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_000059.4(BRCA2):c.4117dup (p.Met1373fs)	BRCA2	Pathogenic	13	32912608	32912609	T	TA	criteria provided, single submitter	ClinGen:CA658798081
Deletion	NM_000059.4(BRCA2):c.5807del (p.Met1936fs)	BRCA2	Pathogenic	13	32914299	32914299	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798121
Duplication	NM_000059.4(BRCA2):c.4739dup (p.Cys1580fs)	BRCA2	Pathogenic	13	32913230	32913231	T	TG	criteria provided, single submitter	ClinGen:CA658798096
single nucleotide variant	NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913763	32913763	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387784744
Duplication	NM_000059.4(BRCA2):c.6824_6827dup (p.Leu2277fs)	BRCA2	Pathogenic/Likely pathogenic	13	32915315	32915316	G	GAGCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798090
Deletion	NM_000059.4(BRCA2):c.5826_5827del (p.Val1942_Ser1943insTer)	BRCA2	Pathogenic	13	32914317	32914318	GTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798122
Deletion	NM_000059.4(BRCA2):c.6971_6972del (p.His2324fs)	BRCA2	Pathogenic	13	32920997	32920998	CAT	C	criteria provided, single submitter	ClinGen:CA658798100
Deletion	NM_000059.4(BRCA2):c.8191del (p.Gln2731fs)	BRCA2	Pathogenic	13	32937528	32937528	GC	G	criteria provided, single submitter	ClinGen:CA658798132
single nucleotide variant	NM_000059.4(BRCA2):c.8562T>A (p.Tyr2854Ter)	BRCA2	Pathogenic	13	32945167	32945167	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387752802
Insertion	NM_000059.4(BRCA2):c.9270_9271insTATTT (p.Val3091fs)	BRCA2	Pathogenic	13	32968839	32968840	C	CTATTT	criteria provided, single submitter	ClinGen:CA658798089