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.3731_3738del (p.His1244fs)	BRCA1	Pathogenic	17	41243810	41243817	CGGTGCTAT	C	reviewed by expert panel	ClinGen:CA10589728
single nucleotide variant	NM_007294.4(BRCA1):c.3679C>T (p.Gln1227Ter)	BRCA1	Pathogenic	17	41243869	41243869	G	A	reviewed by expert panel	ClinGen:CA10589729
Deletion	NM_007294.4(BRCA1):c.3669del (p.Cys1225fs)	BRCA1	Pathogenic	17	41243879	41243879	GA	G	reviewed by expert panel	ClinGen:CA10589730
Duplication	NM_007294.4(BRCA1):c.3651dup (p.Ser1218Ter)	BRCA1	Pathogenic	17	41243896	41243897	T	TA	reviewed by expert panel	ClinGen:CA10589731
Deletion	NM_007294.4(BRCA1):c.3631_3634del (p.Ser1211fs)	BRCA1	Pathogenic	17	41243914	41243917	GAGGA	G	reviewed by expert panel	ClinGen:CA10589732
Insertion	NM_007294.4(BRCA1):c.3625_3626insA (p.Leu1209fs)	BRCA1	Pathogenic	17	41243922	41243923	A	AT	reviewed by expert panel	ClinGen:CA10589733
Duplication	NM_007294.4(BRCA1):c.3605dup (p.Tyr1202Ter)	BRCA1	Pathogenic	17	41243942	41243943	G	GT	reviewed by expert panel	ClinGen:CA10589734
Deletion	NM_007294.4(BRCA1):c.3604del (p.Tyr1202fs)	BRCA1	Pathogenic	17	41243944	41243944	TA	T	reviewed by expert panel	ClinGen:CA10589735
Deletion	NM_007294.4(BRCA1):c.3583_3590del (p.His1195fs)	BRCA1	Pathogenic	17	41243958	41243965	ATGTGTATG	A	reviewed by expert panel	ClinGen:CA10589736
Deletion	NM_007294.4(BRCA1):c.3582_3589del (p.His1195fs)	BRCA1	Pathogenic	17	41243959	41243966	TGTGTATGG	T	reviewed by expert panel	ClinGen:CA10589737