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
Indel	NM_000059.3(BRCA2):c.6996_7004delTGTACCCTTins20 (p.?)	BRCA2	Pathogenic	13	32921022	32921030	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7142del (p.Pro2381fs)	BRCA2	Pathogenic	13	32929131	32929131	TC	T	reviewed by expert panel	ClinGen:CA024902
Duplication	NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)	BRCA2	Pathogenic	13	32930653	32930654	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7753&base_change=ins A,ClinGen:CA025132
Duplication	NM_000059.4(BRCA2):c.7556dup (p.Arg2520fs)	BRCA2	Pathogenic	13	32930683	32930684	G	GC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7784&base_change=ins C,ClinGen:CA025143
Duplication	NM_000059.4(BRCA2):c.7889_7890dup (p.Leu2631fs)	BRCA2	Pathogenic	13	32936741	32936742	G	GAA	reviewed by expert panel	ClinGen:CA025324
Deletion	NM_000059.4(BRCA2):c.8200_8209del (p.Asp2733_Pro2734insTer)	BRCA2	Pathogenic	13	32937538	32937547	ATCCTCCCCTC	A	reviewed by expert panel	ClinGen:CA025507
Deletion	NM_000059.4(BRCA2):c.8308del (p.Ala2770fs)	BRCA2	Pathogenic	13	32937647	32937647	AG	A	reviewed by expert panel	ClinGen:CA025560
Deletion	NM_000059.4(BRCA2):c.8374del (p.Gly2793fs)	BRCA2	Pathogenic	13	32944581	32944581	AC	A	reviewed by expert panel	ClinGen:CA025611
single nucleotide variant	NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter)	BRCA2	Pathogenic	13	32945186	32945186	A	T	reviewed by expert panel	ClinGen:CA025722
Deletion	NM_000059.4(BRCA2):c.9060del (p.Glu3021fs)	BRCA2	Pathogenic	13	32953993	32953993	CT	C	reviewed by expert panel	ClinGen:CA025953