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.1195del (p.Thr399fs)	BRCA2	Pathogenic	13	32906809	32906809	TA	T	reviewed by expert panel	ClinGen:CA10589076
Indel	NM_000059.3(BRCA2):c.1225delinsTTT (p.Glu409fs)	BRCA2	Pathogenic	13	32906840	32906840	G	TTT	reviewed by expert panel	ClinGen:CA10589077
Indel	NM_000059.3(BRCA2):c.1232_1242delinsACAT (p.Ile411fs)	BRCA2	Pathogenic	13	32906847	32906857	TACCCCTATTG	ACAT	reviewed by expert panel	ClinGen:CA10589078
Deletion	NM_000059.4(BRCA2):c.1237del (p.Leu413fs)	BRCA2	Pathogenic	13	32906849	32906849	AC	A	reviewed by expert panel	ClinGen:CA10589079
Deletion	NM_000059.4(BRCA2):c.1249del (p.Ser417fs)	BRCA2	Pathogenic	13	32906862	32906862	AT	A	reviewed by expert panel	ClinGen:CA10589080
single nucleotide variant	NM_000059.4(BRCA2):c.1253C>G (p.Ser418Ter)	BRCA2	Pathogenic	13	32906868	32906868	C	G	reviewed by expert panel	ClinGen:CA10589081
Duplication	NM_000059.4(BRCA2):c.1285_1286dup (p.Leu429fs)	BRCA2	Pathogenic	13	32906899	32906900	A	ATT	reviewed by expert panel	ClinGen:CA10589082
single nucleotide variant	NM_000059.4(BRCA2):c.1286T>G (p.Leu429Ter)	BRCA2	Pathogenic	13	32906901	32906901	T	G	reviewed by expert panel	ClinGen:CA10589083
Duplication	NM_000059.4(BRCA2):c.1287dup (p.Asp430fs)	BRCA2	Pathogenic	13	32906901	32906902	T	TA	reviewed by expert panel	ClinGen:CA10589084
Duplication	NM_000059.4(BRCA2):c.1298dup (p.Asn433fs)	BRCA2	Pathogenic	13	32906911	32906912	G	GA	reviewed by expert panel	ClinGen:CA10589085