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
Insertion	NM_007294.4(BRCA1):c.3815_3816insT (p.Gln1273fs)	BRCA1	Pathogenic	17	41243732	41243733	G	GA	reviewed by expert panel	-
Duplication	NM_007294.4(BRCA1):c.3780dup (p.Leu1261fs)	BRCA1	Pathogenic	17	41243767	41243768	A	AT	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.3762_3763insTT (p.Asn1255fs)	BRCA1	Pathogenic	17	41243785	41243786	T	TAA	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.3761_3762insT (p.Lys1254fs)	BRCA1	Pathogenic	17	41243786	41243787	C	CA	reviewed by expert panel	-
Deletion	NM_007294.4(BRCA1):c.3758_3759del (p.Leu1252_Ser1253insTer)	BRCA1	Pathogenic	17	41243789	41243790	TAG	T	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.3748_3749insC (p.Glu1250fs)	BRCA1	Pathogenic	17	41243799	41243800	T	TG	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.3730_3731insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG (p.His1244fs)	BRCA1	Pathogenic	17	41243817	41243818	T	TCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.3650_3651insA (p.Ser1217_Ser1218insTer)	BRCA1	Pathogenic	17	41243897	41243898	A	AT	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.3580_3581insT (p.Thr1194fs)	BRCA1	Pathogenic	17	41243967	41243968	G	GA	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.3576_3577insAA (p.Phe1193fs)	BRCA1	Pathogenic	17	41243971	41243972	A	ATT	reviewed by expert panel	-