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.4460_4461del (p.Lys1487fs)	BRCA2	Pathogenic	13	32912951	32912952	TAA	T	reviewed by expert panel	ClinGen:CA10579618
Deletion	NM_000059.4(BRCA2):c.4633del (p.Leu1545fs)	BRCA2	Pathogenic	13	32913124	32913124	AC	A	reviewed by expert panel	ClinGen:CA10579626
Deletion	NM_000059.4(BRCA2):c.5076del (p.Trp1692fs)	BRCA2	Pathogenic	13	32913567	32913567	TG	T	reviewed by expert panel	ClinGen:CA10579645
Deletion	NM_000059.4(BRCA2):c.5308del (p.Ser1770fs)	BRCA2	Pathogenic	13	32913799	32913799	AT	A	reviewed by expert panel	ClinGen:CA10579652
Deletion	NM_000059.4(BRCA2):c.5334_5340del (p.Asn1778fs)	BRCA2	Pathogenic	13	32913823	32913829	AGAATGTT	A	reviewed by expert panel	ClinGen:CA10579653
Deletion	NM_000059.4(BRCA2):c.5357del (p.Ser1786fs)	BRCA2	Pathogenic	13	32913849	32913849	AG	A	reviewed by expert panel	ClinGen:CA10579654
Deletion	NM_000059.4(BRCA2):c.5630del (p.Asn1877fs)	BRCA2	Pathogenic	13	32914119	32914119	GA	G	reviewed by expert panel	ClinGen:CA10579658
Deletion	NM_000059.4(BRCA2):c.5669_5673del (p.Met1890fs)	BRCA2	Pathogenic	13	32914160	32914164	TATGGC	T	reviewed by expert panel	ClinGen:CA10579660
single nucleotide variant	NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter)	BRCA2	Pathogenic	13	32914191	32914191	C	G	reviewed by expert panel	ClinGen:CA10579664
Deletion	NM_000059.4(BRCA2):c.6039del (p.Val2014fs)	BRCA2	Pathogenic	13	32914529	32914529	CA	C	reviewed by expert panel	ClinGen:CA10579677