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
single nucleotide variant	NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)	BRCA1	Pathogenic	17	41243800	41243800	C	A	reviewed by expert panel	ClinGen:CA002402,OMIM:113705.0013
single nucleotide variant	NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)	BRCA1	Pathogenic	17	41243941	41243941	G	A	reviewed by expert panel	ClinGen:CA002305,OMIM:113705.0012
Deletion	NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)	BRCA1	Pathogenic	17	41244543	41244543	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3121&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):3124&base_change=del A,ClinGen:CA001956,OMIM:113705.0010
Deletion	NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)	BRCA1	Pathogenic	17	41244866	41244867	GTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2800&base_change=del AA,ClinGen:CA001761,OMIM:113705.0008
Deletion	NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)	BRCA1	Pathogenic	17	41246334	41246373	TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1294&base_change=del 40,ClinGen:CA000776,OMIM:113705.0006
single nucleotide variant	NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	BRCA1	Pathogenic	17	41258504	41258504	A	C	reviewed by expert panel	BRCA1-HCI:BRCA1_00099,ClinGen:CA001182,UniProtKB:P38398#VAR_007757,OMIM:113705.0002
single nucleotide variant	NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)	BRCA1	Pathogenic	17	41258495	41258495	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA001250,UniProtKB:P38398#VAR_007758,OMIM:113705.0001