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
Deletion	NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs)	BRCA2	Pathogenic	13	32972438	32972439	AAG	A	reviewed by expert panel	ClinGen:CA10589574
single nucleotide variant	NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter)	BRCA2	Likely pathogenic	13	32972434	32972434	C	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9777del (p.Ile3259fs)	BRCA2	Pathogenic	13	32972426	32972426	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9772_9775del (p.Glu3258fs)	BRCA2	Pathogenic	13	32972421	32972424	AAGAG	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972419	32972420	GAA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9770_9773del (p.Lys3257fs)	BRCA2	Pathogenic	13	32972417	32972420	GAGAA	G	reviewed by expert panel	ClinGen:CA026293
Deletion	NM_000059.4(BRCA2):c.9766_9770del (p.Glu3256fs)	BRCA2	Likely pathogenic	13	32972416	32972420	GGAGAA	G	criteria provided, single submitter	ClinGen:CA658683834
Deletion	NM_000059.4(BRCA2):c.9753del (p.Lys3251fs)	BRCA2	Pathogenic	13	32972403	32972403	AG	A	reviewed by expert panel	ClinGen:CA10575936
Duplication	NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)	BRCA2	Pathogenic	13	32972396	32972397	C	CT	reviewed by expert panel	ClinGen:CA10589573
single nucleotide variant	NM_000059.4(BRCA2):c.9739C>T (p.Gln3247Ter)	BRCA2	Pathogenic	13	32972389	32972389	C	T	reviewed by expert panel	ClinGen:CA10589572