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
single nucleotide variant	NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)	BRCA2	Pathogenic	13	32910860	32910860	G	T	reviewed by expert panel	ClinGen:CA015053
Deletion	NM_000059.4(BRCA2):c.2370del (p.Glu790fs)	BRCA2	Pathogenic	13	32910861	32910861	GA	G	reviewed by expert panel	ClinGen:CA015057
Duplication	NM_000059.4(BRCA2):c.2617dup (p.Ile873fs)	BRCA2	Pathogenic	13	32911104	32911105	C	CA	reviewed by expert panel	ClinGen:CA015849
Duplication	NM_000059.4(BRCA2):c.2618dup (p.Thr874fs)	BRCA2	Pathogenic	13	32911109	32911110	A	AT	reviewed by expert panel	ClinGen:CA015865
Deletion	NM_000059.4(BRCA2):c.2692_2696del (p.Glu897_Arg898insTer)	BRCA2	Pathogenic	13	32911181	32911185	TGAAAG	T	reviewed by expert panel	ClinGen:CA016075
Deletion	NM_000059.4(BRCA2):c.2808del (p.Lys936fs)	BRCA2	Pathogenic	13	32911298	32911298	TA	T	reviewed by expert panel	ClinGen:CA016446
Deletion	NM_000059.4(BRCA2):c.3326del (p.Ala1109fs)	BRCA2	Pathogenic	13	32911818	32911818	GC	G	reviewed by expert panel	ClinGen:CA017791
Deletion	NM_000059.4(BRCA2):c.3336del (p.Glu1113fs)	BRCA2	Pathogenic	13	32911828	32911828	CA	C	reviewed by expert panel	ClinGen:CA017804
Duplication	NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs)	BRCA2	Pathogenic	13	32912195	32912196	C	CA	reviewed by expert panel	ClinGen:CA018613
Deletion	NM_000059.4(BRCA2):c.3873del (p.Gln1291fs)	BRCA2	Pathogenic	13	32912364	32912364	CA	C	reviewed by expert panel	ClinGen:CA019049