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.7218dup (p.Val2407fs)	BRCA2	Pathogenic	13	32929205	32929206	C	CT	reviewed by expert panel	ClinGen:CA10579728
Deletion	NM_000059.4(BRCA2):c.7341_7342del (p.Asn2447fs)	BRCA2	Pathogenic	13	32929330	32929331	AAT	A	reviewed by expert panel	ClinGen:CA10579733
single nucleotide variant	NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)	BRCA2	Pathogenic	13	32929356	32929356	C	T	reviewed by expert panel	ClinGen:CA10579735
Deletion	NM_000059.4(BRCA2):c.7436-2_7437del	BRCA2	Likely pathogenic	13	32930560	32930563	TGATA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579738
single nucleotide variant	NM_000059.4(BRCA2):c.7516C>T (p.Gln2506Ter)	BRCA2	Pathogenic	13	32930645	32930645	C	T	reviewed by expert panel	ClinGen:CA10579742
Deletion	NM_000059.4(BRCA2):c.7602del (p.Cys2535fs)	BRCA2	Pathogenic	13	32930731	32930731	CG	C	reviewed by expert panel	ClinGen:CA10579745
Indel	NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs)	BRCA2	Pathogenic	13	32932023	32932025	ATA	TT	reviewed by expert panel	ClinGen:CA090898
single nucleotide variant	NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn)	BRCA2	Likely pathogenic	13	32936734	32936734	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579758
Deletion	NM_000059.4(BRCA2):c.8009del (p.Ser2670fs)	BRCA2	Pathogenic	13	32937348	32937348	TC	T	reviewed by expert panel	ClinGen:CA10579764
single nucleotide variant	NM_000059.4(BRCA2):c.8165C>A (p.Thr2722Lys)	BRCA2	Pathogenic/Likely pathogenic	13	32937504	32937504	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579769