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.1855del (p.Gln619fs)	BRCA2	Pathogenic	13	32907468	32907468	GC	G	reviewed by expert panel	ClinGen:CA013637
single nucleotide variant	NM_000059.4(BRCA2):c.1960G>T (p.Glu654Ter)	BRCA2	Pathogenic	13	32910452	32910452	G	T	reviewed by expert panel	ClinGen:CA014026
single nucleotide variant	NM_000059.4(BRCA2):c.2494G>T (p.Glu832Ter)	BRCA2	Pathogenic	13	32910986	32910986	G	T	reviewed by expert panel	ClinGen:CA015478
single nucleotide variant	NM_000059.4(BRCA2):c.2612C>G (p.Ser871Ter)	BRCA2	Pathogenic	13	32911104	32911104	C	G	reviewed by expert panel	ClinGen:CA015833
Deletion	NM_000059.4(BRCA2):c.3353_3355del (p.Leu1118_Glu1119delinsTer)	BRCA2	Pathogenic	13	32911845	32911847	TTAG	T	reviewed by expert panel	ClinGen:CA017838
Deletion	NM_000059.4(BRCA2):c.3365del (p.Gly1122fs)	BRCA2	Pathogenic	13	32911856	32911856	AG	A	reviewed by expert panel	ClinGen:CA017872
Duplication	NM_000059.4(BRCA2):c.3836dup (p.Asn1279fs)	BRCA2	Pathogenic	13	32912326	32912327	T	TA	reviewed by expert panel	ClinGen:CA196954
Deletion	NM_000059.4(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer)	BRCA2	Pathogenic	13	32912702	32912706	TTCAAA	T	reviewed by expert panel	ClinGen:CA019721
single nucleotide variant	NM_000059.4(BRCA2):c.4246C>T (p.Gln1416Ter)	BRCA2	Pathogenic	13	32912738	32912738	C	T	reviewed by expert panel	ClinGen:CA019781
Deletion	NM_000059.4(BRCA2):c.4477_4478del (p.Glu1493fs)	BRCA2	Pathogenic	13	32912968	32912969	AAG	A	reviewed by expert panel	ClinGen:CA020240