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.445del (p.Glu149fs)	BRCA1	Pathogenic	17	41251894	41251894	TC	T	reviewed by expert panel	ClinGen:CA16615436
Deletion	NC_000017.11:g.(?_43044295)_(43057135_?)del	BRCA1	Pathogenic	17	41196312	41209152	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43082404)_(43124115_?)del	BRCA1	Pathogenic	17	41234421	41276132	na	na	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2311_2317del (p.Pro773fs)	BRCA1	Pathogenic	17	41245231	41245237	GGTACCAA	G	reviewed by expert panel	ClinGen:CA16615675
Duplication	NM_007294.4(BRCA1):c.1949dup (p.Lys652fs)	BRCA1	Pathogenic	17	41245598	41245599	T	TA	reviewed by expert panel	ClinGen:CA16615679
Deletion	NM_007294.4(BRCA1):c.744del (p.Thr249fs)	BRCA1	Pathogenic	17	41246804	41246804	TG	T	reviewed by expert panel	ClinGen:CA16615693
Deletion	NM_007294.4(BRCA1):c.460_467del (p.Val154fs)	BRCA1	Pathogenic	17	41251872	41251879	GAGTTGGAC	G	reviewed by expert panel	ClinGen:CA16615701
single nucleotide variant	NM_007294.4(BRCA1):c.5259A>T (p.Arg1753Ser)	BRCA1	Likely pathogenic	17	41209087	41209087	T	A	criteria provided, single submitter	ClinGen:CA10591036
Indel	NM_007294.4(BRCA1):c.2130delinsAA (p.Cys712fs)	BRCA1	Pathogenic	17	41245418	41245418	A	TT	reviewed by expert panel	ClinGen:CA16615778
Indel	NM_007294.4(BRCA1):c.796_807delinsA (p.Val266fs)	BRCA1	Pathogenic	17	41246741	41246752	CAAGTTTGAAAC	T	reviewed by expert panel	ClinGen:CA16615785