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.212G>A (p.Arg71Lys)	BRCA1	Pathogenic	17	41258473	41258473	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA001420,UniProtKB:P38398#VAR_020681
single nucleotide variant	NM_007294.4(BRCA1):c.213-1G>A	BRCA1	Pathogenic	17	41256974	41256974	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):332-1&base_change=G to A,ClinGen:CA001430
single nucleotide variant	NM_007294.4(BRCA1):c.213-2A>C	BRCA1	Pathogenic	17	41256975	41256975	T	G	criteria provided, single submitter	ClinGen:CA001431
Deletion	NM_007294.4(BRCA1):c.2142del (p.Asn714fs)	BRCA1	Pathogenic	17	41245406	41245406	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2261&base_change=del T,ClinGen:CA001438
single nucleotide variant	NM_007294.4(BRCA1):c.2155A>T (p.Lys719Ter)	BRCA1	Pathogenic	17	41245393	41245393	T	A	reviewed by expert panel	ClinGen:CA001443
Deletion	NM_007294.4(BRCA1):c.2155_2168del (p.Lys719fs)	BRCA1	Pathogenic	17	41245380	41245393	ATTGACAAATTCTTT	A	reviewed by expert panel	ClinGen:CA001441
Duplication	NM_007294.4(BRCA1):c.2157dup (p.Glu720fs)	BRCA1	Pathogenic	17	41245390	41245391	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2274&base_change=ins A,ClinGen:CA267881
Deletion	NM_007294.4(BRCA1):c.2166del (p.Asn723fs)	BRCA1	Pathogenic	17	41245382	41245382	TG	T	reviewed by expert panel	ClinGen:CA001446
Deletion	NM_007294.4(BRCA1):c.2174del (p.Ser725fs)	BRCA1	Pathogenic	17	41245374	41245374	GC	G	reviewed by expert panel	ClinGen:CA001451
Deletion	NM_007294.4(BRCA1):c.2176_2177del (p.Leu726fs)	BRCA1	Pathogenic	17	41245371	41245372	AAG	A	reviewed by expert panel	ClinGen:CA001453