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.517G>C (p.Gly173Arg)	BRCA2	Pathogenic/Likely pathogenic	13	32900636	32900636	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021599
Duplication	NM_000059.4(BRCA2):c.670_673dup (p.Thr225fs)	BRCA2	Pathogenic	13	32903617	32903618	T	TGATA	reviewed by expert panel	ClinGen:CA024350
Duplication	NM_000059.4(BRCA2):c.2380dup (p.Met794fs)	BRCA2	Pathogenic	13	32910868	32910869	C	CA	reviewed by expert panel	ClinGen:CA015082
Deletion	NM_000059.4(BRCA2):c.3010del (p.Ser1004fs)	BRCA2	Pathogenic	13	32911502	32911502	CA	C	reviewed by expert panel	ClinGen:CA017044
single nucleotide variant	NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter)	BRCA2	Pathogenic	13	32911664	32911664	A	T	reviewed by expert panel	ClinGen:CA017460
Deletion	NM_000059.4(BRCA2):c.3820_3823del (p.Phe1273_Lys1274insTer)	BRCA2	Pathogenic	13	32912312	32912315	TAAGA	T	reviewed by expert panel	ClinGen:CA018870
Duplication	NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs)	BRCA2	Pathogenic	13	32912603	32912604	C	CA	reviewed by expert panel	ClinGen:CA019549
Deletion	NM_000059.4(BRCA2):c.4168_4169del (p.Leu1390fs)	BRCA2	Pathogenic	13	32912656	32912657	CTT	C	reviewed by expert panel	ClinGen:CA019652
Deletion	NM_000059.4(BRCA2):c.4277del (p.Thr1426fs)	BRCA2	Pathogenic	13	32912769	32912769	AC	A	reviewed by expert panel	ClinGen:CA019898
Duplication	NM_000059.4(BRCA2):c.6267_6270dup (p.Ser2091delinsAlaTer)	BRCA2	Pathogenic	13	32914758	32914759	A	AGCAT	reviewed by expert panel	ClinGen:CA023803