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
Insertion	NM_000059.4(BRCA2):c.5239_5240insT (p.Asn1747fs)	BRCA2	Pathogenic	13	32913731	32913732	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5467&base_change=ins T,ClinGen:CA021833
Deletion	NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs)	BRCA2	Pathogenic	13	32913759	32913775	GTATATAATGATTCAGGA	G	reviewed by expert panel	ClinGen:CA021904,Breast Cancer Information Core (BIC) (BRCA2):5498&base_change=del 17
Duplication	NM_000059.4(BRCA2):c.5492dup (p.Ser1832fs)	BRCA2	Pathogenic	13	32913983	32913984	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5720&base_change=ins T,ClinGen:CA022431
single nucleotide variant	NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter)	BRCA2	Pathogenic	13	32914174	32914174	C	A	reviewed by expert panel	ClinGen:CA022957
Deletion	NM_000059.4(BRCA2):c.5863del (p.Ser1955fs)	BRCA2	Pathogenic	13	32914354	32914354	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6091&base_change=del T,ClinGen:CA023315
Duplication	NM_000059.3(BRCA2):c.6098dup (p.Arg2034fs)	BRCA2	Pathogenic	13	32914589	32914590	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6325&base_change=ins T,ClinGen:CA023646
Insertion	NM_000059.4(BRCA2):c.6203_6204insA (p.Leu2069fs)	BRCA2	Pathogenic	13	32914695	32914696	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6431&base_change=ins A,ClinGen:CA023741
Duplication	NM_000059.4(BRCA2):c.6219dup (p.His2074fs)	BRCA2	Pathogenic	13	32914710	32914711	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6447&base_change=ins A,ClinGen:CA023766
Insertion	NM_000059.4(BRCA2):c.6374_6375insA (p.Cys2126fs)	BRCA2	Pathogenic	13	32914866	32914867	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6602&base_change=ins A,ClinGen:CA023961
Insertion	NM_000059.4(BRCA2):c.6391_6392insT (p.Lys2131fs)	BRCA2	Pathogenic	13	32914883	32914884	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6619&base_change=ins T,ClinGen:CA023974