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.7124T>G (p.Leu2375Ter)	BRCA2	Pathogenic	13	32929114	32929114	T	G	reviewed by expert panel	ClinGen:CA10589413
Deletion	NM_000059.4(BRCA2):c.7152del (p.Val2385fs)	BRCA2	Pathogenic	13	32929141	32929141	CA	C	reviewed by expert panel	ClinGen:CA10589414
single nucleotide variant	NM_000059.4(BRCA2):c.7187T>A (p.Leu2396Ter)	BRCA2	Pathogenic	13	32929177	32929177	T	A	reviewed by expert panel	ClinGen:CA10589415
Deletion	NM_000059.4(BRCA2):c.7191del (p.Thr2398fs)	BRCA2	Pathogenic	13	32929180	32929180	AT	A	reviewed by expert panel	ClinGen:CA10589416
single nucleotide variant	NM_000059.4(BRCA2):c.7210A>T (p.Lys2404Ter)	BRCA2	Pathogenic	13	32929200	32929200	A	T	reviewed by expert panel	ClinGen:CA10589417
Deletion	NM_000059.4(BRCA2):c.7212del (p.Val2405fs)	BRCA2	Pathogenic	13	32929200	32929200	CA	C	reviewed by expert panel	ClinGen:CA10589418
Duplication	NM_000059.4(BRCA2):c.7220_7223dup (p.Pro2409fs)	BRCA2	Pathogenic	13	32929209	32929210	G	GTTCC	reviewed by expert panel	ClinGen:CA10589419
Deletion	NM_000059.4(BRCA2):c.7277_7283del (p.Ile2426fs)	BRCA2	Pathogenic	13	32929267	32929273	ATTAACTT	A	reviewed by expert panel	ClinGen:CA10589420
single nucleotide variant	NM_000059.4(BRCA2):c.7283T>A (p.Leu2428Ter)	BRCA2	Pathogenic	13	32929273	32929273	T	A	reviewed by expert panel	ClinGen:CA10589421
Deletion	NM_000059.4(BRCA2):c.7309del (p.Ile2437fs)	BRCA2	Pathogenic	13	32929299	32929299	CA	C	reviewed by expert panel	ClinGen:CA10589422