ウィルムス腫瘍

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NM_000059.4(BRCA2):c.1391dup (p.Val465fs)	BRCA2	Pathogenic	13	32907005	32907006	G	GT	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.1548del (p.Phe516fs)	BRCA2	Pathogenic	13	32907163	32907163	TC	T	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1584_1585insA (p.Phe529fs)	BRCA2	Pathogenic	13	32907199	32907200	C	CA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1703_1704insG (p.Gln569fs)	BRCA2	Pathogenic	13	32907318	32907319	C	CG	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.1760del (p.Thr587fs)	BRCA2	Pathogenic	13	32907375	32907375	AC	A	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1812_1813insC (p.Ile605fs)	BRCA2	Pathogenic	13	32907427	32907428	A	AC	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1853_1854insA (p.Gln619fs)	BRCA2	Pathogenic	13	32907468	32907469	C	CA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1922_1923insAT (p.Ser642fs)	BRCA2	Pathogenic	13	32910414	32910415	C	CAT	reviewed by expert panel	-
single nucleotide variant	NM_000059.4(BRCA2):c.2133C>A (p.Cys711Ter)	BRCA2	Pathogenic	13	32910625	32910625	C	A	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.2201_2202insAA (p.Ala735fs)	BRCA2	Pathogenic	13	32910693	32910694	T	TAA	reviewed by expert panel	-