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.6074_6075del (p.Leu2025fs)	BRCA2	Pathogenic	13	32914565	32914566	GCT	G	reviewed by expert panel	ClinGen:CA16614332
Deletion	NM_000059.4(BRCA2):c.6574del (p.Met2192fs)	BRCA2	Pathogenic	13	32915062	32915062	TA	T	reviewed by expert panel	ClinGen:CA16614340
Indel	NM_000059.3(BRCA2):c.7115_7120delinsGC (p.Ser2372fs)	BRCA2	Pathogenic	13	32929105	32929110	CAAGCA	GC	reviewed by expert panel	ClinGen:CA16614348
single nucleotide variant	NM_000059.4(BRCA2):c.4983T>G (p.Tyr1661Ter)	BRCA2	Pathogenic	13	32913475	32913475	T	G	reviewed by expert panel	ClinGen:CA16616709
single nucleotide variant	NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)	WT1	Pathogenic/Likely pathogenic	11	32413565	32413565	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619314
Deletion	NM_000059.4(BRCA2):c.-39-1_-39del	BRCA2	Likely pathogenic	13	32890557	32890558	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6940297
Deletion	NM_000059.4(BRCA2):c.15del (p.Glu7fs)	BRCA2	Pathogenic	13	32890611	32890611	TC	T	reviewed by expert panel	ClinGen:CA16619631
Duplication	NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)	BRCA2	Pathogenic	13	32893268	32893269	C	CCTATAATT	reviewed by expert panel	ClinGen:CA16619636
Deletion	NM_000059.4(BRCA2):c.162del (p.Asn54fs)	BRCA2	Pathogenic	13	32893308	32893308	AC	A	reviewed by expert panel	ClinGen:CA16619637
Deletion	NM_000059.4(BRCA2):c.221del (p.Leu74fs)	BRCA2	Pathogenic	13	32893367	32893367	CT	C	reviewed by expert panel	ClinGen:CA16619639