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.6575_6588del (p.Met2192fs)	BRCA2	Pathogenic	13	32915064	32915077	AAAATGGAAATTGGT	A	reviewed by expert panel	ClinGen:CA10589393
Duplication	NM_000059.4(BRCA2):c.6580dup (p.Ile2194fs)	BRCA2	Pathogenic	13	32915069	32915070	G	GA	reviewed by expert panel	ClinGen:CA10589394
Duplication	NM_000059.4(BRCA2):c.6585dup (p.Lys2196Ter)	BRCA2	Pathogenic	13	32915076	32915077	G	GT	reviewed by expert panel	ClinGen:CA10589395
Duplication	NM_000059.4(BRCA2):c.6625dup (p.Ile2209fs)	BRCA2	Pathogenic	13	32915116	32915117	T	TA	reviewed by expert panel	ClinGen:CA10589396
Deletion	NM_000059.4(BRCA2):c.6645_6648del (p.Thr2214_Tyr2215insTer)	BRCA2	Pathogenic	13	32915137	32915140	ACTCC	A	reviewed by expert panel	ClinGen:CA10589397
single nucleotide variant	NM_000059.4(BRCA2):c.6676G>T (p.Glu2226Ter)	BRCA2	Pathogenic	13	32915168	32915168	G	T	reviewed by expert panel	ClinGen:CA10589398
Deletion	NM_000059.4(BRCA2):c.6698del (p.Ala2233fs)	BRCA2	Pathogenic	13	32915190	32915190	GC	G	reviewed by expert panel	ClinGen:CA10589399
Duplication	NM_000059.4(BRCA2):c.6722_6723dup (p.Asp2242fs)	BRCA2	Pathogenic	13	32915212	32915213	G	GAC	reviewed by expert panel	ClinGen:CA10589400
single nucleotide variant	NM_000059.4(BRCA2):c.6730A>T (p.Lys2244Ter)	BRCA2	Pathogenic	13	32915222	32915222	A	T	reviewed by expert panel	ClinGen:CA10589401
Deletion	NM_000059.4(BRCA2):c.6753_6754del (p.Leu2253fs)	BRCA2	Pathogenic	13	32915245	32915246	ATT	A	reviewed by expert panel	ClinGen:CA10589402