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.4926_4935del (p.Asn1642fs)	BRCA2	Pathogenic	13	32913414	32913423	GAAAATGTAGA	G	reviewed by expert panel	ClinGen:CA021017
single nucleotide variant	NM_000059.4(BRCA2):c.4933A>T (p.Lys1645Ter)	BRCA2	Pathogenic	13	32913425	32913425	A	T	reviewed by expert panel	ClinGen:CA021026
Deletion	NM_000059.4(BRCA2):c.4935del (p.Glu1646fs)	BRCA2	Pathogenic	13	32913423	32913423	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5163&base_change=del A,ClinGen:CA021030
Deletion	NM_000059.4(BRCA2):c.4940_4941del (p.Thr1647fs)	BRCA2	Pathogenic	13	32913431	32913432	AAC	A	reviewed by expert panel	ClinGen:CA021044
Deletion	NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs)	BRCA2	Pathogenic	13	32913436	32913437	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5175&base_change=del AA,ClinGen:CA021051
Deletion	NM_000059.4(BRCA2):c.4952del (p.Pro1651fs)	BRCA2	Pathogenic	13	32913443	32913443	TC	T	reviewed by expert panel	ClinGen:CA021054
single nucleotide variant	NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)	BRCA2	Pathogenic	13	32913457	32913457	C	A	reviewed by expert panel	ClinGen:CA021066
Deletion	NM_000059.4(BRCA2):c.4965del (p.Cys1654_Tyr1655insTer)	BRCA2	Pathogenic	13	32913457	32913457	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5193&base_change=del C,ClinGen:CA021074
Deletion	NM_000059.4(BRCA2):c.4987_4990del (p.Val1663fs)	BRCA2	Pathogenic	13	32913476	32913479	TTCAG	T	reviewed by expert panel	ClinGen:CA021107
Duplication	NM_000059.4(BRCA2):c.4999dup (p.Ser1667fs)	BRCA2	Pathogenic	13	32913489	32913490	A	AT	reviewed by expert panel	ClinGen:CA021117