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.8777T>A (p.Leu2926Ter)	BRCA2	Pathogenic	13	32953476	32953476	T	A	reviewed by expert panel	ClinGen:CA10589516
Deletion	NM_000059.4(BRCA2):c.8798_8802del (p.Arg2933fs)	BRCA2	Pathogenic	13	32953496	32953500	CAGGCA	C	reviewed by expert panel	ClinGen:CA10589517
Deletion	NM_000059.4(BRCA2):c.8800del (p.Gln2934fs)	BRCA2	Pathogenic	13	32953499	32953499	GC	G	reviewed by expert panel	ClinGen:CA10589518
Deletion	NM_000059.4(BRCA2):c.8830del (p.Ile2944fs)	BRCA2	Pathogenic	13	32953529	32953529	GA	G	reviewed by expert panel	ClinGen:CA10589519
Duplication	NM_000059.4(BRCA2):c.8850_8851dup (p.Ala2951fs)	BRCA2	Pathogenic	13	32953548	32953549	A	AGG	reviewed by expert panel	ClinGen:CA10589520
Deletion	NM_000059.4(BRCA2):c.8887del (p.Ser2963fs)	BRCA2	Pathogenic	13	32953586	32953586	AT	A	reviewed by expert panel	ClinGen:CA10589521
single nucleotide variant	NM_000059.4(BRCA2):c.8888C>G (p.Ser2963Ter)	BRCA2	Pathogenic	13	32953587	32953587	C	G	reviewed by expert panel	ClinGen:CA10589522
single nucleotide variant	NM_000059.4(BRCA2):c.8910G>A (p.Trp2970Ter)	BRCA2	Pathogenic	13	32953609	32953609	G	A	reviewed by expert panel	ClinGen:CA10589523
single nucleotide variant	NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter)	BRCA2	Pathogenic	13	32953614	32953614	T	A	reviewed by expert panel	ClinGen:CA10589524
Duplication	NM_000059.4(BRCA2):c.8919dup (p.Ile2974fs)	BRCA2	Pathogenic	13	32953617	32953618	G	GT	reviewed by expert panel	ClinGen:CA10589525