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
Deletion	NM_000059.4(BRCA2):c.204del (p.Lys68fs)	BRCA2	Pathogenic	13	32893348	32893348	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):432&base_change=del A,ClinGen:CA014238
single nucleotide variant	NM_000059.4(BRCA2):c.2064T>G (p.Tyr688Ter)	BRCA2	Pathogenic	13	32910556	32910556	T	G	reviewed by expert panel	ClinGen:CA014258
Deletion	NM_000059.4(BRCA2):c.2094del (p.Gln699fs)	BRCA2	Pathogenic	13	32910586	32910586	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2322&base_change=del A,ClinGen:CA014327
Deletion	NM_000059.4(BRCA2):c.2150del (p.Cys717fs)	BRCA2	Pathogenic	13	32910642	32910642	TG	T	reviewed by expert panel	ClinGen:CA014453
Indel	NM_000059.4(BRCA2):c.215delinsTT (p.Asn72fs)	BRCA2	Pathogenic	13	32893361	32893361	A	TT	reviewed by expert panel	ClinGen:CA325832
single nucleotide variant	NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)	BRCA2	Pathogenic	13	32910716	32910716	C	T	reviewed by expert panel	ClinGen:CA014670
Deletion	NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs)	BRCA2	Pathogenic	13	32910743	32910746	TACTG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2482&base_change=del GACT,ClinGen:CA014764
Deletion	NM_000059.4(BRCA2):c.2259del (p.Gln754fs)	BRCA2	Pathogenic	13	32910749	32910749	CT	C	reviewed by expert panel	ClinGen:CA014791
single nucleotide variant	NM_000059.4(BRCA2):c.227C>G (p.Ser76Ter)	BRCA2	Pathogenic	13	32893373	32893373	C	G	reviewed by expert panel	ClinGen:CA014851
Deletion	NM_000059.4(BRCA2):c.2287del (p.His763fs)	BRCA2	Pathogenic	13	32910779	32910779	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2515&base_change=del C,ClinGen:CA014881