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
Duplication	NM_000059.4(BRCA2):c.4461dup (p.His1488fs)	BRCA2	Pathogenic	13	32912950	32912951	T	TA	criteria provided, single submitter	ClinGen:CA658656342
single nucleotide variant	NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913083	32913083	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387781936
Duplication	NM_000059.4(BRCA2):c.5297dup (p.Asn1766fs)	BRCA2	Pathogenic	13	32913783	32913784	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656391
Indel	NM_000059.3(BRCA2):c.5794_5800delinsT (p.His1932_Gln1934delinsTer)	BRCA2	Pathogenic	13	32914286	32914292	CATAACC	T	criteria provided, single submitter	ClinGen:CA658656403
Deletion	NM_000059.4(BRCA2):c.7215_7218del (p.Val2407fs)	BRCA2	Pathogenic	13	32929204	32929207	GTCTT	G	criteria provided, single submitter	ClinGen:CA658656407
single nucleotide variant	NM_000059.4(BRCA2):c.8548G>T (p.Glu2850Ter)	BRCA2	Pathogenic	13	32945153	32945153	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387752774
Deletion	NM_000059.4(BRCA2):c.8886_8950del (p.Leu2962fs)	BRCA2	Pathogenic	13	32953583	32953647	TTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA	T	criteria provided, single submitter	ClinGen:CA658656406
single nucleotide variant	NM_000059.4(BRCA2):c.8909G>A (p.Trp2970Ter)	BRCA2	Pathogenic	13	32953608	32953608	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757254
Deletion	NM_000059.4(BRCA2):c.8945_8946del (p.Lys2982fs)	BRCA2	Pathogenic	13	32953641	32953642	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656412
Deletion	NM_000059.4(BRCA2):c.217del (p.Gln73fs)	BRCA2	Pathogenic	13	32893363	32893363	TC	T	criteria provided, single submitter	ClinGen:CA658656334