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.3710del (p.Ala1237fs)	BRCA2	Pathogenic	13	32912202	32912202	GC	G	reviewed by expert panel	ClinGen:CA658653655
Duplication	NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter)	BRCA2	Pathogenic	13	32912357	32912358	A	AAAT	reviewed by expert panel	ClinGen:CA658653658
Deletion	NM_000059.4(BRCA2):c.4135del (p.Gln1379fs)	BRCA2	Pathogenic	13	32912627	32912627	TC	T	reviewed by expert panel	ClinGen:CA658653662
Deletion	NM_000059.4(BRCA2):c.4707_4708del (p.Tyr1569_Arg1570delinsTer)	BRCA2	Pathogenic	13	32913198	32913199	TAC	T	reviewed by expert panel	ClinGen:CA658653666
Deletion	NM_000059.4(BRCA2):c.4894del (p.Ser1632fs)	BRCA2	Pathogenic	13	32913382	32913382	CA	C	reviewed by expert panel	ClinGen:CA658653673
Deletion	NM_000059.4(BRCA2):c.5184_5185del (p.Asp1728fs)	BRCA2	Pathogenic	13	32913675	32913676	GAC	G	reviewed by expert panel	ClinGen:CA658653675
Deletion	NM_000059.4(BRCA2):c.5355_5356del (p.Ser1786fs)	BRCA2	Pathogenic	13	32913847	32913848	CTA	C	reviewed by expert panel	ClinGen:CA658653677
Deletion	NM_000059.4(BRCA2):c.5551del (p.Ile1851fs)	BRCA2	Pathogenic	13	32914040	32914040	TA	T	reviewed by expert panel	ClinGen:CA658653678
single nucleotide variant	NM_000059.4(BRCA2):c.5789T>G (p.Leu1930Ter)	BRCA2	Pathogenic	13	32914281	32914281	T	G	reviewed by expert panel	ClinGen:CA387787169
Deletion	NM_000059.4(BRCA2):c.5846del (p.Asp1949fs)	BRCA2	Pathogenic	13	32914338	32914338	GA	G	reviewed by expert panel	ClinGen:CA658653680