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_007294.4(BRCA1):c.1485del (p.Glu495fs)	BRCA1	Likely pathogenic	17	41246063	41246063	GC	G	criteria provided, single submitter	ClinGen:CA658656787
Deletion	NM_000059.4(BRCA2):c.367_370del (p.Lys123fs)	BRCA2	Pathogenic	13	32899263	32899266	TAAAA	T	criteria provided, single submitter	ClinGen:CA658683810
Indel	NM_000059.3(BRCA2):c.369_371delinsTA (p.Lys123fs)	BRCA2	Pathogenic	13	32899265	32899267	AAT	TA	criteria provided, single submitter	ClinGen:CA658683811
Deletion	NM_000059.4(BRCA2):c.7504_7511del (p.Arg2502fs)	BRCA2	Pathogenic	13	32930633	32930640	ACGCGTCTT	A	criteria provided, single submitter	ClinGen:CA658683850
single nucleotide variant	NM_000059.4(BRCA2):c.3870C>A (p.Cys1290Ter)	BRCA2	Pathogenic	13	32912362	32912362	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387778704
Duplication	NM_000059.4(BRCA2):c.5962dup (p.Val1988fs)	BRCA2	Pathogenic	13	32914452	32914453	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683863
Deletion	NM_000059.4(BRCA2):c.8992_9025del (p.Ser2998fs)	BRCA2	Pathogenic	13	32953924	32953957	ATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT	A	criteria provided, single submitter	ClinGen:CA658683857
Duplication	NM_000059.4(BRCA2):c.6408_6411dup (p.Val2138fs)	BRCA2	Pathogenic	13	32914898	32914899	T	TTAAA	criteria provided, single submitter	ClinGen:CA658683804
single nucleotide variant	NM_000059.4(BRCA2):c.2279T>G (p.Leu760Ter)	BRCA2	Pathogenic	13	32910771	32910771	T	G	criteria provided, single submitter	ClinGen:CA387771129
Deletion	NM_000059.4(BRCA2):c.2454_2457del (p.Asn818fs)	BRCA2	Pathogenic	13	32910944	32910947	GAATC	G	criteria provided, single submitter	ClinGen:CA658683833