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
Indel	NM_000059.4(BRCA2):c.4467_4474delinsTGTTTTT (p.Lys1489fs)	BRCA2	Pathogenic	13	32912959	32912966	AATACTGA	TGTTTTT	reviewed by expert panel	ClinGen:CA10589262
Deletion	NM_000059.4(BRCA2):c.4476del (p.Glu1493fs)	BRCA2	Pathogenic	13	32912966	32912966	GA	G	reviewed by expert panel	ClinGen:CA10589263
Duplication	NM_000059.4(BRCA2):c.4476dup (p.Glu1493fs)	BRCA2	Pathogenic	13	32912965	32912966	G	GA	reviewed by expert panel	ClinGen:CA10589264
Deletion	NM_000059.4(BRCA2):c.4513del (p.Thr1505fs)	BRCA2	Pathogenic	13	32913005	32913005	GA	G	reviewed by expert panel	ClinGen:CA10589265
Deletion	NM_000059.4(BRCA2):c.4530del (p.Glu1511fs)	BRCA2	Pathogenic	13	32913020	32913020	AC	A	reviewed by expert panel	ClinGen:CA10589266
Insertion	NM_000059.4(BRCA2):c.4540_4541insCGAT (p.Glu1514fs)	BRCA2	Pathogenic	13	32913032	32913033	G	GCGAT	reviewed by expert panel	ClinGen:CA10589267
Duplication	NM_000059.4(BRCA2):c.4576dup (p.Thr1526fs)	BRCA2	Pathogenic	13	32913067	32913068	T	TA	reviewed by expert panel	ClinGen:CA10589268
Deletion	NM_000059.4(BRCA2):c.4625del (p.Val1542fs)	BRCA2	Pathogenic	13	32913117	32913117	GT	G	reviewed by expert panel	ClinGen:CA10589269
Indel	NM_000059.3(BRCA2):c.4638_4640delinsGG (p.Phe1546fs)	BRCA2	Pathogenic	13	32913130	32913132	TGA	GG	reviewed by expert panel	ClinGen:CA10589270
Indel	NM_000059.3(BRCA2):c.4741delinsAA (p.Glu1581fs)	BRCA2	Pathogenic	13	32913233	32913233	G	AA	reviewed by expert panel	ClinGen:CA10589271