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_000059.3(BRCA2):c.4228_4229insA (p.Thr1410Asnfs)	BRCA2	Pathogenic	13	32912718	32912719	T	TA	reviewed by expert panel	ClinGen:CA10586066
Duplication	NM_000059.3(BRCA2):c.4722dup (p.Asp1575fs)	BRCA2	Pathogenic	13	32913211	32913212	T	TA	reviewed by expert panel	ClinGen:CA10586069
Deletion	NM_000059.4(BRCA2):c.4731del (p.Glu1577fs)	BRCA2	Pathogenic	13	32913222	32913222	GA	G	reviewed by expert panel	ClinGen:CA10586070
Deletion	NM_000059.4(BRCA2):c.5241del (p.Asn1747fs)	BRCA2	Pathogenic	13	32913733	32913733	AC	A	reviewed by expert panel	ClinGen:CA10586072
single nucleotide variant	NM_000059.4(BRCA2):c.5293A>T (p.Lys1765Ter)	BRCA2	Pathogenic	13	32913785	32913785	A	T	reviewed by expert panel	ClinGen:CA10586073
Deletion	NM_000059.4(BRCA2):c.5590_5593del (p.Asp1864fs)	BRCA2	Pathogenic	13	32914081	32914084	AAGAC	A	reviewed by expert panel	ClinGen:CA10586075
Duplication	NM_000059.4(BRCA2):c.7654dup (p.Ile2552fs)	BRCA2	Pathogenic	13	32931910	32931911	T	TA	reviewed by expert panel	ClinGen:CA10586078
Deletion	NM_000059.3(BRCA2):c.8312del (p.Pro2771fs)	BRCA2	Pathogenic	13	32937648	32937648	GC	G	reviewed by expert panel	ClinGen:CA10586084
single nucleotide variant	NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)	BRCA2	Pathogenic/Likely pathogenic	13	32968854	32968854	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586089
Deletion	NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)	BRCA1	Pathogenic	17	41246140	41246141	CTT	C	reviewed by expert panel	ClinGen:CA10586093