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.8347del (p.Thr2783fs)	BRCA2	Pathogenic	13	32944554	32944554	TA	T	reviewed by expert panel	ClinGen:CA10589486
Deletion	NM_000059.4(BRCA2):c.8348del (p.Thr2783fs)	BRCA2	Pathogenic	13	32944555	32944555	AC	A	reviewed by expert panel	ClinGen:CA10589487
Deletion	NM_000059.4(BRCA2):c.8362_8363del (p.Trp2788fs)	BRCA2	Pathogenic	13	32944569	32944570	CTG	C	reviewed by expert panel	ClinGen:CA10589488
Indel	NM_000059.3(BRCA2):c.8374_8384delinsA (p.Leu2792fs)	BRCA2	Pathogenic	13	32944581	32944591	CTTGGATTCTT	A	reviewed by expert panel	ClinGen:CA10589489
Deletion	NM_000059.4(BRCA2):c.8385del (p.Pro2796fs)	BRCA2	Pathogenic	13	32944590	32944590	CT	C	reviewed by expert panel	ClinGen:CA10589490
Duplication	NM_000059.4(BRCA2):c.8393_8396dup (p.Arg2799delinsSerTer)	BRCA2	Pathogenic	13	32944599	32944600	C	CCTAG	reviewed by expert panel	ClinGen:CA10589491
Deletion	NM_000059.4(BRCA2):c.8393_8399del (p.Pro2798fs)	BRCA2	Pathogenic	13	32944596	32944602	TGACCCTA	T	reviewed by expert panel	ClinGen:CA10589492
Duplication	NM_000059.4(BRCA2):c.8393dup (p.Pro2798_Arg2799insTer)	BRCA2	Pathogenic	13	32944597	32944598	A	AC	reviewed by expert panel	ClinGen:CA10589493
single nucleotide variant	NM_000059.4(BRCA2):c.8395A>T (p.Arg2799Ter)	BRCA2	Pathogenic	13	32944602	32944602	A	T	reviewed by expert panel	ClinGen:CA10589494
Indel	NM_000059.3(BRCA2):c.8401_8403delinsAAAA (p.Phe2801fs)	BRCA2	Pathogenic	13	32944608	32944610	TTT	AAAA	reviewed by expert panel	ClinGen:CA10589495