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.6447_6460del (p.Lys2150fs)	BRCA2	Pathogenic	13	32914937	32914950	TATTAAAGTTTCTCC	T	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.7379dup (p.Asn2460fs)	BRCA2	Pathogenic	13	32929364	32929365	C	CA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7500del (p.Arg2500fs)	BRCA2	Pathogenic	13	32930628	32930628	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7613_7614dup (p.Gln2539fs)	BRCA2	Pathogenic	13	32930740	32930741	T	TAA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7900del (p.Met2634fs)	BRCA2	Pathogenic	13	32936754	32936754	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8350del (p.Arg2784fs)	BRCA2	Pathogenic	13	32944557	32944557	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9850_9866del (p.Ser3284fs)	BRCA2	Likely pathogenic	13	32972498	32972514	GTTAGTCCCATTTGTACA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32899272	32899272	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.1841_1842dup (p.Asn615fs)	BRCA2	Likely pathogenic	13	32907455	32907456	A	ATT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.1846del (p.Cys616fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907461	32907461	CT	C	criteria provided, multiple submitters, no conflicts	-