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.7878_7881dup (p.Ile2628fs)	BRCA2	Pathogenic	13	32936731	32936732	G	GGATC	reviewed by expert panel	ClinGen:CA10589455
single nucleotide variant	NM_000059.4(BRCA2):c.7887G>A (p.Trp2629Ter)	BRCA2	Pathogenic	13	32936741	32936741	G	A	reviewed by expert panel	ClinGen:CA10589456
Insertion	NM_000059.4(BRCA2):c.7911_7912insGAAA (p.Phe2638fs)	BRCA2	Pathogenic	13	32936765	32936766	C	CGAAA	reviewed by expert panel	ClinGen:CA10589457
single nucleotide variant	NM_000059.4(BRCA2):c.7933A>T (p.Arg2645Ter)	BRCA2	Pathogenic	13	32936787	32936787	A	T	reviewed by expert panel	ClinGen:CA10589458
Duplication	NM_000059.4(BRCA2):c.7947dup (p.Glu2650fs)	BRCA2	Pathogenic	13	32936800	32936801	C	CA	reviewed by expert panel	ClinGen:CA10589459
single nucleotide variant	NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter)	BRCA2	Pathogenic	13	32936828	32936828	C	A	reviewed by expert panel	ClinGen:CA10589460
Duplication	NM_000059.4(BRCA2):c.7984dup (p.Thr2662fs)	BRCA2	Pathogenic	13	32937322	32937323	T	TA	reviewed by expert panel	ClinGen:CA10589461
Deletion	NM_000059.4(BRCA2):c.7987del (p.Glu2663fs)	BRCA2	Pathogenic	13	32937325	32937325	CG	C	reviewed by expert panel	ClinGen:CA10589462
Deletion	NM_000059.4(BRCA2):c.8008_8030del (p.Ser2670fs)	BRCA2	Pathogenic	13	32937345	32937367	AGATCGGCTATAAAAAAGATAATG	A	reviewed by expert panel	ClinGen:CA10589463
Duplication	NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs)	BRCA2	Pathogenic	13	32937354	32937355	T	TA	reviewed by expert panel	ClinGen:CA10589464