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
Insertion	NM_000059.4(BRCA2):c.7378_7379insG (p.Asn2460fs)	BRCA2	Pathogenic	13	32929368	32929369	A	AG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7463_7464insTA (p.Arg2488fs)	BRCA2	Pathogenic	13	32930592	32930593	G	GTA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7484_7485insA (p.Ile2495_Lys2496insTer)	BRCA2	Pathogenic	13	32930613	32930614	T	TA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7524_7525insT (p.Ser2509Ter)	BRCA2	Pathogenic	13	32930653	32930654	C	CT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7594_7595insTT (p.Pro2532fs)	BRCA2	Pathogenic	13	32930723	32930724	C	CTT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7674_7675insAAAC (p.Ser2559fs)	BRCA2	Pathogenic	13	32931935	32931936	G	GAAAC	reviewed by expert panel	-
Indel	NM_000059.4(BRCA2):c.7734_7739delAATACAinsCTGATGGTG	BRCA2	Pathogenic	13	32931995	32932000	AATACA	CTGATGGTG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7910_7911insGAAA (p.Phe2638fs)	BRCA2	Pathogenic	13	32936764	32936765	C	CGAAA	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.7939dup (p.Leu2647fs)	BRCA2	Pathogenic	13	32936791	32936792	G	GC	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.8048_8049insT (p.Thr2685fs)	BRCA2	Pathogenic	13	32937387	32937388	C	CT	reviewed by expert panel	-