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.8536G>T (p.Glu2846Ter)	BRCA2	Pathogenic	13	32945141	32945141	G	T	reviewed by expert panel	ClinGen:CA10589506
Deletion	NM_000059.4(BRCA2):c.8562del (p.Lys2853_Tyr2854insTer)	BRCA2	Pathogenic	13	32945167	32945167	AT	A	reviewed by expert panel	ClinGen:CA10589507
Deletion	NM_000059.4(BRCA2):c.8566del (p.Glu2856fs)	BRCA2	Pathogenic	13	32945170	32945170	TG	T	reviewed by expert panel	ClinGen:CA10589508
Deletion	NM_000059.4(BRCA2):c.8572del (p.Gln2858fs)	BRCA2	Pathogenic	13	32945175	32945175	GC	G	reviewed by expert panel	ClinGen:CA10589509
Deletion	NM_000059.4(BRCA2):c.8645_8646del (p.Lys2882fs)	BRCA2	Pathogenic	13	32950817	32950818	CAA	C	reviewed by expert panel	ClinGen:CA10589510
Deletion	NM_000059.4(BRCA2):c.8646del (p.Lys2882fs)	BRCA2	Pathogenic	13	32950817	32950817	CA	C	reviewed by expert panel	ClinGen:CA10589511
single nucleotide variant	NM_000059.4(BRCA2):c.8652T>G (p.Tyr2884Ter)	BRCA2	Pathogenic	13	32950826	32950826	T	G	reviewed by expert panel	ClinGen:CA10589512
Duplication	NM_000059.4(BRCA2):c.8669dup (p.Thr2891fs)	BRCA2	Pathogenic	13	32950842	32950843	C	CT	reviewed by expert panel	ClinGen:CA10589513
Insertion	NM_000059.4(BRCA2):c.8710_8711insAG (p.Leu2904fs)	BRCA2	Pathogenic	13	32950884	32950885	C	CAG	reviewed by expert panel	ClinGen:CA10589514
single nucleotide variant	NM_000059.4(BRCA2):c.8760T>G (p.Tyr2920Ter)	BRCA2	Pathogenic	13	32953459	32953459	T	G	reviewed by expert panel	ClinGen:CA10589515