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.3569del (p.Pro1190fs)	BRCA1	Pathogenic	17	41243979	41243979	AG	A	criteria provided, single submitter	ClinGen:CA658656688
Deletion	NM_007294.4(BRCA1):c.3302_3305del (p.Ser1101fs)	BRCA1	Pathogenic	17	41244243	41244246	ATTAC	A	criteria provided, single submitter	ClinGen:CA658656615
single nucleotide variant	NM_007294.4(BRCA1):c.2488A>T (p.Lys830Ter)	BRCA1	Pathogenic	17	41245060	41245060	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10597024
Deletion	NM_007294.4(BRCA1):c.2164del (p.Val722fs)	BRCA1	Pathogenic	17	41245384	41245384	AC	A	criteria provided, single submitter	ClinGen:CA658656731
Duplication	NM_007294.4(BRCA1):c.1315dup (p.Ala439fs)	BRCA1	Pathogenic	17	41246232	41246233	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656791
Deletion	NM_007294.4(BRCA1):c.951del (p.Gln317fs)	BRCA1	Pathogenic	17	41246597	41246597	GT	G	criteria provided, single submitter	ClinGen:CA658656812
single nucleotide variant	NM_007294.4(BRCA1):c.441+2T>C	BRCA1	Likely pathogenic	17	41256137	41256137	A	G	criteria provided, single submitter	ClinGen:CA10601263
single nucleotide variant	NM_007294.4(BRCA1):c.80+5G>T	BRCA1	Pathogenic	17	41276029	41276029	C	A	criteria provided, single submitter	ClinGen:CA658656698
single nucleotide variant	NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter)	RAD51C	Pathogenic	17	56772423	56772423	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA400340779
Duplication	NM_058216.3(RAD51C):c.432dup (p.Pro145fs)	RAD51C	Pathogenic	17	56774080	56774081	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658640