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.1379del (p.Ile460fs)	BRCA1	Pathogenic	17	41246169	41246169	TA	T	reviewed by expert panel	ClinGen:CA10589941
Duplication	NM_007294.4(BRCA1):c.1378dup (p.Ile460fs)	BRCA1	Pathogenic	17	41246169	41246170	A	AT	reviewed by expert panel	ClinGen:CA10589942
single nucleotide variant	NM_007294.4(BRCA1):c.1375A>T (p.Lys459Ter)	BRCA1	Pathogenic	17	41246173	41246173	T	A	reviewed by expert panel	ClinGen:CA10589943
Deletion	NM_007294.4(BRCA1):c.1354del (p.Ser451_Val452insTer)	BRCA1	Pathogenic	17	41246194	41246194	AC	A	reviewed by expert panel	ClinGen:CA10589944
Deletion	NM_007294.4(BRCA1):c.1347del (p.Lys450fs)	BRCA1	Pathogenic	17	41246201	41246201	TG	T	reviewed by expert panel	ClinGen:CA10589945
Deletion	NM_007294.4(BRCA1):c.1327_1345del (p.Lys443fs)	BRCA1	Pathogenic	17	41246203	41246221	GAGTGAACTCTTTCACTTTT	G	reviewed by expert panel	ClinGen:CA10589946
Deletion	NM_007294.4(BRCA1):c.1336del (p.Arg446fs)	BRCA1	Pathogenic	17	41246212	41246212	CT	C	reviewed by expert panel	ClinGen:CA10589947
Deletion	NM_007294.4(BRCA1):c.1333del (p.Glu445fs)	BRCA1	Pathogenic	17	41246215	41246215	TC	T	reviewed by expert panel	ClinGen:CA10589948
Indel	NM_007294.4(BRCA1):c.1303_1309delinsAAAGT (p.Asp435fs)	BRCA1	Pathogenic	17	41246239	41246245	GAGGATC	ACTTT	reviewed by expert panel	ClinGen:CA10589949
Duplication	NM_007294.4(BRCA1):c.1288dup (p.Asp430fs)	BRCA1	Pathogenic	17	41246259	41246260	T	TC	reviewed by expert panel	ClinGen:CA10589950