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.7388del (p.Asn2463fs)	BRCA2	Pathogenic	13	32929377	32929377	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.7791del (p.Glu2598fs)	BRCA2	Pathogenic	13	32932049	32932049	GA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8032del (p.Arg2678fs)	BRCA2	Pathogenic	13	32937369	32937369	GA	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8111_8118del (p.Thr2703_Ser2704insTer)	BRCA2	Pathogenic	13	32937449	32937456	TTCTAGCAA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.8931T>G (p.Tyr2977Ter)	BRCA2	Pathogenic	13	32953630	32953630	T	G	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs)	BRCA2	Pathogenic	13	32968896	32968897	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9591del (p.Cys3198fs)	BRCA2	Likely pathogenic	13	32971124	32971124	AC	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9711del (p.Lys3238fs)	BRCA2	Likely pathogenic	13	32972360	32972360	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr)	WT1	Pathogenic/Likely pathogenic	11	32413560	32413560	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.106_109del (p.Ser36fs)	BRCA2	Pathogenic	13	32893249	32893252	ACTTT	A	reviewed by expert panel	-