ウィルムス腫瘍

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.3914_3915del (p.Phe1305fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912404	32912405	CTT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.3935dup (p.Asn1312fs)	BRCA2	Likely pathogenic	13	32912423	32912424	G	GA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912428	32912428	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.3972T>G (p.Tyr1324Ter)	BRCA2	Likely pathogenic	13	32912464	32912464	T	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4305_4309del (p.Asn1435fs)	BRCA2	Likely pathogenic	13	32912796	32912800	AATATT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter)	BRCA2	Likely pathogenic	13	32913314	32913314	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913413	32913413	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.6999dup (p.Pro2334fs)	BRCA2	Likely pathogenic	13	32921024	32921025	T	TA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7274del (p.Asn2425fs)	BRCA2	Likely pathogenic	13	32929263	32929263	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32929413	32929413	G	T	criteria provided, multiple submitters, no conflicts	-