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.6085_6089del (p.Glu2029fs)	BRCA2	Pathogenic	13	32914575	32914579	GAAGAA	G	reviewed by expert panel	ClinGen:CA10589353
Deletion	NM_000059.4(BRCA2):c.6099del (p.Arg2034fs)	BRCA2	Pathogenic	13	32914591	32914591	TA	T	reviewed by expert panel	ClinGen:CA10589354
Deletion	NM_000059.4(BRCA2):c.6129del (p.Gly2044fs)	BRCA2	Pathogenic	13	32914617	32914617	CA	C	reviewed by expert panel	ClinGen:CA10589355
Deletion	NM_000059.4(BRCA2):c.6137_6138del (p.Ser2046fs)	BRCA2	Pathogenic	13	32914629	32914630	TCA	T	reviewed by expert panel	ClinGen:CA10589356
Deletion	NM_000059.4(BRCA2):c.6145del (p.Val2049fs)	BRCA2	Pathogenic	13	32914637	32914637	TG	T	reviewed by expert panel	ClinGen:CA10589357
single nucleotide variant	NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter)	BRCA2	Pathogenic	13	32914647	32914647	C	G	reviewed by expert panel	ClinGen:CA10589358
Deletion	NM_000059.4(BRCA2):c.6199del (p.Ser2067fs)	BRCA2	Pathogenic	13	32914689	32914689	GT	G	reviewed by expert panel	ClinGen:CA10589359
Duplication	NM_000059.4(BRCA2):c.6225dup (p.Val2076fs)	BRCA2	Pathogenic	13	32914714	32914715	C	CA	reviewed by expert panel	ClinGen:CA10589360
single nucleotide variant	NM_000059.4(BRCA2):c.6244G>T (p.Glu2082Ter)	BRCA2	Pathogenic	13	32914736	32914736	G	T	reviewed by expert panel	ClinGen:CA10589361
Deletion	NM_000059.4(BRCA2):c.6246del (p.Glu2082fs)	BRCA2	Pathogenic	13	32914737	32914737	GA	G	reviewed by expert panel	ClinGen:CA10589362