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.5014dup (p.Tyr1672fs)	BRCA2	Pathogenic	13	32913501	32913502	C	CT	reviewed by expert panel	ClinGen:CA021132
Deletion	NM_000059.4(BRCA2):c.5045del (p.Ser1682fs)	BRCA2	Pathogenic	13	32913537	32913537	AG	A	reviewed by expert panel	ClinGen:CA021174
Indel	NM_000059.4(BRCA2):c.5065_5066delinsAAA (p.Ala1689fs)	BRCA2	Pathogenic	13	32913557	32913558	GC	AAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5293&base_change=del GC ins AAA,ClinGen:CA021195
Deletion	NM_000059.4(BRCA2):c.5073del (p.Lys1691fs)	BRCA2	Pathogenic	13	32913559	32913559	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5301&base_change=del A,ClinGen:CA021210
Insertion	NM_000059.4(BRCA2):c.5086_5087insA (p.Gly1696fs)	BRCA2	Pathogenic	13	32913578	32913579	G	GA	reviewed by expert panel	ClinGen:CA021230
single nucleotide variant	NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)	BRCA2	Pathogenic	13	32913593	32913593	C	T	reviewed by expert panel	ClinGen:CA021256
single nucleotide variant	NM_000059.4(BRCA2):c.5107G>T (p.Glu1703Ter)	BRCA2	Pathogenic	13	32913599	32913599	G	T	reviewed by expert panel	ClinGen:CA021274
Deletion	NM_000059.4(BRCA2):c.5115_5119del (p.Asn1706fs)	BRCA2	Pathogenic	13	32913607	32913611	TAAATA	T	reviewed by expert panel	ClinGen:CA021289
Deletion	NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)	BRCA2	Pathogenic	13	32913620	32913623	TTATG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5357&base_change=del ATGT,Breast Cancer Information Core (BIC) (BRCA2):5358&base_change=del TGTA,ClinGen:CA021343
Deletion	NM_000059.4(BRCA2):c.5131del (p.Tyr1710_Val1711insTer)	BRCA2	Pathogenic	13	32913623	32913623	TG	T	reviewed by expert panel	ClinGen:CA021362