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
Duplication	NM_000059.4(BRCA2):c.7758_7759dup (p.Leu2587fs)	BRCA2	Pathogenic	13	32932018	32932019	G	GGC	reviewed by expert panel	ClinGen:CA16619769
single nucleotide variant	NM_000059.4(BRCA2):c.7976+2C>G	BRCA2	Pathogenic	13	32936832	32936832	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619774
Deletion	NM_000059.4(BRCA2):c.7999del (p.Ser2667fs)	BRCA2	Pathogenic	13	32937337	32937337	GA	G	reviewed by expert panel	ClinGen:CA16619775
Indel	NM_000059.4(BRCA2):c.8344_8351delinsCA (p.Ser2782_Arg2784delinsGln)	BRCA2	Likely pathogenic	13	32944551	32944558	AGTACTCG	CA	criteria provided, single submitter	ClinGen:CA16619779
single nucleotide variant	NM_000059.4(BRCA2):c.8755-1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32953453	32953453	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619783
Deletion	NM_000059.4(BRCA2):c.8940del (p.Glu2981fs)	BRCA2	Pathogenic	13	32953633	32953633	CA	C	reviewed by expert panel	ClinGen:CA16619785
Duplication	NM_000059.4(BRCA2):c.9309_9330dup (p.Glu3111delinsLysValLeuAspArgProTer)	BRCA2	Pathogenic	13	32968874	32968875	C	CAATAAAGTTTTGGATAGACCTT	reviewed by expert panel	ClinGen:CA16619789
Deletion	NM_000059.4(BRCA2):c.9325del (p.Asn3110fs)	BRCA2	Pathogenic	13	32968893	32968893	AC	A	reviewed by expert panel	ClinGen:CA16619790
Duplication	NM_000059.4(BRCA2):c.9633dup (p.Gly3212fs)	BRCA2	Pathogenic	13	32971165	32971166	C	CA	reviewed by expert panel	ClinGen:CA16619794
single nucleotide variant	NM_000059.4(BRCA2):c.293T>G (p.Leu98Ter)	BRCA2	Pathogenic	13	32893439	32893439	T	G	reviewed by expert panel	ClinGen:CA387754645