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.2650_2651insGGCA (p.Thr884fs)	BRCA1	Pathogenic	17	41244897	41244898	G	GTGCC	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2647_2648insGGCA (p.Ala883fs)	BRCA1	Pathogenic	17	41244900	41244901	G	GTGCC	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2578_2579insTT (p.Thr860fs)	BRCA1	Pathogenic	17	41244969	41244970	G	GAA	reviewed by expert panel	-
Deletion	NM_007294.4(BRCA1):c.2576del (p.Asn859fs)	BRCA1	Pathogenic	17	41244972	41244972	AT	A	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2566_2567insTGATT (p.Tyr856fs)	BRCA1	Pathogenic	17	41244981	41244982	T	TAATCA	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2563_2564insGC (p.Gln855fs)	BRCA1	Pathogenic	17	41244984	41244985	T	TGC	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2557_2558insTTCACTTTTC (p.Asp853fs)	BRCA1	Pathogenic	17	41244990	41244991	T	TGAAAAGTGAA	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2493_2494insGT (p.Pro832fs)	BRCA1	Pathogenic	17	41245054	41245055	G	GAC	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2489_2490insAAGTATCCAT (p.Tyr831fs)	BRCA1	Pathogenic	17	41245058	41245059	C	CATGGATACTT	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2488_2489insCCCCT (p.Lys830fs)	BRCA1	Pathogenic	17	41245059	41245060	T	TAGGGG	reviewed by expert panel	-