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.2979G>A (p.Trp993Ter)	BRCA2	Pathogenic	13	32911471	32911471	G	A	reviewed by expert panel	ClinGen:CA016943
single nucleotide variant	NM_000059.4(BRCA2):c.3073A>T (p.Lys1025Ter)	BRCA2	Pathogenic	13	32911565	32911565	A	T	reviewed by expert panel	ClinGen:CA017171
single nucleotide variant	NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)	BRCA2	Pathogenic	13	32911601	32911601	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3337&base_change=C to T,ClinGen:CA017251
single nucleotide variant	NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter)	BRCA2	Pathogenic	13	32911650	32911650	T	G	reviewed by expert panel	ClinGen:CA017322
single nucleotide variant	NM_000059.4(BRCA2):c.316+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32893463	32893463	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017358
single nucleotide variant	NM_000059.4(BRCA2):c.316+1G>C	BRCA2	Pathogenic	13	32893463	32893463	G	C	criteria provided, single submitter	ClinGen:CA017361
Deletion	NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs)	BRCA2	Pathogenic	13	32911650	32911653	TTAGA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3388&base_change=del GATA,ClinGen:CA017329
Deletion	NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)	BRCA2	Pathogenic	13	32911659	32911663	CAAAAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3398&base_change=del AGAAA,ClinGen:CA017423
Deletion	NM_000059.4(BRCA2):c.3182del (p.Lys1061fs)	BRCA2	Pathogenic	13	32911673	32911673	CA	C	reviewed by expert panel	ClinGen:CA017486
Duplication	NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)	BRCA2	Pathogenic	13	32911755	32911756	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3492&base_change=ins T,ClinGen:CA017653