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.2999del (p.Glu1000fs)	BRCA1	Pathogenic	17	41244549	41244549	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3118&base_change=del A,ClinGen:CA001952
single nucleotide variant	NM_007294.4(BRCA1):c.2T>C (p.Met1Thr)	BRCA1	Pathogenic/Likely pathogenic	17	41276112	41276112	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA001954
single nucleotide variant	NM_007294.4(BRCA1):c.2T>G (p.Met1Arg)	BRCA1	Pathogenic	17	41276112	41276112	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA001955
Deletion	NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)	BRCA1	Pathogenic	17	41244539	41244540	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3127&base_change=del TT,ClinGen:CA001959
Deletion	NM_007294.4(BRCA1):c.3013del (p.Glu1005fs)	BRCA1	Pathogenic	17	41244535	41244535	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3132&base_change=del G,ClinGen:CA001967
Deletion	NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)	BRCA1	Pathogenic	17	41244527	41244530	TTGAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3135&base_change=del CATT,Breast Cancer Information Core (BIC) (BRCA1):3137&base_change=del TTCA,ClinGen:CA001971
single nucleotide variant	NM_007294.4(BRCA1):c.302-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41256279	41256279	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):421-1&base_change=G to A,ClinGen:CA001974
single nucleotide variant	NM_007294.4(BRCA1):c.302-1G>C	BRCA1	Pathogenic	17	41256279	41256279	C	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00121,ClinGen:CA001975
single nucleotide variant	NM_007294.4(BRCA1):c.302-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41256280	41256280	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA001981
Deletion	NM_007294.4(BRCA1):c.302-2del	BRCA1	Pathogenic	17	41256280	41256280	CT	C	reviewed by expert panel	ClinGen:CA001984,Breast Cancer Information Core (BIC) (BRCA1):421-2&base_change=del A