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.6685G>T (p.Glu2229Ter)	BRCA2	Pathogenic	13	32915177	32915177	G	T	reviewed by expert panel	ClinGen:CA024292
Insertion	NM_000059.4(BRCA2):c.7380_7381insG (p.Asn2461fs)	BRCA2	Pathogenic	13	32929370	32929371	C	CG	criteria provided, single submitter	ClinGen:CA025051
Deletion	NM_000059.4(BRCA2):c.7588del (p.Gln2530fs)	BRCA2	Pathogenic	13	32930716	32930716	GC	G	reviewed by expert panel	ClinGen:CA025164
Deletion	NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs)	BRCA2	Pathogenic	13	32937316	32937328	GATATGATACGGAA	G	reviewed by expert panel	ClinGen:CA025378
single nucleotide variant	NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter)	BRCA2	Pathogenic	13	32937513	32937513	G	A	reviewed by expert panel	ClinGen:CA025488
Indel	NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs)	BRCA2	Pathogenic	13	32937513	32937524	GGTATGCTGTTA	TT	reviewed by expert panel	ClinGen:CA025487
Deletion	NM_000059.4(BRCA2):c.8953+1del	BRCA2	Pathogenic/Likely pathogenic	13	32953652	32953652	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025888
single nucleotide variant	NM_000059.4(BRCA2):c.8978C>G (p.Ser2993Ter)	BRCA2	Pathogenic	13	32953911	32953911	C	G	reviewed by expert panel	ClinGen:CA025911
single nucleotide variant	NM_000059.4(BRCA2):c.9648+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32971182	32971182	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026248
Deletion	NM_000059.4(BRCA2):c.9728del (p.Pro3243fs)	BRCA2	Pathogenic	13	32972377	32972377	AC	A	reviewed by expert panel	ClinGen:CA026286