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.9418_9430del (p.Ala3140fs)	BRCA2	Pathogenic	13	32968984	32968996	ATTTGCTGGAGATT	A	reviewed by expert panel	ClinGen:CA10589566
Deletion	NM_000059.4(BRCA2):c.9423del (p.Asp3142fs)	BRCA2	Pathogenic	13	32968992	32968992	GA	G	reviewed by expert panel	ClinGen:CA10589567
Duplication	NM_000059.4(BRCA2):c.9440dup (p.Ala3148fs)	BRCA2	Pathogenic	13	32969008	32969009	T	TC	reviewed by expert panel	ClinGen:CA10589568
Deletion	NM_000059.4(BRCA2):c.9453del (p.Glu3152fs)	BRCA2	Pathogenic	13	32969019	32969019	CA	C	reviewed by expert panel	ClinGen:CA10589569
Deletion	NM_000059.4(BRCA2):c.9537_9544del (p.Leu3180fs)	BRCA2	Pathogenic	13	32971070	32971077	AGCTTATGC	A	reviewed by expert panel	ClinGen:CA10589570
Duplication	NM_000059.4(BRCA2):c.9550_9563dup (p.Pro3189fs)	BRCA2	Pathogenic	13	32971081	32971082	T	TACTGCATGCAAATG	reviewed by expert panel	ClinGen:CA10589571
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
Duplication	NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)	BRCA2	Pathogenic	13	32972396	32972397	C	CT	reviewed by expert panel	ClinGen:CA10589573
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.9836T>A (p.Leu3279Ter)	BRCA2	Pathogenic	13	32972486	32972486	T	A	reviewed by expert panel	ClinGen:CA10589575