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.4069G>T (p.Glu1357Ter)	BRCA1	Pathogenic	17	41243479	41243479	C	A	reviewed by expert panel	ClinGen:CA10589695
single nucleotide variant	NM_007294.4(BRCA1):c.4066C>T (p.Gln1356Ter)	BRCA1	Pathogenic	17	41243482	41243482	G	A	reviewed by expert panel	ClinGen:CA10589696
Deletion	NM_007294.4(BRCA1):c.4062_4066del (p.Asn1354fs)	BRCA1	Pathogenic	17	41243482	41243486	TGATTA	T	reviewed by expert panel	ClinGen:CA10589697
Deletion	NM_007294.4(BRCA1):c.4066del (p.Gln1356fs)	BRCA1	Pathogenic	17	41243482	41243482	TG	T	reviewed by expert panel	ClinGen:CA10589698
single nucleotide variant	NM_007294.4(BRCA1):c.4042G>T (p.Gly1348Ter)	BRCA1	Pathogenic	17	41243506	41243506	C	A	reviewed by expert panel	ClinGen:CA10589699
Duplication	NM_007294.4(BRCA1):c.4039dup (p.Arg1347fs)	BRCA1	Pathogenic	17	41243508	41243509	C	CT	reviewed by expert panel	ClinGen:CA10589700
Deletion	NM_007294.4(BRCA1):c.4036del (p.Glu1346fs)	BRCA1	Pathogenic	17	41243512	41243512	TC	T	reviewed by expert panel	ClinGen:CA10589701
single nucleotide variant	NM_007294.4(BRCA1):c.4033G>T (p.Glu1345Ter)	BRCA1	Pathogenic	17	41243515	41243515	C	A	reviewed by expert panel	ClinGen:CA10589702
Insertion	NM_007294.4(BRCA1):c.4016_4017insTT (p.Glu1339fs)	BRCA1	Pathogenic	17	41243531	41243532	T	TAA	reviewed by expert panel	ClinGen:CA10589703
Deletion	NM_007294.4(BRCA1):c.3995_4001del (p.Gly1332fs)	BRCA1	Pathogenic	17	41243547	41243553	ACCAACTC	A	reviewed by expert panel	ClinGen:CA10589704