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.1162A>T (p.Arg388Ter)	BRCA1	Pathogenic	17	41246386	41246386	T	A	criteria provided, single submitter	ClinGen:CA10599729
single nucleotide variant	NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe)	BRCA1	Likely pathogenic	17	41276034	41276034	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601996
Duplication	NM_007294.4(BRCA1):c.706dup (p.Thr236fs)	BRCA1	Pathogenic	17	41246841	41246842	G	GT	criteria provided, single submitter	ClinGen:CA658656636
single nucleotide variant	NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)	BRCA1	Pathogenic	17	41267760	41267760	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601926
Duplication	NM_007294.4(BRCA1):c.5296dup (p.Ile1766fs)	BRCA1	Pathogenic	17	41203115	41203116	A	AT	criteria provided, single submitter	ClinGen:CA658656653
Deletion	NM_007294.4(BRCA1):c.5059del (p.Val1687fs)	BRCA1	Pathogenic	17	41219640	41219640	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656683
Deletion	NM_007294.4(BRCA1):c.3569del (p.Pro1190fs)	BRCA1	Pathogenic	17	41243979	41243979	AG	A	criteria provided, single submitter	ClinGen:CA658656688
Deletion	NM_007294.4(BRCA1):c.3302_3305del (p.Ser1101fs)	BRCA1	Pathogenic	17	41244243	41244246	ATTAC	A	criteria provided, single submitter	ClinGen:CA658656615
single nucleotide variant	NM_007294.4(BRCA1):c.2488A>T (p.Lys830Ter)	BRCA1	Pathogenic	17	41245060	41245060	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10597024
Deletion	NM_007294.4(BRCA1):c.2164del (p.Val722fs)	BRCA1	Pathogenic	17	41245384	41245384	AC	A	criteria provided, single submitter	ClinGen:CA658656731