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.9454G>T (p.Glu3152Ter)	BRCA2	Pathogenic	13	32969023	32969023	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387761663
Duplication	NM_000059.4(BRCA2):c.9810dup (p.Asp3272fs)	BRCA2	Pathogenic	13	32972458	32972459	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683837
single nucleotide variant	NM_000059.4(BRCA2):c.5054C>G (p.Ser1685Ter)	BRCA2	Pathogenic	13	32913546	32913546	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387784027
Indel	NM_000059.4(BRCA2):c.3165_3167delinsCC (p.Lys1057fs)	BRCA2	Pathogenic	13	32911657	32911659	TCA	CC	criteria provided, single submitter	ClinGen:CA658683858
Deletion	NM_000059.4(BRCA2):c.3452_3455del (p.Ile1151fs)	BRCA2	Pathogenic	13	32911944	32911947	ATCTT	A	criteria provided, single submitter	ClinGen:CA658683864
Duplication	NM_000059.4(BRCA2):c.3678dup (p.Leu1227fs)	BRCA2	Pathogenic	13	32912166	32912167	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683867
Deletion	NM_000059.4(BRCA2):c.3679_3683del (p.Leu1227fs)	BRCA2	Pathogenic	13	32912169	32912173	AAACTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683868
single nucleotide variant	NM_000059.4(BRCA2):c.4441G>T (p.Glu1481Ter)	BRCA2	Pathogenic	13	32912933	32912933	G	T	criteria provided, single submitter	ClinGen:CA387781338
Deletion	NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)	BRCA2	Pathogenic/Likely pathogenic	13	32929176	32929177	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683838
Deletion	NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer)	BRCA2	Pathogenic	13	32930708	32930708	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683852