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.5445G>A (p.Trp1815Ter)	BRCA1	Pathogenic	17	41199682	41199682	C	T	reviewed by expert panel	ClinGen:CA003600
single nucleotide variant	NM_007294.4(BRCA1):c.5449G>T (p.Glu1817Ter)	BRCA1	Pathogenic	17	41199678	41199678	C	A	reviewed by expert panel	ClinGen:CA003602
single nucleotide variant	NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)	BRCA1	Pathogenic/Likely pathogenic	17	41199660	41199660	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003618
single nucleotide variant	NM_007294.4(BRCA1):c.547+1G>T	BRCA1	Pathogenic	17	41251791	41251791	C	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):666+1&base_change=G to T,ClinGen:CA003633
Deletion	NM_007294.4(BRCA1):c.5470_5477delATTGGGCA	BRCA1	Pathogenic	17	41197810	41197817	CTGCCCAAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5589&base_change=del ATTGGGCA,ClinGen:CA003628
Deletion	NM_007294.4(BRCA1):c.5483del (p.Cys1828fs)	BRCA1	Pathogenic	17	41197804	41197804	AC	A	reviewed by expert panel	ClinGen:CA003652
Deletion	NM_007294.4(BRCA1):c.5492del (p.Pro1831fs)	BRCA1	Pathogenic	17	41197795	41197795	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5611&base_change=del C,ClinGen:CA003663
Indel	NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)	BRCA1	Pathogenic	17	41197781	41197791	CTCGGGTCACC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5615&base_change=del GGTGACCCGAG ins A,ClinGen:CA003665
single nucleotide variant	NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)	BRCA1	Pathogenic/Likely pathogenic	17	41197790	41197790	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003667
Deletion	NM_007294.4(BRCA1):c.5497_5506del (p.Val1833fs)	BRCA1	Pathogenic	17	41197781	41197790	TCTCGGGTCAC	T	reviewed by expert panel	ClinGen:CA003666