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.9887del (p.Lys3296fs)	BRCA2	Pathogenic	13	32972536	32972536	GA	G	criteria provided, single submitter	ClinGen:CA658798107
Duplication	NM_000059.4(BRCA2):c.3174dup (p.Leu1059fs)	BRCA2	Pathogenic/Likely pathogenic	13	32911663	32911664	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798119
single nucleotide variant	NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912271	32912271	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387778317
Deletion	NM_000059.4(BRCA2):c.3933_3943del (p.Asn1312fs)	BRCA2	Pathogenic	13	32912423	32912433	TGAAAATTACAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798134
single nucleotide variant	NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912646	32912646	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387780011
Deletion	NM_000059.4(BRCA2):c.4551_4593del (p.Glu1518fs)	BRCA2	Pathogenic	13	32913041	32913083	CAAAGAACCTACTCTATTGGGTTTTCATACAGCTAGCGGGAAAA	C	criteria provided, single submitter	ClinGen:CA658798091
Duplication	NM_000059.4(BRCA2):c.4810dup (p.Leu1604fs)	BRCA2	Pathogenic	13	32913300	32913301	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798097
single nucleotide variant	NM_000059.4(BRCA2):c.5075G>A (p.Trp1692Ter)	BRCA2	Pathogenic	13	32913567	32913567	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387784070
Duplication	NM_000059.4(BRCA2):c.6690dup (p.Ala2231fs)	BRCA2	Pathogenic	13	32915180	32915181	A	AT	criteria provided, single submitter	ClinGen:CA658798084
Deletion	NM_000059.3(BRCA2):c.9257delG	BRCA2	Pathogenic	13	32968825	32968825	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798088