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
Duplication	NM_007294.4(BRCA1):c.3587dup (p.His1197fs)	BRCA1	Pathogenic	17	41243960	41243961	T	TG	reviewed by expert panel	ClinGen:CA10589738
Deletion	NM_007294.4(BRCA1):c.3571del (p.Ser1191fs)	BRCA1	Pathogenic	17	41243977	41243977	CT	C	reviewed by expert panel	ClinGen:CA10589739
Duplication	NM_007294.4(BRCA1):c.3564dup (p.Ser1189fs)	BRCA1	Pathogenic	17	41243983	41243984	T	TC	reviewed by expert panel	ClinGen:CA10589740
Deletion	NM_007294.4(BRCA1):c.3541_3542del (p.Val1181fs)	BRCA1	Pathogenic	17	41244006	41244007	GAC	G	reviewed by expert panel	ClinGen:CA10589741
Deletion	NM_007294.4(BRCA1):c.3534del (p.Ser1178fs)	BRCA1	Pathogenic	17	41244014	41244014	TG	T	reviewed by expert panel	ClinGen:CA10589742
Deletion	NM_007294.4(BRCA1):c.3512del (p.Lys1171fs)	BRCA1	Pathogenic	17	41244036	41244036	CT	C	reviewed by expert panel	ClinGen:CA10589743
Insertion	NM_007294.4(BRCA1):c.3504_3505insA (p.Asp1169fs)	BRCA1	Pathogenic	17	41244043	41244044	C	CT	reviewed by expert panel	ClinGen:CA10589744
Deletion	NM_007294.4(BRCA1):c.3489_3499del (p.Ser1164fs)	BRCA1	Pathogenic	17	41244049	41244059	TCAGCAAAACTA	T	reviewed by expert panel	ClinGen:CA10589745
Deletion	NM_007294.4(BRCA1):c.3498del (p.Glu1167fs)	BRCA1	Pathogenic	17	41244050	41244050	CA	C	reviewed by expert panel	ClinGen:CA10589746
Deletion	NM_007294.4(BRCA1):c.3482_3492del (p.Glu1161fs)	BRCA1	Pathogenic	17	41244056	41244066	AACTAGTATCTT	A	reviewed by expert panel	ClinGen:CA10589747