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.8416del (p.Ser2806fs)	BRCA2	Pathogenic	13	32944623	32944623	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.8417C>G (p.Ser2806Ter)	BRCA2	Pathogenic	13	32944624	32944624	C	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8426del (p.Phe2809fs)	BRCA2	Pathogenic	13	32944630	32944630	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32315480)_(32316547_?)del	BRCA2	Pathogenic	13	32889617	32890684	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32325070)_(32325190_?)del	BRCA2	Pathogenic	13	32899207	32899327	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.476-1G>C	BRCA2	Pathogenic	13	32900378	32900378	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.3637G>T (p.Glu1213Ter)	BRCA2	Pathogenic	13	32912129	32912129	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7510_7513dup (p.Pro2505fs)	BRCA2	Pathogenic	13	32930636	32930637	G	GTCTT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8702del (p.Gly2901fs)	BRCA2	Pathogenic	13	32950875	32950875	TG	T	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.537dup (p.Ile180fs)	BRCA2	Pathogenic	13	32900655	32900656	A	AT	criteria provided, multiple submitters, no conflicts	-