ウィルムス腫瘍

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
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
single nucleotide variant	NM_000059.4(BRCA2):c.8029G>T (p.Glu2677Ter)	BRCA2	Pathogenic	13	32937368	32937368	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387748934
Deletion	NM_000059.4(BRCA2):c.3270del (p.Met1090fs)	BRCA2	Pathogenic	13	32911762	32911762	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683859
Indel	NM_000059.3(BRCA2):c.3761_3764delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA (p.Glu1254fs)	BRCA2	Pathogenic	13	32912253	32912256	AGGT	TTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683870
Deletion	NM_000059.4(BRCA2):c.3940_3941del (p.Lys1314fs)	BRCA2	Pathogenic	13	32912432	32912433	CAA	C	criteria provided, single submitter	ClinGen:CA658683802