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.6960del (p.Leu2320fs)	BRCA2	Pathogenic	13	32920986	32920986	TG	T	reviewed by expert panel	ClinGen:CA10589403
Deletion	NM_000059.4(BRCA2):c.6976del (p.Ser2326fs)	BRCA2	Pathogenic	13	32921000	32921000	GT	G	reviewed by expert panel	ClinGen:CA10589404
Insertion	NM_000059.4(BRCA2):c.6999_7000insT (p.Pro2334fs)	BRCA2	Pathogenic	13	32921025	32921026	A	AT	reviewed by expert panel	ClinGen:CA10589405
Deletion	NM_000059.4(BRCA2):c.7002del (p.Arg2336fs)	BRCA2	Pathogenic	13	32921026	32921026	AC	A	reviewed by expert panel	ClinGen:CA10589406
Deletion	NM_000059.4(BRCA2):c.7006del (p.Arg2336fs)	BRCA2	Pathogenic	13	32921032	32921032	TC	T	reviewed by expert panel	ClinGen:CA10589407
Duplication	NM_000059.4(BRCA2):c.7006dup (p.Arg2336fs)	BRCA2	Pathogenic	13	32921031	32921032	T	TC	reviewed by expert panel	ClinGen:CA10589408
Indel	NM_000059.3(BRCA2):c.7024_7044delinsTG (p.Gln2342fs)	BRCA2	Pathogenic	13	32929014	32929034	CAAGAGATACAGAATCCAAAT	TG	reviewed by expert panel	ClinGen:CA10589409
single nucleotide variant	NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)	BRCA2	Pathogenic	13	32929023	32929023	C	T	reviewed by expert panel	ClinGen:CA10589410
single nucleotide variant	NM_000059.4(BRCA2):c.7090G>T (p.Glu2364Ter)	BRCA2	Pathogenic	13	32929080	32929080	G	T	reviewed by expert panel	ClinGen:CA10589411
Duplication	NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs)	BRCA2	Pathogenic	13	32929095	32929096	G	GA	reviewed by expert panel	ClinGen:CA10589412