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.2666dup (p.Gly890fs)	BRCA1	Pathogenic	17	41244881	41244882	A	AG	reviewed by expert panel	ClinGen:CA10580607
Duplication	NM_007294.4(BRCA1):c.2433dup (p.Lys812fs)	BRCA1	Pathogenic	17	41245114	41245115	T	TG	reviewed by expert panel	ClinGen:CA10580615
Deletion	NM_007294.4(BRCA1):c.2402del (p.Cys801fs)	BRCA1	Pathogenic	17	41245146	41245146	AC	A	reviewed by expert panel	ClinGen:CA10580617
Indel	NM_007294.4(BRCA1):c.2386_2387delinsT (p.Lys795_Thr796insTer)	BRCA1	Pathogenic	17	41245161	41245162	GT	A	reviewed by expert panel	ClinGen:CA10580619
Deletion	NM_007294.4(BRCA1):c.2362del (p.Val788fs)	BRCA1	Pathogenic	17	41245186	41245186	AC	A	reviewed by expert panel	ClinGen:CA10580621
Deletion	NM_007294.4(BRCA1):c.2289del (p.Ser763_Val764insTer)	BRCA1	Pathogenic	17	41245259	41245259	CA	C	reviewed by expert panel	ClinGen:CA10580623
single nucleotide variant	NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter)	BRCA1	Pathogenic	17	41245447	41245447	T	A	reviewed by expert panel	ClinGen:CA10580635
Duplication	NM_007294.4(BRCA1):c.1836dup (p.Arg613fs)	BRCA1	Pathogenic	17	41245711	41245712	T	TC	reviewed by expert panel	ClinGen:CA10580647
Indel	NM_007294.4(BRCA1):c.1768_1770delinsC (p.Ser590fs)	BRCA1	Pathogenic	17	41245778	41245780	ACT	G	reviewed by expert panel	ClinGen:CA10580652
Indel	NM_007294.4(BRCA1):c.1542_1550delinsCG (p.Glu515fs)	BRCA1	Pathogenic	17	41245998	41246006	AAATCCTCA	CG	reviewed by expert panel	ClinGen:CA10580661