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
Deletion	NM_007294.4(BRCA1):c.2205del (p.Glu736fs)	BRCA1	Pathogenic	17	41245343	41245343	CT	C	reviewed by expert panel	ClinGen:CA10589875
Duplication	NM_007294.4(BRCA1):c.2202dup (p.Leu735fs)	BRCA1	Pathogenic	17	41245345	41245346	G	GT	reviewed by expert panel	ClinGen:CA10589876
Duplication	NM_007294.4(BRCA1):c.2198dup (p.Lys734fs)	BRCA1	Pathogenic	17	41245349	41245350	C	CT	reviewed by expert panel	ClinGen:CA10589877
Indel	NM_007294.4(BRCA1):c.2195_2196delinsG (p.Glu732fs)	BRCA1	Pathogenic	17	41245352	41245353	TT	C	reviewed by expert panel	ClinGen:CA10589878
Indel	NM_007294.4(BRCA1):c.2188_2195delinsAAAAAGG (p.Glu730fs)	BRCA1	Pathogenic	17	41245353	41245360	TCTTTTTC	CCTTTTT	reviewed by expert panel	ClinGen:CA10589879
Indel	NM_007294.4(BRCA1):c.2194delinsAA (p.Glu732fs)	BRCA1	Pathogenic	17	41245354	41245354	C	TT	reviewed by expert panel	ClinGen:CA10589880
Deletion	NM_007294.4(BRCA1):c.2193del (p.Glu732fs)	BRCA1	Pathogenic	17	41245355	41245355	CT	C	reviewed by expert panel	ClinGen:CA10589881
Deletion	NM_007294.4(BRCA1):c.2185_2189del (p.Glu729fs)	BRCA1	Pathogenic	17	41245359	41245363	TTCTTC	T	reviewed by expert panel	ClinGen:CA10589882
Insertion	NM_007294.4(BRCA1):c.2161_2162insG (p.Phe721fs)	BRCA1	Pathogenic	17	41245386	41245387	A	AC	reviewed by expert panel	ClinGen:CA10589883
Deletion	NM_007294.4(BRCA1):c.2157_2160del (p.Lys719fs)	BRCA1	Pathogenic	17	41245388	41245391	ATTCT	A	reviewed by expert panel	ClinGen:CA10589884