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.5157_5160del (p.Asn1719fs)	BRCA2	Pathogenic	13	32913648	32913651	AATTC	A	reviewed by expert panel	ClinGen:CA10589292
Indel	NM_000059.3(BRCA2):c.5160_5168delinsTACAA (p.Asn1721fs)	BRCA2	Pathogenic	13	32913652	32913660	AAACAGTAC	TACAA	reviewed by expert panel	ClinGen:CA10589293
Duplication	NM_000059.4(BRCA2):c.5198_5199dup (p.Glu1734fs)	BRCA2	Pathogenic	13	32913689	32913690	T	TCC	reviewed by expert panel	ClinGen:CA10589294
Deletion	NM_000059.4(BRCA2):c.5205_5208del (p.Gln1736fs)	BRCA2	Pathogenic	13	32913695	32913698	AAAAC	A	reviewed by expert panel	ClinGen:CA10589295
Deletion	NM_000059.4(BRCA2):c.5205del (p.Lys1735fs)	BRCA2	Pathogenic	13	32913693	32913693	GA	G	reviewed by expert panel	ClinGen:CA10589296
Deletion	NM_000059.4(BRCA2):c.5213del (p.Thr1738fs)	BRCA2	Pathogenic	13	32913705	32913705	AC	A	reviewed by expert panel	ClinGen:CA10589297
Duplication	NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter)	BRCA2	Pathogenic	13	32913707	32913708	T	TA	reviewed by expert panel	ClinGen:CA10589298
Indel	NM_000059.3(BRCA2):c.5217_5218delinsA (p.Tyr1739_Leu1740delinsTer)	BRCA2	Pathogenic	13	32913709	32913710	TT	A	reviewed by expert panel	ClinGen:CA10589299
Deletion	NM_000059.4(BRCA2):c.5218_5224del (p.Leu1740fs)	BRCA2	Pathogenic	13	32913710	32913716	TTTAAGTA	T	reviewed by expert panel	ClinGen:CA10589300
Deletion	NM_000059.4(BRCA2):c.5218_5234del (p.Leu1740fs)	BRCA2	Pathogenic	13	32913708	32913724	TATTTAAGTAACAGTAGC	T	reviewed by expert panel	ClinGen:CA10589301