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
Indel	NM_000059.3(BRCA2):c.533_539delinsGAC (p.Lys178fs)	BRCA2	Pathogenic	13	32900652	32900658	AACATAT	GAC	criteria provided, single submitter	ClinGen:CA658798103
single nucleotide variant	NM_000059.4(BRCA2):c.475+2T>A	BRCA2	Pathogenic	13	32900289	32900289	T	A	criteria provided, single submitter	ClinGen:CA387757263
Deletion	NM_000059.4(BRCA2):c.705del (p.His236fs)	BRCA2	Pathogenic	13	32905079	32905079	AT	A	criteria provided, single submitter	ClinGen:CA658798109
Deletion	NM_000059.4(BRCA2):c.2147del (p.Gln716fs)	BRCA2	Pathogenic	13	32910639	32910639	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798105
Duplication	NM_000059.4(BRCA2):c.1754dup (p.Lys586fs)	BRCA2	Pathogenic	13	32907364	32907365	G	GA	criteria provided, single submitter	ClinGen:CA658798085
Duplication	NM_000059.4(BRCA2):c.4117dup (p.Met1373fs)	BRCA2	Pathogenic	13	32912608	32912609	T	TA	criteria provided, single submitter	ClinGen:CA658798081
Deletion	NM_000059.4(BRCA2):c.5807del (p.Met1936fs)	BRCA2	Pathogenic	13	32914299	32914299	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798121
Duplication	NM_000059.4(BRCA2):c.4739dup (p.Cys1580fs)	BRCA2	Pathogenic	13	32913230	32913231	T	TG	criteria provided, single submitter	ClinGen:CA658798096
single nucleotide variant	NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913763	32913763	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387784744
Duplication	NM_000059.4(BRCA2):c.6824_6827dup (p.Leu2277fs)	BRCA2	Pathogenic/Likely pathogenic	13	32915315	32915316	G	GAGCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798090