ウィルムス腫瘍

腫瘍性疾患

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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
Duplication	NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)	BRCA2	Pathogenic	13	32972540	32972541	C	CATTT	reviewed by expert panel	ClinGen:CA026323
single nucleotide variant	NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)	BRCA2	Pathogenic	13	32905086	32905086	G	T	reviewed by expert panel	ClinGen:CA024893
Deletion	NM_000059.4(BRCA2):c.5390del (p.Ala1797fs)	BRCA2	Pathogenic	13	32913882	32913882	GC	G	reviewed by expert panel	ClinGen:CA022210
single nucleotide variant	NM_000059.4(BRCA2):c.7266T>A (p.Cys2422Ter)	BRCA2	Pathogenic	13	32929256	32929256	T	A	reviewed by expert panel	ClinGen:CA025006
single nucleotide variant	NM_000059.4(BRCA2):c.316+1G>T	BRCA2	Pathogenic	13	32893463	32893463	G	T	reviewed by expert panel	ClinGen:CA017366
Indel	NM_000059.4(BRCA2):c.593_596delinsAGG (p.Leu198_Ala199delinsTer)	BRCA2	Pathogenic	13	32900712	32900715	TAGC	AGG	reviewed by expert panel	ClinGen:CA023386
single nucleotide variant	NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)	BRCA2	Pathogenic	13	32906414	32906414	G	T	reviewed by expert panel	ClinGen:CA025393
Duplication	NM_000059.4(BRCA2):c.1163_1166dup (p.Ser390fs)	BRCA2	Pathogenic	13	32906777	32906778	G	GTACC	reviewed by expert panel	ClinGen:CA194191
Deletion	NM_000059.4(BRCA2):c.1308_1309del (p.Lys437fs)	BRCA2	Pathogenic	13	32906922	32906923	AAG	A	reviewed by expert panel	ClinGen:CA011541
Deletion	NM_000059.4(BRCA2):c.1552del (p.Ala518fs)	BRCA2	Pathogenic	13	32907167	32907167	TG	T	reviewed by expert panel	ClinGen:CA012388