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.6220del (p.His2074fs)	BRCA2	Pathogenic	13	32914712	32914712	AC	A	reviewed by expert panel	ClinGen:CA16614193
single nucleotide variant	NM_000059.4(BRCA2):c.7722G>A (p.Trp2574Ter)	BRCA2	Pathogenic	13	32931983	32931983	G	A	reviewed by expert panel	ClinGen:CA16614212
single nucleotide variant	NM_000059.4(BRCA2):c.7876T>A (p.Trp2626Arg)	BRCA2	Likely pathogenic	13	32936730	32936730	T	A	criteria provided, single submitter	ClinGen:CA16614217
Duplication	NM_000059.4(BRCA2):c.1333dup (p.Ser445fs)	BRCA2	Pathogenic	13	32906946	32906947	A	AT	reviewed by expert panel	ClinGen:CA16614226
Insertion	NM_000059.4(BRCA2):c.9097_9098insT (p.Thr3033fs)	BRCA2	Pathogenic	13	32954030	32954031	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614239
Deletion	NM_000059.4(BRCA2):c.2474del (p.Asn825fs)	BRCA2	Pathogenic	13	32910964	32910964	TA	T	reviewed by expert panel	ClinGen:CA16614251
single nucleotide variant	NM_000059.4(BRCA2):c.2590C>T (p.Gln864Ter)	BRCA2	Pathogenic	13	32911082	32911082	C	T	reviewed by expert panel	ClinGen:CA16614253
single nucleotide variant	NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter)	BRCA2	Pathogenic	13	32911598	32911598	G	T	reviewed by expert panel	ClinGen:CA16614263
Indel	NM_000059.4(BRCA2):c.3478_3481delinsTGAGGA (p.Arg1160_Asp1161delinsTer)	BRCA2	Pathogenic	13	32911970	32911973	AGAG	TGAGGA	reviewed by expert panel	ClinGen:CA16614286
single nucleotide variant	NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter)	BRCA2	Pathogenic	13	32912007	32912007	C	A	reviewed by expert panel	ClinGen:CA16614291