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.3002C>G (p.Ser1001Ter)	BRCA2	Pathogenic	13	32911494	32911494	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387774682
Deletion	NM_000059.4(BRCA2):c.3861_3865del (p.Asn1287fs)	BRCA2	Pathogenic	13	32912352	32912356	AATAAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798131
Deletion	NM_000059.4(BRCA2):c.3906del (p.Gly1303fs)	BRCA2	Pathogenic	13	32912398	32912398	CT	C	criteria provided, single submitter	ClinGen:CA658798133
Deletion	NC_000013.11:g.(?_32326095)_(32363539_?)del	BRCA2	Pathogenic	13	32900232	32937676	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter)	BRCA2	Pathogenic	13	32914907	32914907	G	T	criteria provided, single submitter	ClinGen:CA387789266
Indel	NM_000059.4(BRCA2):c.6987_6989delinsTGTG (p.Ile2330fs)	BRCA2	Pathogenic	13	32921013	32921015	GAT	TGTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798101
single nucleotide variant	NM_000059.4(BRCA2):c.8332-2A>C	BRCA2	Likely pathogenic	13	32944537	32944537	A	C	criteria provided, single submitter	ClinGen:CA387752308
Deletion	NM_000059.4(BRCA2):c.8663del (p.Arg2888fs)	BRCA2	Pathogenic	13	32950837	32950837	CG	C	criteria provided, single submitter	ClinGen:CA658798063
Duplication	NM_000059.4(BRCA2):c.161dup (p.Asn54fs)	BRCA2	Pathogenic	13	32893302	32893303	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798083
single nucleotide variant	NM_000059.4(BRCA2):c.8954-1G>A	BRCA2	Likely pathogenic	13	32953886	32953886	G	A	criteria provided, single submitter	ClinGen:CA387757355