家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.179del (p.Gln60fs)	BRCA1	Pathogenic	17	41258506	41258506	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):298&base_change=del A,ClinGen:CA001169
Deletion	NM_007294.4(BRCA1):c.1805del (p.Asn602fs)	BRCA1	Pathogenic	17	41245743	41245743	AT	A	reviewed by expert panel	ClinGen:CA001173
single nucleotide variant	NM_007294.4(BRCA1):c.1808C>G (p.Ser603Ter)	BRCA1	Pathogenic	17	41245740	41245740	G	C	reviewed by expert panel	ClinGen:CA001174
Deletion	NM_007294.4(BRCA1):c.1817del (p.Pro606fs)	BRCA1	Pathogenic	17	41245731	41245731	AG	A	reviewed by expert panel	ClinGen:CA001177
single nucleotide variant	NM_007294.4(BRCA1):c.1819A>T (p.Lys607Ter)	BRCA1	Pathogenic	17	41245729	41245729	T	A	reviewed by expert panel	ClinGen:CA001178
single nucleotide variant	NM_007294.4(BRCA1):c.181T>A (p.Cys61Ser)	BRCA1	Pathogenic	17	41258504	41258504	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA001180
single nucleotide variant	NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41258504	41258504	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA001181
Deletion	NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)	BRCA1	Pathogenic	17	41245722	41245725	ATTCT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1492&base_change=del AGAA,Breast Cancer Information Core (BIC) (BRCA1):1940&base_change=del AAAG,Breast Cancer Information Core (BIC) (BRCA1):1942&base_change=del AGAA,ClinGen:CA001184
Deletion	NM_007294.4(BRCA1):c.1823del (p.Lys608fs)	BRCA1	Pathogenic	17	41245725	41245725	CT	C	reviewed by expert panel	ClinGen:CA001185
single nucleotide variant	NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)	BRCA1	Pathogenic	17	41258503	41258503	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA001191