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.7757G>A (p.Trp2586Ter)	BRCA2	Pathogenic	13	32932018	32932018	G	A	reviewed by expert panel	ClinGen:CA025259
single nucleotide variant	NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter)	BRCA2	Pathogenic	13	32905149	32905149	A	T	reviewed by expert panel	ClinGen:CA025262
Deletion	NM_000059.4(BRCA2):c.775del (p.Arg259fs)	BRCA2	Pathogenic	13	32905147	32905147	CA	C	reviewed by expert panel	ClinGen:CA025263
Deletion	NM_000059.4(BRCA2):c.7761del (p.Ile2588fs)	BRCA2	Pathogenic	13	32932022	32932022	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7989&base_change=del C,ClinGen:CA025264
Deletion	NM_000059.4(BRCA2):c.7762del (p.Ile2588fs)	BRCA2	Pathogenic	13	32932023	32932023	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7990&base_change=del A,ClinGen:CA025265
single nucleotide variant	NM_000059.4(BRCA2):c.7805+1G>A	BRCA2	Pathogenic	13	32932067	32932067	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):8033+1&base_change=G to A,ClinGen:CA025280
single nucleotide variant	NM_000059.4(BRCA2):c.7805G>C (p.Arg2602Thr)	BRCA2	Pathogenic	13	32932066	32932066	G	C	criteria provided, single submitter	ClinGen:CA025285
single nucleotide variant	NM_000059.4(BRCA2):c.7806-1G>T	BRCA2	Pathogenic	13	32936659	32936659	G	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):8034-1&base_change=G to T,ClinGen:CA025288
single nucleotide variant	NM_000059.4(BRCA2):c.7806-2A>G	BRCA2	Pathogenic	13	32936658	32936658	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8034-2&base_change=A to G,ClinGen:CA025289
single nucleotide variant	NM_000059.4(BRCA2):c.7806-9T>G	BRCA2	Pathogenic	13	32936651	32936651	T	G	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):8034-9&base_change=T to G,ClinGen:CA025293