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.9017_9018insTCTA (p.Arg3007fs)	BRCA2	Pathogenic	13	32953948	32953949	A	ATATC	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9096_9097insT (p.Thr3033fs)	BRCA2	Pathogenic	13	32954029	32954030	A	AT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9193_9194insA (p.Phe3065fs)	BRCA2	Pathogenic	13	32954219	32954220	T	TA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9218_9219insTTTA (p.Ile3075fs)	BRCA2	Pathogenic	13	32954243	32954244	G	GATTT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9310_9311insTTAT (p.Lys3104fs)	BRCA2	Pathogenic	13	32968879	32968880	A	ATTAT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9323_9324insATTA (p.Asp3108fs)	BRCA2	Pathogenic	13	32968891	32968892	G	GAATT	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.9383dup (p.Pro3129fs)	BRCA2	Pathogenic	13	32968951	32968952	C	CG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9386_9387insCTGATTTGGACCACT (p.Pro3129_Glu3130insTer)	BRCA2	Pathogenic	13	32968955	32968956	C	CCTGATTTGGACCACT	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.9470del (p.Glu3157fs)	BRCA2	Pathogenic	13	32969039	32969039	GA	G	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9517_9518insCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCTT (p.Cys3173fs)	BRCA2	Pathogenic	13	32971048	32971049	T	TTTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTC	reviewed by expert panel	-