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.9593_9594del (p.Cys3198fs)	BRCA2	Pathogenic/Likely pathogenic	13	32971125	32971126	CTG	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs)	BRCA2	Pathogenic/Likely pathogenic	13	32914295	32914295	A	TT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3767del (p.His1256fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912259	32912259	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.1062dup (p.Val355fs)	BRCA2	Pathogenic/Likely pathogenic	13	32906674	32906675	A	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr)	WT1	Pathogenic/Likely pathogenic	11	32413560	32413560	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912195	32912195	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1593del (p.Glu532fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907203	32907203	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912646	32912646	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387780011
single nucleotide variant	NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912271	32912271	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387778317
Duplication	NM_000059.4(BRCA2):c.3174dup (p.Leu1059fs)	BRCA2	Pathogenic/Likely pathogenic	13	32911663	32911664	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798119