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
single nucleotide variant	NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter)	BRCA2	Pathogenic	13	32910723	32910723	C	G	reviewed by expert panel	ClinGen:CA014691
single nucleotide variant	NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)	BRCA2	Pathogenic	13	32910901	32910901	T	G	reviewed by expert panel	ClinGen:CA015152
single nucleotide variant	NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter)	BRCA2	Pathogenic	13	32910918	32910918	T	G	reviewed by expert panel	ClinGen:CA015222
Duplication	NM_000059.4(BRCA2):c.2480dup (p.Asn827fs)	BRCA2	Pathogenic	13	32910968	32910969	G	GA	reviewed by expert panel	ClinGen:CA015423
Duplication	NM_000059.4(BRCA2):c.2588dup (p.Asn863fs)	BRCA2	Pathogenic	13	32911080	32911080	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2810&base_change=ins A,Breast Cancer Information Core (BIC) (BRCA2):2816&base_change=ins A,ClinGen:CA015689
Deletion	NM_000059.4(BRCA2):c.2618_2619del (p.Ile873fs)	BRCA2	Pathogenic	13	32911109	32911110	AAT	A	reviewed by expert panel	ClinGen:CA015858
Deletion	NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs)	BRCA2	Pathogenic	13	32911150	32911151	ATG	A	reviewed by expert panel	ClinGen:CA015970
single nucleotide variant	NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)	BRCA2	Pathogenic	13	32893420	32893420	C	T	reviewed by expert panel	ClinGen:CA016251
single nucleotide variant	NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter)	BRCA2	Pathogenic	13	32911310	32911310	C	T	reviewed by expert panel	ClinGen:CA016502
Insertion	NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs)	BRCA2	Pathogenic	13	32911449	32911450	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3185&base_change=ins G,ClinGen:CA016887