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.4305del (p.Asn1435fs)	BRCA2	Pathogenic	13	32912797	32912797	AT	A	reviewed by expert panel	ClinGen:CA10589251
Deletion	NM_000059.4(BRCA2):c.4334_4338del (p.Lys1445fs)	BRCA2	Pathogenic	13	32912826	32912830	AAAATT	A	reviewed by expert panel	ClinGen:CA10589253
single nucleotide variant	NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter)	BRCA2	Pathogenic	13	32912858	32912858	G	T	reviewed by expert panel	ClinGen:CA10589254
Duplication	NM_000059.4(BRCA2):c.4385dup (p.Leu1462fs)	BRCA2	Pathogenic	13	32912875	32912876	C	CT	reviewed by expert panel	ClinGen:CA10589255
single nucleotide variant	NM_000059.4(BRCA2):c.4397T>A (p.Leu1466Ter)	BRCA2	Pathogenic	13	32912889	32912889	T	A	reviewed by expert panel	ClinGen:CA10589256
Insertion	NM_000059.4(BRCA2):c.4402_4403insA (p.Ser1468fs)	BRCA2	Pathogenic	13	32912894	32912895	T	TA	reviewed by expert panel	ClinGen:CA10589257
Duplication	NM_000059.4(BRCA2):c.4404dup (p.Asp1469Ter)	BRCA2	Pathogenic	13	32912895	32912896	C	CT	reviewed by expert panel	ClinGen:CA10589258
Duplication	NM_000059.4(BRCA2):c.4424dup (p.Met1475fs)	BRCA2	Pathogenic	13	32912915	32912916	A	AT	reviewed by expert panel	ClinGen:CA10589259
Deletion	NM_000059.4(BRCA2):c.4429del (p.Ile1477fs)	BRCA2	Pathogenic	13	32912921	32912921	CA	C	reviewed by expert panel	ClinGen:CA10589260
Deletion	NM_000059.4(BRCA2):c.4458del (p.Lys1487fs)	BRCA2	Pathogenic	13	32912949	32912949	GT	G	reviewed by expert panel	ClinGen:CA10589261