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
Deletion	NM_000059.4(BRCA2):c.8993_9024del (p.Ser2998fs)	BRCA2	Pathogenic	13	32953923	32953954	TATTCTCTGTTAACAGAAGGAAAGAGATACAGA	T	reviewed by expert panel	ClinGen:CA10589536
Duplication	NM_000059.4(BRCA2):c.9017dup (p.Tyr3006Ter)	BRCA2	Pathogenic	13	32953949	32953950	T	TA	reviewed by expert panel	ClinGen:CA10589537
Insertion	NM_000059.4(BRCA2):c.9019_9020insTCTA (p.Arg3007delinsIleTer)	BRCA2	Pathogenic	13	32953951	32953952	C	CATCT	reviewed by expert panel	ClinGen:CA10589538
Deletion	NM_000059.4(BRCA2):c.9024_9046del (p.Ile3008_Tyr3009insTer)	BRCA2	Pathogenic	13	32953954	32953976	GAATTTATCATCTTGCAACTTCAA	G	reviewed by expert panel	ClinGen:CA10589539
Duplication	NM_000059.4(BRCA2):c.9025dup (p.Tyr3009fs)	BRCA2	Pathogenic	13	32953955	32953956	A	AT	reviewed by expert panel	ClinGen:CA10589540
Duplication	NM_000059.4(BRCA2):c.9034dup (p.Ala3012fs)	BRCA2	Pathogenic	13	32953966	32953967	T	TG	reviewed by expert panel	ClinGen:CA10589541
Deletion	NM_000059.4(BRCA2):c.9052del (p.Ser3018fs)	BRCA2	Pathogenic	13	32953982	32953982	TA	T	reviewed by expert panel	ClinGen:CA10589542
Duplication	NM_000059.4(BRCA2):c.9060dup (p.Glu3021Ter)	BRCA2	Pathogenic	13	32953992	32953993	C	CT	reviewed by expert panel	ClinGen:CA10589543
Duplication	NM_000059.4(BRCA2):c.9063_9064dup (p.Arg3022fs)	BRCA2	Pathogenic	13	32953994	32953995	G	GAA	reviewed by expert panel	ClinGen:CA10589544
Deletion	NM_000059.4(BRCA2):c.9089del (p.Thr3030fs)	BRCA2	Pathogenic	13	32954022	32954022	AC	A	reviewed by expert panel	ClinGen:CA10589545