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.2149G>T (p.Glu717Ter)	BRCA1	Pathogenic	17	41245399	41245399	C	A	reviewed by expert panel	ClinGen:CA10589885
Indel	NM_007294.4(BRCA1):c.2142_2144delinsAG (p.Asn714fs)	BRCA1	Pathogenic	17	41245404	41245406	GTA	CT	reviewed by expert panel	ClinGen:CA10589886
Duplication	NM_007294.4(BRCA1):c.2138_2139dup (p.Asn714fs)	BRCA1	Pathogenic	17	41245408	41245409	T	TTG	reviewed by expert panel	ClinGen:CA10589887
Duplication	NM_007294.4(BRCA1):c.2112_2131dup (p.Lys711fs)	BRCA1	Pathogenic	17	41245416	41245417	T	TTAGTAAAAGAACCAGGTGCA	reviewed by expert panel	ClinGen:CA10589889
Insertion	NM_007294.4(BRCA1):c.2127_2128insGA (p.Thr710fs)	BRCA1	Pathogenic	17	41245420	41245421	T	TTC	reviewed by expert panel	ClinGen:CA10589890
Deletion	NM_007294.4(BRCA1):c.2127del (p.Phe709fs)	BRCA1	Pathogenic	17	41245421	41245421	TA	T	reviewed by expert panel	ClinGen:CA10589891
Insertion	NM_007294.4(BRCA1):c.2125_2126insAGT (p.Phe709Ter)	BRCA1	Pathogenic	17	41245422	41245423	A	AACT	reviewed by expert panel	ClinGen:CA10589892
Deletion	NM_007294.4(BRCA1):c.2105del (p.Lys701_Leu702insTer)	BRCA1	Pathogenic	17	41245443	41245443	TA	T	reviewed by expert panel	ClinGen:CA10589893
Duplication	NM_007294.4(BRCA1):c.2090dup (p.Glu699fs)	BRCA1	Pathogenic	17	41245457	41245458	G	GA	reviewed by expert panel	ClinGen:CA10589894
Deletion	NM_007294.4(BRCA1):c.2086_2089del (p.Thr696fs)	BRCA1	Pathogenic	17	41245459	41245462	AAAGT	A	reviewed by expert panel	ClinGen:CA10589895