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_000059.4(BRCA2):c.5141_5144del (p.Tyr1714fs)	BRCA2	Pathogenic	13	32913631	32913634	ATTAT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5369&base_change=del ATTT,ClinGen:CA021372
Deletion	NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)	BRCA2	Pathogenic	13	32913636	32913639	TTGTA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5373&base_change=del GTAT,ClinGen:CA021379
Deletion	NM_000059.4(BRCA2):c.5157_5161del (p.Asn1719fs)	BRCA2	Pathogenic	13	32913647	32913651	TAATTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5385&base_change=del TTCAA,ClinGen:CA021415
Duplication	NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs)	BRCA2	Pathogenic	13	32913648	32913649	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5386&base_change=ins T,ClinGen:CA021422
single nucleotide variant	NM_000059.4(BRCA2):c.5159C>G (p.Ser1720Ter)	BRCA2	Pathogenic	13	32913651	32913651	C	G	reviewed by expert panel	ClinGen:CA021435
single nucleotide variant	NM_000059.4(BRCA2):c.516+1G>A	BRCA2	Pathogenic	13	32900420	32900420	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021479
single nucleotide variant	NM_000059.4(BRCA2):c.516+1G>C	BRCA2	Pathogenic	13	32900420	32900420	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021481
single nucleotide variant	NM_000059.4(BRCA2):c.516+2T>A	BRCA2	Pathogenic	13	32900421	32900421	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021489
Deletion	NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)	BRCA2	Pathogenic	13	32913656	32913657	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5392&base_change=del AG,ClinGen:CA021496
Duplication	NM_000059.4(BRCA2):c.5164_5168dup (p.Ile1724fs)	BRCA2	Pathogenic	13	32913653	32913654	A	AACAGT	reviewed by expert panel	ClinGen:CA021528