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.6034dup (p.Ser2012fs)	BRCA2	Pathogenic	13	32914522	32914523	C	CT	reviewed by expert panel	ClinGen:CA645509064
Duplication	NM_000059.4(BRCA2):c.6611dup (p.Val2205fs)	BRCA2	Pathogenic	13	32915101	32915102	T	TC	reviewed by expert panel	ClinGen:CA645372980
Duplication	NM_000059.4(BRCA2):c.7829dup (p.Asp2611fs)	BRCA2	Pathogenic	13	32936682	32936683	G	GT	reviewed by expert panel	ClinGen:CA645509331
Deletion	NM_000059.4(BRCA2):c.8090_8105del (p.Ser2697fs)	BRCA2	Pathogenic	13	32937426	32937441	TTGAGCGCAAATATATC	T	reviewed by expert panel	ClinGen:CA645509332
Duplication	NM_000059.4(BRCA2):c.8396dup (p.Pro2800fs)	BRCA2	Pathogenic	13	32944602	32944603	A	AG	reviewed by expert panel	ClinGen:CA645509334
single nucleotide variant	NM_000059.4(BRCA2):c.1381G>T (p.Glu461Ter)	BRCA2	Pathogenic	13	32906996	32906996	G	T	reviewed by expert panel	ClinGen:CA387762984
Deletion	NM_000059.4(BRCA2):c.4103del (p.Leu1368fs)	BRCA2	Pathogenic	13	32912594	32912594	AT	A	reviewed by expert panel	ClinGen:CA645509345
Duplication	NM_000059.4(BRCA2):c.342dup (p.Lys115Ter)	BRCA2	Pathogenic	13	32899237	32899238	A	AT	reviewed by expert panel	ClinGen:CA658653661
single nucleotide variant	NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn)	BRCA2	Likely pathogenic	13	32900419	32900419	G	T	criteria provided, single submitter	ClinGen:CA387757750
Deletion	NM_000059.4(BRCA2):c.774_777del (p.Arg259fs)	BRCA2	Pathogenic	13	32905147	32905150	CAAAG	C	reviewed by expert panel	ClinGen:CA658653665