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	NC_000013.11:g.(?_32316422)_(32319325_?)del	BRCA2	Pathogenic	13	32890559	32893462	na	na	criteria provided, single submitter	-
Deletion	NM_000059.3(BRCA2):c.68-?_316+?del	BRCA2	Pathogenic	13	32893214	32893462	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000059.4(BRCA2):c.426-1G>A	BRCA2	Likely pathogenic	13	32900237	32900237	G	A	criteria provided, single submitter	ClinGen:CA16614098
Deletion	NM_000059.4(BRCA2):c.522del (p.Gln175fs)	BRCA2	Pathogenic	13	32900641	32900641	GT	G	reviewed by expert panel	ClinGen:CA16614099
Deletion	NM_000059.4(BRCA2):c.1192del (p.Gln397_Leu398insTer)	BRCA2	Pathogenic	13	32906807	32906807	AC	A	reviewed by expert panel	ClinGen:CA16614105
Deletion	NM_000059.4(BRCA2):c.1982del (p.Ser661fs)	BRCA2	Pathogenic	13	32910474	32910474	AG	A	reviewed by expert panel	ClinGen:CA16614116
Deletion	NM_000059.4(BRCA2):c.2976del (p.Lys992fs)	BRCA2	Pathogenic	13	32911466	32911466	CA	C	reviewed by expert panel	ClinGen:CA16614126
single nucleotide variant	NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter)	BRCA2	Pathogenic	13	32911683	32911683	C	A	reviewed by expert panel	ClinGen:CA16614134
Duplication	NM_000059.4(BRCA2):c.4877dup (p.Asn1626fs)	BRCA2	Pathogenic	13	32913365	32913366	G	GA	reviewed by expert panel	ClinGen:CA16614152
Deletion	NM_000059.4(BRCA2):c.5653del (p.Cys1885fs)	BRCA2	Pathogenic	13	32914143	32914143	AT	A	reviewed by expert panel	ClinGen:CA16614178