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
Insertion	NM_000059.4(BRCA2):c.8049_8050insT (p.Lys2684Ter)	BRCA2	Pathogenic	13	32937388	32937389	A	AT	reviewed by expert panel	ClinGen:CA10589465
Deletion	NM_000059.4(BRCA2):c.8056del (p.Val2687fs)	BRCA2	Pathogenic	13	32937395	32937395	AC	A	reviewed by expert panel	ClinGen:CA10589466
Insertion	NM_000059.4(BRCA2):c.8067_8068insTT (p.Val2690fs)	BRCA2	Pathogenic	13	32937405	32937406	G	GTT	reviewed by expert panel	ClinGen:CA10589467
Duplication	NM_000059.4(BRCA2):c.8113dup (p.Ser2705fs)	BRCA2	Pathogenic	13	32937451	32937452	T	TA	reviewed by expert panel	ClinGen:CA10589468
Duplication	NM_000059.4(BRCA2):c.8160_8196dup (p.Asp2733delinsThrTyrArgTrpValValCysCysTer)	BRCA2	Pathogenic	13	32937497	32937498	G	GAACTTACAGATGGGTGGTATGCTGTTAAGGCCCAGTT	reviewed by expert panel	ClinGen:CA10589469
Deletion	NM_000059.4(BRCA2):c.8164del (p.Thr2722fs)	BRCA2	Pathogenic	13	32937503	32937503	TA	T	reviewed by expert panel	ClinGen:CA10589470
single nucleotide variant	NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter)	BRCA2	Pathogenic	13	32937534	32937534	T	A	reviewed by expert panel	ClinGen:CA10589471
Deletion	NM_000059.4(BRCA2):c.8195_8202del (p.Leu2732fs)	BRCA2	Pathogenic	13	32937533	32937540	GTTAGATCC	G	reviewed by expert panel	ClinGen:CA10589472
Deletion	NM_000059.4(BRCA2):c.8201del (p.Pro2734fs)	BRCA2	Pathogenic	13	32937539	32937539	TC	T	reviewed by expert panel	ClinGen:CA10589473
Deletion	NM_000059.4(BRCA2):c.8238_8241del (p.Gly2748fs)	BRCA2	Pathogenic	13	32937577	32937580	CAGTT	C	reviewed by expert panel	ClinGen:CA10589474