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.1212del (p.Asn404fs)	BRCA2	Pathogenic	13	32906827	32906827	AT	A	reviewed by expert panel	ClinGen:CA10588560
Deletion	NM_000059.4(BRCA2):c.5120del (p.Thr1707fs)	BRCA2	Pathogenic	13	32913612	32913612	AC	A	reviewed by expert panel	ClinGen:CA10588565
Deletion	NM_000059.4(BRCA2):c.6481_6484del (p.Asp2161fs)	BRCA2	Pathogenic	13	32914972	32914975	AAGAC	A	reviewed by expert panel	ClinGen:CA10588566
Deletion	NM_000059.4(BRCA2):c.6727del (p.Ser2243fs)	BRCA2	Pathogenic	13	32915218	32915218	AT	A	reviewed by expert panel	ClinGen:CA10588567
Indel	NM_000059.4(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs)	BRCA2	Pathogenic	13	32929200	32929206	AAAGTCT	TGTAG	reviewed by expert panel	ClinGen:CA10588568
Deletion	NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)	BRCA1	Likely pathogenic	17	41197718	41197718	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588652
Deletion	NM_007294.4(BRCA1):c.848_879del (p.Ser282_Leu283insTer)	BRCA1	Pathogenic	17	41246669	41246700	TAGTGAGTAATAAACTGCTGTTCTCATGCTGTA	T	reviewed by expert panel	ClinGen:CA10588656
Indel	NM_000059.3(BRCA2):c.48_50delinsATCGATCGAT (p.Thr17fs)	BRCA2	Pathogenic	13	32890645	32890647	GAC	ATCGATCGAT	reviewed by expert panel	ClinGen:CA10589001
Duplication	NM_000059.4(BRCA2):c.48dup (p.Thr17fs)	BRCA2	Pathogenic	13	32890644	32890645	A	AG	reviewed by expert panel	ClinGen:CA10589002
Deletion	NM_000059.4(BRCA2):c.52_61del (p.Arg18fs)	BRCA2	Pathogenic	13	32890646	32890655	GACACGCTGCA	G	reviewed by expert panel	ClinGen:CA10589003