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.441del (p.Gln147fs)	BRCA2	Pathogenic	13	32900252	32900252	CA	C	reviewed by expert panel	ClinGen:CA10589024
Insertion	NM_000059.4(BRCA2):c.469_470insT (p.Lys157fs)	BRCA2	Pathogenic	13	32900281	32900282	A	AT	reviewed by expert panel	ClinGen:CA10589026
Deletion	NM_000059.4(BRCA2):c.470del (p.Lys157fs)	BRCA2	Pathogenic	13	32900281	32900281	TA	T	reviewed by expert panel	ClinGen:CA10589027
Duplication	NM_000059.4(BRCA2):c.470dup (p.Ser158fs)	BRCA2	Pathogenic	13	32900280	32900281	T	TA	reviewed by expert panel	ClinGen:CA10589028
Insertion	NM_000059.4(BRCA2):c.471_472insA (p.Ser158fs)	BRCA2	Pathogenic	13	32900283	32900284	G	GA	reviewed by expert panel	ClinGen:CA10589029
single nucleotide variant	NM_000059.4(BRCA2):c.473C>A (p.Ser158Ter)	BRCA2	Pathogenic	13	32900285	32900285	C	A	reviewed by expert panel	ClinGen:CA10589030
Deletion	NM_000059.4(BRCA2):c.506del (p.Lys169fs)	BRCA2	Pathogenic	13	32900407	32900407	CA	C	reviewed by expert panel	ClinGen:CA10589031
Insertion	NM_000059.4(BRCA2):c.566_567insG (p.Asp189fs)	BRCA2	Pathogenic	13	32900685	32900686	A	AG	reviewed by expert panel	ClinGen:CA10589032
Deletion	NM_000059.4(BRCA2):c.568_575del (p.Pro190fs)	BRCA2	Pathogenic	13	32900685	32900692	GATCCTGAT	G	reviewed by expert panel	ClinGen:CA10589033
Insertion	NM_000059.4(BRCA2):c.569_570insAACG (p.Asp191fs)	BRCA2	Pathogenic	13	32900688	32900689	C	CAACG	reviewed by expert panel	ClinGen:CA10589034