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
Duplication	NM_007294.4(BRCA1):c.4146_4155dup (p.Ser1386fs)	BRCA1	Pathogenic	17	41242990	41242991	A	ATAGCCCTGAG	reviewed by expert panel	ClinGen:CA10589685
Deletion	NM_007294.4(BRCA1):c.4137_4138del (p.Glu1380fs)	BRCA1	Pathogenic	17	41243008	41243009	TCA	T	reviewed by expert panel	ClinGen:CA10589686
Deletion	NM_007294.4(BRCA1):c.4126_4129del (p.Thr1376fs)	BRCA1	Pathogenic	17	41243017	41243020	CTTGT	C	reviewed by expert panel	ClinGen:CA10589687
Deletion	NM_007294.4(BRCA1):c.4129del (p.Ser1377fs)	BRCA1	Pathogenic	17	41243017	41243017	CT	C	reviewed by expert panel	ClinGen:CA10589688
Deletion	NM_007294.4(BRCA1):c.4127del (p.Thr1376fs)	BRCA1	Pathogenic	17	41243019	41243019	TG	T	reviewed by expert panel	ClinGen:CA10589689
Deletion	NM_007294.4(BRCA1):c.4116del (p.Cys1372fs)	BRCA1	Pathogenic	17	41243030	41243030	CA	C	reviewed by expert panel	ClinGen:CA10589690
Insertion	NM_007294.4(BRCA1):c.4107_4108insATCT (p.Ser1370fs)	BRCA1	Pathogenic	17	41243038	41243039	A	AAGAT	reviewed by expert panel	ClinGen:CA10589691
Deletion	NM_007294.4(BRCA1):c.4074_4090del (p.Gln1359fs)	BRCA1	Pathogenic	17	41243458	41243474	TTTGAATCCATGCTTTGC	T	reviewed by expert panel	ClinGen:CA10589692
Deletion	NM_007294.4(BRCA1):c.4079del (p.Ser1360fs)	BRCA1	Pathogenic	17	41243469	41243469	GC	G	reviewed by expert panel	ClinGen:CA10589693
Deletion	NM_007294.4(BRCA1):c.4071del (p.Glu1358fs)	BRCA1	Pathogenic	17	41243477	41243477	CT	C	reviewed by expert panel	ClinGen:CA10589694