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.4398dup (p.His1467fs)	BRCA2	Pathogenic	13	32912889	32912890	T	TA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4448_4449del (p.Thr1483fs)	BRCA2	Pathogenic	13	32912939	32912940	AAC	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5191del (p.His1731fs)	BRCA2	Pathogenic	13	32913683	32913683	TC	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5525del (p.Pro1842fs)	BRCA2	Pathogenic	13	32914016	32914016	AC	A	criteria provided, single submitter	-
Indel	NM_000059.3(BRCA2):c.5998delinsCG (p.Phe2000fs)	BRCA2	Pathogenic	13	32914490	32914490	T	CG	criteria provided, single submitter	-
Insertion	NM_000059.4(BRCA2):c.6777_6778insA (p.Glu2260fs)	BRCA2	Pathogenic	13	32915269	32915270	T	TA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.6993_7007+7del	BRCA2	Pathogenic	13	32921017	32921038	TACCTGTGTACCCTTTCGGTAAG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7435+2T>A	BRCA2	Likely pathogenic	13	32929427	32929427	T	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8147del (p.Val2716fs)	BRCA2	Pathogenic	13	32937486	32937486	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.8755-2A>C	BRCA2	Likely pathogenic	13	32953452	32953452	A	C	criteria provided, multiple submitters, no conflicts	-