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
Indel	NM_000059.4(BRCA2):c.6836_6837delinsCTTTGTGGTAAGTTT (p.Leu2279delinsSerLeuTrpTer)	BRCA2	Pathogenic	13	32915328	32915329	TA	CTTTGTGGTAAGTTT	reviewed by expert panel	ClinGen:CA024478
Duplication	NM_000059.4(BRCA2):c.681+2dup	BRCA2	Pathogenic/Likely pathogenic	13	32903631	32903631	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA024430
single nucleotide variant	NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)	BRCA2	Pathogenic	13	32936731	32936731	G	A	reviewed by expert panel	ClinGen:CA025317
Deletion	NM_000059.4(BRCA2):c.6702del (p.Phe2234fs)	BRCA2	Pathogenic	13	32915191	32915191	CT	C	reviewed by expert panel	ClinGen:CA024308
single nucleotide variant	NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)	BRCA2	Pathogenic	13	32953974	32953974	C	G	reviewed by expert panel	ClinGen:CA025940
Duplication	NM_000059.4(BRCA2):c.6349dup (p.Cys2117fs)	BRCA2	Pathogenic	13	32914840	32914841	C	CT	reviewed by expert panel	ClinGen:CA023940
single nucleotide variant	NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)	BRCA2	Pathogenic	13	32911410	32911410	C	A	reviewed by expert panel	ClinGen:CA016767
single nucleotide variant	NM_000059.4(BRCA2):c.6308C>G (p.Ser2103Ter)	BRCA2	Pathogenic	13	32914800	32914800	C	G	reviewed by expert panel	ClinGen:CA023846
single nucleotide variant	NM_000059.4(BRCA2):c.1909+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32907525	32907525	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013828
Deletion	NM_000059.4(BRCA2):c.9257-5_9278del	BRCA2	Pathogenic	13	32968820	32968846	ATTCTAGGACTTGCCCCTTTCGTCTATT	A	criteria provided, single submitter	ClinGen:CA165073