	41243950	41243950	G	A	reviewed by expert panel	ClinGen:CA002296
single nucleotide variant	NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter)	BRCA1	Pathogenic	17	41243929	41243929	T	A	reviewed by expert panel	ClinGen:CA002314
Indel	NM_007294.4(BRCA1):c.3621_3626delinsAA (p.Leu1209fs)	BRCA1	Pathogenic	17	41243922	41243927	AATTTC	TT	reviewed by expert panel	ClinGen:CA002316
Duplication	NM_007294.4(BRCA1):c.3624dup (p.Leu1209fs)	BRCA1	Pathogenic	17	41243923	41243924	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3741&base_change=ins A,ClinGen:CA268116
Deletion	NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer)	BRCA1	Pathogenic	17	41243922	41243922	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3745&base_change=del T,ClinGen:CA002318,OMIM:113705.0032
Duplication	NM_007294.4(BRCA1):c.3626dup (p.Leu1209fs)	BRCA1	Pathogenic	17	41243921	41243922	T	TA	reviewed by expert panel	ClinGen:CA327883
Deletion	NM_007294.4(BRCA1):c.3628del (p.Glu1210fs)	BRCA1	Pathogenic	17	41243920	41243920	TC	T	reviewed by expert panel	ClinGen:CA002324
single nucleotide variant	NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)	BRCA1	Pathogenic	17	41243908	41243908	C	A	reviewed by expert panel	ClinGen:CA002328
single nucleotide variant	NM_007294.4(BRCA1):c.3647T>G (p.Leu1216Ter)	BRCA1	Pathogenic	17	41243901	41243901	A	C	reviewed by expert panel	ClinGen:CA002334
Duplication	NM_007294.4(BRCA1):c.3649dup (p.Ser1217fs)	BRCA1	Pathogenic	17	41243898	41243899	G	GA	reviewed by expert panel	ClinGen:CA327886