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.3217_3218del (p.Leu1072_Gly1073insTer)	BRCA1	Pathogenic	17	41244330	41244331	ACC	A	reviewed by expert panel	ClinGen:CA10589774
Duplication	NM_007294.4(BRCA1):c.3211_3212dup (p.Leu1072fs)	BRCA1	Pathogenic	17	41244335	41244336	T	TTC	reviewed by expert panel	ClinGen:CA10589775
Duplication	NM_007294.4(BRCA1):c.3210dup (p.Glu1071fs)	BRCA1	Pathogenic	17	41244337	41244338	C	CT	reviewed by expert panel	ClinGen:CA10589776
Duplication	NM_007294.4(BRCA1):c.3150_3208dup (p.Ala1070delinsValLeuMetLysTrpAlaProValLeuMetLysTer)	BRCA1	Pathogenic	17	41244339	41244340	G	GCTTGAATGTTTTCATCACTGGAACCTATTTCATTAATACTGGAGCCCACTTCATTAGTA	reviewed by expert panel	ClinGen:CA10589777
Deletion	NM_007294.4(BRCA1):c.3203_3206del (p.Ile1068fs)	BRCA1	Pathogenic	17	41244342	41244345	TTGAA	T	reviewed by expert panel	ClinGen:CA10589778
Deletion	NM_007294.4(BRCA1):c.3205del (p.Gln1069fs)	BRCA1	Pathogenic	17	41244343	41244343	TG	T	reviewed by expert panel	ClinGen:CA10589779
Deletion	NM_007294.4(BRCA1):c.3182del (p.Ile1061fs)	BRCA1	Pathogenic	17	41244366	41244366	TA	T	reviewed by expert panel	ClinGen:CA10589780
Deletion	NM_007294.4(BRCA1):c.3143del (p.Gly1048fs)	BRCA1	Pathogenic	17	41244405	41244405	AC	A	reviewed by expert panel	ClinGen:CA10589781
Deletion	NM_007294.4(BRCA1):c.3117_3120del (p.Ser1040fs)	BRCA1	Pathogenic	17	41244428	41244431	AGCTG	A	reviewed by expert panel	ClinGen:CA10589782
Deletion	NM_007294.4(BRCA1):c.3115del (p.Ala1039fs)	BRCA1	Pathogenic	17	41244433	41244433	GC	G	reviewed by expert panel	ClinGen:CA10589783