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.2278_2279del (p.Leu760fs)	BRCA2	Pathogenic	13	32910768	32910769	CTT	C	reviewed by expert panel	ClinGen:CA10589150
Deletion	NM_000059.4(BRCA2):c.2397del (p.Gly800fs)	BRCA2	Pathogenic	13	32910887	32910887	CA	C	reviewed by expert panel	ClinGen:CA10589151
Duplication	NM_000059.4(BRCA2):c.2399dup (p.Gly800_Asn801insTer)	BRCA2	Pathogenic	13	32910889	32910890	A	AG	reviewed by expert panel	ClinGen:CA10589152
Duplication	NM_000059.4(BRCA2):c.2421dup (p.Glu808Ter)	BRCA2	Pathogenic	13	32910911	32910912	G	GT	reviewed by expert panel	ClinGen:CA10589153
Deletion	NM_000059.4(BRCA2):c.2430_2437del (p.Lys811fs)	BRCA2	Pathogenic	13	32910922	32910929	CCAAAAATA	C	reviewed by expert panel	ClinGen:CA10589154
Duplication	NM_000059.4(BRCA2):c.2451_2452dup (p.Asn818fs)	BRCA2	Pathogenic	13	32910941	32910942	A	AAG	reviewed by expert panel	ClinGen:CA10589155
Deletion	NM_000059.4(BRCA2):c.2471del (p.Ala823_Leu824insTer)	BRCA2	Pathogenic	13	32910961	32910961	CT	C	reviewed by expert panel	ClinGen:CA10589156
Insertion	NM_000059.4(BRCA2):c.2490_2491insT (p.Val831fs)	BRCA2	Pathogenic	13	32910982	32910983	C	CT	reviewed by expert panel	ClinGen:CA10589157
Deletion	NM_000059.4(BRCA2):c.2509_2513del (p.Glu837fs)	BRCA2	Pathogenic	13	32911001	32911005	TGAAAA	T	reviewed by expert panel	ClinGen:CA10589158
Deletion	NM_000059.4(BRCA2):c.2514del (p.Lys838fs)	BRCA2	Pathogenic	13	32911002	32911002	GA	G	reviewed by expert panel	ClinGen:CA10589159