遺伝性乳がん・卵巣がん症候群

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.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
Insertion	NM_007294.4(BRCA1):c.3109_3110insT (p.Lys1037fs)	BRCA1	Pathogenic	17	41244438	41244439	T	TA	reviewed by expert panel	ClinGen:CA10589784
Duplication	NM_007294.4(BRCA1):c.3087_3100dup (p.Asn1034fs)	BRCA1	Pathogenic	17	41244447	41244448	T	TTTTCTCTAATGTTA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3219&base_change=ins TAACATTAGAGAAA,ClinGen:CA002030
Duplication	NM_007294.4(BRCA1):c.3024dup (p.Ser1009fs)	BRCA1	Pathogenic	17	41244523	41244524	A	AC	reviewed by expert panel	ClinGen:CA10589786
Deletion	NM_007294.4(BRCA1):c.3020_3023del (p.Ser1007fs)	BRCA1	Pathogenic	17	41244525	41244528	CATTG	C	reviewed by expert panel	ClinGen:CA10589787