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
Duplication	NM_000059.4(BRCA2):c.1542dup (p.Thr515fs)	BRCA2	Pathogenic	13	32907156	32907157	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1769&base_change=ins G,ClinGen:CA012337
Duplication	NM_000059.4(BRCA2):c.1608dup (p.Glu537Ter)	BRCA2	Pathogenic	13	32907222	32907223	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1835&base_change=ins T,ClinGen:CA012621
Duplication	NM_000059.4(BRCA2):c.1648dup (p.Glu550fs)	BRCA2	Pathogenic	13	32907261	32907262	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1876&base_change=ins G,ClinGen:CA012780
Insertion	NM_000059.4(BRCA2):c.1854_1855insA (p.Gln619fs)	BRCA2	Pathogenic	13	32907469	32907470	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2082&base_change=ins A,ClinGen:CA013606
Duplication	NM_000059.4(BRCA2):c.2212dup (p.Cys738fs)	BRCA2	Pathogenic	13	32910703	32910704	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2440&base_change=ins T,ClinGen:CA014625
Insertion	NM_000059.4(BRCA2):c.37_38insT (p.Glu13fs)	BRCA2	Pathogenic	13	32890634	32890635	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):265&base_change=ins T,ClinGen:CA018683
Duplication	NM_000059.4(BRCA2):c.2439dup (p.Pro814fs)	BRCA2	Pathogenic	13	32910929	32910930	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2667&base_change=ins T,ClinGen:CA015262
Duplication	NM_000059.4(BRCA2):c.2526dup (p.Ala843fs)	BRCA2	Pathogenic	13	32911017	32911018	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2754&base_change=ins A,ClinGen:CA015550
Deletion	NM_000059.4(BRCA2):c.2595del (p.Glu866fs)	BRCA2	Pathogenic	13	32911086	32911086	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2823&base_change=del A,ClinGen:CA015752
Deletion	NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer)	BRCA2	Pathogenic	13	32893215	32893240	ATTTAGGACCAATAAGTCTTAATTGGT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):299&base_change=del 26,ClinGen:CA024953