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.6256_6259del (p.Ile2086fs)	BRCA2	Pathogenic	13	32914747	32914750	TAATC	T	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.7068dup (p.Leu2357fs)	BRCA2	Pathogenic	13	32929055	32929056	A	AT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5879del (p.Cys1960fs)	BRCA2	Pathogenic	13	32914371	32914371	TG	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)	BRCA2	Pathogenic/Likely pathogenic	13	32971125	32971126	CTG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32315480)_(32398790_?)del	BRCA2	Pathogenic	13	32889617	32972927	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32325056)_(32325204_?)del	BRCA2	Pathogenic	13	32899193	32899341	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32325056)_(32363553_?)del	BRCA2	Pathogenic	13	32899193	32937690	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32346807)_(32346916_?)del	BRCA2	Pathogenic	13	32920944	32921053	na	na	criteria provided, single submitter	-
Duplication	NC_000013.10:g.(?_32930559)_(32937676_?)dup	BRCA2	Likely pathogenic	13	32930559	32937676	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32370382)_(32371120_?)del	BRCA2	Pathogenic	13	32944519	32945257	na	na	criteria provided, single submitter	-