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
Duplication	NM_000059.4(BRCA2):c.7340dup (p.Asn2447fs)	BRCA2	Pathogenic	13	32929330	32929330	T	TA	reviewed by expert panel	ClinGen:CA273824
single nucleotide variant	NM_000059.4(BRCA2):c.9281C>G (p.Ser3094Ter)	BRCA2	Pathogenic	13	32968850	32968850	C	G	reviewed by expert panel	ClinGen:CA026085
Deletion	NM_000059.4(BRCA2):c.5723_5727del (p.Leu1908fs)	BRCA2	Pathogenic	13	32914215	32914219	CTAGAT	C	reviewed by expert panel	ClinGen:CA023049
Indel	NM_000059.4(BRCA2):c.5595_5596delinsC (p.Phe1866fs)	BRCA2	Pathogenic	13	32914087	32914088	AT	C	reviewed by expert panel	ClinGen:CA280073
Deletion	NM_000059.4(BRCA2):c.(6841+1_6842-1)_(7007+1_7008-1)del	BRCA2	Pathogenic	13	32915334	32928997	na	na	criteria provided, single submitter	LOVD 3:BRCA2_002466
single nucleotide variant	NM_000059.4(BRCA2):c.1A>G (p.Met1Val)	BRCA2	Pathogenic	13	32890598	32890598	A	G	criteria provided, single submitter	ClinGen:CA335967
Deletion	NM_000059.4(BRCA2):c.67+2del	BRCA2	Likely pathogenic	13	32890666	32890666	GT	G	criteria provided, single submitter	ClinGen:CA335821
Deletion	NM_000059.4(BRCA2):c.4176del (p.Ala1393fs)	BRCA2	Pathogenic	13	32912667	32912667	GT	G	reviewed by expert panel	ClinGen:CA335700
Deletion	NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)	BRCA2	Pathogenic	13	32913004	32913014	TGACCTTCCAGG	T	reviewed by expert panel	ClinGen:CA338948
Duplication	NM_000059.4(BRCA2):c.4587dup (p.Lys1530fs)	BRCA2	Pathogenic	13	32913076	32913077	C	CG	reviewed by expert panel	ClinGen:CA335811