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.9127G>T (p.Glu3043Ter)	BRCA2	Pathogenic	13	32954153	32954153	G	T	reviewed by expert panel	ClinGen:CA026001
Indel	NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)	BRCA2	Pathogenic	13	32954278	32954281	AACA	TT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9480&base_change=del AACA ins TT,ClinGen:CA026051
Deletion	NM_000059.4(BRCA2):c.9376del (p.Gln3126fs)	BRCA2	Pathogenic	13	32968944	32968944	TC	T	reviewed by expert panel	ClinGen:CA026123
single nucleotide variant	NM_000059.4(BRCA2):c.9573G>A (p.Trp3191Ter)	BRCA2	Pathogenic	13	32971106	32971106	G	A	reviewed by expert panel	ClinGen:CA026218
Deletion	NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)	BRCA2	Pathogenic	13	32972330	32972330	CA	C	reviewed by expert panel	ClinGen:CA026267
Deletion	NM_000059.4(BRCA2):c.9808del (p.Ala3270fs)	BRCA2	Pathogenic	13	32972458	32972458	AG	A	reviewed by expert panel	ClinGen:CA026301
Deletion	NM_000059.4(BRCA2):c.9824del (p.Ser3275fs)	BRCA2	Pathogenic	13	32972474	32972474	AG	A	reviewed by expert panel	ClinGen:CA026307
single nucleotide variant	NM_000059.4(BRCA2):c.8633-1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32950806	32950806	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025747
single nucleotide variant	NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter)	BRCA2	Pathogenic	13	32953538	32953538	G	T	reviewed by expert panel	ClinGen:CA025846
single nucleotide variant	NM_000059.4(BRCA2):c.8933C>G (p.Ser2978Ter)	BRCA2	Pathogenic	13	32953632	32953632	C	G	reviewed by expert panel	ClinGen:CA025878